## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS COMT_HUMAN Event=Alternative initiation; Named isoforms=2; Name=Membrane-bound; Synonyms=MB-COMT; IsoId=P21964-1; Sequence=Displayed; Name=Soluble; Synonyms=S-COMT; IsoId=P21964-2; Sequence=VSP_018778; # BRENDA 2.1.1 2681 # BioGrid 107707 21 # CATALYTIC ACTIVITY COMT_HUMAN S-adenosyl-L-methionine + a catechol = S- adenosyl-L-homocysteine + a guaiacol. # CCDS CCDS13770 -. [P21964-1] # CCDS CCDS46663 -. [P21964-2] # COFACTOR Name=Mg(2+); Xref=ChEBI:CHEBI 18420; Note=Binds 1 Mg(2+) ion per subunit.; # ChiTaRS COMT human # DrugBank DB00118 S-Adenosylmethionine # DrugBank DB00255 Diethylstilbestrol # DrugBank DB00286 Conjugated Estrogens # DrugBank DB00323 Tolcapone # DrugBank DB00494 Entacapone # DrugBank DB00841 Dobutamine # DrugBank DB00968 Methyldopa # DrugBank DB00988 Dopamine # DrugBank DB01141 Micafungin # DrugBank DB01420 Testosterone Propionate # Ensembl ENST00000361682 ENSP00000354511; ENSG00000093010. [P21964-1] # Ensembl ENST00000403710 ENSP00000385917; ENSG00000093010. [P21964-1] # Ensembl ENST00000406520 ENSP00000385150; ENSG00000093010. [P21964-1] # Ensembl ENST00000407537 ENSP00000384654; ENSG00000093010. [P21964-1] # Ensembl ENST00000449653 ENSP00000416778; ENSG00000093010. [P21964-2] # ExpressionAtlas P21964 baseline and differential # FUNCTION COMT_HUMAN Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol. # GO_component GO:0005739 mitochondrion; 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:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0030424 axon; IEA:Ensembl. # GO_component GO:0043197 dendritic spine; IEA:Ensembl. # GO_component GO:0044297 cell body; IEA:Ensembl. # GO_component GO:0045211 postsynaptic membrane; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0000287 magnesium ion binding; IEA:InterPro. # GO_function GO:0008168 methyltransferase activity; TAS:Reactome. # GO_function GO:0008171 O-methyltransferase activity; TAS:ProtInc. # GO_function GO:0016206 catechol O-methyltransferase activity; TAS:Reactome. # GO_process GO:0007565 female pregnancy; IEA:Ensembl. # GO_process GO:0007612 learning; IEA:Ensembl. # GO_process GO:0007614 short-term memory; IEA:Ensembl. # GO_process GO:0008210 estrogen metabolic process; IEA:Ensembl. # GO_process GO:0014070 response to organic cyclic compound; IEA:Ensembl. # GO_process GO:0016036 cellular response to phosphate starvation; IEA:Ensembl. # GO_process GO:0032259 methylation; TAS:Reactome. # GO_process GO:0032496 response to lipopolysaccharide; IEA:Ensembl. # GO_process GO:0032502 developmental process; IEA:Ensembl. # GO_process GO:0035814 negative regulation of renal sodium excretion; IEA:Ensembl. # GO_process GO:0042135 neurotransmitter catabolic process; IEA:UniProtKB-KW. # GO_process GO:0042420 dopamine catabolic process; IEA:Ensembl. # GO_process GO:0042493 response to drug; IEA:Ensembl. # GO_process GO:0045963 negative regulation of dopamine metabolic process; IEA:Ensembl. # GO_process GO:0048265 response to pain; IEA:Ensembl. # GO_process GO:0048609 multicellular organismal reproductive process; IEA:Ensembl. # GO_process GO:0048662 negative regulation of smooth muscle cell proliferation; IEA:Ensembl. # GO_process GO:0050668 positive regulation of homocysteine metabolic process; IEA:Ensembl. # GO_process GO:0051930 regulation of sensory perception of pain; IEA:Ensembl. # 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_function GO:0008168 methyltransferase activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0050877 neurological system process # Gene3D 3.40.50.150 -; 1. # Genevisible P21964 HS # HGNC HGNC:2228 COMT # INTERACTION COMT_HUMAN P30260 CDC27; NbExp=3; IntAct=EBI-10200977, EBI-994813; Q15323 KRT31; NbExp=3; IntAct=EBI-10200977, EBI-948001; Q6A162 KRT40; NbExp=3; IntAct=EBI-10200977, EBI-10171697; P26371 KRTAP5-9; NbExp=3; IntAct=EBI-10200977, EBI-3958099; Q15645 TRIP13; NbExp=3; IntAct=EBI-372265, EBI-358993; # IntAct P21964 24 # InterPro IPR002935 O-MeTrfase_3 # InterPro IPR017128 Catechol_O-MeTrfase_euk # InterPro IPR029063 SAM-dependent_MTases # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Disease H01450 [Mental and behavioural disorders] Obsessive-compulsive disorder (OCD) # KEGG_Pathway ko00140 Steroid hormone biosynthesis # KEGG_Pathway ko00350 Tyrosine metabolism # KEGG_Pathway ko00965 Betalain biosynthesis # KEGG_Pathway ko04728 Dopaminergic synapse # MASS SPECTROMETRY Mass=24352; Mass_error=2; Method=Electrospray; Range=52-271; Evidence={ECO:0000269|PubMed 8020475}; # MIM 103780 phenotype # MIM 116790 gene+phenotype # Organism COMT_HUMAN Homo sapiens (Human) # Orphanet 240863 Cisplatin toxicity # Orphanet 3140 Schizophrenia # Orphanet 567 22q11.2 deletion syndrome # PDB 3A7E X-ray; 2.80 A; A=51-264 # PDB 3BWM X-ray; 1.98 A; A=52-265 # PDB 3BWY X-ray; 1.30 A; A=52-265 # PDB 4PYI X-ray; 1.35 A; A=51-271 # PDB 4PYJ X-ray; 1.90 A; A=51-271 # PDB 4PYK X-ray; 2.22 A; A=51-271 # PDB 4XUC X-ray; 1.80 A; A=48-265 # PDB 4XUD X-ray; 2.40 A; A=48-265 # PDB 4XUE X-ray; 2.30 A; A/B=52-265 # PDB 5LSA X-ray; 1.50 A; A=51-271 # PIR I37256 A38459 # PIRSF PIRSF037177 Catechol_O-mtfrase_euk # POLYMORPHISM COMT_HUMAN Two alleles, COMT*1 or COMT*H with Val-158 and COMT*2 or COMT*L with Met-158 are responsible for a three to four- fold difference in enzymatic activity. {ECO 0000269|PubMed 18442637, ECO 0000269|PubMed 18474266, ECO 0000269|PubMed 8807664}. # POLYMORPHISM Low enzyme activity alleles are associated with genetic susceptibility to alcoholism [MIM:103780]. {ECO 0000269|PubMed:10395222}. # PROSITE PS51682 SAM_OMT_I # PTM COMT_HUMAN The N-terminus is blocked. # Pfam PF01596 Methyltransf_3 # Proteomes UP000005640 Chromosome 22 # Reactome R-HSA-156581 Methylation # Reactome R-HSA-379397 Enzymatic degradation of dopamine by COMT # Reactome R-HSA-379398 Enzymatic degradation of Dopamine by monoamine oxidase # RecName COMT_HUMAN Catechol O-methyltransferase # RefSeq NP_000745 NM_000754.3. [P21964-1] # RefSeq NP_001128633 NM_001135161.1. [P21964-1] # RefSeq NP_001128634 NM_001135162.1. [P21964-1] # RefSeq NP_009294 NM_007310.2. [P21964-2] # RefSeq XP_016884083 XM_017028594.1. [P21964-1] # RefSeq XP_016884084 XM_017028595.1. [P21964-1] # SEQUENCE CAUTION Sequence=AAH00419.2; Type=Erroneous termination; Positions=85; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=AAH05867.1; Type=Erroneous termination; Positions=85; Note=Translated as Gln.; Evidence={ECO 0000305}; Sequence=ACI46037.1; Type=Erroneous termination; Positions=85; Note=Translated as Gln.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O- methyltransferase family. {ECO:0000255|PROSITE-ProRule PRU01019}. # SUBCELLULAR LOCATION COMT_HUMAN Isoform Membrane-bound Cell membrane; Single-pass type II membrane protein; Extracellular side {ECO 0000269|PubMed 21846718}. # SUBCELLULAR LOCATION COMT_HUMAN Isoform Soluble Cytoplasm. # SUPFAM SSF53335 SSF53335 # TISSUE SPECIFICITY COMT_HUMAN Brain, liver, placenta, lymphocytes and erythrocytes. # TopDownProteomics P21964-1 -. [P21964-1] # TopDownProteomics P21964-2 -. [P21964-2] # UCSC uc002zqu human. [P21964-1] # WEB RESOURCE COMT_HUMAN Name=NIEHS-SNPs; URL="http //egp.gs.washington.edu/data/comt/"; # WEB RESOURCE COMT_HUMAN Name=Wikipedia; Note=Catechol-O-methyl transferase entry; URL="https //en.wikipedia.org/wiki/Catechol-O-methyl_transferase"; # eggNOG COG4122 LUCA # eggNOG KOG1663 Eukaryota BLAST swissprot:COMT_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:COMT_HUMAN BioCyc MetaCyc:HS01791-MONOMER http://biocyc.org/getid?id=MetaCyc:HS01791-MONOMER BioCyc ZFISH:HS01791-MONOMER http://biocyc.org/getid?id=ZFISH:HS01791-MONOMER COXPRESdb 1312 http://coxpresdb.jp/data/gene/1312.shtml CleanEx HS_COMT http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_COMT DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s00439-004-1239-y http://dx.doi.org/10.1007/s00439-004-1239-y DOI 10.1016/0006-291X(91)91517-G http://dx.doi.org/10.1016/0006-291X(91)91517-G DOI 10.1016/j.bbapap.2008.04.006 http://dx.doi.org/10.1016/j.bbapap.2008.04.006 DOI 10.1016/j.jmb.2008.04.040 http://dx.doi.org/10.1016/j.jmb.2008.04.040 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.metabol.2008.01.012 http://dx.doi.org/10.1016/j.metabol.2008.01.012 DOI 10.1038/10290 http://dx.doi.org/10.1038/10290 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.mp.4000509 http://dx.doi.org/10.1038/sj.mp.4000509 DOI 10.1073/pnas.88.4.1416 http://dx.doi.org/10.1073/pnas.88.4.1416 DOI 10.1074/jbc.M111.262790 http://dx.doi.org/10.1074/jbc.M111.262790 DOI 10.1089/dna.1991.10.181 http://dx.doi.org/10.1089/dna.1991.10.181 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/j.1432-1033.1991.tb16464.x http://dx.doi.org/10.1111/j.1432-1033.1991.tb16464.x DOI 10.1111/j.1432-1033.1994.tb18876.x http://dx.doi.org/10.1111/j.1432-1033.1994.tb18876.x DOI 10.1111/j.1432-1033.1994.tb19083.x http://dx.doi.org/10.1111/j.1432-1033.1994.tb19083.x 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 DrugBank DB00118 http://www.drugbank.ca/drugs/DB00118 DrugBank DB00255 http://www.drugbank.ca/drugs/DB00255 DrugBank DB00286 http://www.drugbank.ca/drugs/DB00286 DrugBank DB00323 http://www.drugbank.ca/drugs/DB00323 DrugBank DB00494 http://www.drugbank.ca/drugs/DB00494 DrugBank DB00841 http://www.drugbank.ca/drugs/DB00841 DrugBank DB00968 http://www.drugbank.ca/drugs/DB00968 DrugBank DB00988 http://www.drugbank.ca/drugs/DB00988 DrugBank DB01141 http://www.drugbank.ca/drugs/DB01141 DrugBank DB01420 http://www.drugbank.ca/drugs/DB01420 EC_number EC:2.1.1.6 http://www.genome.jp/dbget-bin/www_bget?EC:2.1.1.6 EMBL AC000080 http://www.ebi.ac.uk/ena/data/view/AC000080 EMBL AC000090 http://www.ebi.ac.uk/ena/data/view/AC000090 EMBL AC005663 http://www.ebi.ac.uk/ena/data/view/AC005663 EMBL AK290440 http://www.ebi.ac.uk/ena/data/view/AK290440 EMBL AY341246 http://www.ebi.ac.uk/ena/data/view/AY341246 EMBL BC000419 http://www.ebi.ac.uk/ena/data/view/BC000419 EMBL BC005867 http://www.ebi.ac.uk/ena/data/view/BC005867 EMBL BC011935 http://www.ebi.ac.uk/ena/data/view/BC011935 EMBL BC100018 http://www.ebi.ac.uk/ena/data/view/BC100018 EMBL CH471176 http://www.ebi.ac.uk/ena/data/view/CH471176 EMBL CR456422 http://www.ebi.ac.uk/ena/data/view/CR456422 EMBL CR456997 http://www.ebi.ac.uk/ena/data/view/CR456997 EMBL FJ224345 http://www.ebi.ac.uk/ena/data/view/FJ224345 EMBL M58525 http://www.ebi.ac.uk/ena/data/view/M58525 EMBL M65212 http://www.ebi.ac.uk/ena/data/view/M65212 EMBL M65213 http://www.ebi.ac.uk/ena/data/view/M65213 EMBL Z26491 http://www.ebi.ac.uk/ena/data/view/Z26491 ENZYME 2.1.1.6 http://enzyme.expasy.org/EC/2.1.1.6 Ensembl ENST00000361682 http://www.ensembl.org/id/ENST00000361682 Ensembl ENST00000403710 http://www.ensembl.org/id/ENST00000403710 Ensembl ENST00000406520 http://www.ensembl.org/id/ENST00000406520 Ensembl ENST00000407537 http://www.ensembl.org/id/ENST00000407537 Ensembl ENST00000449653 http://www.ensembl.org/id/ENST00000449653 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: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: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:0043197 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043197 GO_component GO:0044297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044297 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:0000287 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000287 GO_function GO:0008168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008168 GO_function GO:0008171 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008171 GO_function GO:0016206 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016206 GO_process GO:0007565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007565 GO_process GO:0007612 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007612 GO_process GO:0007614 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007614 GO_process GO:0008210 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008210 GO_process GO:0014070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014070 GO_process GO:0016036 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016036 GO_process GO:0032259 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032259 GO_process GO:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GO_process GO:0032502 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032502 GO_process GO:0035814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035814 GO_process GO:0042135 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042135 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:0045963 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045963 GO_process GO:0048265 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048265 GO_process GO:0048609 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048609 GO_process GO:0048662 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048662 GO_process GO:0050668 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050668 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: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_function GO:0008168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008168 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: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:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 3.40.50.150 http://www.cathdb.info/version/latest/superfamily/3.40.50.150 GeneCards COMT http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=COMT GeneID 1312 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1312 GeneTree ENSGT00390000011316 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011316 HGNC HGNC:2228 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:2228 HOGENOM HOG000046392 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000046392&db=HOGENOM6 HOVERGEN HBG005376 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005376&db=HOVERGEN HPA CAB011233 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB011233 HPA HPA001169 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001169 InParanoid P21964 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P21964 IntAct P21964 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P21964* IntEnz 2.1.1.6 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.1.1.6 InterPro IPR002935 http://www.ebi.ac.uk/interpro/entry/IPR002935 InterPro IPR017128 http://www.ebi.ac.uk/interpro/entry/IPR017128 InterPro IPR029063 http://www.ebi.ac.uk/interpro/entry/IPR029063 Jabion 1312 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=1312 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 H01450 http://www.genome.jp/dbget-bin/www_bget?H01450 KEGG_Gene hsa:1312 http://www.genome.jp/dbget-bin/www_bget?hsa:1312 KEGG_Orthology KO:K00545 http://www.genome.jp/dbget-bin/www_bget?KO:K00545 KEGG_Pathway ko00140 http://www.genome.jp/kegg-bin/show_pathway?ko00140 KEGG_Pathway ko00350 http://www.genome.jp/kegg-bin/show_pathway?ko00350 KEGG_Pathway ko00965 http://www.genome.jp/kegg-bin/show_pathway?ko00965 KEGG_Pathway ko04728 http://www.genome.jp/kegg-bin/show_pathway?ko04728 KEGG_Reaction rn:R02534 http://www.genome.jp/dbget-bin/www_bget?rn:R02534 KEGG_Reaction rn:R02920 http://www.genome.jp/dbget-bin/www_bget?rn:R02920 KEGG_Reaction rn:R03304 http://www.genome.jp/dbget-bin/www_bget?rn:R03304 KEGG_Reaction rn:R04301 http://www.genome.jp/dbget-bin/www_bget?rn:R04301 KEGG_Reaction rn:R04762 http://www.genome.jp/dbget-bin/www_bget?rn:R04762 KEGG_Reaction rn:R04764 http://www.genome.jp/dbget-bin/www_bget?rn:R04764 KEGG_Reaction rn:R04881 http://www.genome.jp/dbget-bin/www_bget?rn:R04881 KEGG_Reaction rn:R04887 http://www.genome.jp/dbget-bin/www_bget?rn:R04887 MIM 103780 http://www.ncbi.nlm.nih.gov/omim/103780 MIM 116790 http://www.ncbi.nlm.nih.gov/omim/116790 MINT MINT-4529967 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4529967 OMA GDEKGCI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GDEKGCI Orphanet 240863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=240863 Orphanet 3140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3140 Orphanet 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=567 OrthoDB EOG091G0GQK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GQK PDB 3A7E http://www.ebi.ac.uk/pdbe-srv/view/entry/3A7E PDB 3BWM http://www.ebi.ac.uk/pdbe-srv/view/entry/3BWM PDB 3BWY http://www.ebi.ac.uk/pdbe-srv/view/entry/3BWY PDB 4PYI http://www.ebi.ac.uk/pdbe-srv/view/entry/4PYI PDB 4PYJ http://www.ebi.ac.uk/pdbe-srv/view/entry/4PYJ PDB 4PYK http://www.ebi.ac.uk/pdbe-srv/view/entry/4PYK PDB 4XUC http://www.ebi.ac.uk/pdbe-srv/view/entry/4XUC PDB 4XUD http://www.ebi.ac.uk/pdbe-srv/view/entry/4XUD PDB 4XUE http://www.ebi.ac.uk/pdbe-srv/view/entry/4XUE PDB 5LSA http://www.ebi.ac.uk/pdbe-srv/view/entry/5LSA PDBsum 3A7E http://www.ebi.ac.uk/pdbsum/3A7E PDBsum 3BWM http://www.ebi.ac.uk/pdbsum/3BWM PDBsum 3BWY http://www.ebi.ac.uk/pdbsum/3BWY PDBsum 4PYI http://www.ebi.ac.uk/pdbsum/4PYI PDBsum 4PYJ http://www.ebi.ac.uk/pdbsum/4PYJ PDBsum 4PYK http://www.ebi.ac.uk/pdbsum/4PYK PDBsum 4XUC http://www.ebi.ac.uk/pdbsum/4XUC PDBsum 4XUD http://www.ebi.ac.uk/pdbsum/4XUD PDBsum 4XUE http://www.ebi.ac.uk/pdbsum/4XUE PDBsum 5LSA http://www.ebi.ac.uk/pdbsum/5LSA PROSITE PS51682 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51682 PSORT swissprot:COMT_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:COMT_HUMAN PSORT-B swissprot:COMT_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:COMT_HUMAN PSORT2 swissprot:COMT_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:COMT_HUMAN Pfam PF01596 http://pfam.xfam.org/family/PF01596 PharmGKB PA117 http://www.pharmgkb.org/do/serve?objId=PA117&objCls=Gene Phobius swissprot:COMT_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:COMT_HUMAN PhylomeDB P21964 http://phylomedb.org/?seqid=P21964 ProteinModelPortal P21964 http://www.proteinmodelportal.org/query/uniprot/P21964 PubMed 10391209 http://www.ncbi.nlm.nih.gov/pubmed/10391209 PubMed 10395222 http://www.ncbi.nlm.nih.gov/pubmed/10395222 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 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 15645182 http://www.ncbi.nlm.nih.gov/pubmed/15645182 PubMed 1707278 http://www.ncbi.nlm.nih.gov/pubmed/1707278 PubMed 1765063 http://www.ncbi.nlm.nih.gov/pubmed/1765063 PubMed 18442637 http://www.ncbi.nlm.nih.gov/pubmed/18442637 PubMed 18474266 http://www.ncbi.nlm.nih.gov/pubmed/18474266 PubMed 1847521 http://www.ncbi.nlm.nih.gov/pubmed/1847521 PubMed 18486144 http://www.ncbi.nlm.nih.gov/pubmed/18486144 PubMed 1993083 http://www.ncbi.nlm.nih.gov/pubmed/1993083 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 21846718 http://www.ncbi.nlm.nih.gov/pubmed/21846718 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8020475 http://www.ncbi.nlm.nih.gov/pubmed/8020475 PubMed 8055944 http://www.ncbi.nlm.nih.gov/pubmed/8055944 PubMed 8807664 http://www.ncbi.nlm.nih.gov/pubmed/8807664 Reactome R-HSA-156581 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-156581 Reactome R-HSA-379397 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-379397 Reactome R-HSA-379398 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-379398 RefSeq NP_000745 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000745 RefSeq NP_001128633 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128633 RefSeq NP_001128634 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128634 RefSeq NP_009294 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_009294 RefSeq XP_016884083 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884083 RefSeq XP_016884084 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884084 SMR P21964 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P21964 STRING 9606.ENSP00000354511 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000354511&targetmode=cogs SUPFAM SSF53335 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53335 UCSC uc002zqu http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zqu&org=rat UniGene Hs.370408 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.370408 UniGene Hs.693979 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.693979 UniGene Hs.713616 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.713616 UniGene Hs.738526 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.738526 UniProtKB COMT_HUMAN http://www.uniprot.org/uniprot/COMT_HUMAN UniProtKB-AC P21964 http://www.uniprot.org/uniprot/P21964 charge swissprot:COMT_HUMAN http://rest.g-language.org/emboss/charge/swissprot:COMT_HUMAN eggNOG COG4122 http://eggnogapi.embl.de/nog_data/html/tree/COG4122 eggNOG KOG1663 http://eggnogapi.embl.de/nog_data/html/tree/KOG1663 epestfind swissprot:COMT_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:COMT_HUMAN garnier swissprot:COMT_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:COMT_HUMAN helixturnhelix swissprot:COMT_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:COMT_HUMAN hmoment swissprot:COMT_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:COMT_HUMAN iep swissprot:COMT_HUMAN http://rest.g-language.org/emboss/iep/swissprot:COMT_HUMAN inforesidue swissprot:COMT_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:COMT_HUMAN neXtProt NX_P21964 http://www.nextprot.org/db/entry/NX_P21964 octanol swissprot:COMT_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:COMT_HUMAN pepcoil swissprot:COMT_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:COMT_HUMAN pepdigest swissprot:COMT_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:COMT_HUMAN pepinfo swissprot:COMT_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:COMT_HUMAN pepnet swissprot:COMT_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:COMT_HUMAN pepstats swissprot:COMT_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:COMT_HUMAN pepwheel swissprot:COMT_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:COMT_HUMAN pepwindow swissprot:COMT_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:COMT_HUMAN sigcleave swissprot:COMT_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:COMT_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000378120 ENSP00000367360; ENSG00000204960 # Ensembl ENST00000616210 ENSP00000484754; ENSG00000204960 # HGNC HGNC:20484 BLACE # Organism BLACE_HUMAN Homo sapiens (Human) # Proteomes UP000005640 Chromosome 7 # RecName BLACE_HUMAN B-cell acute lymphoblastic leukemia-expressed protein # SEQUENCE CAUTION Sequence=AY166699; Type=Frameshift; Positions=111; Evidence={ECO 0000305}; # UCSC uc033aqq human # eggNOG ENOG410KCGH Eukaryota # eggNOG ENOG4110NZQ LUCA BLAST swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BLACE_HUMAN DOI 10.1016/S0888-7543(03)00209-X http://dx.doi.org/10.1016/S0888-7543(03)00209-X DOI 10.1038/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1126/science.1083423 http://dx.doi.org/10.1126/science.1083423 EMBL AC142169 http://www.ebi.ac.uk/ena/data/view/AC142169 EMBL AY166699 http://www.ebi.ac.uk/ena/data/view/AY166699 EMBL CH236954 http://www.ebi.ac.uk/ena/data/view/CH236954 Ensembl ENST00000378120 http://www.ensembl.org/id/ENST00000378120 Ensembl ENST00000616210 http://www.ensembl.org/id/ENST00000616210 G-Links 9606 http://link.g-language.org/9606/format=tsv GeneCards BLACE http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BLACE GeneTree ENSGT00500000045650 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00500000045650 HGNC HGNC:20484 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20484 HOGENOM HOG000293194 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000293194&db=HOGENOM6 HOVERGEN HBG099261 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG099261&db=HOVERGEN HPA HPA041918 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041918 InParanoid A4D250 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A4D250 OMA SSGACAF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SSGACAF OrthoDB EOG091G0M9C http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M9C PSORT swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BLACE_HUMAN PSORT-B swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BLACE_HUMAN PSORT2 swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BLACE_HUMAN Phobius swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BLACE_HUMAN PhylomeDB A4D250 http://phylomedb.org/?seqid=A4D250 ProteinModelPortal A4D250 http://www.proteinmodelportal.org/query/uniprot/A4D250 PubMed 12690205 http://www.ncbi.nlm.nih.gov/pubmed/12690205 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 14667812 http://www.ncbi.nlm.nih.gov/pubmed/14667812 SMR A4D250 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=A4D250 STRING 9606.ENSP00000367360 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367360&targetmode=cogs UCSC uc033aqq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc033aqq&org=rat UniGene Hs.521326 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.521326 UniProtKB BLACE_HUMAN http://www.uniprot.org/uniprot/BLACE_HUMAN UniProtKB-AC A4D250 http://www.uniprot.org/uniprot/A4D250 charge swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BLACE_HUMAN eggNOG ENOG410KCGH http://eggnogapi.embl.de/nog_data/html/tree/ENOG410KCGH eggNOG ENOG4110NZQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110NZQ epestfind swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BLACE_HUMAN garnier swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BLACE_HUMAN helixturnhelix swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BLACE_HUMAN hmoment swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BLACE_HUMAN iep swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BLACE_HUMAN inforesidue swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BLACE_HUMAN neXtProt NX_A4D250 http://www.nextprot.org/db/entry/NX_A4D250 octanol swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BLACE_HUMAN pepcoil swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BLACE_HUMAN pepdigest swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BLACE_HUMAN pepinfo swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BLACE_HUMAN pepnet swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BLACE_HUMAN pepstats swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BLACE_HUMAN pepwheel swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BLACE_HUMAN pepwindow swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BLACE_HUMAN sigcleave swissprot:BLACE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BLACE_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TOPK_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96KB5-1; Sequence=Displayed; Name=2; IsoId=Q96KB5-2; Sequence=VSP_055269; Note=No experimental confirmation available.; # AltName TOPK_HUMAN Cancer/testis antigen 84 # AltName TOPK_HUMAN MAPKK-like protein kinase # AltName TOPK_HUMAN Nori-3 # AltName TOPK_HUMAN PDZ-binding kinase # AltName TOPK_HUMAN Spermatogenesis-related protein kinase # AltName TOPK_HUMAN T-LAK cell-originated protein kinase # BioGrid 120971 29 # CATALYTIC ACTIVITY TOPK_HUMAN ATP + a protein = ADP + a phosphoprotein. # CCDS CCDS6063 -. [Q96KB5-1] # CCDS CCDS64858 -. [Q96KB5-2] # ChiTaRS PBK human # ENZYME REGULATION Activated by phosphorylation. {ECO 0000250}. # Ensembl ENST00000301905 ENSP00000301905; ENSG00000168078. [Q96KB5-1] # Ensembl ENST00000522944 ENSP00000428489; ENSG00000168078. [Q96KB5-2] # ExpressionAtlas Q96KB5 baseline and differential # FUNCTION TOPK_HUMAN Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells. When phosphorylated, forms a complex with TP53, leading to TP53 destabilization and attenuation of G2/M checkpoint during doxorubicin-induced DNA damage. {ECO 0000269|PubMed 10781613, ECO 0000269|PubMed 17482142}. # GO_component GO:0005634 nucleus; IDA:CACAO. # GO_function GO:0004674 protein serine/threonine kinase activity; TAS:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_process GO:0007067 mitotic nuclear division; NAS:UniProtKB. # GO_process GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process; IEA:Ensembl. # GO_process GO:0032873 negative regulation of stress-activated MAPK cascade; IEA:Ensembl. # GO_process GO:0034644 cellular response to UV; IEA:Ensembl. # GO_process GO:0050728 negative regulation of inflammatory response; IEA:Ensembl. # GOslim_component GO:0005634 nucleus # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007067 mitotic nuclear division # GOslim_process GO:0008150 biological_process # Genevisible Q96KB5 HS # HGNC HGNC:18282 PBK # INTERACTION TOPK_HUMAN P10398 ARAF; NbExp=3; IntAct=EBI-536853, EBI-365961; P04637 TP53; NbExp=7; IntAct=EBI-536853, EBI-366083; # IntAct Q96KB5 11 # InterPro IPR000719 Prot_kinase_dom # InterPro IPR008271 Ser/Thr_kinase_AS # InterPro IPR011009 Kinase-like_dom # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01001 Protein kinases # MIM 611210 gene # Organism TOPK_HUMAN Homo sapiens (Human) # PDB 5J0A X-ray; 2.74 A; A=23-320, B=19-319 # PROSITE PS00108 PROTEIN_KINASE_ST # PROSITE PS50011 PROTEIN_KINASE_DOM # PTM TOPK_HUMAN Phosphorylated; in a cell-cycle dependent manner at mitosis. {ECO 0000269|PubMed 10779557, ECO 0000269|PubMed 10781613}. # Pfam PF00069 Pkinase # Proteomes UP000005640 Chromosome 8 # RecName TOPK_HUMAN Lymphokine-activated killer T-cell-originated protein kinase # RefSeq NP_001265874 NM_001278945.1. [Q96KB5-2] # RefSeq NP_060962 NM_018492.3. [Q96KB5-1] # RefSeq XP_006716431 XM_006716368.2. [Q96KB5-1] # SIMILARITY Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. {ECO 0000305}. # SIMILARITY Contains 1 protein kinase domain. {ECO:0000255|PROSITE-ProRule PRU00159}. # SMART SM00220 S_TKc # SUBUNIT TOPK_HUMAN Interacts with DLG1 and TP53. {ECO 0000269|PubMed 10779557, ECO 0000269|PubMed 17482142}. # SUPFAM SSF56112 SSF56112 # TISSUE SPECIFICITY TOPK_HUMAN Expressed in the testis and placenta. In the testis, restrictedly expressed in outer cell layer of seminiferous tubules. {ECO 0000269|PubMed 10781613, ECO 0000269|PubMed 11378444}. # UCSC uc011lap human. [Q96KB5-1] # eggNOG COG0515 LUCA # eggNOG KOG0192 Eukaryota BLAST swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TOPK_HUMAN BioCyc ZFISH:HS09691-MONOMER http://biocyc.org/getid?id=ZFISH:HS09691-MONOMER COXPRESdb 55872 http://coxpresdb.jp/data/gene/55872.shtml CleanEx HS_PBK http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PBK DOI 10.1016/S1357-2725(01)00005-X http://dx.doi.org/10.1016/S1357-2725(01)00005-X DOI 10.1016/j.bbrc.2007.04.125 http://dx.doi.org/10.1016/j.bbrc.2007.04.125 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/nature04406 http://dx.doi.org/10.1038/nature04406 DOI 10.1038/nature05610 http://dx.doi.org/10.1038/nature05610 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.090102397 http://dx.doi.org/10.1073/pnas.090102397 DOI 10.1074/jbc.M909629199 http://dx.doi.org/10.1074/jbc.M909629199 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 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EC_number EC:2.7.12.2 http://www.genome.jp/dbget-bin/www_bget?EC:2.7.12.2 EMBL AB027249 http://www.ebi.ac.uk/ena/data/view/AB027249 EMBL AB027250 http://www.ebi.ac.uk/ena/data/view/AB027250 EMBL AC104997 http://www.ebi.ac.uk/ena/data/view/AC104997 EMBL AF189722 http://www.ebi.ac.uk/ena/data/view/AF189722 EMBL AF237709 http://www.ebi.ac.uk/ena/data/view/AF237709 EMBL AK027291 http://www.ebi.ac.uk/ena/data/view/AK027291 EMBL AK301836 http://www.ebi.ac.uk/ena/data/view/AK301836 EMBL BC015191 http://www.ebi.ac.uk/ena/data/view/BC015191 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 EMBL CH471080 http://www.ebi.ac.uk/ena/data/view/CH471080 ENZYME 2.7.12.2 http://enzyme.expasy.org/EC/2.7.12.2 Ensembl ENST00000301905 http://www.ensembl.org/id/ENST00000301905 Ensembl ENST00000522944 http://www.ensembl.org/id/ENST00000522944 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_function GO:0004674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004674 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_process GO:0007067 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007067 GO_process GO:0032435 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032435 GO_process GO:0032873 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032873 GO_process GO:0034644 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034644 GO_process GO:0050728 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050728 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007067 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007067 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GeneCards PBK http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PBK GeneID 55872 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55872 GeneTree ENSGT00720000108839 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00720000108839 HGNC HGNC:18282 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18282 HOGENOM HOG000294208 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294208&db=HOGENOM6 HOVERGEN HBG056011 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056011&db=HOVERGEN HPA HPA005753 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA005753 InParanoid Q96KB5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96KB5 IntAct Q96KB5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96KB5* IntEnz 2.7.12.2 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.7.12.2 InterPro IPR000719 http://www.ebi.ac.uk/interpro/entry/IPR000719 InterPro IPR008271 http://www.ebi.ac.uk/interpro/entry/IPR008271 InterPro IPR011009 http://www.ebi.ac.uk/interpro/entry/IPR011009 Jabion 55872 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55872 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:55872 http://www.genome.jp/dbget-bin/www_bget?hsa:55872 KEGG_Orthology KO:K08865 http://www.genome.jp/dbget-bin/www_bget?KO:K08865 MIM 611210 http://www.ncbi.nlm.nih.gov/omim/611210 MINT MINT-130347 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-130347 OMA HMARGLK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HMARGLK OrthoDB EOG091G05V7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05V7 PDB 5J0A http://www.ebi.ac.uk/pdbe-srv/view/entry/5J0A PDBsum 5J0A http://www.ebi.ac.uk/pdbsum/5J0A PROSITE PS00108 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00108 PROSITE PS50011 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50011 PSORT swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TOPK_HUMAN PSORT-B swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TOPK_HUMAN PSORT2 swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TOPK_HUMAN Pfam PF00069 http://pfam.xfam.org/family/PF00069 PharmGKB PA134925802 http://www.pharmgkb.org/do/serve?objId=PA134925802&objCls=Gene Phobius swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TOPK_HUMAN PhylomeDB Q96KB5 http://phylomedb.org/?seqid=Q96KB5 ProteinModelPortal Q96KB5 http://www.proteinmodelportal.org/query/uniprot/Q96KB5 PubMed 10779557 http://www.ncbi.nlm.nih.gov/pubmed/10779557 PubMed 10781613 http://www.ncbi.nlm.nih.gov/pubmed/10781613 PubMed 11378444 http://www.ncbi.nlm.nih.gov/pubmed/11378444 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 17344846 http://www.ncbi.nlm.nih.gov/pubmed/17344846 PubMed 17482142 http://www.ncbi.nlm.nih.gov/pubmed/17482142 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 22223895 http://www.ncbi.nlm.nih.gov/pubmed/22223895 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_001265874 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265874 RefSeq NP_060962 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060962 RefSeq XP_006716431 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006716431 SMART SM00220 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00220 SMR Q96KB5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96KB5 STRING 9606.ENSP00000301905 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000301905&targetmode=cogs SUPFAM SSF56112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56112 UCSC uc011lap http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011lap&org=rat UniGene Hs.104741 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.104741 UniProtKB TOPK_HUMAN http://www.uniprot.org/uniprot/TOPK_HUMAN UniProtKB-AC Q96KB5 http://www.uniprot.org/uniprot/Q96KB5 charge swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TOPK_HUMAN eggNOG COG0515 http://eggnogapi.embl.de/nog_data/html/tree/COG0515 eggNOG KOG0192 http://eggnogapi.embl.de/nog_data/html/tree/KOG0192 epestfind swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TOPK_HUMAN garnier swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TOPK_HUMAN helixturnhelix swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TOPK_HUMAN hmoment swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TOPK_HUMAN iep swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TOPK_HUMAN inforesidue swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TOPK_HUMAN neXtProt NX_Q96KB5 http://www.nextprot.org/db/entry/NX_Q96KB5 octanol swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TOPK_HUMAN pepcoil swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TOPK_HUMAN pepdigest swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TOPK_HUMAN pepinfo swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TOPK_HUMAN pepnet swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TOPK_HUMAN pepstats swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TOPK_HUMAN pepwheel swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TOPK_HUMAN pepwindow swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TOPK_HUMAN sigcleave swissprot:TOPK_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TOPK_HUMAN ## Database ID URL or Descriptions # AltName GGT3_HUMAN Gamma-glutamyltransferase 3 # AltName GGT3_HUMAN Glutathione hydrolase 3 # CATALYTIC ACTIVITY GGT3_HUMAN A (5-L-glutamyl)-peptide + an amino acid = a peptide + a 5-L-glutamyl amino acid. # CATALYTIC ACTIVITY GGT3_HUMAN Glutathione + H(2)O = L-cysteinylglycine + L- glutamate. # CAUTION Could be the product of a pseudogene. According to PubMed:18357469, it is not functional. {ECO 0000305}. # FUNCTION GGT3_HUMAN Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors. {ECO 0000250}. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0031362 anchored component of external side of plasma membrane; TAS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0003840 gamma-glutamyltransferase activity; TAS:UniProtKB. # GO_function GO:0036374 glutathione hydrolase activity; IEA:UniProtKB-EC. # GO_process GO:0006749 glutathione metabolic process; TAS:UniProtKB. # GO_process GO:0006750 glutathione biosynthetic process; IEA:UniProtKB-KW. # GO_process GO:0019370 leukotriene biosynthetic process; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0016746 transferase activity, transferring acyl groups # GOslim_process GO:0006629 lipid metabolic process # 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 # HGNC HGNC:4252 GGT3P # InterPro IPR000101 GGT_peptidase # InterPro IPR029055 Ntn_hydrolases_N # MISCELLANEOUS GGT3_HUMAN In some epileptic patients treated with phenytoin, phenobarbital and carbamazepin, GGT3 is found, as an additional form of GGT. This group of patients has levels of ceruloplasmin and oxidase activity that were significantly higher than in the group of patients without GGT3. However, levels of ceruloplasmin and oxidase activity are significantly higher in this group of patients without GGT3 than those of the control group. # Organism GGT3_HUMAN Homo sapiens (Human) # PANTHER PTHR11686 PTHR11686 # PATHWAY GGT3_HUMAN Sulfur metabolism; glutathione metabolism. # PRINTS PR01210 GGTRANSPTASE # PROSITE PS00462 G_GLU_TRANSPEPTIDASE # PTM GGT3_HUMAN Cleaved by autocatalysis into a large and a small subunit. {ECO 0000250}. # Pfam PF01019 G_glu_transpept # Proteomes UP000005640 Unplaced # Reactome R-HSA-174403 Glutathione synthesis and recycling # Reactome R-HSA-5423646 Aflatoxin activation and detoxification # RecName GGT3_HUMAN Putative gamma-glutamyltranspeptidase 3 # RecName GGT3_HUMAN Putative gamma-glutamyltranspeptidase 3 heavy chain # RecName GGT3_HUMAN Putative gamma-glutamyltranspeptidase 3 heavy chain # RecName GGT3_HUMAN Putative gamma-glutamyltranspeptidase 3 light chain # SIMILARITY Belongs to the gamma-glutamyltransferase family. {ECO 0000305}. # SUBCELLULAR LOCATION GGT3_HUMAN Membrane {ECO 0000250}; Single-pass type II membrane protein {ECO 0000250}. # SUPFAM SSF56235 SSF56235 # TIGRFAMs TIGR00066 g_glut_trans # eggNOG COG0405 LUCA # eggNOG KOG2410 Eukaryota BLAST swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GGT3_HUMAN BioCyc ZFISH:G66-32539-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32539-MONOMER DOI 10.1007/s00439-008-0487-7 http://dx.doi.org/10.1007/s00439-008-0487-7 DOI 10.1016/j.eplepsyres.2003.08.008 http://dx.doi.org/10.1016/j.eplepsyres.2003.08.008 DOI 10.1038/990031 http://dx.doi.org/10.1038/990031 EC_number EC:2.3.2.2 http://www.genome.jp/dbget-bin/www_bget?EC:2.3.2.2 EC_number EC:3.4.19.13 http://www.genome.jp/dbget-bin/www_bget?EC:3.4.19.13 EMBL AC008132 http://www.ebi.ac.uk/ena/data/view/AC008132 ENZYME 2.3.2.2 http://enzyme.expasy.org/EC/2.3.2.2 ENZYME 3.4.19.13 http://enzyme.expasy.org/EC/3.4.19.13 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:0031362 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031362 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0003840 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003840 GO_function GO:0036374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036374 GO_process GO:0006749 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006749 GO_process GO:0006750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006750 GO_process GO:0019370 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019370 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:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GOslim_function GO:0016746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016746 GOslim_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 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 GGT3P http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GGT3P HGNC HGNC:4252 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4252 HOVERGEN HBG005835 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005835&db=HOVERGEN HPA HPA045635 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA045635 HPA HPA047534 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047534 InParanoid A6NGU5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NGU5 IntEnz 2.3.2.2 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.2.2 IntEnz 3.4.19.13 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.4.19.13 InterPro IPR000101 http://www.ebi.ac.uk/interpro/entry/IPR000101 InterPro IPR029055 http://www.ebi.ac.uk/interpro/entry/IPR029055 PANTHER PTHR11686 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11686 PRINTS PR01210 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01210 PROSITE PS00462 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00462 PSORT swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GGT3_HUMAN PSORT-B swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GGT3_HUMAN PSORT2 swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GGT3_HUMAN Pfam PF01019 http://pfam.xfam.org/family/PF01019 Phobius swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GGT3_HUMAN ProteinModelPortal A6NGU5 http://www.proteinmodelportal.org/query/uniprot/A6NGU5 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 PubMed 14642999 http://www.ncbi.nlm.nih.gov/pubmed/14642999 PubMed 18357469 http://www.ncbi.nlm.nih.gov/pubmed/18357469 Reactome R-HSA-174403 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-174403 Reactome R-HSA-5423646 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5423646 SMR A6NGU5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=A6NGU5 STRING 9606.ENSP00000385721 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000385721&targetmode=cogs SUPFAM SSF56235 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56235 TIGRFAMs TIGR00066 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00066 UniGene Hs.595809 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.595809 UniProtKB GGT3_HUMAN http://www.uniprot.org/uniprot/GGT3_HUMAN UniProtKB-AC A6NGU5 http://www.uniprot.org/uniprot/A6NGU5 charge swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GGT3_HUMAN eggNOG COG0405 http://eggnogapi.embl.de/nog_data/html/tree/COG0405 eggNOG KOG2410 http://eggnogapi.embl.de/nog_data/html/tree/KOG2410 epestfind swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GGT3_HUMAN garnier swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GGT3_HUMAN helixturnhelix swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GGT3_HUMAN hmoment swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GGT3_HUMAN iep swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GGT3_HUMAN inforesidue swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GGT3_HUMAN neXtProt NX_A6NGU5 http://www.nextprot.org/db/entry/NX_A6NGU5 octanol swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GGT3_HUMAN pepcoil swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GGT3_HUMAN pepdigest swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GGT3_HUMAN pepinfo swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GGT3_HUMAN pepnet swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GGT3_HUMAN pepstats swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GGT3_HUMAN pepwheel swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GGT3_HUMAN pepwindow swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GGT3_HUMAN sigcleave swissprot:GGT3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GGT3_HUMAN ## Database ID URL or Descriptions # AltName ZBT46_HUMAN BTB-ZF protein expressed in effector lymphocytes # AltName ZBT46_HUMAN BTB/POZ domain-containing protein 4 # AltName ZBT46_HUMAN Zinc finger protein 340 # BioGrid 126648 23 # ChiTaRS ZBTB46 human # Ensembl ENST00000245663 ENSP00000245663; ENSG00000130584 # Ensembl ENST00000302995 ENSP00000303102; ENSG00000130584 # Ensembl ENST00000395104 ENSP00000378536; ENSG00000130584 # FUNCTION ZBT46_HUMAN Function as a transcriptional repressor for PRDM1. {ECO 0000250}. # GO_component GO:0005634 nucleus; IEA:UniProtKB-SubCell. # GO_function GO:0003676 nucleic acid binding; IEA:InterPro. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0006355 regulation of transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0030853 negative regulation of granulocyte differentiation; IEA:Ensembl. # GO_process GO:0045650 negative regulation of macrophage differentiation; IEA:Ensembl. # GO_process GO:0045656 negative regulation of monocyte differentiation; IEA:Ensembl. # GO_process GO:2001199 negative regulation of dendritic cell differentiation; IEA:Ensembl. # GO_process GO:2001200 positive regulation of dendritic cell differentiation; IEA:Ensembl. # GOslim_component GO:0005634 nucleus # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Gene3D 3.30.160.60 -; 2. # Genevisible Q86UZ6 HS # HGNC HGNC:16094 ZBTB46 # InterPro IPR000210 BTB/POZ_dom # InterPro IPR007087 Znf_C2H2 # InterPro IPR011333 SKP1/BTB/POZ # InterPro IPR013087 Znf_C2H2/integrase_DNA-bd # InterPro IPR015880 Znf_C2H2-like # KEGG_Brite ko04121 Ubiquitin system # MIM 614639 gene # Organism ZBT46_HUMAN Homo sapiens (Human) # PROSITE PS00028 ZINC_FINGER_C2H2_1 # PROSITE PS50097 BTB # PROSITE PS50157 ZINC_FINGER_C2H2_2; 2 # PTM ZBT46_HUMAN Sumoylated. Desumoylation by PPPDE2 reverses transcriptional repression activity (By similarity). {ECO 0000250}. # Pfam PF00651 BTB # Proteomes UP000005640 Chromosome 20 # RecName ZBT46_HUMAN Zinc finger and BTB domain-containing protein 46 # RefSeq NP_079500 NM_025224.3 # RefSeq XP_005260252 XM_005260195.4 # RefSeq XP_005260253 XM_005260196.3 # RefSeq XP_005260254 XM_005260197.4 # RefSeq XP_005260255 XM_005260198.4 # RefSeq XP_006723763 XM_006723700.3 # RefSeq XP_011526850 XM_011528548.2 # SIMILARITY Contains 1 BTB (POZ) domain. {ECO:0000255|PROSITE- ProRule PRU00037}. # SIMILARITY Contains 2 C2H2-type zinc fingers. {ECO:0000255|PROSITE-ProRule PRU00042}. # SMART SM00225 BTB # SMART SM00355 ZnF_C2H2; 3 # SUBCELLULAR LOCATION ZBT46_HUMAN Nucleus {ECO 0000305}. # SUPFAM SSF54695 SSF54695 # UCSC uc061ypq human # eggNOG COG5048 LUCA # eggNOG KOG1721 Eukaryota BLAST swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZBT46_HUMAN COXPRESdb 140685 http://coxpresdb.jp/data/gene/140685.shtml CleanEx HS_ZBTB46 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ZBTB46 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/nsmb.2890 http://dx.doi.org/10.1038/nsmb.2890 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AL121845 http://www.ebi.ac.uk/ena/data/view/AL121845 EMBL BC052269 http://www.ebi.ac.uk/ena/data/view/BC052269 EMBL BC073800 http://www.ebi.ac.uk/ena/data/view/BC073800 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 Ensembl ENST00000245663 http://www.ensembl.org/id/ENST00000245663 Ensembl ENST00000302995 http://www.ensembl.org/id/ENST00000302995 Ensembl ENST00000395104 http://www.ensembl.org/id/ENST00000395104 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_function GO:0003676 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003676 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 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:0030853 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030853 GO_process GO:0045650 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045650 GO_process GO:0045656 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045656 GO_process GO:2001199 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001199 GO_process GO:2001200 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001200 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 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: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 3.30.160.60 http://www.cathdb.info/version/latest/superfamily/3.30.160.60 GeneCards ZBTB46 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZBTB46 GeneID 140685 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=140685 GeneTree ENSGT00850000132251 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132251 HGNC HGNC:16094 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16094 HOVERGEN HBG079368 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG079368&db=HOVERGEN HPA HPA013997 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA013997 InParanoid Q86UZ6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q86UZ6 InterPro IPR000210 http://www.ebi.ac.uk/interpro/entry/IPR000210 InterPro IPR007087 http://www.ebi.ac.uk/interpro/entry/IPR007087 InterPro IPR011333 http://www.ebi.ac.uk/interpro/entry/IPR011333 InterPro IPR013087 http://www.ebi.ac.uk/interpro/entry/IPR013087 InterPro IPR015880 http://www.ebi.ac.uk/interpro/entry/IPR015880 Jabion 140685 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=140685 KEGG_Brite ko04121 http://www.genome.jp/dbget-bin/www_bget?ko04121 KEGG_Gene hsa:140685 http://www.genome.jp/dbget-bin/www_bget?hsa:140685 KEGG_Orthology KO:K10517 http://www.genome.jp/dbget-bin/www_bget?KO:K10517 MIM 614639 http://www.ncbi.nlm.nih.gov/omim/614639 OMA TSGWPFS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TSGWPFS OrthoDB EOG091G05WK http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05WK PROSITE PS00028 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00028 PROSITE PS50097 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50097 PROSITE PS50157 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50157 PSORT swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZBT46_HUMAN PSORT-B swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZBT46_HUMAN PSORT2 swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZBT46_HUMAN Pfam PF00651 http://pfam.xfam.org/family/PF00651 PharmGKB PA25441 http://www.pharmgkb.org/do/serve?objId=PA25441&objCls=Gene Phobius swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZBT46_HUMAN PhylomeDB Q86UZ6 http://phylomedb.org/?seqid=Q86UZ6 ProteinModelPortal Q86UZ6 http://www.proteinmodelportal.org/query/uniprot/Q86UZ6 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25218447 http://www.ncbi.nlm.nih.gov/pubmed/25218447 RefSeq NP_079500 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079500 RefSeq XP_005260252 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005260252 RefSeq XP_005260253 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005260253 RefSeq XP_005260254 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005260254 RefSeq XP_005260255 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005260255 RefSeq XP_006723763 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006723763 RefSeq XP_011526850 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011526850 SMART SM00225 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00225 SMART SM00355 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00355 SMR Q86UZ6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q86UZ6 STRING 9606.ENSP00000245663 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000245663&targetmode=cogs SUPFAM SSF54695 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54695 UCSC uc061ypq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc061ypq&org=rat UniGene Hs.585028 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.585028 UniProtKB ZBT46_HUMAN http://www.uniprot.org/uniprot/ZBT46_HUMAN UniProtKB-AC Q86UZ6 http://www.uniprot.org/uniprot/Q86UZ6 charge swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZBT46_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:ZBT46_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZBT46_HUMAN garnier swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZBT46_HUMAN helixturnhelix swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZBT46_HUMAN hmoment swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZBT46_HUMAN iep swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZBT46_HUMAN inforesidue swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZBT46_HUMAN neXtProt NX_Q86UZ6 http://www.nextprot.org/db/entry/NX_Q86UZ6 octanol swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZBT46_HUMAN pepcoil swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZBT46_HUMAN pepdigest swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZBT46_HUMAN pepinfo swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZBT46_HUMAN pepnet swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZBT46_HUMAN pepstats swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZBT46_HUMAN pepwheel swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZBT46_HUMAN pepwindow swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZBT46_HUMAN sigcleave swissprot:ZBT46_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZBT46_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 # ALTERNATIVE PRODUCTS OMA1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96E52-1; Sequence=Displayed; Name=2; IsoId=Q96E52-2; Sequence=VSP_027958; Note=No experimental confirmation available.; # AltName OMA1_HUMAN Metalloprotease-related protein 1 # AltName OMA1_HUMAN Overlapping with the m-AAA protease 1 homolog # BioGrid 125420 20 # CAUTION OMA1_HUMAN Was initially reported to localize in the endoplasmic reticulum (PubMed 12886954). However, it was later shown that it localizes to mitochondrion (PubMed 20038677). {ECO 0000305|PubMed 12886954, ECO 0000305|PubMed 20038677}. # CCDS CCDS608 -. [Q96E52-1] # COFACTOR OMA1_HUMAN Name=Zn(2+); Xref=ChEBI CHEBI 29105; Evidence={ECO 0000305}; Note=Binds 1 zinc ion per subunit. {ECO 0000305}; # Ensembl ENST00000371226 ENSP00000360270; ENSG00000162600. [Q96E52-1] # ExpressionAtlas Q96E52 baseline and differential # FUNCTION OMA1_HUMAN Metalloprotease that is part of the quality control system in the inner membrane of mitochondria. Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion. May also cleave UQCC3 under these conditions. Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions. {ECO 0000250|UniProtKB Q9D8H7, ECO 0000269|PubMed 20038677}. # 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; IDA:UniProtKB. # GO_function GO:0004222 metalloendopeptidase activity; IMP:UniProtKB. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0002024 diet induced thermogenesis; IMP:UniProtKB. # GO_process GO:0006006 glucose metabolic process; IMP:UniProtKB. # GO_process GO:0006515 misfolded or incompletely synthesized protein catabolic process; IMP:UniProtKB. # GO_process GO:0006629 lipid metabolic process; IMP:UniProtKB. # GO_process GO:0006950 response to stress; IDA:UniProtKB. # GO_process GO:0010637 negative regulation of mitochondrial fusion; IMP:UniProtKB. # GO_process GO:0034982 mitochondrial protein processing; IMP:UniProtKB. # GO_process GO:0042407 cristae formation; IEA:Ensembl. # GO_process GO:0097009 energy homeostasis; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007005 mitochondrion organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0051604 protein maturation # GOslim_process GO:0061024 membrane organization # Genevisible Q96E52 HS # HGNC HGNC:29661 OMA1 # InterPro IPR001915 Peptidase_M48 # Organism OMA1_HUMAN Homo sapiens (Human) # PROSITE PS00142 ZINC_PROTEASE # PTM OMA1_HUMAN In normal conditions, cleaved into an inactive 40 kDa form. Following CCCP treatment that induces loss of mitochondrial membrane potential, the 40 kDa form is reduced in favor of an active 60 kDa form. {ECO 0000269|PubMed 20038677}. # Pfam PF01435 Peptidase_M48 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-169911 Regulation of Apoptosis # RecName OMA1_HUMAN Metalloendopeptidase OMA1, mitochondrial # RefSeq NP_660286 NM_145243.4. [Q96E52-1] # SEQUENCE CAUTION OMA1_HUMAN Sequence=BAC03583.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAI13522.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI13523.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI13524.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI13525.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI13526.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=CAI22238.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the peptidase M48 family. {ECO 0000305}. # SUBCELLULAR LOCATION OMA1_HUMAN Mitochondrion inner membrane {ECO 0000305|PubMed 20038677}; Multi-pass membrane protein {ECO 0000305|PubMed 20038677}. # TISSUE SPECIFICITY Widely expressed, with strong expression in the heart, skeletal muscle, kidney and liver. {ECO:0000269|PubMed 12886954}. # UCSC uc001cyy human. [Q96E52-1] # eggNOG COG0501 LUCA # eggNOG KOG2661 Eukaryota BLAST swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:OMA1_HUMAN COXPRESdb 115209 http://coxpresdb.jp/data/gene/115209.shtml CleanEx HS_OMA1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_OMA1 DOI 10.1001/archneurol.2010.351 http://dx.doi.org/10.1001/archneurol.2010.351 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 10.1083/jcb.200906083 http://dx.doi.org/10.1083/jcb.200906083 DOI 10.1093/dnares/10.3.123 http://dx.doi.org/10.1093/dnares/10.3.123 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/MCB.01047-14 http://dx.doi.org/10.1128/MCB.01047-14 EC_number EC:3.4.24.- http://www.genome.jp/dbget-bin/www_bget?EC:3.4.24.- EMBL AB048348 http://www.ebi.ac.uk/ena/data/view/AB048348 EMBL AK091101 http://www.ebi.ac.uk/ena/data/view/AK091101 EMBL AL109845 http://www.ebi.ac.uk/ena/data/view/AL109845 EMBL AL109845 http://www.ebi.ac.uk/ena/data/view/AL109845 EMBL AL109845 http://www.ebi.ac.uk/ena/data/view/AL109845 EMBL AL109845 http://www.ebi.ac.uk/ena/data/view/AL109845 EMBL AL365187 http://www.ebi.ac.uk/ena/data/view/AL365187 EMBL AL365187 http://www.ebi.ac.uk/ena/data/view/AL365187 EMBL AL365187 http://www.ebi.ac.uk/ena/data/view/AL365187 EMBL AL365187 http://www.ebi.ac.uk/ena/data/view/AL365187 EMBL AL365187 http://www.ebi.ac.uk/ena/data/view/AL365187 EMBL AL365187 http://www.ebi.ac.uk/ena/data/view/AL365187 EMBL AL365187 http://www.ebi.ac.uk/ena/data/view/AL365187 EMBL AL365187 http://www.ebi.ac.uk/ena/data/view/AL365187 EMBL BC012915 http://www.ebi.ac.uk/ena/data/view/BC012915 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 ENZYME 3.4.24.- http://enzyme.expasy.org/EC/3.4.24.- Ensembl ENST00000371226 http://www.ensembl.org/id/ENST00000371226 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:0004222 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004222 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0002024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002024 GO_process GO:0006006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006006 GO_process GO:0006515 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006515 GO_process GO:0006629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629 GO_process GO:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GO_process GO:0010637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010637 GO_process GO:0034982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034982 GO_process GO:0042407 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042407 GO_process GO:0097009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097009 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 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: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: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:0051604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051604 GOslim_process GO:0061024 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024 GeneCards OMA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=OMA1 GeneID 115209 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=115209 GeneTree ENSGT00390000007027 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000007027 H-InvDB HIX0077405 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0077405 HGNC HGNC:29661 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29661 HOVERGEN HBG096685 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG096685&db=HOVERGEN HPA HPA055120 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055120 InParanoid Q96E52 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96E52 IntAct Q96E52 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96E52* IntEnz 3.4.24 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.4.24 InterPro IPR001915 http://www.ebi.ac.uk/interpro/entry/IPR001915 Jabion 115209 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=115209 KEGG_Gene hsa:115209 http://www.genome.jp/dbget-bin/www_bget?hsa:115209 OMA FAIIVGR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FAIIVGR OrthoDB EOG091G087J http://cegg.unige.ch/orthodb/results?searchtext=EOG091G087J PROSITE PS00142 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00142 PSORT swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:OMA1_HUMAN PSORT-B swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:OMA1_HUMAN PSORT2 swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:OMA1_HUMAN Pfam PF01435 http://pfam.xfam.org/family/PF01435 PharmGKB PA134911478 http://www.pharmgkb.org/do/serve?objId=PA134911478&objCls=Gene Phobius swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:OMA1_HUMAN PhylomeDB Q96E52 http://phylomedb.org/?seqid=Q96E52 ProteinModelPortal Q96E52 http://www.proteinmodelportal.org/query/uniprot/Q96E52 PubMed 12886954 http://www.ncbi.nlm.nih.gov/pubmed/12886954 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 20038677 http://www.ncbi.nlm.nih.gov/pubmed/20038677 PubMed 21220648 http://www.ncbi.nlm.nih.gov/pubmed/21220648 PubMed 25605331 http://www.ncbi.nlm.nih.gov/pubmed/25605331 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-169911 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-169911 RefSeq NP_660286 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_660286 STRING 9606.ENSP00000360270 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000360270&targetmode=cogs UCSC uc001cyy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001cyy&org=rat UniGene Hs.425769 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.425769 UniProtKB OMA1_HUMAN http://www.uniprot.org/uniprot/OMA1_HUMAN UniProtKB-AC Q96E52 http://www.uniprot.org/uniprot/Q96E52 charge swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:OMA1_HUMAN eggNOG COG0501 http://eggnogapi.embl.de/nog_data/html/tree/COG0501 eggNOG KOG2661 http://eggnogapi.embl.de/nog_data/html/tree/KOG2661 epestfind swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:OMA1_HUMAN garnier swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:OMA1_HUMAN helixturnhelix swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:OMA1_HUMAN hmoment swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:OMA1_HUMAN iep swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:OMA1_HUMAN inforesidue swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:OMA1_HUMAN neXtProt NX_Q96E52 http://www.nextprot.org/db/entry/NX_Q96E52 octanol swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:OMA1_HUMAN pepcoil swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:OMA1_HUMAN pepdigest swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:OMA1_HUMAN pepinfo swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:OMA1_HUMAN pepnet swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:OMA1_HUMAN pepstats swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:OMA1_HUMAN pepwheel swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:OMA1_HUMAN pepwindow swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:OMA1_HUMAN sigcleave swissprot:OMA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:OMA1_HUMAN ## Database ID URL or Descriptions # AltName OR9A1_HUMAN HSHTPRX06 # CAUTION Could be the product of a pseudogene. Much shorter than related proteins. {ECO 0000305}. # FUNCTION OR9A1_HUMAN Odorant receptor. {ECO 0000305}. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0004930 G-protein coupled receptor activity; IBA:GO_Central. # GO_function GO:0004984 olfactory receptor activity; IEA:InterPro. # GO_process GO:0007166 cell surface receptor signaling pathway; IBA:GO_Central. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0004871 signal transducer activity # GOslim_process GO:0007165 signal transduction # HGNC HGNC:8486 OR9A1P # InterPro IPR000276 GPCR_Rhodpsn # InterPro IPR000725 Olfact_rcpt # InterPro IPR017452 GPCR_Rhodpsn_7TM # Organism OR9A1_HUMAN Homo sapiens (Human) # PRINTS PR00237 GPCRRHODOPSN # PRINTS PR00245 OLFACTORYR # PROSITE PS00237 G_PROTEIN_RECEP_F1_1 # PROSITE PS50262 G_PROTEIN_RECEP_F1_2 # Proteomes UP000005640 Unplaced # Reactome R-HSA-381753 Olfactory Signaling Pathway # RecName OR9A1_HUMAN Putative olfactory receptor 9A1 # SEQUENCE CAUTION Sequence=BAC05913.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Belongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule PRU00521}. # SUBCELLULAR LOCATION OR9A1_HUMAN Cell membrane; Multi-pass membrane protein. # WEB RESOURCE OR9A1_HUMAN Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http //genome.weizmann.ac.il/horde/card/index/symbol OR9A1P"; BLAST swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:OR9A1_HUMAN BioCyc ZFISH:G66-32247-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32247-MONOMER DOI 10.1038/355453a0 http://dx.doi.org/10.1038/355453a0 EMBL AB065690 http://www.ebi.ac.uk/ena/data/view/AB065690 EMBL X64982 http://www.ebi.ac.uk/ena/data/view/X64982 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:0004930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004930 GO_function GO:0004984 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004984 GO_process GO:0007166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 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_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GeneCards OR9A1P http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=OR9A1P HGNC HGNC:8486 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8486 HOVERGEN HBG017625 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG017625&db=HOVERGEN InParanoid Q8NGU1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NGU1 InterPro IPR000276 http://www.ebi.ac.uk/interpro/entry/IPR000276 InterPro IPR000725 http://www.ebi.ac.uk/interpro/entry/IPR000725 InterPro IPR017452 http://www.ebi.ac.uk/interpro/entry/IPR017452 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 PR00245 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00245 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:OR9A1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:OR9A1_HUMAN PSORT-B swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:OR9A1_HUMAN PSORT2 swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:OR9A1_HUMAN Phobius swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:OR9A1_HUMAN PhylomeDB Q8NGU1 http://phylomedb.org/?seqid=Q8NGU1 ProteinModelPortal Q8NGU1 http://www.proteinmodelportal.org/query/uniprot/Q8NGU1 PubMed 1370859 http://www.ncbi.nlm.nih.gov/pubmed/1370859 Reactome R-HSA-381753 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-381753 UniGene Hs.544835 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.544835 UniProtKB OR9A1_HUMAN http://www.uniprot.org/uniprot/OR9A1_HUMAN UniProtKB-AC Q8NGU1 http://www.uniprot.org/uniprot/Q8NGU1 charge swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:OR9A1_HUMAN epestfind swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:OR9A1_HUMAN garnier swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:OR9A1_HUMAN helixturnhelix swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:OR9A1_HUMAN hmoment swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:OR9A1_HUMAN iep swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:OR9A1_HUMAN inforesidue swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:OR9A1_HUMAN neXtProt NX_Q8NGU1 http://www.nextprot.org/db/entry/NX_Q8NGU1 octanol swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:OR9A1_HUMAN pepcoil swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:OR9A1_HUMAN pepdigest swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:OR9A1_HUMAN pepinfo swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:OR9A1_HUMAN pepnet swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:OR9A1_HUMAN pepstats swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:OR9A1_HUMAN pepwheel swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:OR9A1_HUMAN pepwindow swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:OR9A1_HUMAN sigcleave swissprot:OR9A1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:OR9A1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS THTM_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P25325-1; Sequence=Displayed; Name=2; IsoId=P25325-2; Sequence=VSP_055027; Note=Contains a phosphoserine at position 15. Contains a phosphoserine at position 23. {ECO 0000244|PubMed 18669648, ECO 0000244|PubMed 24275569}; # BRENDA 2.8.1 2681 # BioGrid 110497 15 # CATALYTIC ACTIVITY THTM_HUMAN 3-mercaptopyruvate + cyanide = pyruvate + thiocyanate. # CAUTION Was originally thought to be rhodanese. {ECO:0000305|PubMed 1953758}. # CCDS CCDS13939 -. [P25325-1] # CCDS CCDS46703 -. [P25325-2] # ChiTaRS MPST human # DISEASE THTM_HUMAN Note=Aberrant MPST activity is found in a few cases of mercaptolactate-cysteine disulfiduria (MCDU) characterized by the appearance of large quantaties of the sulfur-containing amino acid, beta-mercaptolactate-cysteine disulfide, in the urine (PubMed 4973015, PubMed 4690911 and PubMed 6945862). Some cases have associated mental retardation (PubMed 4973015 and PubMed 6945862). # DOMAIN THTM_HUMAN Contains two rhodanese domains with different primary structures but with near identical secondary structure conformations suggesting a common evolutionary origin. Only the C- terminal rhodanese domain contains the catalytic cysteine residue (By similarity). {ECO 0000250}. # ENZYME REGULATION THTM_HUMAN By oxidative stress, and thioredoxin. Under oxidative stress conditions, the catalytic cysteine site is converted to a sulfenate which inhibits the MPST enzyme activity. Reduced thioredoxin cleaves an intersubunit disulfide bond to turn on the redox switch and reactivate the enzyme. # Ensembl ENST00000341116 ENSP00000342333; ENSG00000128309. [P25325-1] # Ensembl ENST00000397225 ENSP00000380402; ENSG00000128309. [P25325-1] # Ensembl ENST00000401419 ENSP00000384812; ENSG00000128309. [P25325-1] # Ensembl ENST00000404802 ENSP00000383950; ENSG00000128309. [P25325-1] # Ensembl ENST00000429360 ENSP00000411719; ENSG00000128309. [P25325-2] # ExpressionAtlas P25325 baseline and differential # FUNCTION THTM_HUMAN Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the 3MST/CAT pathway is regulated by calcium ions (By similarity). {ECO 0000250}. # GO_component GO:0005739 mitochondrion; IEA:UniProtKB-SubCell. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0043005 neuron projection; ISS:UniProtKB. # GO_component GO:0045202 synapse; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004792 thiosulfate sulfurtransferase activity; TAS:ProtInc. # GO_function GO:0016784 3-mercaptopyruvate sulfurtransferase activity; IEA:UniProtKB-EC. # GO_process GO:0001822 kidney development; IEA:Ensembl. # GO_process GO:0001889 liver development; IEA:Ensembl. # GO_process GO:0009440 cyanate catabolic process; TAS:ProtInc. # GO_process GO:0009636 response to toxic substance; TAS:ProtInc. # GO_process GO:0019346 transsulfuration; IEA:Ensembl. # GO_process GO:0021510 spinal cord development; IEA:Ensembl. # GO_process GO:0070814 hydrogen sulfide biosynthetic process; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_process GO:0006520 cellular amino acid metabolic process # GOslim_process GO:0006790 sulfur compound metabolic process # 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:0044281 small molecule metabolic process # GOslim_process GO:0048856 anatomical structure development # Gene3D 3.40.250.10 -; 2. # Genevisible P25325 HS # HGNC HGNC:7223 MPST # IntAct P25325 2 # InterPro IPR001307 Thiosulphate_STrfase_CS # InterPro IPR001763 Rhodanese-like_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00270 Cysteine and methionine metabolism # KEGG_Pathway ko04122 Sulfur relay system # MIM 249650 phenotype # MIM 602496 gene # MISCELLANEOUS Thioredoxin (Trx) or dihydrolipoic acid (DHLA) are required to release hydrogen sulfide from the persulfide intermediate. {ECO 0000250}. # Organism THTM_HUMAN Homo sapiens (Human) # PDB 3OLH X-ray; 2.50 A; A=11-289 # PDB 4JGT X-ray; 2.16 A; A/B/C=11-289 # PIR JH0461 ROHU # PROSITE PS00380 RHODANESE_1 # PROSITE PS00683 RHODANESE_2 # PROSITE PS50206 RHODANESE_3; 2 # Pfam PF00581 Rhodanese; 2 # Proteomes UP000005640 Chromosome 22 # RecName THTM_HUMAN 3-mercaptopyruvate sulfurtransferase # RefSeq NP_001013454 NM_001013436.2. [P25325-1] # RefSeq NP_001123989 NM_001130517.2. [P25325-1] # RefSeq NP_066949 NM_021126.5. [P25325-2] # RefSeq XP_005261667 XM_005261610.3. [P25325-1] # SEQUENCE CAUTION Sequence=AAH16737.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAG30409.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Contains 2 rhodanese domains. {ECO:0000255|PROSITE- ProRule PRU00173}. # SMART SM00450 RHOD; 2 # SUBCELLULAR LOCATION THTM_HUMAN Cytoplasm {ECO 0000250}. Mitochondrion {ECO 0000250}. Cell junction, synapse, synaptosome {ECO 0000250}. # SUBUNIT Monomer; active form. Homodimer; disulfide-linked, inactive form. {ECO 0000250}. # SUPFAM SSF52821 SSF52821; 2 # UCSC uc003aql human. [P25325-1] # eggNOG COG2897 LUCA # eggNOG KOG1529 Eukaryota BLAST swissprot:THTM_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:THTM_HUMAN BioCyc MetaCyc:HS05177-MONOMER http://biocyc.org/getid?id=MetaCyc:HS05177-MONOMER BioCyc ZFISH:HS05177-MONOMER http://biocyc.org/getid?id=ZFISH:HS05177-MONOMER COG COG2897 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG2897 COXPRESdb 4357 http://coxpresdb.jp/data/gene/4357.shtml CleanEx HS_MPST http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MPST DIP DIP-613N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-613N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0006-2944(81)90035-1 http://dx.doi.org/10.1016/0006-2944(81)90035-1 DOI 10.1016/0009-8981(73)90480-4 http://dx.doi.org/10.1016/0009-8981(73)90480-4 DOI 10.1016/S0006-291X(05)81148-9 http://dx.doi.org/10.1016/S0006-291X(05)81148-9 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 10.1038/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 10.1186/1752-0509-5-17 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 EC_number EC:2.8.1.2 http://www.genome.jp/dbget-bin/www_bget?EC:2.8.1.2 EMBL AK055733 http://www.ebi.ac.uk/ena/data/view/AK055733 EMBL BC003508 http://www.ebi.ac.uk/ena/data/view/BC003508 EMBL BC016737 http://www.ebi.ac.uk/ena/data/view/BC016737 EMBL BC018717 http://www.ebi.ac.uk/ena/data/view/BC018717 EMBL BT019636 http://www.ebi.ac.uk/ena/data/view/BT019636 EMBL CH471095 http://www.ebi.ac.uk/ena/data/view/CH471095 EMBL CH471095 http://www.ebi.ac.uk/ena/data/view/CH471095 EMBL CH471095 http://www.ebi.ac.uk/ena/data/view/CH471095 EMBL CR456523 http://www.ebi.ac.uk/ena/data/view/CR456523 EMBL CR541712 http://www.ebi.ac.uk/ena/data/view/CR541712 EMBL X59434 http://www.ebi.ac.uk/ena/data/view/X59434 EMBL Z73420 http://www.ebi.ac.uk/ena/data/view/Z73420 ENZYME 2.8.1.2 http://enzyme.expasy.org/EC/2.8.1.2 Ensembl ENST00000341116 http://www.ensembl.org/id/ENST00000341116 Ensembl ENST00000397225 http://www.ensembl.org/id/ENST00000397225 Ensembl ENST00000401419 http://www.ensembl.org/id/ENST00000401419 Ensembl ENST00000404802 http://www.ensembl.org/id/ENST00000404802 Ensembl ENST00000429360 http://www.ensembl.org/id/ENST00000429360 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: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:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 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:0004792 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004792 GO_function GO:0016784 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016784 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:0009440 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009440 GO_process GO:0009636 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009636 GO_process GO:0019346 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019346 GO_process GO:0021510 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021510 GO_process GO:0070814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070814 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: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_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: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: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 3.40.250.10 http://www.cathdb.info/version/latest/superfamily/3.40.250.10 GeneCards MPST http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MPST GeneID 4357 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4357 GeneTree ENSGT00510000046773 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046773 HGNC HGNC:7223 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7223 HOGENOM HOG000157237 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000157237&db=HOGENOM6 HOVERGEN HBG002345 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002345&db=HOVERGEN HPA HPA001240 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001240 InParanoid P25325 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P25325 IntAct P25325 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P25325* IntEnz 2.8.1.2 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.8.1.2 InterPro IPR001307 http://www.ebi.ac.uk/interpro/entry/IPR001307 InterPro IPR001763 http://www.ebi.ac.uk/interpro/entry/IPR001763 Jabion 4357 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4357 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:4357 http://www.genome.jp/dbget-bin/www_bget?hsa:4357 KEGG_Orthology KO:K01011 http://www.genome.jp/dbget-bin/www_bget?KO:K01011 KEGG_Pathway ko00270 http://www.genome.jp/kegg-bin/show_pathway?ko00270 KEGG_Pathway ko04122 http://www.genome.jp/kegg-bin/show_pathway?ko04122 KEGG_Reaction rn:R01931 http://www.genome.jp/dbget-bin/www_bget?rn:R01931 KEGG_Reaction rn:R03105 http://www.genome.jp/dbget-bin/www_bget?rn:R03105 KEGG_Reaction rn:R03106 http://www.genome.jp/dbget-bin/www_bget?rn:R03106 MIM 249650 http://www.ncbi.nlm.nih.gov/omim/249650 MIM 602496 http://www.ncbi.nlm.nih.gov/omim/602496 OMA SWGEWGS http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SWGEWGS OrthoDB EOG091G0X2Q http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0X2Q PDB 3OLH http://www.ebi.ac.uk/pdbe-srv/view/entry/3OLH PDB 4JGT http://www.ebi.ac.uk/pdbe-srv/view/entry/4JGT PDBsum 3OLH http://www.ebi.ac.uk/pdbsum/3OLH PDBsum 4JGT http://www.ebi.ac.uk/pdbsum/4JGT PROSITE PS00380 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00380 PROSITE PS00683 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00683 PROSITE PS50206 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50206 PSORT swissprot:THTM_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:THTM_HUMAN PSORT-B swissprot:THTM_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:THTM_HUMAN PSORT2 swissprot:THTM_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:THTM_HUMAN Pfam PF00581 http://pfam.xfam.org/family/PF00581 PharmGKB PA30928 http://www.pharmgkb.org/do/serve?objId=PA30928&objCls=Gene Phobius swissprot:THTM_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:THTM_HUMAN PhylomeDB P25325 http://phylomedb.org/?seqid=P25325 ProteinModelPortal P25325 http://www.proteinmodelportal.org/query/uniprot/P25325 PubMed 10591208 http://www.ncbi.nlm.nih.gov/pubmed/10591208 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 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 1953758 http://www.ncbi.nlm.nih.gov/pubmed/1953758 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 PubMed 4690911 http://www.ncbi.nlm.nih.gov/pubmed/4690911 PubMed 4973015 http://www.ncbi.nlm.nih.gov/pubmed/4973015 PubMed 6945862 http://www.ncbi.nlm.nih.gov/pubmed/6945862 RefSeq NP_001013454 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001013454 RefSeq NP_001123989 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123989 RefSeq NP_066949 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_066949 RefSeq XP_005261667 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005261667 SMART SM00450 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00450 SMR P25325 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P25325 STRING 9606.ENSP00000380318 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000380318&targetmode=cogs STRING COG2897 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG2897&targetmode=cogs SUPFAM SSF52821 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52821 UCSC uc003aql http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003aql&org=rat UniGene Hs.248267 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.248267 UniProtKB THTM_HUMAN http://www.uniprot.org/uniprot/THTM_HUMAN UniProtKB-AC P25325 http://www.uniprot.org/uniprot/P25325 charge swissprot:THTM_HUMAN http://rest.g-language.org/emboss/charge/swissprot:THTM_HUMAN eggNOG COG2897 http://eggnogapi.embl.de/nog_data/html/tree/COG2897 eggNOG KOG1529 http://eggnogapi.embl.de/nog_data/html/tree/KOG1529 epestfind swissprot:THTM_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:THTM_HUMAN garnier swissprot:THTM_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:THTM_HUMAN helixturnhelix swissprot:THTM_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:THTM_HUMAN hmoment swissprot:THTM_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:THTM_HUMAN iep swissprot:THTM_HUMAN http://rest.g-language.org/emboss/iep/swissprot:THTM_HUMAN inforesidue swissprot:THTM_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:THTM_HUMAN neXtProt NX_P25325 http://www.nextprot.org/db/entry/NX_P25325 octanol swissprot:THTM_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:THTM_HUMAN pepcoil swissprot:THTM_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:THTM_HUMAN pepdigest swissprot:THTM_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:THTM_HUMAN pepinfo swissprot:THTM_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:THTM_HUMAN pepnet swissprot:THTM_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:THTM_HUMAN pepstats swissprot:THTM_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:THTM_HUMAN pepwheel swissprot:THTM_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:THTM_HUMAN pepwindow swissprot:THTM_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:THTM_HUMAN sigcleave swissprot:THTM_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:THTM_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TULP1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00294-1; Sequence=Displayed; Name=2; IsoId=O00294-2; Sequence=VSP_023031; # AltName TULP1_HUMAN Tubby-like protein 1 # CCDS CCDS4807 -. [O00294-1] # CCDS CCDS75436 -. [O00294-2] # DISEASE TULP1_HUMAN Leber congenital amaurosis 15 (LCA15) [MIM 613843] 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 15024725, ECO 0000269|PubMed 17962469}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TULP1_HUMAN Retinitis pigmentosa 14 (RP14) [MIM 600132] 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 15557452, ECO 0000269|PubMed 17620573, ECO 0000269|PubMed 9462750, ECO 0000269|PubMed 9660588}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000229771 ENSP00000229771; ENSG00000112041. [O00294-1] # Ensembl ENST00000322263 ENSP00000319414; ENSG00000112041. [O00294-2] # ExpressionAtlas O00294 baseline and differential # FUNCTION TULP1_HUMAN Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long- term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4- phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. {ECO 0000250, ECO 0000269|PubMed 16303976, ECO 0000269|PubMed 19837063}. # GO_component GO:0001750 photoreceptor outer segment; ISS:UniProtKB. # GO_component GO:0001917 photoreceptor inner segment; ISS:UniProtKB. # GO_component GO:0005576 extracellular region; IEA:UniProtKB-SubCell. # GO_component GO:0005829 cytosol; IEA:Ensembl. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005929 cilium; IBA:GO_Central. # GO_component GO:0030054 cell junction; IEA:UniProtKB-KW. # GO_component GO:0042995 cell projection; IDA:UniProtKB. # GO_component GO:0043679 axon terminus; IEA:Ensembl. # GO_component GO:0045202 synapse; ISS:UniProtKB. # GO_function GO:0005546 phosphatidylinositol-4,5-bisphosphate binding; IDA:UniProtKB. # GO_function GO:0051015 actin filament binding; IDA:UniProtKB. # GO_process GO:0001895 retina homeostasis; IMP:UniProtKB. # GO_process GO:0006910 phagocytosis, recognition; IEA:Ensembl. # GO_process GO:0007601 visual perception; TAS:ProtInc. # GO_process GO:0016358 dendrite development; ISS:UniProtKB. # GO_process GO:0042462 eye photoreceptor cell development; ISS:UniProtKB. # GO_process GO:0045494 photoreceptor cell maintenance; ISS:UniProtKB. # GO_process GO:0050766 positive regulation of phagocytosis; IDA:UniProtKB. # GO_process GO:0050908 detection of light stimulus involved in visual perception; IMP:UniProtKB. # GO_process GO:0060041 retina development in camera-type eye; IEA:Ensembl. # GO_process GO:0097500 receptor localization to non-motile cilium; IBA:GO_Central. # GO_process GO:1903546 protein localization to photoreceptor outer segment; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0005929 cilium # GOslim_function GO:0008092 cytoskeletal protein binding # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0043167 ion binding # 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:0061024 membrane organization # Gene3D 3.20.90.10 -; 1. # Genevisible O00294 HS # HGNC HGNC:12423 TULP1 # INTERACTION TULP1_HUMAN P16333 NCK1; NbExp=2; IntAct=EBI-1756778, EBI-389883; # IntAct O00294 5 # InterPro IPR000007 Tubby_C # InterPro IPR018066 Tubby_C_CS # InterPro IPR025659 Tubby_C-like # InterPro IPR033018 TULP1 # KEGG_Disease H00527 [Inherited metabolic disease; Nervous system disease; Eye disease] Retinitis pigmentosa (RP) # KEGG_Disease H00837 [Nervous system disease; Eye disease] Leber congenital amaurosis (LCR) # MIM 600132 phenotype # MIM 602280 gene # MIM 613843 phenotype # Organism TULP1_HUMAN Homo sapiens (Human) # Orphanet 65 Leber congenital amaurosis # Orphanet 791 Retinitis pigmentosa # PANTHER PTHR16517:SF12 PTHR16517:SF12 # PDB 2FIM X-ray; 1.90 A; A/B=290-542 # PDB 3C5N X-ray; 1.80 A; A/B=291-536 # PRINTS PR01573 SUPERTUBBY # PROSITE PS01200 TUB_1 # PROSITE PS01201 TUB_2 # Pfam PF01167 Tub # Proteomes UP000005640 Chromosome 6 # RecName TULP1_HUMAN Tubby-related protein 1 # RefSeq NP_001276324 NM_001289395.1. [O00294-2] # RefSeq NP_003313 NM_003322.4. [O00294-1] # SEQUENCE CAUTION Sequence=CAI20251.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the TUB family. {ECO 0000305}. # SUBCELLULAR LOCATION TULP1_HUMAN Cytoplasm {ECO 0000269|PubMed 16303976}. Cell membrane {ECO 0000269|PubMed 16303976}; Peripheral membrane protein {ECO 0000269|PubMed 16303976}; Cytoplasmic side {ECO 0000269|PubMed 16303976}. Secreted {ECO 0000250}. Cell junction, synapse {ECO 0000250}. Note=Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal peptide and is secreted by an alternative pathway (By similarity). {ECO 0000250}. # SUBUNIT Homodimer (Probable). May interact with ABCF1, PSIP1, ZEB1 and HMGB2 (Potential). Interacts with DNM1 (By similarity). Interacts with F-actin. Interacts with TUB (By similarity). Interacts with TYRO3 (By similarity). {ECO:0000250, ECO 0000305}. # SUPFAM SSF54518 SSF54518 # TISSUE SPECIFICITY TULP1_HUMAN Retina-specific. # UCSC uc003okv human. [O00294-1] # WEB RESOURCE TULP1_HUMAN Name=Mutations of the TULP1 gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/files/sci-news/tulpmut.htm"; # eggNOG ENOG410XQFT LUCA # eggNOG KOG2502 Eukaryota BLAST swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TULP1_HUMAN BioCyc ZFISH:ENSG00000112041-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000112041-MONOMER COXPRESdb 7287 http://coxpresdb.jp/data/gene/7287.shtml CleanEx HS_TULP1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TULP1 DOI 10.1001/archopht.125.7.932 http://dx.doi.org/10.1001/archopht.125.7.932 DOI 10.1002/humu.20010 http://dx.doi.org/10.1002/humu.20010 DOI 10.1016/S0140-6736(05)79384-3 http://dx.doi.org/10.1016/S0140-6736(05)79384-3 DOI 10.1016/j.yexcr.2009.10.008 http://dx.doi.org/10.1016/j.yexcr.2009.10.008 DOI 10.1038/nature02055 http://dx.doi.org/10.1038/nature02055 DOI 10.1038/ng0298-174 http://dx.doi.org/10.1038/ng0298-174 DOI 10.1038/ng0298-177 http://dx.doi.org/10.1038/ng0298-177 DOI 10.1073/pnas.94.7.3128 http://dx.doi.org/10.1073/pnas.94.7.3128 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1167/iovs.04-0544 http://dx.doi.org/10.1167/iovs.04-0544 DOI 10.1167/iovs.05-0693 http://dx.doi.org/10.1167/iovs.05-0693 DOI 10.1167/iovs.06-1013 http://dx.doi.org/10.1167/iovs.06-1013 EMBL AF034919 http://www.ebi.ac.uk/ena/data/view/AF034919 EMBL AF034920 http://www.ebi.ac.uk/ena/data/view/AF034920 EMBL AF034921 http://www.ebi.ac.uk/ena/data/view/AF034921 EMBL AF034922 http://www.ebi.ac.uk/ena/data/view/AF034922 EMBL AF034923 http://www.ebi.ac.uk/ena/data/view/AF034923 EMBL AL033519 http://www.ebi.ac.uk/ena/data/view/AL033519 EMBL BC032714 http://www.ebi.ac.uk/ena/data/view/BC032714 EMBL BC065261 http://www.ebi.ac.uk/ena/data/view/BC065261 EMBL U82468 http://www.ebi.ac.uk/ena/data/view/U82468 Ensembl ENST00000229771 http://www.ensembl.org/id/ENST00000229771 Ensembl ENST00000322263 http://www.ensembl.org/id/ENST00000322263 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:0001917 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001917 GO_component GO:0005576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576 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:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GO_component GO:0030054 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054 GO_component GO:0042995 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042995 GO_component GO:0043679 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679 GO_component GO:0045202 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202 GO_function GO:0005546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005546 GO_function GO:0051015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051015 GO_process GO:0001895 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001895 GO_process GO:0006910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006910 GO_process GO:0007601 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601 GO_process GO:0016358 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016358 GO_process GO:0042462 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042462 GO_process GO:0045494 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045494 GO_process GO:0050766 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050766 GO_process GO:0050908 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050908 GO_process GO:0060041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060041 GO_process GO:0097500 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097500 GO_process GO:1903546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903546 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: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:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GOslim_function GO:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 GOslim_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 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: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 3.20.90.10 http://www.cathdb.info/version/latest/superfamily/3.20.90.10 GeneCards TULP1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TULP1 GeneID 7287 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7287 GeneTree ENSGT00610000085970 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00610000085970 H-InvDB HIX0005807 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005807 HGNC HGNC:12423 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12423 HOGENOM HOG000016044 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000016044&db=HOGENOM6 HOVERGEN HBG018010 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018010&db=HOVERGEN HPA CAB070416 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB070416 InParanoid O00294 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00294 IntAct O00294 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00294* InterPro IPR000007 http://www.ebi.ac.uk/interpro/entry/IPR000007 InterPro IPR018066 http://www.ebi.ac.uk/interpro/entry/IPR018066 InterPro IPR025659 http://www.ebi.ac.uk/interpro/entry/IPR025659 InterPro IPR033018 http://www.ebi.ac.uk/interpro/entry/IPR033018 Jabion 7287 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7287 KEGG_Disease H00527 http://www.genome.jp/dbget-bin/www_bget?H00527 KEGG_Disease H00837 http://www.genome.jp/dbget-bin/www_bget?H00837 KEGG_Gene hsa:7287 http://www.genome.jp/dbget-bin/www_bget?hsa:7287 MIM 600132 http://www.ncbi.nlm.nih.gov/omim/600132 MIM 602280 http://www.ncbi.nlm.nih.gov/omim/602280 MIM 613843 http://www.ncbi.nlm.nih.gov/omim/613843 OMA EAPESPC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EAPESPC Orphanet 65 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=65 Orphanet 791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=791 OrthoDB EOG091G04TF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04TF PANTHER PTHR16517:SF12 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16517:SF12 PDB 2FIM http://www.ebi.ac.uk/pdbe-srv/view/entry/2FIM PDB 3C5N http://www.ebi.ac.uk/pdbe-srv/view/entry/3C5N PDBsum 2FIM http://www.ebi.ac.uk/pdbsum/2FIM PDBsum 3C5N http://www.ebi.ac.uk/pdbsum/3C5N PRINTS PR01573 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01573 PROSITE PS01200 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01200 PROSITE PS01201 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01201 PSORT swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TULP1_HUMAN PSORT-B swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TULP1_HUMAN PSORT2 swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TULP1_HUMAN Pfam PF01167 http://pfam.xfam.org/family/PF01167 PharmGKB PA37085 http://www.pharmgkb.org/do/serve?objId=PA37085&objCls=Gene Phobius swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TULP1_HUMAN PhylomeDB O00294 http://phylomedb.org/?seqid=O00294 ProteinModelPortal O00294 http://www.proteinmodelportal.org/query/uniprot/O00294 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 15024725 http://www.ncbi.nlm.nih.gov/pubmed/15024725 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15557452 http://www.ncbi.nlm.nih.gov/pubmed/15557452 PubMed 16303976 http://www.ncbi.nlm.nih.gov/pubmed/16303976 PubMed 17620573 http://www.ncbi.nlm.nih.gov/pubmed/17620573 PubMed 17962469 http://www.ncbi.nlm.nih.gov/pubmed/17962469 PubMed 19837063 http://www.ncbi.nlm.nih.gov/pubmed/19837063 PubMed 9096357 http://www.ncbi.nlm.nih.gov/pubmed/9096357 PubMed 9462750 http://www.ncbi.nlm.nih.gov/pubmed/9462750 PubMed 9462751 http://www.ncbi.nlm.nih.gov/pubmed/9462751 PubMed 9660588 http://www.ncbi.nlm.nih.gov/pubmed/9660588 RefSeq NP_001276324 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001276324 RefSeq NP_003313 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003313 SMR O00294 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00294 STRING 9606.ENSP00000229771 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000229771&targetmode=cogs SUPFAM SSF54518 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54518 UCSC uc003okv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003okv&org=rat UniGene Hs.485208 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.485208 UniProtKB TULP1_HUMAN http://www.uniprot.org/uniprot/TULP1_HUMAN UniProtKB-AC O00294 http://www.uniprot.org/uniprot/O00294 charge swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TULP1_HUMAN eggNOG ENOG410XQFT http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQFT eggNOG KOG2502 http://eggnogapi.embl.de/nog_data/html/tree/KOG2502 epestfind swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TULP1_HUMAN garnier swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TULP1_HUMAN helixturnhelix swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TULP1_HUMAN hmoment swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TULP1_HUMAN iep swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TULP1_HUMAN inforesidue swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TULP1_HUMAN neXtProt NX_O00294 http://www.nextprot.org/db/entry/NX_O00294 octanol swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TULP1_HUMAN pepcoil swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TULP1_HUMAN pepdigest swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TULP1_HUMAN pepinfo swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TULP1_HUMAN pepnet swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TULP1_HUMAN pepstats swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TULP1_HUMAN pepwheel swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TULP1_HUMAN pepwindow swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TULP1_HUMAN sigcleave swissprot:TULP1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TULP1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GANAB_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q14697-1; Sequence=Displayed; Name=2; IsoId=Q14697-2; Sequence=VSP_010674; Name=3; IsoId=Q14697-3; Sequence=VSP_039976, VSP_039977; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; # AltName GANAB_HUMAN Alpha-glucosidase 2 # AltName GANAB_HUMAN Glucosidase II subunit alpha # BRENDA 3.2.1.84 2681 # BioGrid 116802 97 # CATALYTIC ACTIVITY GANAB_HUMAN Hydrolysis of terminal (1->3)-alpha-D- glucosidic links in (1->3)-alpha-D-glucans. # CAZy GH31 Glycoside Hydrolase Family 31 # CCDS CCDS41656 -. [Q14697-2] # CCDS CCDS8026 -. [Q14697-1] # ChiTaRS GANAB human # DrugBank DB00491 Miglitol # Ensembl ENST00000346178 ENSP00000340466; ENSG00000089597. [Q14697-2] # Ensembl ENST00000356638 ENSP00000349053; ENSG00000089597. [Q14697-1] # Ensembl ENST00000526210 ENSP00000433799; ENSG00000089597. [Q14697-3] # Ensembl ENST00000532402 ENSP00000432181; ENSG00000089597. [Q14697-3] # Ensembl ENST00000534613 ENSP00000434921; ENSG00000089597. [Q14697-3] # ExpressionAtlas Q14697 baseline and differential # FUNCTION GANAB_HUMAN Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. {ECO 0000269|PubMed 10929008}. # GO_component GO:0005788 endoplasmic reticulum lumen; TAS:Reactome. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0017177 glucosidase II complex; IEA:Ensembl. # GO_component GO:0031012 extracellular matrix; IDA:BHF-UCL. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0030246 carbohydrate binding; IEA:InterPro. # GO_function GO:0033919 glucan 1,3-alpha-glucosidase activity; IEA:UniProtKB-EC. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0005975 carbohydrate metabolic process; IEA:InterPro. # GO_process GO:0006457 protein folding; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # 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:0003723 RNA binding # GOslim_function GO:0016798 hydrolase activity, acting on glycosyl bonds # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0006457 protein folding # Genevisible Q14697 HS # HGNC HGNC:4138 GANAB # IntAct Q14697 30 # InterPro IPR000322 Glyco_hydro_31 # InterPro IPR011013 Gal_mutarotase_SF_dom # InterPro IPR017853 Glycoside_hydrolase_SF # InterPro IPR025887 Glyco_hydro_31_N_dom # InterPro IPR030458 Glyco_hydro_31_AS # InterPro IPR030459 Glyco_hydro_31_CS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00510 N-Glycan biosynthesis # KEGG_Pathway ko04141 Protein processing in endoplasmic reticulum # MIM 104160 gene # Organism GANAB_HUMAN Homo sapiens (Human) # PATHWAY GANAB_HUMAN Glycan metabolism; N-glycan metabolism. # PROSITE PS00129 GLYCOSYL_HYDROL_F31_1 # PROSITE PS00707 GLYCOSYL_HYDROL_F31_2 # Pfam PF01055 Glyco_hydro_31 # Pfam PF13802 Gal_mutarotas_2 # Proteomes UP000005640 Chromosome 11 # Reactome R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle # Reactome R-HSA-901042 Calnexin/calreticulin cycle # RecName GANAB_HUMAN Neutral alpha-glucosidase AB # RefSeq NP_001265121 NM_001278192.1 # RefSeq NP_001265122 NM_001278193.1 # RefSeq NP_001265123 NM_001278194.1 # RefSeq NP_938148 NM_198334.2. [Q14697-1] # RefSeq NP_938149 NM_198335.3. [Q14697-2] # SEQUENCE CAUTION Sequence=AAH65266.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the glycosyl hydrolase 31 family. {ECO 0000305}. # SUBCELLULAR LOCATION GANAB_HUMAN Endoplasmic reticulum {ECO 0000250}. Golgi apparatus {ECO 0000250}. Melanosome {ECO 0000269|PubMed 10929008, ECO 0000269|PubMed 17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. # SUBUNIT Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC (By similarity). {ECO 0000250}. # SUPFAM SSF51445 SSF51445 # SUPFAM SSF74650 SSF74650; 2 # TISSUE SPECIFICITY Detected in placenta. {ECO:0000269|PubMed 3881423}. # TopDownProteomics Q14697-1 -. [Q14697-1] # UCSC uc001nua human. [Q14697-1] # eggNOG COG1501 LUCA # eggNOG KOG1066 Eukaryota BLAST swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GANAB_HUMAN BioCyc ZFISH:HS01658-MONOMER http://biocyc.org/getid?id=ZFISH:HS01658-MONOMER COXPRESdb 23193 http://coxpresdb.jp/data/gene/23193.shtml CleanEx HS_GANAB http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GANAB 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/pr060363j http://dx.doi.org/10.1021/pr060363j DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1038/nature04632 http://dx.doi.org/10.1038/nature04632 DOI 10.1074/jbc.271.44.27509 http://dx.doi.org/10.1074/jbc.271.44.27509 DOI 10.1093/dnares/2.1.37 http://dx.doi.org/10.1093/dnares/2.1.37 DOI 10.1093/glycob/10.8.815 http://dx.doi.org/10.1093/glycob/10.8.815 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 DB00491 http://www.drugbank.ca/drugs/DB00491 EC_number EC:3.2.1.84 http://www.genome.jp/dbget-bin/www_bget?EC:3.2.1.84 EMBL AF144074 http://www.ebi.ac.uk/ena/data/view/AF144074 EMBL AJ000332 http://www.ebi.ac.uk/ena/data/view/AJ000332 EMBL AP001458 http://www.ebi.ac.uk/ena/data/view/AP001458 EMBL BC017433 http://www.ebi.ac.uk/ena/data/view/BC017433 EMBL BC017435 http://www.ebi.ac.uk/ena/data/view/BC017435 EMBL BC065266 http://www.ebi.ac.uk/ena/data/view/BC065266 EMBL D42041 http://www.ebi.ac.uk/ena/data/view/D42041 ENZYME 3.2.1.84 http://enzyme.expasy.org/EC/3.2.1.84 Ensembl ENST00000346178 http://www.ensembl.org/id/ENST00000346178 Ensembl ENST00000356638 http://www.ensembl.org/id/ENST00000356638 Ensembl ENST00000526210 http://www.ensembl.org/id/ENST00000526210 Ensembl ENST00000532402 http://www.ensembl.org/id/ENST00000532402 Ensembl ENST00000534613 http://www.ensembl.org/id/ENST00000534613 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005788 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005788 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:0017177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017177 GO_component GO:0031012 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012 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:0030246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030246 GO_function GO:0033919 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033919 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GO_process GO:0006457 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006457 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: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:0016798 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016798 GOslim_process GO:0005975 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005975 GOslim_process GO:0006457 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006457 GeneCards GANAB http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GANAB GeneID 23193 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23193 GeneTree ENSGT00760000119229 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119229 HGNC HGNC:4138 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4138 HOVERGEN HBG051683 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051683&db=HOVERGEN HPA HPA026874 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA026874 HPA HPA061426 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA061426 InParanoid Q14697 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14697 IntAct Q14697 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14697* IntEnz 3.2.1.84 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.2.1.84 InterPro IPR000322 http://www.ebi.ac.uk/interpro/entry/IPR000322 InterPro IPR011013 http://www.ebi.ac.uk/interpro/entry/IPR011013 InterPro IPR017853 http://www.ebi.ac.uk/interpro/entry/IPR017853 InterPro IPR025887 http://www.ebi.ac.uk/interpro/entry/IPR025887 InterPro IPR030458 http://www.ebi.ac.uk/interpro/entry/IPR030458 InterPro IPR030459 http://www.ebi.ac.uk/interpro/entry/IPR030459 Jabion 23193 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23193 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:23193 http://www.genome.jp/dbget-bin/www_bget?hsa:23193 KEGG_Orthology KO:K05546 http://www.genome.jp/dbget-bin/www_bget?KO:K05546 KEGG_Pathway ko00510 http://www.genome.jp/kegg-bin/show_pathway?ko00510 KEGG_Pathway ko04141 http://www.genome.jp/kegg-bin/show_pathway?ko04141 KEGG_Reaction rn:R05980 http://www.genome.jp/dbget-bin/www_bget?rn:R05980 KEGG_Reaction rn:R05981 http://www.genome.jp/dbget-bin/www_bget?rn:R05981 MIM 104160 http://www.ncbi.nlm.nih.gov/omim/104160 MINT MINT-5001279 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5001279 OMA VNYEFAN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VNYEFAN OrthoDB EOG091G01CC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01CC PROSITE PS00129 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00129 PROSITE PS00707 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00707 PSORT swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GANAB_HUMAN PSORT-B swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GANAB_HUMAN PSORT2 swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GANAB_HUMAN Pfam PF01055 http://pfam.xfam.org/family/PF01055 Pfam PF13802 http://pfam.xfam.org/family/PF13802 PharmGKB PA28551 http://www.pharmgkb.org/do/serve?objId=PA28551&objCls=Gene Phobius swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GANAB_HUMAN PhylomeDB Q14697 http://phylomedb.org/?seqid=Q14697 ProteinModelPortal Q14697 http://www.proteinmodelportal.org/query/uniprot/Q14697 PubMed 10929008 http://www.ncbi.nlm.nih.gov/pubmed/10929008 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 17081065 http://www.ncbi.nlm.nih.gov/pubmed/17081065 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 3881423 http://www.ncbi.nlm.nih.gov/pubmed/3881423 PubMed 7788527 http://www.ncbi.nlm.nih.gov/pubmed/7788527 PubMed 8910335 http://www.ncbi.nlm.nih.gov/pubmed/8910335 Reactome R-HSA-532668 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-532668 Reactome R-HSA-901042 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-901042 RefSeq NP_001265121 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265121 RefSeq NP_001265122 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265122 RefSeq NP_001265123 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001265123 RefSeq NP_938148 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938148 RefSeq NP_938149 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_938149 SMR Q14697 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14697 STRING 9606.ENSP00000340466 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000340466&targetmode=cogs SUPFAM SSF51445 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51445 SUPFAM SSF74650 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF74650 UCSC uc001nua http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001nua&org=rat UniGene Hs.595071 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.595071 UniProtKB GANAB_HUMAN http://www.uniprot.org/uniprot/GANAB_HUMAN UniProtKB-AC Q14697 http://www.uniprot.org/uniprot/Q14697 charge swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GANAB_HUMAN eggNOG COG1501 http://eggnogapi.embl.de/nog_data/html/tree/COG1501 eggNOG KOG1066 http://eggnogapi.embl.de/nog_data/html/tree/KOG1066 epestfind swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GANAB_HUMAN garnier swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GANAB_HUMAN helixturnhelix swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GANAB_HUMAN hmoment swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GANAB_HUMAN iep swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GANAB_HUMAN inforesidue swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GANAB_HUMAN neXtProt NX_Q14697 http://www.nextprot.org/db/entry/NX_Q14697 octanol swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GANAB_HUMAN pepcoil swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GANAB_HUMAN pepdigest swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GANAB_HUMAN pepinfo swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GANAB_HUMAN pepnet swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GANAB_HUMAN pepstats swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GANAB_HUMAN pepwheel swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GANAB_HUMAN pepwindow swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GANAB_HUMAN sigcleave swissprot:GANAB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GANAB_HUMAN ## Database ID URL or Descriptions # AltName PKR2_HUMAN G-protein coupled receptor 73-like 1 # AltName PKR2_HUMAN G-protein coupled receptor I5E # AltName PKR2_HUMAN GPR73b # AltName PKR2_HUMAN GPRg2 # DISEASE PKR2_HUMAN Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM 244200] A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO 0000269|PubMed 17054399, ECO 0000269|PubMed 18559922, ECO 0000269|PubMed 18826963, ECO 0000269|PubMed 22927827, ECO 0000269|PubMed 23643382, ECO 0000269|PubMed 25077900}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in PROKR2 as well as in other HH- associated genes including KAL1, SEMA3A, PROK2, GNRH1 and FGFR1 (PubMed 17054399, PubMed 22927827, PubMed 23643382). {ECO 0000269|PubMed 17054399, ECO 0000269|PubMed 22927827, ECO 0000269|PubMed 23643382}. # Ensembl ENST00000217270 ENSP00000217270; ENSG00000101292 # FUNCTION PKR2_HUMAN Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0005887 integral component of plasma membrane; IBA:GO_Central. # GO_function GO:0004930 G-protein coupled receptor activity; IBA:GO_Central. # GO_function GO:0004983 neuropeptide Y receptor activity; IEA:InterPro. # GO_process GO:0007166 cell surface receptor signaling pathway; IBA:GO_Central. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; IBA:GO_Central. # GO_process GO:0007623 circadian rhythm; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Genevisible Q8NFJ6 HS # HGNC HGNC:15836 PROKR2 # InterPro IPR000276 GPCR_Rhodpsn # InterPro IPR000611 NPY_rcpt # InterPro IPR017452 GPCR_Rhodpsn_7TM # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Disease H00255 [Endocrine disease] Fertile eunuch syndrome (FEUNS) # MIM 244200 phenotype # MIM 607123 gene # Organism PKR2_HUMAN Homo sapiens (Human) # Orphanet 3157 Septo-optic dysplasia # Orphanet 432 Normosmic congenital hypogonadotropic hypogonadism # Orphanet 478 Kallmann syndrome # PRINTS PR00237 GPCRRHODOPSN # PRINTS PR01012 NRPEPTIDEYR # PROSITE PS00237 G_PROTEIN_RECEP_F1_1 # PROSITE PS50262 G_PROTEIN_RECEP_F1_2 # Pfam PF00001 7tm_1 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-375276 Peptide ligand-binding receptors # Reactome R-HSA-416476 G alpha (q) signalling events # RecName PKR2_HUMAN Prokineticin receptor 2 # RefSeq NP_658986 NM_144773.3 # RefSeq XP_016883135 XM_017027646.1 # SIMILARITY Belongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule PRU00521}. # SUBCELLULAR LOCATION PKR2_HUMAN Cell membrane {ECO 0000269|PubMed 18826963}; Multi-pass membrane protein. # SUBUNIT Homodimer. {ECO:0000269|PubMed 21161321}. # TISSUE SPECIFICITY PKR2_HUMAN Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain. # UCSC uc010zqw human # eggNOG ENOG410XRW9 LUCA # eggNOG KOG3656 Eukaryota BLAST swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PKR2_HUMAN BioCyc ZFISH:ENSG00000101292-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000101292-MONOMER COXPRESdb 128674 http://coxpresdb.jp/data/gene/128674.shtml CleanEx HS_PROKR2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PROKR2 DOI 10.1007/s00018-010-0601-6 http://dx.doi.org/10.1007/s00018-010-0601-6 DOI 10.1016/S0167-4781(02)00546-8 http://dx.doi.org/10.1016/S0167-4781(02)00546-8 DOI 10.1016/j.ajhg.2013.04.008 http://dx.doi.org/10.1016/j.ajhg.2013.04.008 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1074/jbc.M202139200 http://dx.doi.org/10.1074/jbc.M202139200 DOI 10.1093/hmg/ddn318 http://dx.doi.org/10.1093/hmg/ddn318 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1210/jc.2007-2654 http://dx.doi.org/10.1210/jc.2007-2654 DOI 10.1210/jc.2014-2110 http://dx.doi.org/10.1210/jc.2014-2110 DOI 10.1371/journal.pgen.0020175 http://dx.doi.org/10.1371/journal.pgen.0020175 DOI 10.1371/journal.pgen.1002896 http://dx.doi.org/10.1371/journal.pgen.1002896 EMBL AB084081 http://www.ebi.ac.uk/ena/data/view/AB084081 EMBL AF506288 http://www.ebi.ac.uk/ena/data/view/AF506288 EMBL AL121755 http://www.ebi.ac.uk/ena/data/view/AL121755 EMBL BC104959 http://www.ebi.ac.uk/ena/data/view/BC104959 EMBL BC104961 http://www.ebi.ac.uk/ena/data/view/BC104961 EMBL EF577398 http://www.ebi.ac.uk/ena/data/view/EF577398 Ensembl ENST00000217270 http://www.ensembl.org/id/ENST00000217270 G-Links 9606 http://link.g-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:0004930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004930 GO_function GO:0004983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004983 GO_process GO:0007166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 GO_process GO:0007623 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007623 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/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_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 PROKR2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PROKR2 GeneID 128674 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=128674 GeneTree ENSGT00820000127076 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00820000127076 HGNC HGNC:15836 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15836 HOGENOM HOG000231664 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231664&db=HOGENOM6 HOVERGEN HBG039631 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG039631&db=HOVERGEN HPA HPA047281 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047281 InParanoid Q8NFJ6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NFJ6 InterPro IPR000276 http://www.ebi.ac.uk/interpro/entry/IPR000276 InterPro IPR000611 http://www.ebi.ac.uk/interpro/entry/IPR000611 InterPro IPR017452 http://www.ebi.ac.uk/interpro/entry/IPR017452 Jabion 128674 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=128674 KEGG_Brite ko04030 http://www.genome.jp/dbget-bin/www_bget?ko04030 KEGG_Disease H00255 http://www.genome.jp/dbget-bin/www_bget?H00255 KEGG_Gene hsa:128674 http://www.genome.jp/dbget-bin/www_bget?hsa:128674 KEGG_Orthology KO:K08380 http://www.genome.jp/dbget-bin/www_bget?KO:K08380 MIM 244200 http://www.ncbi.nlm.nih.gov/omim/244200 MIM 607123 http://www.ncbi.nlm.nih.gov/omim/607123 OMA DYDLPMD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DYDLPMD Orphanet 3157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3157 Orphanet 432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=432 Orphanet 478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=478 OrthoDB EOG091G086Y http://cegg.unige.ch/orthodb/results?searchtext=EOG091G086Y 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 PR01012 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01012 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:PKR2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PKR2_HUMAN PSORT-B swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PKR2_HUMAN PSORT2 swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PKR2_HUMAN Pfam PF00001 http://pfam.xfam.org/family/PF00001 PharmGKB PA30014 http://www.pharmgkb.org/do/serve?objId=PA30014&objCls=Gene Phobius swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PKR2_HUMAN PhylomeDB Q8NFJ6 http://phylomedb.org/?seqid=Q8NFJ6 ProteinModelPortal Q8NFJ6 http://www.proteinmodelportal.org/query/uniprot/Q8NFJ6 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 11886876 http://www.ncbi.nlm.nih.gov/pubmed/11886876 PubMed 12427552 http://www.ncbi.nlm.nih.gov/pubmed/12427552 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17054399 http://www.ncbi.nlm.nih.gov/pubmed/17054399 PubMed 18559922 http://www.ncbi.nlm.nih.gov/pubmed/18559922 PubMed 18826963 http://www.ncbi.nlm.nih.gov/pubmed/18826963 PubMed 21161321 http://www.ncbi.nlm.nih.gov/pubmed/21161321 PubMed 22927827 http://www.ncbi.nlm.nih.gov/pubmed/22927827 PubMed 23643382 http://www.ncbi.nlm.nih.gov/pubmed/23643382 PubMed 25077900 http://www.ncbi.nlm.nih.gov/pubmed/25077900 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 RefSeq NP_658986 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_658986 RefSeq XP_016883135 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883135 STRING 9606.ENSP00000217270 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000217270&targetmode=cogs UCSC uc010zqw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010zqw&org=rat UniGene Hs.375029 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.375029 UniProtKB PKR2_HUMAN http://www.uniprot.org/uniprot/PKR2_HUMAN UniProtKB-AC Q8NFJ6 http://www.uniprot.org/uniprot/Q8NFJ6 charge swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PKR2_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:PKR2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PKR2_HUMAN garnier swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PKR2_HUMAN helixturnhelix swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PKR2_HUMAN hmoment swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PKR2_HUMAN iep swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PKR2_HUMAN inforesidue swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PKR2_HUMAN neXtProt NX_Q8NFJ6 http://www.nextprot.org/db/entry/NX_Q8NFJ6 octanol swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PKR2_HUMAN pepcoil swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PKR2_HUMAN pepdigest swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PKR2_HUMAN pepinfo swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PKR2_HUMAN pepnet swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PKR2_HUMAN pepstats swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PKR2_HUMAN pepwheel swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PKR2_HUMAN pepwindow swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PKR2_HUMAN sigcleave swissprot:PKR2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PKR2_HUMAN ## Database ID URL or Descriptions # AltName NXT1_HUMAN Protein p15 # BioGrid 118875 12 # CDD cd00780 NTF2 # ChiTaRS NXT1 human # Ensembl ENST00000254998 ENSP00000254998; ENSG00000132661 # FUNCTION NXT1_HUMAN Stimulator of protein export for NES-containing proteins. Also plays a role in the nuclear export of U1 snRNA, tRNA, and mRNA. The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5. {ECO 0000269|PubMed 10567585, ECO 0000269|PubMed 10848583, ECO 0000269|PubMed 11259602, ECO 0000269|PubMed 19165146}. # 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:0016607 nuclear speck; IEA:UniProtKB-SubCell. # GO_process GO:0006405 RNA export from nucleus; TAS:Reactome. # GO_process GO:0006406 mRNA export from nucleus; TAS:Reactome. # GO_process GO:0006611 protein export from nucleus; 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_process GO:0006913 nucleocytoplasmic transport # Gene3D 3.10.450.50 -; 1. # Genevisible Q9UKK6 HS # HGNC HGNC:15913 NXT1 # INTERACTION NXT1_HUMAN Q9UBU9 NXF1; NbExp=5; IntAct=EBI-301889, EBI-398874; Q9H4D5 NXF3; NbExp=8; IntAct=EBI-301889, EBI-750038; Q6ZW49-2 PAXIP1; NbExp=3; IntAct=EBI-301889, EBI-10236271; Q9BP41 Ranbp21 (xeno); NbExp=2; IntAct=EBI-301889, EBI-301896; O95793 STAU1; NbExp=5; IntAct=EBI-301889, EBI-358174; # IntAct Q9UKK6 14 # InterPro IPR002075 NTF2 # InterPro IPR018222 Nuclear_transport_factor_2_euk # InterPro IPR032710 NTF2-like_dom # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko03009 Ribosome biogenesis # KEGG_Brite ko03041 M00430 Exon junction complex (EJC) # KEGG_Pathway ko03008 Ribosome biogenesis in eukaryotes # KEGG_Pathway ko03013 RNA transport # KEGG_Pathway ko03015 mRNA surveillance pathway # KEGG_Pathway ko05164 Influenza A # MIM 605811 gene # Organism NXT1_HUMAN Homo sapiens (Human) # PDB 1JKG X-ray; 1.90 A; A=1-140 # PDB 1JN5 X-ray; 2.80 A; A=1-140 # PDB 4WYK X-ray; 3.40 A; B/D=2-140 # PROSITE PS50177 NTF2_DOMAIN # Pfam PF02136 NTF2 # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript # RecName NXT1_HUMAN NTF2-related export protein 1 # RefSeq NP_037380 NM_013248.2 # RefSeq XP_011527532 XM_011529230.2 # SIMILARITY Contains 1 NTF2 domain. {ECO:0000255|PROSITE- ProRule PRU00137}. # SUBCELLULAR LOCATION NXT1_HUMAN Nucleus. Nucleus speckle {ECO 0000305}. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. # SUBUNIT Heterodimer with NXF1. Interacts (via NTF2 domain) with NXF1. Stabilizes the NTF2 domain of NXF1 by heterodimerization. The formation of NXF1-NXT1 heterodimers is required for the NXF1- mediated nuclear mRNA export. Preferentially binds Ran-GTP. Associates with NXF2, NXF3 and NXF5. Does not bind nucleoporins (NPC) directly, its association to NPC is mediated by NXF1. {ECO:0000269|PubMed 11583626}. # SUPFAM SSF54427 SSF54427 # UCSC uc002wsx human # eggNOG ENOG4111TWR LUCA # eggNOG KOG4353 Eukaryota BLAST swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NXT1_HUMAN BioCyc ZFISH:ENSG00000132661-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000132661-MONOMER COXPRESdb 29107 http://coxpresdb.jp/data/gene/29107.shtml CleanEx HS_NXT1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NXT1 DIP DIP-33075N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-33075N DOI 10.1016/S1097-2765(01)00348-3 http://dx.doi.org/10.1016/S1097-2765(01)00348-3 DOI 10.1038/414865a http://dx.doi.org/10.1038/414865a DOI 10.1038/emboj.2009.5 http://dx.doi.org/10.1038/emboj.2009.5 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 10.1128/MCB.19.12.8616 http://dx.doi.org/10.1128/MCB.19.12.8616 DOI 10.1128/MCB.20.13.4562-4571.2000 http://dx.doi.org/10.1128/MCB.20.13.4562-4571.2000 DOI 10.1128/MCB.21.7.2545-2554.2001 http://dx.doi.org/10.1128/MCB.21.7.2545-2554.2001 EMBL AF156957 http://www.ebi.ac.uk/ena/data/view/AF156957 EMBL AL096677 http://www.ebi.ac.uk/ena/data/view/AL096677 EMBL BC000759 http://www.ebi.ac.uk/ena/data/view/BC000759 EMBL BC002687 http://www.ebi.ac.uk/ena/data/view/BC002687 EMBL BC003029 http://www.ebi.ac.uk/ena/data/view/BC003029 EMBL BC003410 http://www.ebi.ac.uk/ena/data/view/BC003410 Ensembl ENST00000254998 http://www.ensembl.org/id/ENST00000254998 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:0016607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016607 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:0006611 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006611 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_process GO:0006913 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006913 Gene3D 3.10.450.50 http://www.cathdb.info/version/latest/superfamily/3.10.450.50 GeneCards NXT1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NXT1 GeneID 29107 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29107 GeneTree ENSGT00510000046494 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046494 HGNC HGNC:15913 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15913 HOGENOM HOG000231890 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231890&db=HOGENOM6 HOVERGEN HBG018207 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018207&db=HOVERGEN HPA HPA047471 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047471 InParanoid Q9UKK6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UKK6 IntAct Q9UKK6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UKK6* 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 29107 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29107 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 ko03041 http://www.genome.jp/dbget-bin/www_bget?ko03041 KEGG_Gene hsa:29107 http://www.genome.jp/dbget-bin/www_bget?hsa:29107 KEGG_Orthology KO:K14285 http://www.genome.jp/dbget-bin/www_bget?KO:K14285 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 ko03015 http://www.genome.jp/kegg-bin/show_pathway?ko03015 KEGG_Pathway ko05164 http://www.genome.jp/kegg-bin/show_pathway?ko05164 MIM 605811 http://www.ncbi.nlm.nih.gov/omim/605811 MINT MINT-216208 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-216208 OMA YYSTMDK http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YYSTMDK OrthoDB EOG091G0SMX http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0SMX PDB 1JKG http://www.ebi.ac.uk/pdbe-srv/view/entry/1JKG PDB 1JN5 http://www.ebi.ac.uk/pdbe-srv/view/entry/1JN5 PDB 4WYK http://www.ebi.ac.uk/pdbe-srv/view/entry/4WYK PDBsum 1JKG http://www.ebi.ac.uk/pdbsum/1JKG PDBsum 1JN5 http://www.ebi.ac.uk/pdbsum/1JN5 PDBsum 4WYK http://www.ebi.ac.uk/pdbsum/4WYK PROSITE PS50177 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50177 PSORT swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NXT1_HUMAN PSORT-B swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NXT1_HUMAN PSORT2 swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NXT1_HUMAN Pfam PF02136 http://pfam.xfam.org/family/PF02136 PharmGKB PA31867 http://www.pharmgkb.org/do/serve?objId=PA31867&objCls=Gene Phobius swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NXT1_HUMAN PhylomeDB Q9UKK6 http://phylomedb.org/?seqid=Q9UKK6 ProteinModelPortal Q9UKK6 http://www.proteinmodelportal.org/query/uniprot/Q9UKK6 PubMed 10567585 http://www.ncbi.nlm.nih.gov/pubmed/10567585 PubMed 10848583 http://www.ncbi.nlm.nih.gov/pubmed/10848583 PubMed 11259602 http://www.ncbi.nlm.nih.gov/pubmed/11259602 PubMed 11583626 http://www.ncbi.nlm.nih.gov/pubmed/11583626 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19165146 http://www.ncbi.nlm.nih.gov/pubmed/19165146 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 Reactome R-HSA-159236 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-159236 RefSeq NP_037380 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037380 RefSeq XP_011527532 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527532 SMR Q9UKK6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UKK6 STRING 9606.ENSP00000254998 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000254998&targetmode=cogs SUPFAM SSF54427 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54427 UCSC uc002wsx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002wsx&org=rat UniGene Hs.516933 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.516933 UniProtKB NXT1_HUMAN http://www.uniprot.org/uniprot/NXT1_HUMAN UniProtKB-AC Q9UKK6 http://www.uniprot.org/uniprot/Q9UKK6 charge swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NXT1_HUMAN eggNOG ENOG4111TWR http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111TWR eggNOG KOG4353 http://eggnogapi.embl.de/nog_data/html/tree/KOG4353 epestfind swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NXT1_HUMAN garnier swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NXT1_HUMAN helixturnhelix swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NXT1_HUMAN hmoment swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NXT1_HUMAN iep swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NXT1_HUMAN inforesidue swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NXT1_HUMAN neXtProt NX_Q9UKK6 http://www.nextprot.org/db/entry/NX_Q9UKK6 octanol swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NXT1_HUMAN pepcoil swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NXT1_HUMAN pepdigest swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NXT1_HUMAN pepinfo swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NXT1_HUMAN pepnet swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NXT1_HUMAN pepstats swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NXT1_HUMAN pepwheel swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NXT1_HUMAN pepwindow swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NXT1_HUMAN sigcleave swissprot:NXT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NXT1_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000377420 ENSP00000366637; ENSG00000204779 # GO_component GO:0005634 nucleus; IBA:GO_Central. # GO_function GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding; IBA:GO_Central. # GO_function GO:0043565 sequence-specific DNA binding; IEA:InterPro. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GOslim_component GO:0005634 nucleus # GOslim_function GO:0001071 nucleic acid binding transcription factor activity # GOslim_function GO:0003677 DNA binding # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Gene3D 1.10.10.10 -; 1. # HGNC HGNC:18522 FOXD4L5 # InterPro IPR001766 Fork_head_dom # InterPro IPR011991 WHTH_DNA-bd_dom # InterPro IPR018122 TF_fork_head_CS_1 # InterPro IPR030456 TF_fork_head_CS_2 # Organism FX4L5_HUMAN Homo sapiens (Human) # PRINTS PR00053 FORKHEAD # PROSITE PS00657 FORK_HEAD_1 # PROSITE PS00658 FORK_HEAD_2 # PROSITE PS50039 FORK_HEAD_3 # Pfam PF00250 Forkhead # Proteomes UP000005640 Chromosome 9 # RecName FX4L5_HUMAN Forkhead box protein D4-like 5 # RefSeq NP_001119806 NM_001126334.1 # SIMILARITY Contains 1 fork-head DNA-binding domain. {ECO:0000255|PROSITE-ProRule PRU00089}. # SMART SM00339 FH # SUBCELLULAR LOCATION FX4L5_HUMAN Nucleus {ECO 0000255|PROSITE- ProRule PRU00089}. # SUPFAM SSF46785 SSF46785 # UCSC uc010moc human # eggNOG COG5025 LUCA # eggNOG KOG2294 Eukaryota BLAST swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FX4L5_HUMAN BioCyc ZFISH:G66-32326-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32326-MONOMER COXPRESdb 653427 http://coxpresdb.jp/data/gene/653427.shtml CleanEx HS_FOXD4L5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FOXD4L5 DOI 10.1038/nature02465 http://dx.doi.org/10.1038/nature02465 EMBL AL512605 http://www.ebi.ac.uk/ena/data/view/AL512605 Ensembl ENST00000377420 http://www.ensembl.org/id/ENST00000377420 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_function GO:0000981 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000981 GO_function GO:0043565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043565 GO_process GO:0006351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006351 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0001071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001071 GOslim_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 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 1.10.10.10 http://www.cathdb.info/version/latest/superfamily/1.10.10.10 GeneCards FOXD4L5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FOXD4L5 GeneID 653427 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=653427 GeneTree ENSGT00760000118904 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118904 HGNC HGNC:18522 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18522 HOGENOM HOG000231285 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231285&db=HOGENOM6 HOVERGEN HBG051641 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051641&db=HOVERGEN HPA HPA012836 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA012836 InParanoid Q5VV16 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5VV16 InterPro IPR001766 http://www.ebi.ac.uk/interpro/entry/IPR001766 InterPro IPR011991 http://www.ebi.ac.uk/interpro/entry/IPR011991 InterPro IPR018122 http://www.ebi.ac.uk/interpro/entry/IPR018122 InterPro IPR030456 http://www.ebi.ac.uk/interpro/entry/IPR030456 Jabion 653427 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=653427 KEGG_Gene hsa:653427 http://www.genome.jp/dbget-bin/www_bget?hsa:653427 OrthoDB EOG091G0HW9 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HW9 PRINTS PR00053 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00053 PROSITE PS00657 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00657 PROSITE PS00658 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00658 PROSITE PS50039 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50039 PSORT swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FX4L5_HUMAN PSORT-B swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FX4L5_HUMAN PSORT2 swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FX4L5_HUMAN Pfam PF00250 http://pfam.xfam.org/family/PF00250 PharmGKB PA162388804 http://www.pharmgkb.org/do/serve?objId=PA162388804&objCls=Gene Phobius swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FX4L5_HUMAN PhylomeDB Q5VV16 http://phylomedb.org/?seqid=Q5VV16 ProteinModelPortal Q5VV16 http://www.proteinmodelportal.org/query/uniprot/Q5VV16 PubMed 15164053 http://www.ncbi.nlm.nih.gov/pubmed/15164053 RefSeq NP_001119806 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001119806 SMART SM00339 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00339 SMR Q5VV16 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q5VV16 STRING 9606.ENSP00000366637 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000366637&targetmode=cogs SUPFAM SSF46785 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF46785 UCSC uc010moc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010moc&org=rat UniGene Hs.714683 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.714683 UniProtKB FX4L5_HUMAN http://www.uniprot.org/uniprot/FX4L5_HUMAN UniProtKB-AC Q5VV16 http://www.uniprot.org/uniprot/Q5VV16 charge swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FX4L5_HUMAN eggNOG COG5025 http://eggnogapi.embl.de/nog_data/html/tree/COG5025 eggNOG KOG2294 http://eggnogapi.embl.de/nog_data/html/tree/KOG2294 epestfind swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FX4L5_HUMAN garnier swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FX4L5_HUMAN helixturnhelix swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FX4L5_HUMAN hmoment swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FX4L5_HUMAN iep swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FX4L5_HUMAN inforesidue swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FX4L5_HUMAN neXtProt NX_Q5VV16 http://www.nextprot.org/db/entry/NX_Q5VV16 octanol swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FX4L5_HUMAN pepcoil swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FX4L5_HUMAN pepdigest swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FX4L5_HUMAN pepinfo swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FX4L5_HUMAN pepnet swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FX4L5_HUMAN pepstats swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FX4L5_HUMAN pepwheel swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FX4L5_HUMAN pepwindow swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FX4L5_HUMAN sigcleave swissprot:FX4L5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FX4L5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PHF23_HUMAN Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BUL5-1; Sequence=Displayed; Name=2; Synonyms=JUNE1B; IsoId=Q9BUL5-2; Sequence=VSP_027962, VSP_027963; Note=No experimental confirmation available.; Name=3; IsoId=Q9BUL5-3; Sequence=VSP_056058; Note=No experimental confirmation available.; Name=4; IsoId=Q9BUL5-4; Sequence=VSP_057218; Note=No experimental confirmation available.; # AltName PDH-containing protein JUNE-1 {ECO:0000250|UniProtKB Q8BSN5} # BioGrid 122561 13 # CCDS CCDS42250 -. [Q9BUL5-1] # CCDS CCDS67143 -. [Q9BUL5-4] # CCDS CCDS67144 -. [Q9BUL5-3] # ChiTaRS PHF23 human # DISEASE PHF23_HUMAN Note=A chromosomal aberration involving PHF23 is found in a patient with acute myeloid leukemia (AML). Translocation t(11;17)(p15;p13) with NUP98. # DOMAIN PHF23_HUMAN The PHD-type zinc-finger domain is required for interaction with LRSAM1 and negative regulation of autophagy. {ECO 0000269|PubMed 25484098}. # Ensembl ENST00000320316 ENSP00000322579; ENSG00000040633. [Q9BUL5-1] # Ensembl ENST00000454255 ENSP00000414607; ENSG00000040633. [Q9BUL5-4] # Ensembl ENST00000571362 ENSP00000460738; ENSG00000040633. [Q9BUL5-3] # ExpressionAtlas Q9BUL5 baseline and differential # FUNCTION PHF23_HUMAN Acts as a negative regulator of autophagy, through promoting ubiquitination and degradation of LRSAM1, an E3 ubiquitin ligase that promotes autophagy in response to starvation or infecting bacteria. {ECO 0000269|PubMed 25484098}. # GO_component GO:0005634 nucleus; IEA:UniProtKB-SubCell. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_function GO:0008270 zinc ion binding; IEA:InterPro. # GO_process GO:0006914 autophagy; IEA:UniProtKB-KW. # GO_process GO:0031398 positive regulation of protein ubiquitination; IMP:GO_Central. # GO_process GO:1901097 negative regulation of autophagosome maturation; IMP:GO_Central. # GO_process GO:1902902 negative regulation of autophagosome assembly; IMP:GO_Central. # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006914 autophagy # GOslim_process GO:0008150 biological_process # Gene3D 3.30.40.10 -; 1. # Genevisible Q9BUL5 HS # HGNC HGNC:28428 PHF23 # IntAct Q9BUL5 6 # InterPro IPR001965 Znf_PHD # InterPro IPR011011 Znf_FYVE_PHD # InterPro IPR013083 Znf_RING/FYVE/PHD # InterPro IPR019787 Znf_PHD-finger # MIM 612910 gene # Organism PHF23_HUMAN Homo sapiens (Human) # Pfam PF00628 PHD # Proteomes UP000005640 Chromosome 17 # RecName PHD finger protein 23 {ECO:0000303|PubMed 25484098} # RefSeq NP_001271446 NM_001284517.1. [Q9BUL5-3] # RefSeq NP_001271447 NM_001284518.1. [Q9BUL5-4] # RefSeq NP_077273 NM_024297.2. [Q9BUL5-1] # SEQUENCE CAUTION Sequence=ABK59096.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15498.1; Type=Frameshift; Positions=241; Evidence={ECO 0000305}; # SIMILARITY Belongs to the PHF23 family. {ECO 0000305}. # SIMILARITY Contains 1 PHD-type zinc finger. {ECO 0000305}. # SMART SM00249 PHD # SUBCELLULAR LOCATION PHF23_HUMAN Nucleus {ECO 0000269|PubMed 25484098}. Cytoplasm {ECO 0000269|PubMed 25484098}. Note=Mainly present in the nucleus and part in the cytoplasm. {ECO 0000269|PubMed 25484098}. # SUBUNIT Interacts with LRSAM1. {ECO:0000269|PubMed 25484098}. # SUPFAM SSF57903 SSF57903 # TISSUE SPECIFICITY Widely expressed in human tissues and various cell lines. {ECO:0000269|PubMed 25484098}. # UCSC uc002gfa human. [Q9BUL5-1] # eggNOG ENOG410IMXF Eukaryota # eggNOG ENOG4111YY1 LUCA BLAST swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PHF23_HUMAN BioCyc ZFISH:ENSG00000040633-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000040633-MONOMER COXPRESdb 79142 http://coxpresdb.jp/data/gene/79142.shtml CleanEx HS_PHF23 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PHF23 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 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.leu.2404579 http://dx.doi.org/10.1038/sj.leu.2404579 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 10.1126/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 10.4161/auto.36439 http://dx.doi.org/10.4161/auto.36439 EMBL AC120057 http://www.ebi.ac.uk/ena/data/view/AC120057 EMBL AK026537 http://www.ebi.ac.uk/ena/data/view/AK026537 EMBL AK074766 http://www.ebi.ac.uk/ena/data/view/AK074766 EMBL AK122901 http://www.ebi.ac.uk/ena/data/view/AK122901 EMBL AK297040 http://www.ebi.ac.uk/ena/data/view/AK297040 EMBL AY099328 http://www.ebi.ac.uk/ena/data/view/AY099328 EMBL BC002509 http://www.ebi.ac.uk/ena/data/view/BC002509 EMBL BC008630 http://www.ebi.ac.uk/ena/data/view/BC008630 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 EF071958 http://www.ebi.ac.uk/ena/data/view/EF071958 EMBL EF071959 http://www.ebi.ac.uk/ena/data/view/EF071959 Ensembl ENST00000320316 http://www.ensembl.org/id/ENST00000320316 Ensembl ENST00000454255 http://www.ensembl.org/id/ENST00000454255 Ensembl ENST00000571362 http://www.ensembl.org/id/ENST00000571362 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_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 GO_process GO:0031398 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031398 GO_process GO:1901097 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901097 GO_process GO:1902902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902902 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:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 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 PHF23 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PHF23 GeneID 79142 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79142 GeneTree ENSGT00530000063882 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063882 HGNC HGNC:28428 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28428 HOGENOM HOG000010286 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000010286&db=HOGENOM6 HOVERGEN HBG071437 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG071437&db=HOVERGEN HPA HPA052410 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052410 InParanoid Q9BUL5 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BUL5 IntAct Q9BUL5 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BUL5* InterPro IPR001965 http://www.ebi.ac.uk/interpro/entry/IPR001965 InterPro IPR011011 http://www.ebi.ac.uk/interpro/entry/IPR011011 InterPro IPR013083 http://www.ebi.ac.uk/interpro/entry/IPR013083 InterPro IPR019787 http://www.ebi.ac.uk/interpro/entry/IPR019787 Jabion 79142 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79142 KEGG_Gene hsa:79142 http://www.genome.jp/dbget-bin/www_bget?hsa:79142 MIM 612910 http://www.ncbi.nlm.nih.gov/omim/612910 MINT MINT-1413777 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1413777 OMA ETWIADE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ETWIADE OrthoDB EOG091G0GX5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GX5 PSORT swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PHF23_HUMAN PSORT-B swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PHF23_HUMAN PSORT2 swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PHF23_HUMAN Pfam PF00628 http://pfam.xfam.org/family/PF00628 PharmGKB PA142671175 http://www.pharmgkb.org/do/serve?objId=PA142671175&objCls=Gene Phobius swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PHF23_HUMAN PhylomeDB Q9BUL5 http://phylomedb.org/?seqid=Q9BUL5 ProteinModelPortal Q9BUL5 http://www.proteinmodelportal.org/query/uniprot/Q9BUL5 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 17287853 http://www.ncbi.nlm.nih.gov/pubmed/17287853 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 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 25484098 http://www.ncbi.nlm.nih.gov/pubmed/25484098 RefSeq NP_001271446 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001271446 RefSeq NP_001271447 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001271447 RefSeq NP_077273 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_077273 SMART SM00249 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00249 SMR Q9BUL5 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BUL5 STRING 9606.ENSP00000322579 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000322579&targetmode=cogs SUPFAM SSF57903 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF57903 UCSC uc002gfa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gfa&org=rat UniGene Hs.644724 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.644724 UniProtKB PHF23_HUMAN http://www.uniprot.org/uniprot/PHF23_HUMAN UniProtKB-AC Q9BUL5 http://www.uniprot.org/uniprot/Q9BUL5 charge swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PHF23_HUMAN eggNOG ENOG410IMXF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IMXF eggNOG ENOG4111YY1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111YY1 epestfind swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PHF23_HUMAN garnier swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PHF23_HUMAN helixturnhelix swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PHF23_HUMAN hmoment swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PHF23_HUMAN iep swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PHF23_HUMAN inforesidue swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PHF23_HUMAN neXtProt NX_Q9BUL5 http://www.nextprot.org/db/entry/NX_Q9BUL5 octanol swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PHF23_HUMAN pepcoil swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PHF23_HUMAN pepdigest swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PHF23_HUMAN pepinfo swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PHF23_HUMAN pepnet swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PHF23_HUMAN pepstats swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PHF23_HUMAN pepwheel swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PHF23_HUMAN pepwindow swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PHF23_HUMAN sigcleave swissprot:PHF23_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PHF23_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PPR37_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75864-1; Sequence=Displayed; Name=2; IsoId=O75864-2; Sequence=VSP_031754, VSP_031755; Note=Due to an intron retention. No experimental confirmation available.; # AltName PPR37_HUMAN Leucine-rich repeat-containing protein 68 # BioGrid 129838 6 # CCDS CCDS56096 -. [O75864-1] # Ensembl ENST00000221462 ENSP00000221462; ENSG00000104866. [O75864-1] # ExpressionAtlas O75864 baseline and differential # FUNCTION PPR37_HUMAN Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. {ECO 0000269|PubMed 19389623}. # GO_function GO:0004864 protein phosphatase inhibitor activity; IEA:UniProtKB-KW. # GO_function GO:0019902 phosphatase binding; IDA:UniProtKB. # GO_process GO:0010923 negative regulation of phosphatase activity; IDA:UniProtKB. # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0030234 enzyme regulator activity # GOslim_process GO:0008150 biological_process # Gene3D 3.80.10.10 -; 2. # Genevisible O75864 HS # HGNC HGNC:27607 PPP1R37 # INTERACTION PPR37_HUMAN P62136 PPP1CA; NbExp=2; IntAct=EBI-5235692, EBI-357253; # IntAct O75864 8 # InterPro IPR001611 Leu-rich_rpt # InterPro IPR032675 L_dom-like # Organism PPR37_HUMAN Homo sapiens (Human) # PROSITE PS51450 LRR; 5 # Pfam PF13516 LRR_6; 3 # Proteomes UP000005640 Chromosome 19 # RecName PPR37_HUMAN Protein phosphatase 1 regulatory subunit 37 # RefSeq NP_061994 NM_019121.1. [O75864-1] # SEQUENCE CAUTION Sequence=AAC62258.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB85572.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the PPP1R37 family. {ECO 0000305}. # SIMILARITY Contains 5 LRR (leucine-rich) repeats. {ECO 0000305}. # SUBUNIT Interacts with PPP1CA. {ECO:0000269|PubMed 19389623}. # UCSC uc021uvs human. [O75864-1] # eggNOG ENOG410XSTR LUCA # eggNOG KOG1908 Eukaryota BLAST swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PPR37_HUMAN BioCyc ZFISH:ENSG00000104866-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000104866-MONOMER COXPRESdb 284352 http://coxpresdb.jp/data/gene/284352.shtml CleanEx HS_LRRC68 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LRRC68 DOI 10.1016/j.chembiol.2009.02.012 http://dx.doi.org/10.1016/j.chembiol.2009.02.012 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 10.1093/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 EMBL AB075866 http://www.ebi.ac.uk/ena/data/view/AB075866 EMBL AC005757 http://www.ebi.ac.uk/ena/data/view/AC005757 EMBL AC011489 http://www.ebi.ac.uk/ena/data/view/AC011489 EMBL BC035704 http://www.ebi.ac.uk/ena/data/view/BC035704 EMBL BQ638089 http://www.ebi.ac.uk/ena/data/view/BQ638089 Ensembl ENST00000221462 http://www.ensembl.org/id/ENST00000221462 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_function GO:0004864 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004864 GO_function GO:0019902 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019902 GO_process GO:0010923 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010923 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:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 3.80.10.10 http://www.cathdb.info/version/latest/superfamily/3.80.10.10 GeneCards PPP1R37 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PPP1R37 GeneID 284352 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=284352 GeneTree ENSGT00730000111194 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111194 H-InvDB HIX0015224 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0015224 HGNC HGNC:27607 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:27607 HOGENOM HOG000074153 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000074153&db=HOGENOM6 HOVERGEN HBG108102 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108102&db=HOVERGEN HPA HPA041500 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041500 InParanoid O75864 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O75864 IntAct O75864 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75864* InterPro IPR001611 http://www.ebi.ac.uk/interpro/entry/IPR001611 InterPro IPR032675 http://www.ebi.ac.uk/interpro/entry/IPR032675 Jabion 284352 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=284352 KEGG_Gene hsa:284352 http://www.genome.jp/dbget-bin/www_bget?hsa:284352 MINT MINT-1193517 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1193517 OMA NGCKRNL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NGCKRNL OrthoDB EOG091G0KU7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0KU7 PROSITE PS51450 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51450 PSORT swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PPR37_HUMAN PSORT-B swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PPR37_HUMAN PSORT2 swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PPR37_HUMAN Pfam PF13516 http://pfam.xfam.org/family/PF13516 Phobius swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PPR37_HUMAN PhylomeDB O75864 http://phylomedb.org/?seqid=O75864 ProteinModelPortal O75864 http://www.proteinmodelportal.org/query/uniprot/O75864 PubMed 11853319 http://www.ncbi.nlm.nih.gov/pubmed/11853319 PubMed 12107411 http://www.ncbi.nlm.nih.gov/pubmed/12107411 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19389623 http://www.ncbi.nlm.nih.gov/pubmed/19389623 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_061994 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061994 STRING 9606.ENSP00000221462 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000221462&targetmode=cogs UCSC uc021uvs http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc021uvs&org=rat UniGene Hs.285363 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.285363 UniProtKB PPR37_HUMAN http://www.uniprot.org/uniprot/PPR37_HUMAN UniProtKB-AC O75864 http://www.uniprot.org/uniprot/O75864 charge swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PPR37_HUMAN eggNOG ENOG410XSTR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSTR eggNOG KOG1908 http://eggnogapi.embl.de/nog_data/html/tree/KOG1908 epestfind swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PPR37_HUMAN garnier swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PPR37_HUMAN helixturnhelix swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PPR37_HUMAN hmoment swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PPR37_HUMAN iep swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PPR37_HUMAN inforesidue swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PPR37_HUMAN neXtProt NX_O75864 http://www.nextprot.org/db/entry/NX_O75864 octanol swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PPR37_HUMAN pepcoil swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PPR37_HUMAN pepdigest swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PPR37_HUMAN pepinfo swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PPR37_HUMAN pepnet swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PPR37_HUMAN pepstats swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PPR37_HUMAN pepwheel swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PPR37_HUMAN pepwindow swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PPR37_HUMAN sigcleave swissprot:PPR37_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PPR37_HUMAN ## Database ID URL or Descriptions # AltName MUCB_HUMAN BOT # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0072562 blood microparticle; IDA:UniProtKB. # GO_function GO:0003823 antigen binding; TAS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # Gene3D 2.60.40.10 -; 3. # InterPro IPR003006 Ig/MHC_CS # InterPro IPR003597 Ig_C1-set # InterPro IPR007110 Ig-like_dom # InterPro IPR013783 Ig-like_fold # MISCELLANEOUS MUCB_HUMAN This protein has no V region homology or CH1 region. # Organism MUCB_HUMAN Homo sapiens (Human) # PIR A02163 MHHUBT # PROSITE PS00290 IG_MHC; 3 # PROSITE PS50835 IG_LIKE; 3 # Pfam PF07654 C1-set; 3 # Proteomes UP000005640 Unplaced # RecName MUCB_HUMAN Ig mu heavy chain disease protein # SMART SM00407 IGc1; 3 # SUPFAM SSF48726 SSF48726; 3 BLAST swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MUCB_HUMAN DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1515/bchm2.1984.365.1.105 http://dx.doi.org/10.1515/bchm2.1984.365.1.105 G-Links 9606 http://link.g-language.org/9606/format=tsv 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:0003823 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003823 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 Gene3D 2.60.40.10 http://www.cathdb.info/version/latest/superfamily/2.60.40.10 HOVERGEN HBG005814 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005814&db=HOVERGEN 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 IPR013783 http://www.ebi.ac.uk/interpro/entry/IPR013783 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:MUCB_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MUCB_HUMAN PSORT-B swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MUCB_HUMAN PSORT2 swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MUCB_HUMAN Pfam PF07654 http://pfam.xfam.org/family/PF07654 Phobius swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MUCB_HUMAN PhylomeDB P04220 http://phylomedb.org/?seqid=P04220 ProteinModelPortal P04220 http://www.proteinmodelportal.org/query/uniprot/P04220 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 6425189 http://www.ncbi.nlm.nih.gov/pubmed/6425189 SMART SM00407 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00407 SMR P04220 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P04220 SUPFAM SSF48726 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726 UniProtKB MUCB_HUMAN http://www.uniprot.org/uniprot/MUCB_HUMAN UniProtKB-AC P04220 http://www.uniprot.org/uniprot/P04220 charge swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MUCB_HUMAN epestfind swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MUCB_HUMAN garnier swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MUCB_HUMAN helixturnhelix swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MUCB_HUMAN hmoment swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MUCB_HUMAN iep swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MUCB_HUMAN inforesidue swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MUCB_HUMAN octanol swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MUCB_HUMAN pepcoil swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MUCB_HUMAN pepdigest swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MUCB_HUMAN pepinfo swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MUCB_HUMAN pepnet swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MUCB_HUMAN pepstats swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MUCB_HUMAN pepwheel swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MUCB_HUMAN pepwindow swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MUCB_HUMAN sigcleave swissprot:MUCB_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MUCB_HUMAN ## Database ID URL or Descriptions # AltName NDK3_HUMAN DR-nm23 # AltName NDK3_HUMAN Nucleoside diphosphate kinase C # AltName NDK3_HUMAN nm23-H3 # BioGrid 110896 21 # CATALYTIC ACTIVITY NDK3_HUMAN ATP + nucleoside diphosphate = ADP + nucleoside triphosphate. # COFACTOR Name=Mg(2+); Xref=ChEBI:CHEBI 18420; Evidence={ECO:0000250}; # ChiTaRS NME3 human # DEVELOPMENTAL STAGE NDK3_HUMAN Preferentially expressed at early stages of myeloid differentiation of highly purified CD34+ cells. # Ensembl ENST00000219302 ENSP00000219302; ENSG00000103024 # ExpressionAtlas Q13232 baseline and differential # FUNCTION NDK3_HUMAN Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Probably has a role in normal hematopoiesis by inhibition of granulocyte differentiation and induction of apoptosis. # GO_component GO:0005622 intracellular; IBA:GO_Central. # GO_component GO:0005739 mitochondrion; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004550 nucleoside diphosphate kinase 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:0006163 purine nucleotide metabolic process; IBA:GO_Central. # GO_process GO:0006183 GTP biosynthetic process; IEA:InterPro. # GO_process GO:0006220 pyrimidine nucleotide metabolic process; IBA:GO_Central. # GO_process GO:0006228 UTP biosynthetic process; IEA:InterPro. # GO_process GO:0006241 CTP biosynthetic process; IEA:InterPro. # GO_process GO:0006915 apoptotic process; TAS:ProtInc. # GO_process GO:0009142 nucleoside triphosphate biosynthetic process; IBA:GO_Central. # GO_process GO:0042981 regulation of apoptotic process; IBA:GO_Central. # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0043226 organelle # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0043167 ion binding # 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 # GOslim_process GO:0044281 small molecule metabolic process # Genevisible Q13232 HS # HAMAP MF_00451 NDP_kinase # HGNC HGNC:7851 NME3 # INTERACTION NDK3_HUMAN P15531 NME1; NbExp=4; IntAct=EBI-713684, EBI-741141; O43765 SGTA; NbExp=6; IntAct=EBI-713684, EBI-347996; Q9UMX0 UBQLN1; NbExp=5; IntAct=EBI-713684, EBI-741480; Q9UMX0-2 UBQLN1; NbExp=3; IntAct=EBI-713684, EBI-10173939; # IntAct Q13232 13 # InterPro IPR001564 Nucleoside_diP_kinase # InterPro IPR023005 Nucleoside_diP_kinase_AS # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00230 Purine metabolism # KEGG_Pathway ko00240 Pyrimidine metabolism # MIM 601817 gene # Organism NDK3_HUMAN Homo sapiens (Human) # PDB 1ZS6 X-ray; 2.30 A; A/B/D=1-169 # PIR I39074 I39074 # PRINTS PR01243 NUCDPKINASE # PROSITE PS00469 NDP_KINASES # Pfam PF00334 NDK # Proteomes UP000005640 Chromosome 16 # RecName NDK3_HUMAN Nucleoside diphosphate kinase 3 # RefSeq NP_002504 NM_002513.2 # SIMILARITY Belongs to the NDK family. {ECO 0000305}. # SMART SM00562 NDK # UCSC uc002cmm human # eggNOG COG0105 LUCA # eggNOG KOG0888 Eukaryota BLAST swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NDK3_HUMAN BioCyc ZFISH:HS02442-MONOMER http://biocyc.org/getid?id=ZFISH:HS02442-MONOMER COG COG0105 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0105 COXPRESdb 4832 http://coxpresdb.jp/data/gene/4832.shtml CleanEx HS_NME3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NME3 DIP DIP-49960N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-49960N DOI 10.1073/pnas.92.16.7435 http://dx.doi.org/10.1073/pnas.92.16.7435 DOI 10.1093/hmg/10.4.339 http://dx.doi.org/10.1093/hmg/10.4.339 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:2.7.4.6 http://www.genome.jp/dbget-bin/www_bget?EC:2.7.4.6 EMBL AE006639 http://www.ebi.ac.uk/ena/data/view/AE006639 EMBL BC000250 http://www.ebi.ac.uk/ena/data/view/BC000250 EMBL U29656 http://www.ebi.ac.uk/ena/data/view/U29656 ENZYME 2.7.4.6 http://enzyme.expasy.org/EC/2.7.4.6 Ensembl ENST00000219302 http://www.ensembl.org/id/ENST00000219302 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:0005739 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004550 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004550 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:0006163 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006163 GO_process GO:0006183 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006183 GO_process GO:0006220 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006220 GO_process GO:0006228 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006228 GO_process GO:0006241 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006241 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0009142 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009142 GO_process GO:0042981 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042981 GOslim_component GO:0005622 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622 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:0016301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016301 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: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 GOslim_process GO:0044281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281 GeneCards NME3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NME3 GeneID 4832 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4832 GeneTree ENSGT00760000119146 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119146 HAMAP MF_00451 http://hamap.expasy.org/unirule/MF_00451 HGNC HGNC:7851 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7851 HOGENOM HOG000224564 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000224564&db=HOGENOM6 HOVERGEN HBG000423 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000423&db=HOVERGEN HPA HPA041113 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041113 HPA HPA052733 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052733 InParanoid Q13232 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13232 IntAct Q13232 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13232* IntEnz 2.7.4.6 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.7.4.6 InterPro IPR001564 http://www.ebi.ac.uk/interpro/entry/IPR001564 InterPro IPR023005 http://www.ebi.ac.uk/interpro/entry/IPR023005 Jabion 4832 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4832 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:4832 http://www.genome.jp/dbget-bin/www_bget?hsa:4832 KEGG_Orthology KO:K00940 http://www.genome.jp/dbget-bin/www_bget?KO:K00940 KEGG_Pathway ko00230 http://www.genome.jp/kegg-bin/show_pathway?ko00230 KEGG_Pathway ko00240 http://www.genome.jp/kegg-bin/show_pathway?ko00240 KEGG_Reaction rn:R00124 http://www.genome.jp/dbget-bin/www_bget?rn:R00124 KEGG_Reaction rn:R00156 http://www.genome.jp/dbget-bin/www_bget?rn:R00156 KEGG_Reaction rn:R00330 http://www.genome.jp/dbget-bin/www_bget?rn:R00330 KEGG_Reaction rn:R00570 http://www.genome.jp/dbget-bin/www_bget?rn:R00570 KEGG_Reaction rn:R00722 http://www.genome.jp/dbget-bin/www_bget?rn:R00722 KEGG_Reaction rn:R01137 http://www.genome.jp/dbget-bin/www_bget?rn:R01137 KEGG_Reaction rn:R01857 http://www.genome.jp/dbget-bin/www_bget?rn:R01857 KEGG_Reaction rn:R02093 http://www.genome.jp/dbget-bin/www_bget?rn:R02093 KEGG_Reaction rn:R02326 http://www.genome.jp/dbget-bin/www_bget?rn:R02326 KEGG_Reaction rn:R02331 http://www.genome.jp/dbget-bin/www_bget?rn:R02331 KEGG_Reaction rn:R03530 http://www.genome.jp/dbget-bin/www_bget?rn:R03530 MIM 601817 http://www.ncbi.nlm.nih.gov/omim/601817 MINT MINT-1429907 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1429907 OMA CVEVGRN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CVEVGRN OrthoDB EOG091G0PLD http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0PLD PDB 1ZS6 http://www.ebi.ac.uk/pdbe-srv/view/entry/1ZS6 PDBsum 1ZS6 http://www.ebi.ac.uk/pdbsum/1ZS6 PRINTS PR01243 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01243 PROSITE PS00469 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00469 PSORT swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NDK3_HUMAN PSORT-B swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NDK3_HUMAN PSORT2 swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NDK3_HUMAN Pfam PF00334 http://pfam.xfam.org/family/PF00334 PharmGKB PA31656 http://www.pharmgkb.org/do/serve?objId=PA31656&objCls=Gene Phobius swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NDK3_HUMAN PhylomeDB Q13232 http://phylomedb.org/?seqid=Q13232 ProteinModelPortal Q13232 http://www.proteinmodelportal.org/query/uniprot/Q13232 PubMed 11157797 http://www.ncbi.nlm.nih.gov/pubmed/11157797 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 7638209 http://www.ncbi.nlm.nih.gov/pubmed/7638209 RefSeq NP_002504 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002504 SMART SM00562 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00562 SMR Q13232 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13232 STRING 9606.ENSP00000219302 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000219302&targetmode=cogs STRING COG0105 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0105&targetmode=cogs UCSC uc002cmm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002cmm&org=rat UniGene Hs.514065 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.514065 UniProtKB NDK3_HUMAN http://www.uniprot.org/uniprot/NDK3_HUMAN UniProtKB-AC Q13232 http://www.uniprot.org/uniprot/Q13232 charge swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NDK3_HUMAN eggNOG COG0105 http://eggnogapi.embl.de/nog_data/html/tree/COG0105 eggNOG KOG0888 http://eggnogapi.embl.de/nog_data/html/tree/KOG0888 epestfind swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NDK3_HUMAN garnier swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NDK3_HUMAN helixturnhelix swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NDK3_HUMAN hmoment swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NDK3_HUMAN iep swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NDK3_HUMAN inforesidue swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NDK3_HUMAN neXtProt NX_Q13232 http://www.nextprot.org/db/entry/NX_Q13232 octanol swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NDK3_HUMAN pepcoil swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NDK3_HUMAN pepdigest swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NDK3_HUMAN pepinfo swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NDK3_HUMAN pepnet swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NDK3_HUMAN pepstats swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NDK3_HUMAN pepwheel swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NDK3_HUMAN pepwindow swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NDK3_HUMAN sigcleave swissprot:NDK3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NDK3_HUMAN ## Database ID URL or Descriptions # AltName PE2R1_HUMAN Prostanoid EP1 receptor # DrugBank DB00297 Bupivacaine # DrugBank DB00429 Carboprost Tromethamine # DrugBank DB00770 Alprostadil # DrugBank DB00905 Bimatoprost # DrugBank DB00917 Dinoprostone # DrugBank DB01088 Iloprost # Ensembl ENST00000292513 ENSP00000292513; ENSG00000160951 # FUNCTION PE2R1_HUMAN Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0005887 integral component of plasma membrane; TAS:ProtInc. # GO_function GO:0004957 prostaglandin E receptor activity; TAS:ProtInc. # GO_process GO:0006954 inflammatory response; IBA:GO_Central. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; TAS:ProtInc. # GO_process GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway; IBA:GO_Central. # GO_process GO:0007204 positive regulation of cytosolic calcium ion concentration; IBA:GO_Central. # GO_process GO:0032496 response to lipopolysaccharide; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0004871 signal transducer activity # 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 # Genevisible P34995 HS # HGNC HGNC:9593 PTGER1 # InterPro IPR000276 GPCR_Rhodpsn # InterPro IPR000708 Prostglndn_EP1_rcpt # InterPro IPR001244 Prostglndn_DP_rcpt # InterPro IPR008365 Prostanoid_rcpt # InterPro IPR017452 GPCR_Rhodpsn_7TM # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04030 G protein-coupled receptors # KEGG_Pathway ko04020 Calcium signaling pathway # KEGG_Pathway ko04080 Neuroactive ligand-receptor interaction # MIM 176802 gene # Organism PE2R1_HUMAN Homo sapiens (Human) # PANTHER PTHR11866 PTHR11866; 2 # PANTHER PTHR11866:SF3 PTHR11866:SF3; 2 # PIR A49690 A49690 # PRINTS PR00428 PROSTAGLNDNR # PRINTS PR00580 PRSTNOIDEP1R # PRINTS PR01788 PROSTANOIDR # PROSITE PS00237 G_PROTEIN_RECEP_F1_1 # PROSITE PS50262 G_PROTEIN_RECEP_F1_2 # PTM PE2R1_HUMAN Phosphorylated. {ECO 0000305}. # Pfam PF00001 7tm_1 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-391908 Prostanoid ligand receptors # Reactome R-HSA-416476 G alpha (q) signalling events # RecName PE2R1_HUMAN Prostaglandin E2 receptor EP1 subtype # RefSeq NP_000946 NM_000955.2 # SEQUENCE CAUTION Sequence=BAC05723.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule PRU00521}. # SUBCELLULAR LOCATION PE2R1_HUMAN Cell membrane; Multi-pass membrane protein. # TCDB 9.A.14.9 the g-protein-coupled receptor (gpcr) family # TISSUE SPECIFICITY PE2R1_HUMAN Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. # UCSC uc002mys human # eggNOG ENOG410XRW9 LUCA # eggNOG KOG3656 Eukaryota BLAST swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PE2R1_HUMAN BioCyc ZFISH:ENSG00000160951-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000160951-MONOMER COXPRESdb 5731 http://coxpresdb.jp/data/gene/5731.shtml CleanEx HS_PTGER1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PTGER1 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DrugBank DB00297 http://www.drugbank.ca/drugs/DB00297 DrugBank DB00429 http://www.drugbank.ca/drugs/DB00429 DrugBank DB00770 http://www.drugbank.ca/drugs/DB00770 DrugBank DB00905 http://www.drugbank.ca/drugs/DB00905 DrugBank DB00917 http://www.drugbank.ca/drugs/DB00917 DrugBank DB01088 http://www.drugbank.ca/drugs/DB01088 EMBL AB065464 http://www.ebi.ac.uk/ena/data/view/AB065464 EMBL AY275470 http://www.ebi.ac.uk/ena/data/view/AY275470 EMBL BC039034 http://www.ebi.ac.uk/ena/data/view/BC039034 EMBL BC051286 http://www.ebi.ac.uk/ena/data/view/BC051286 EMBL L22647 http://www.ebi.ac.uk/ena/data/view/L22647 Ensembl ENST00000292513 http://www.ensembl.org/id/ENST00000292513 G-Links 9606 http://link.g-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:0004957 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004957 GO_process GO:0006954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006954 GO_process GO:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 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:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/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_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 GeneCards PTGER1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PTGER1 GeneID 5731 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5731 GeneTree ENSGT00760000119188 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119188 HGNC HGNC:9593 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9593 HOGENOM HOG000015238 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000015238&db=HOGENOM6 HOVERGEN HBG003621 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003621&db=HOVERGEN InParanoid P34995 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P34995 InterPro IPR000276 http://www.ebi.ac.uk/interpro/entry/IPR000276 InterPro IPR000708 http://www.ebi.ac.uk/interpro/entry/IPR000708 InterPro IPR001244 http://www.ebi.ac.uk/interpro/entry/IPR001244 InterPro IPR008365 http://www.ebi.ac.uk/interpro/entry/IPR008365 InterPro IPR017452 http://www.ebi.ac.uk/interpro/entry/IPR017452 Jabion 5731 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5731 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:5731 http://www.genome.jp/dbget-bin/www_bget?hsa:5731 KEGG_Orthology KO:K04258 http://www.genome.jp/dbget-bin/www_bget?KO:K04258 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 176802 http://www.ncbi.nlm.nih.gov/omim/176802 OMA TTCAAPW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TTCAAPW OrthoDB EOG091G0NMF http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0NMF PANTHER PTHR11866 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11866 PANTHER PTHR11866:SF3 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11866:SF3 PRINTS PR00428 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00428 PRINTS PR00580 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00580 PRINTS PR01788 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01788 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:PE2R1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PE2R1_HUMAN PSORT-B swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PE2R1_HUMAN PSORT2 swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PE2R1_HUMAN Pfam PF00001 http://pfam.xfam.org/family/PF00001 PharmGKB PA286 http://www.pharmgkb.org/do/serve?objId=PA286&objCls=Gene Phobius swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PE2R1_HUMAN PhylomeDB P34995 http://phylomedb.org/?seqid=P34995 ProteinModelPortal P34995 http://www.proteinmodelportal.org/query/uniprot/P34995 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 8253813 http://www.ncbi.nlm.nih.gov/pubmed/8253813 Reactome R-HSA-391908 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-391908 Reactome R-HSA-416476 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416476 RefSeq NP_000946 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000946 STRING 9606.ENSP00000292513 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000292513&targetmode=cogs TCDB 9.A.14.9 http://www.tcdb.org/search/result.php?tc=9.A.14.9 UCSC uc002mys http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002mys&org=rat UniGene Hs.159360 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.159360 UniProtKB PE2R1_HUMAN http://www.uniprot.org/uniprot/PE2R1_HUMAN UniProtKB-AC P34995 http://www.uniprot.org/uniprot/P34995 charge swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PE2R1_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:PE2R1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PE2R1_HUMAN garnier swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PE2R1_HUMAN helixturnhelix swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PE2R1_HUMAN hmoment swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PE2R1_HUMAN iep swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PE2R1_HUMAN inforesidue swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PE2R1_HUMAN neXtProt NX_P34995 http://www.nextprot.org/db/entry/NX_P34995 octanol swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PE2R1_HUMAN pepcoil swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PE2R1_HUMAN pepdigest swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PE2R1_HUMAN pepinfo swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PE2R1_HUMAN pepnet swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PE2R1_HUMAN pepstats swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PE2R1_HUMAN pepwheel swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PE2R1_HUMAN pepwindow swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PE2R1_HUMAN sigcleave swissprot:PE2R1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PE2R1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS WDR24_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96S15-1; Sequence=Displayed; Name=2; IsoId=Q96S15-2; Sequence=VSP_016180, VSP_016181; # BioGrid 123953 18 # CCDS CCDS10420 -. [Q96S15-2] # Ensembl ENST00000248142 ENSP00000248142; ENSG00000127580. [Q96S15-1] # Ensembl ENST00000293883 ENSP00000293883; ENSG00000127580. [Q96S15-2] # FUNCTION WDR24_HUMAN As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway (PubMed 23723238, PubMed 27166823). Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed 23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and GATSL3 (PubMed 26449471, PubMed 26586190, PubMed 27487210). In addition to its role in regulation of the TORC1 complex, promotes the acidification of lysosomes and facilitates autophagic flux (PubMed 27166823). {ECO 0000269|PubMed 23723238, ECO 0000269|PubMed 26449471, ECO 0000269|PubMed 26586190, ECO 0000269|PubMed 27166823, ECO 0000269|PubMed 27487210}. # GO_component GO:0061700 GATOR2 complex; IDA:SGD. # GO_process GO:0006914 autophagy; IEA:UniProtKB-KW. # GO_process GO:0010506 regulation of autophagy; IMP:UniProtKB. # GO_process GO:0032008 positive regulation of TOR signaling; IMP:UniProtKB. # GO_process GO:0034198 cellular response to amino acid starvation; IMP:UniProtKB. # GOslim_component GO:0043234 protein complex # GOslim_process GO:0006914 autophagy # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # Gene3D 2.130.10.10 -; 2. # Genevisible Q96S15 HS # HGNC HGNC:20852 WDR24 # INTERACTION WDR24_HUMAN Q92624 APPBP2; NbExp=4; IntAct=EBI-746424, EBI-743771; # IntAct Q96S15 6 # InterPro IPR001680 WD40_repeat # InterPro IPR015943 WD40/YVTN_repeat-like_dom # InterPro IPR017986 WD40_repeat_dom # InterPro IPR019775 WD40_repeat_CS # Organism WDR24_HUMAN Homo sapiens (Human) # PROSITE PS00678 WD_REPEATS_1; 3 # PROSITE PS50082 WD_REPEATS_2; 2 # PROSITE PS50294 WD_REPEATS_REGION; 2 # Pfam PF00400 WD40 # Proteomes UP000005640 Chromosome 16 # RecName WDR24_HUMAN WD repeat-containing protein 24 # RefSeq NP_115635 NM_032259.3. [Q96S15-2] # SIMILARITY Belongs to the WD repeat WDR24 family. {ECO 0000305}. # SIMILARITY Contains 6 WD repeats. {ECO:0000255|PROSITE- ProRule PRU00221}. # SMART SM00320 WD40; 6 # SUBUNIT WDR24_HUMAN Within the GATOR complex, component of the GATOR2 subcomplex, made of MIOS, SEC13, SEH1L, WDR24 and WDR59. The GATOR complex strongly interacts with RRAGA/RRAGC and RRAGB/RRAGC heterodimers (PubMed 23723238). The GATOR2 complex interacts with GATSL2 and GATSL3; the interaction is negatively regulated by arginine (PubMed 26972053). The GATOR2 complex interacts with SESN1, SESN2 and SESN3; the interaction is negatively regulated by amino acids (PubMed 25263562, PubMed 25457612, PubMed 26449471, PubMed 26586190). {ECO 0000269|PubMed 23723238, ECO 0000269|PubMed 25263562, ECO 0000269|PubMed 25457612, ECO 0000269|PubMed 26449471, ECO 0000269|PubMed 26586190, ECO 0000269|PubMed 26972053}. # SUPFAM SSF50978 SSF50978; 2 # UCSC uc002ciz human. [Q96S15-1] # eggNOG ENOG410XSJ6 LUCA # eggNOG KOG0269 Eukaryota BLAST swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:WDR24_HUMAN COXPRESdb 84219 http://coxpresdb.jp/data/gene/84219.shtml CleanEx HS_WDR24 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_WDR24 DIP DIP-53812N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-53812N DOI 10.1016/j.cell.2016.02.035 http://dx.doi.org/10.1016/j.cell.2016.02.035 DOI 10.1016/j.celrep.2014.09.014 http://dx.doi.org/10.1016/j.celrep.2014.09.014 DOI 10.1016/j.celrep.2014.10.019 http://dx.doi.org/10.1016/j.celrep.2014.10.019 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/nature19079 http://dx.doi.org/10.1038/nature19079 DOI 10.1093/hmg/10.4.339 http://dx.doi.org/10.1093/hmg/10.4.339 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.1232044 http://dx.doi.org/10.1126/science.1232044 DOI 10.1126/science.aab2674 http://dx.doi.org/10.1126/science.aab2674 DOI 10.1126/science.aad2087 http://dx.doi.org/10.1126/science.aad2087 DOI 10.1126/scisignal.2000007 http://dx.doi.org/10.1126/scisignal.2000007 DOI 10.1371/journal.pgen.1006036 http://dx.doi.org/10.1371/journal.pgen.1006036 EMBL AE006464 http://www.ebi.ac.uk/ena/data/view/AE006464 EMBL AL136863 http://www.ebi.ac.uk/ena/data/view/AL136863 EMBL BC008025 http://www.ebi.ac.uk/ena/data/view/BC008025 EMBL BC009761 http://www.ebi.ac.uk/ena/data/view/BC009761 EMBL CH471112 http://www.ebi.ac.uk/ena/data/view/CH471112 EMBL CH471112 http://www.ebi.ac.uk/ena/data/view/CH471112 EMBL Z92544 http://www.ebi.ac.uk/ena/data/view/Z92544 Ensembl ENST00000248142 http://www.ensembl.org/id/ENST00000248142 Ensembl ENST00000293883 http://www.ensembl.org/id/ENST00000293883 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0061700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061700 GO_process GO:0006914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006914 GO_process GO:0010506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010506 GO_process GO:0032008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032008 GO_process GO:0034198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034198 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 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:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 Gene3D 2.130.10.10 http://www.cathdb.info/version/latest/superfamily/2.130.10.10 GeneCards WDR24 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=WDR24 GeneID 84219 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84219 GeneTree ENSGT00850000132419 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00850000132419 HGNC HGNC:20852 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20852 HOGENOM HOG000234392 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234392&db=HOGENOM6 HOVERGEN HBG080644 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080644&db=HOVERGEN HPA HPA039506 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039506 InParanoid Q96S15 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96S15 IntAct Q96S15 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96S15* InterPro IPR001680 http://www.ebi.ac.uk/interpro/entry/IPR001680 InterPro IPR015943 http://www.ebi.ac.uk/interpro/entry/IPR015943 InterPro IPR017986 http://www.ebi.ac.uk/interpro/entry/IPR017986 InterPro IPR019775 http://www.ebi.ac.uk/interpro/entry/IPR019775 Jabion 84219 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84219 KEGG_Gene hsa:84219 http://www.genome.jp/dbget-bin/www_bget?hsa:84219 MINT MINT-1444376 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1444376 OMA SWFVDTA http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SWFVDTA OrthoDB EOG091G0052 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0052 PROSITE PS00678 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00678 PROSITE PS50082 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50082 PROSITE PS50294 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50294 PSORT swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:WDR24_HUMAN PSORT-B swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:WDR24_HUMAN PSORT2 swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:WDR24_HUMAN Pfam PF00400 http://pfam.xfam.org/family/PF00400 PharmGKB PA134918496 http://www.pharmgkb.org/do/serve?objId=PA134918496&objCls=Gene Phobius swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:WDR24_HUMAN PhylomeDB Q96S15 http://phylomedb.org/?seqid=Q96S15 ProteinModelPortal Q96S15 http://www.proteinmodelportal.org/query/uniprot/Q96S15 PubMed 11157797 http://www.ncbi.nlm.nih.gov/pubmed/11157797 PubMed 11230166 http://www.ncbi.nlm.nih.gov/pubmed/11230166 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23723238 http://www.ncbi.nlm.nih.gov/pubmed/23723238 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25263562 http://www.ncbi.nlm.nih.gov/pubmed/25263562 PubMed 25457612 http://www.ncbi.nlm.nih.gov/pubmed/25457612 PubMed 26449471 http://www.ncbi.nlm.nih.gov/pubmed/26449471 PubMed 26586190 http://www.ncbi.nlm.nih.gov/pubmed/26586190 PubMed 26972053 http://www.ncbi.nlm.nih.gov/pubmed/26972053 PubMed 27166823 http://www.ncbi.nlm.nih.gov/pubmed/27166823 PubMed 27487210 http://www.ncbi.nlm.nih.gov/pubmed/27487210 RefSeq NP_115635 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115635 SMART SM00320 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00320 STRING 9606.ENSP00000293883 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000293883&targetmode=cogs SUPFAM SSF50978 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50978 UCSC uc002ciz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ciz&org=rat UniGene Hs.459632 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.459632 UniProtKB WDR24_HUMAN http://www.uniprot.org/uniprot/WDR24_HUMAN UniProtKB-AC Q96S15 http://www.uniprot.org/uniprot/Q96S15 charge swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/charge/swissprot:WDR24_HUMAN eggNOG ENOG410XSJ6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSJ6 eggNOG KOG0269 http://eggnogapi.embl.de/nog_data/html/tree/KOG0269 epestfind swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:WDR24_HUMAN garnier swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:WDR24_HUMAN helixturnhelix swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:WDR24_HUMAN hmoment swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:WDR24_HUMAN iep swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/iep/swissprot:WDR24_HUMAN inforesidue swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:WDR24_HUMAN neXtProt NX_Q96S15 http://www.nextprot.org/db/entry/NX_Q96S15 octanol swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:WDR24_HUMAN pepcoil swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:WDR24_HUMAN pepdigest swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:WDR24_HUMAN pepinfo swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:WDR24_HUMAN pepnet swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:WDR24_HUMAN pepstats swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:WDR24_HUMAN pepwheel swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:WDR24_HUMAN pepwindow swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:WDR24_HUMAN sigcleave swissprot:WDR24_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:WDR24_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PIGA_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P37287-1; Sequence=Displayed; Name=2; IsoId=P37287-2; Sequence=VSP_001802; Name=3; IsoId=P37287-3; Sequence=VSP_043366, VSP_043367; Note=No experimental confirmation available.; # AltName PIGA_HUMAN GlcNAc-PI synthesis protein # AltName PIGA_HUMAN Phosphatidylinositol-glycan biosynthesis class A protein # BioGrid 111295 26 # CATALYTIC ACTIVITY PIGA_HUMAN UDP-N-acetyl-D-glucosamine + 1-phosphatidyl- 1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol. # CAZy GT4 Glycosyltransferase Family 4 # CCDS CCDS14165 -. [P37287-1] # CCDS CCDS48086 -. [P37287-3] # DISEASE PIGA_HUMAN Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM 300868] An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy. {ECO 0000269|PubMed 22305531, ECO 0000269|PubMed 24259184, ECO 0000269|PubMed 24259288, ECO 0000269|PubMed 24706016}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE PIGA_HUMAN Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM 300818] A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. {ECO 0000269|PubMed 10087994, ECO 0000269|PubMed 12037021, ECO 0000269|PubMed 8167330, ECO 0000269|PubMed 8306954, ECO 0000269|PubMed 8500164}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. # Ensembl ENST00000333590 ENSP00000369820; ENSG00000165195. [P37287-1] # Ensembl ENST00000482148 ENSP00000489528; ENSG00000165195. [P37287-2] # Ensembl ENST00000542278 ENSP00000442653; ENSG00000165195. [P37287-1] # Ensembl ENST00000634582 ENSP00000489540; ENSG00000165195. [P37287-3] # ExpressionAtlas P37287 baseline and differential # FUNCTION PIGA_HUMAN Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis. # GO_component GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex; IDA:HGNC. # GO_component GO:0005789 endoplasmic reticulum membrane; IDA:HGNC. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0008194 UDP-glycosyltransferase activity; TAS:Reactome. # GO_function GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity; TAS:HGNC. # GO_process GO:0006506 GPI anchor biosynthetic process; TAS:HGNC. # GO_process GO:0009893 positive regulation of metabolic process; TAS:HGNC. # GO_process GO:0016254 preassembly of GPI anchor in ER membrane; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016757 transferase activity, transferring glycosyl groups # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # Genevisible P37287 HS # HGNC HGNC:8957 PIGA # InterPro IPR001296 Glyco_trans_1 # InterPro IPR013234 PIGA_GPI_anchor_biosynthesis # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01003 Glycosyltransferases # KEGG_Disease H01053 [Hematologic disease] Paroxysmal nocturnal hemoglobinuria (PNH) # KEGG_Disease H01486 [Inherited metabolic disease] Multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS) # KEGG_Disease H01489:[Inherited metabolic disease] Hyperphosphatasia with mental retardation syndrome (HPMRS) [DS H01488] # KEGG_Pathway ko00563 Glycosylphosphatidylinositol(GPI)-anchor biosynthesis # MIM 300818 phenotype # MIM 300868 phenotype # MIM 311770 gene # Organism PIGA_HUMAN Homo sapiens (Human) # Orphanet 300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 # Orphanet 3451 West syndrome # Orphanet 397922 Ferro-cerebro-cutaneous syndrome # Orphanet 447 Paroxysmal nocturnal hemoglobinuria # PATHWAY PIGA_HUMAN Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. # PIR A46217 A46217 # Pfam PF00534 Glycos_transf_1 # Pfam PF08288 PIGA # Proteomes UP000005640 Chromosome X # Reactome R-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI) # RecName PIGA_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit A # RefSeq NP_002632 NM_002641.3. [P37287-1] # RefSeq NP_065206 NM_020473.3. [P37287-3] # RefSeq XP_016885070 XM_017029581.1. [P37287-1] # SIMILARITY Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. {ECO 0000305}. # SUBCELLULAR LOCATION PIGA_HUMAN Endoplasmic reticulum membrane; Single-pass membrane protein. # SUBUNIT Associates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity. Interacts directly with PIGY. {ECO:0000269|PubMed 16162815}. # UCSC uc004cwr human. [P37287-1] # WEB RESOURCE PIGA_HUMAN Name=Functional Glycomics Gateway - GTase; Note=Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; URL="http //www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_555"; # eggNOG COG0438 LUCA # eggNOG KOG1111 Eukaryota BLAST swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PIGA_HUMAN BioCyc ZFISH:HS09198-MONOMER http://biocyc.org/getid?id=ZFISH:HS09198-MONOMER COXPRESdb 5277 http://coxpresdb.jp/data/gene/5277.shtml CleanEx HS_PIGA http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PIGA DOI 10.1002/ajmg.a.36184 http://dx.doi.org/10.1002/ajmg.a.36184 DOI 10.1002/ajmg.a.36189 http://dx.doi.org/10.1002/ajmg.a.36189 DOI 10.1006/bcmd.1998.0203 http://dx.doi.org/10.1006/bcmd.1998.0203 DOI 10.1016/0092-8674(93)90250-T http://dx.doi.org/10.1016/0092-8674(93)90250-T DOI 10.1016/j.ajhg.2011.11.031 http://dx.doi.org/10.1016/j.ajhg.2011.11.031 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/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1091/mbc.E05-08-0743 http://dx.doi.org/10.1091/mbc.E05-08-0743 DOI 10.1093/hmg/3.5.751 http://dx.doi.org/10.1093/hmg/3.5.751 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1126/science.7680492 http://dx.doi.org/10.1126/science.7680492 DOI 10.1136/jcp.55.6.410 http://dx.doi.org/10.1136/jcp.55.6.410 DOI 10.1212/WNL.0000000000000389 http://dx.doi.org/10.1212/WNL.0000000000000389 EC_number EC:2.4.1.198 http://www.genome.jp/dbget-bin/www_bget?EC:2.4.1.198 EMBL AC095351 http://www.ebi.ac.uk/ena/data/view/AC095351 EMBL AK303538 http://www.ebi.ac.uk/ena/data/view/AK303538 EMBL BC038236 http://www.ebi.ac.uk/ena/data/view/BC038236 EMBL D11466 http://www.ebi.ac.uk/ena/data/view/D11466 EMBL D28791 http://www.ebi.ac.uk/ena/data/view/D28791 EMBL S61523 http://www.ebi.ac.uk/ena/data/view/S61523 EMBL S74936 http://www.ebi.ac.uk/ena/data/view/S74936 EMBL X77725 http://www.ebi.ac.uk/ena/data/view/X77725 EMBL X77726 http://www.ebi.ac.uk/ena/data/view/X77726 EMBL X77727 http://www.ebi.ac.uk/ena/data/view/X77727 EMBL X77728 http://www.ebi.ac.uk/ena/data/view/X77728 ENZYME 2.4.1.198 http://enzyme.expasy.org/EC/2.4.1.198 Ensembl ENST00000333590 http://www.ensembl.org/id/ENST00000333590 Ensembl ENST00000482148 http://www.ensembl.org/id/ENST00000482148 Ensembl ENST00000542278 http://www.ensembl.org/id/ENST00000542278 Ensembl ENST00000634582 http://www.ensembl.org/id/ENST00000634582 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000506 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_function GO:0008194 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008194 GO_function GO:0017176 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017176 GO_process GO:0006506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006506 GO_process GO:0009893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009893 GO_process GO:0016254 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016254 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:0016757 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016757 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: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 PIGA http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PIGA GeneID 5277 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5277 GeneTree ENSGT00390000014405 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014405 HGNC HGNC:8957 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8957 HOGENOM HOG000203293 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203293&db=HOGENOM6 HOVERGEN HBG008198 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008198&db=HOVERGEN HPA HPA001174 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001174 InParanoid P37287 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P37287 IntEnz 2.4.1.198 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.4.1.198 InterPro IPR001296 http://www.ebi.ac.uk/interpro/entry/IPR001296 InterPro IPR013234 http://www.ebi.ac.uk/interpro/entry/IPR013234 Jabion 5277 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5277 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_Brite ko01003 http://www.genome.jp/dbget-bin/www_bget?ko01003 KEGG_Disease H01053 http://www.genome.jp/dbget-bin/www_bget?H01053 KEGG_Disease H01486 http://www.genome.jp/dbget-bin/www_bget?H01486 KEGG_Disease H01489 http://www.genome.jp/dbget-bin/www_bget?H01489 KEGG_Gene hsa:5277 http://www.genome.jp/dbget-bin/www_bget?hsa:5277 KEGG_Orthology KO:K03857 http://www.genome.jp/dbget-bin/www_bget?KO:K03857 KEGG_Pathway ko00563 http://www.genome.jp/kegg-bin/show_pathway?ko00563 KEGG_Reaction rn:R05916 http://www.genome.jp/dbget-bin/www_bget?rn:R05916 MIM 300818 http://www.ncbi.nlm.nih.gov/omim/300818 MIM 300868 http://www.ncbi.nlm.nih.gov/omim/300868 MIM 311770 http://www.ncbi.nlm.nih.gov/omim/311770 OMA REKYQLH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=REKYQLH Orphanet 300496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=300496 Orphanet 3451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3451 Orphanet 397922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=397922 Orphanet 447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=447 OrthoDB EOG091G060D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G060D PSORT swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PIGA_HUMAN PSORT-B swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PIGA_HUMAN PSORT2 swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PIGA_HUMAN Pfam PF00534 http://pfam.xfam.org/family/PF00534 Pfam PF08288 http://pfam.xfam.org/family/PF08288 PharmGKB PA33288 http://www.pharmgkb.org/do/serve?objId=PA33288&objCls=Gene Phobius swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PIGA_HUMAN PhylomeDB P37287 http://phylomedb.org/?seqid=P37287 ProteinModelPortal P37287 http://www.proteinmodelportal.org/query/uniprot/P37287 PubMed 10087994 http://www.ncbi.nlm.nih.gov/pubmed/10087994 PubMed 12037021 http://www.ncbi.nlm.nih.gov/pubmed/12037021 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 16162815 http://www.ncbi.nlm.nih.gov/pubmed/16162815 PubMed 18691976 http://www.ncbi.nlm.nih.gov/pubmed/18691976 PubMed 22305531 http://www.ncbi.nlm.nih.gov/pubmed/22305531 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24259184 http://www.ncbi.nlm.nih.gov/pubmed/24259184 PubMed 24259288 http://www.ncbi.nlm.nih.gov/pubmed/24259288 PubMed 24706016 http://www.ncbi.nlm.nih.gov/pubmed/24706016 PubMed 7680492 http://www.ncbi.nlm.nih.gov/pubmed/7680492 PubMed 8081230 http://www.ncbi.nlm.nih.gov/pubmed/8081230 PubMed 8081362 http://www.ncbi.nlm.nih.gov/pubmed/8081362 PubMed 8167330 http://www.ncbi.nlm.nih.gov/pubmed/8167330 PubMed 8193350 http://www.ncbi.nlm.nih.gov/pubmed/8193350 PubMed 8306954 http://www.ncbi.nlm.nih.gov/pubmed/8306954 PubMed 8500164 http://www.ncbi.nlm.nih.gov/pubmed/8500164 Reactome R-HSA-162710 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-162710 RefSeq NP_002632 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002632 RefSeq NP_065206 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065206 RefSeq XP_016885070 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016885070 STRING 9606.ENSP00000369820 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000369820&targetmode=cogs UCSC uc004cwr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004cwr&org=rat UniGene Hs.137154 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.137154 UniProtKB PIGA_HUMAN http://www.uniprot.org/uniprot/PIGA_HUMAN UniProtKB-AC P37287 http://www.uniprot.org/uniprot/P37287 charge swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PIGA_HUMAN eggNOG COG0438 http://eggnogapi.embl.de/nog_data/html/tree/COG0438 eggNOG KOG1111 http://eggnogapi.embl.de/nog_data/html/tree/KOG1111 epestfind swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PIGA_HUMAN garnier swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PIGA_HUMAN helixturnhelix swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PIGA_HUMAN hmoment swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PIGA_HUMAN iep swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PIGA_HUMAN inforesidue swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PIGA_HUMAN neXtProt NX_P37287 http://www.nextprot.org/db/entry/NX_P37287 octanol swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PIGA_HUMAN pepcoil swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PIGA_HUMAN pepdigest swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PIGA_HUMAN pepinfo swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PIGA_HUMAN pepnet swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PIGA_HUMAN pepstats swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PIGA_HUMAN pepwheel swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PIGA_HUMAN pepwindow swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PIGA_HUMAN sigcleave swissprot:PIGA_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PIGA_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PCDGE_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y5G2-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5G2-2; Sequence=VSP_008686, VSP_008687; # BioGrid 121043 2 # CCDS CCDS54924 -. [Q9Y5G2-1] # CCDS CCDS75332 -. [Q9Y5G2-2] # Ensembl ENST00000522605 ENSP00000429018; ENSG00000253910. [Q9Y5G2-1] # Ensembl ENST00000622527 ENSP00000481512; ENSG00000253910. [Q9Y5G2-2] # FUNCTION PCDGE_HUMAN Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0005509 calcium ion binding; IEA:InterPro. # GO_process GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007155 cell adhesion # Gene3D 2.60.40.60 -; 6. # Genevisible Q9Y5G2 HS # HGNC HGNC:8709 PCDHGB2 # InterPro IPR002126 Cadherin # InterPro IPR013164 Cadherin_N # InterPro IPR015919 Cadherin-like # InterPro IPR020894 Cadherin_CS # InterPro IPR031904 Cadherin_CBD # InterPro IPR032455 Cadherin_C # KEGG_Brite ko04516 Cell adhesion molecules and their ligands # MIM 604968 gene # MIM 606300 gene # Organism PCDGE_HUMAN Homo sapiens (Human) # PRINTS PR00205 CADHERIN # PROSITE PS00232 CADHERIN_1; 4 # PROSITE PS50268 CADHERIN_2; 6 # Pfam PF00028 Cadherin; 5 # Pfam PF08266 Cadherin_2 # Pfam PF15974 Cadherin_tail # Pfam PF16492 Cadherin_C_2 # Proteomes UP000005640 Chromosome 5 # RecName PCDGE_HUMAN Protocadherin gamma-B2 # RefSeq NP_061746 NM_018923.2. [Q9Y5G2-1] # RefSeq NP_115267 NM_032096.1. [Q9Y5G2-2] # SIMILARITY Contains 6 cadherin domains. {ECO:0000255|PROSITE- ProRule PRU00043}. # SMART SM00112 CA; 6 # SUBCELLULAR LOCATION PCDGE_HUMAN Cell membrane {ECO 0000250}; Single-pass type I membrane protein {ECO 0000250}. # SUPFAM SSF49313 SSF49313; 6 # UCSC uc003ljs human. [Q9Y5G2-1] # eggNOG ENOG410XQHI LUCA # eggNOG KOG3594 Eukaryota BLAST swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PCDGE_HUMAN COXPRESdb 56103 http://coxpresdb.jp/data/gene/56103.shtml DOI 10.1016/S0092-8674(00)80789-8 http://dx.doi.org/10.1016/S0092-8674(00)80789-8 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AF152331 http://www.ebi.ac.uk/ena/data/view/AF152331 EMBL AF152518 http://www.ebi.ac.uk/ena/data/view/AF152518 EMBL BC101805 http://www.ebi.ac.uk/ena/data/view/BC101805 EMBL CH471062 http://www.ebi.ac.uk/ena/data/view/CH471062 Ensembl ENST00000522605 http://www.ensembl.org/id/ENST00000522605 Ensembl ENST00000622527 http://www.ensembl.org/id/ENST00000622527 G-Links 9606 http://link.g-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:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_process GO:0007156 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007156 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 Gene3D 2.60.40.60 http://www.cathdb.info/version/latest/superfamily/2.60.40.60 GeneCards PCDHGB2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PCDHGB2 GeneID 56103 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=56103 GeneTree ENSGT00840000129690 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129690 HGNC HGNC:8709 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8709 HOGENOM HOG000220892 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000220892&db=HOGENOM6 HOVERGEN HBG054878 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054878&db=HOVERGEN HPA HPA008755 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA008755 InParanoid Q9Y5G2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y5G2 InterPro IPR002126 http://www.ebi.ac.uk/interpro/entry/IPR002126 InterPro IPR013164 http://www.ebi.ac.uk/interpro/entry/IPR013164 InterPro IPR015919 http://www.ebi.ac.uk/interpro/entry/IPR015919 InterPro IPR020894 http://www.ebi.ac.uk/interpro/entry/IPR020894 InterPro IPR031904 http://www.ebi.ac.uk/interpro/entry/IPR031904 InterPro IPR032455 http://www.ebi.ac.uk/interpro/entry/IPR032455 Jabion 56103 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=56103 KEGG_Brite ko04516 http://www.genome.jp/dbget-bin/www_bget?ko04516 KEGG_Gene hsa:56103 http://www.genome.jp/dbget-bin/www_bget?hsa:56103 KEGG_Orthology KO:K16496 http://www.genome.jp/dbget-bin/www_bget?KO:K16496 MIM 604968 http://www.ncbi.nlm.nih.gov/omim/604968 MIM 606300 http://www.ncbi.nlm.nih.gov/omim/606300 OMA NTPLFKQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NTPLFKQ OrthoDB EOG091G0229 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0229 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:PCDGE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PCDGE_HUMAN PSORT-B swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PCDGE_HUMAN PSORT2 swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PCDGE_HUMAN Pfam PF00028 http://pfam.xfam.org/family/PF00028 Pfam PF08266 http://pfam.xfam.org/family/PF08266 Pfam PF15974 http://pfam.xfam.org/family/PF15974 Pfam PF16492 http://pfam.xfam.org/family/PF16492 PharmGKB PA33057 http://www.pharmgkb.org/do/serve?objId=PA33057&objCls=Gene Phobius swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PCDGE_HUMAN PhylomeDB Q9Y5G2 http://phylomedb.org/?seqid=Q9Y5G2 ProteinModelPortal Q9Y5G2 http://www.proteinmodelportal.org/query/uniprot/Q9Y5G2 PubMed 10380929 http://www.ncbi.nlm.nih.gov/pubmed/10380929 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_061746 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_061746 RefSeq NP_115267 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115267 SMART SM00112 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00112 SMR Q9Y5G2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y5G2 STRING 9606.ENSP00000429018 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000429018&targetmode=cogs SUPFAM SSF49313 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49313 UCSC uc003ljs http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ljs&org=rat UniGene Hs.368160 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.368160 UniProtKB PCDGE_HUMAN http://www.uniprot.org/uniprot/PCDGE_HUMAN UniProtKB-AC Q9Y5G2 http://www.uniprot.org/uniprot/Q9Y5G2 charge swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PCDGE_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:PCDGE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PCDGE_HUMAN garnier swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PCDGE_HUMAN helixturnhelix swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PCDGE_HUMAN hmoment swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PCDGE_HUMAN iep swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PCDGE_HUMAN inforesidue swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PCDGE_HUMAN neXtProt NX_Q9Y5G2 http://www.nextprot.org/db/entry/NX_Q9Y5G2 octanol swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PCDGE_HUMAN pepcoil swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PCDGE_HUMAN pepdigest swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PCDGE_HUMAN pepinfo swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PCDGE_HUMAN pepnet swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PCDGE_HUMAN pepstats swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PCDGE_HUMAN pepwheel swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PCDGE_HUMAN pepwindow swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PCDGE_HUMAN sigcleave swissprot:PCDGE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PCDGE_HUMAN ## Database ID URL or Descriptions # AltName CND3_HUMAN Chromosome-associated protein G # AltName CND3_HUMAN Condensin subunit CAP-G # AltName CND3_HUMAN Melanoma antigen NY-MEL-3 # AltName CND3_HUMAN Non-SMC condensin I complex subunit G # AltName CND3_HUMAN XCAP-G homolog # BioGrid 122089 53 # ChiTaRS NCAPG human # Ensembl ENST00000251496 ENSP00000251496; ENSG00000109805 # ExpressionAtlas Q9BPX3 baseline and differential # FUNCTION CND3_HUMAN Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. {ECO 0000269|PubMed 11136719}. # GO_component GO:0000796 condensin complex; IDA:UniProtKB. # GO_component GO:0005634 nucleus; NAS:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005813 centrosome; IDA:HPA. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0015629 actin cytoskeleton; IDA:HPA. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_process GO:0007076 mitotic chromosome condensation; IDA:UniProtKB. # GO_process GO:0051301 cell division; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0005829 cytosol # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_process GO:0051276 chromosome organization # GOslim_process GO:0051301 cell division # Gene3D 1.25.10.10 -; 3. # Genevisible Q9BPX3 HS # HGNC HGNC:24304 NCAPG # INTERACTION CND3_HUMAN Q15021 NCAPD2; NbExp=2; IntAct=EBI-970214, EBI-1044041; Q15003 NCAPH; NbExp=3; IntAct=EBI-970214, EBI-1046410; # IntAct Q9BPX3 12 # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # InterPro IPR025977 Cnd3_C # InterPro IPR027165 CND3 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03036 Chromosome # KEGG_Pathway ko04111 Cell cycle - yeast # MIM 606280 gene # MISCELLANEOUS CND3_HUMAN Overexpressed in some cancer lines and some tumor cells. # Organism CND3_HUMAN Homo sapiens (Human) # PANTHER PTHR14418 PTHR14418 # PTM CND3_HUMAN Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPH subunits, activates the condensin complex and is required for chromosome condensation (By similarity). {ECO 0000250}. # Pfam PF12719 Cnd3 # Proteomes UP000005640 Chromosome 4 # Reactome R-HSA-2514853 Condensation of Prometaphase Chromosomes # RecName CND3_HUMAN Condensin complex subunit 3 # RefSeq NP_071741 NM_022346.4 # SEQUENCE CAUTION Sequence=AAH00827.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14429.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAB55165.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; # SIMILARITY Belongs to the CND3 (condensin subunit 3) family. {ECO 0000305}. # SIMILARITY Contains 10 HEAT repeats. {ECO 0000305}. # SUBCELLULAR LOCATION CND3_HUMAN Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase. # SUBUNIT Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: NCAPH/BRRN1, NCAPD2/CAPD2 and NCAPG. {ECO 0000269|PubMed:11136719}. # SUPFAM SSF48371 SSF48371; 2 # TISSUE SPECIFICITY Highly expressed in testis. {ECO:0000269|PubMed 10910072}. # UCSC uc003gpp human # eggNOG COG5218 LUCA # eggNOG KOG2025 Eukaryota BLAST swissprot:CND3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CND3_HUMAN BioCyc ZFISH:ENSG00000109805-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109805-MONOMER COXPRESdb 64151 http://coxpresdb.jp/data/gene/64151.shtml CleanEx HS_CAPG http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CAPG CleanEx HS_NCAPG http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NCAPG DIP DIP-34891N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-34891N 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/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/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.C000873200 http://dx.doi.org/10.1074/jbc.C000873200 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 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AB013299 http://www.ebi.ac.uk/ena/data/view/AB013299 EMBL AF235023 http://www.ebi.ac.uk/ena/data/view/AF235023 EMBL AF331796 http://www.ebi.ac.uk/ena/data/view/AF331796 EMBL AK022512 http://www.ebi.ac.uk/ena/data/view/AK022512 EMBL AK023147 http://www.ebi.ac.uk/ena/data/view/AK023147 EMBL AK027511 http://www.ebi.ac.uk/ena/data/view/AK027511 EMBL BC000827 http://www.ebi.ac.uk/ena/data/view/BC000827 EMBL BC101476 http://www.ebi.ac.uk/ena/data/view/BC101476 Ensembl ENST00000251496 http://www.ensembl.org/id/ENST00000251496 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000796 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000796 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: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: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_process GO:0007076 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007076 GO_process GO:0051301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051301 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: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: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_process GO:0051276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051276 GOslim_process GO:0051301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051301 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards NCAPG http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NCAPG GeneID 64151 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64151 GeneTree ENSGT00390000001577 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000001577 HGNC HGNC:24304 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24304 HOVERGEN HBG039407 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG039407&db=HOVERGEN HPA HPA039613 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039613 HPA HPA040103 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040103 InParanoid Q9BPX3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BPX3 IntAct Q9BPX3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BPX3* InterPro IPR011989 http://www.ebi.ac.uk/interpro/entry/IPR011989 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR025977 http://www.ebi.ac.uk/interpro/entry/IPR025977 InterPro IPR027165 http://www.ebi.ac.uk/interpro/entry/IPR027165 Jabion 64151 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64151 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:64151 http://www.genome.jp/dbget-bin/www_bget?hsa:64151 KEGG_Orthology KO:K06678 http://www.genome.jp/dbget-bin/www_bget?KO:K06678 KEGG_Pathway ko04111 http://www.genome.jp/kegg-bin/show_pathway?ko04111 MIM 606280 http://www.ncbi.nlm.nih.gov/omim/606280 MINT MINT-3060256 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3060256 OMA KCLHIVQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KCLHIVQ OrthoDB EOG091G0K3M http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0K3M PANTHER PTHR14418 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14418 PSORT swissprot:CND3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CND3_HUMAN PSORT-B swissprot:CND3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CND3_HUMAN PSORT2 swissprot:CND3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CND3_HUMAN Pfam PF12719 http://pfam.xfam.org/family/PF12719 PharmGKB PA162397165 http://www.pharmgkb.org/do/serve?objId=PA162397165&objCls=Gene Phobius swissprot:CND3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CND3_HUMAN PhylomeDB Q9BPX3 http://phylomedb.org/?seqid=Q9BPX3 ProteinModelPortal Q9BPX3 http://www.proteinmodelportal.org/query/uniprot/Q9BPX3 PubMed 10910072 http://www.ncbi.nlm.nih.gov/pubmed/10910072 PubMed 11136719 http://www.ncbi.nlm.nih.gov/pubmed/11136719 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 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 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 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 Reactome R-HSA-2514853 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2514853 RefSeq NP_071741 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_071741 STRING 9606.ENSP00000251496 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000251496&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc003gpp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003gpp&org=rat UniGene Hs.567567 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.567567 UniProtKB CND3_HUMAN http://www.uniprot.org/uniprot/CND3_HUMAN UniProtKB-AC Q9BPX3 http://www.uniprot.org/uniprot/Q9BPX3 charge swissprot:CND3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CND3_HUMAN eggNOG COG5218 http://eggnogapi.embl.de/nog_data/html/tree/COG5218 eggNOG KOG2025 http://eggnogapi.embl.de/nog_data/html/tree/KOG2025 epestfind swissprot:CND3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CND3_HUMAN garnier swissprot:CND3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CND3_HUMAN helixturnhelix swissprot:CND3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CND3_HUMAN hmoment swissprot:CND3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CND3_HUMAN iep swissprot:CND3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CND3_HUMAN inforesidue swissprot:CND3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CND3_HUMAN neXtProt NX_Q9BPX3 http://www.nextprot.org/db/entry/NX_Q9BPX3 octanol swissprot:CND3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CND3_HUMAN pepcoil swissprot:CND3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CND3_HUMAN pepdigest swissprot:CND3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CND3_HUMAN pepinfo swissprot:CND3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CND3_HUMAN pepnet swissprot:CND3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CND3_HUMAN pepstats swissprot:CND3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CND3_HUMAN pepwheel swissprot:CND3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CND3_HUMAN pepwindow swissprot:CND3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CND3_HUMAN sigcleave swissprot:CND3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CND3_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 # AltName FBXL3_HUMAN F-box and leucine-rich repeat protein 3A # AltName FBXL3_HUMAN F-box/LRR-repeat protein 3A # BioGrid 117615 15 # ChiTaRS FBXL3 human # Ensembl ENST00000355619 ENSP00000347834; ENSG00000005812 # ExpressionAtlas Q9UKT7 baseline and differential # FUNCTION FBXL3_HUMAN Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation (PubMed 17463251, PubMed 23452855, PubMed 27565346). The SCF(FBXL3) complex mainly acts in the nucleus and mediates ubiquitination and subsequent degradation of CRY1 and CRY2 (PubMed 17463251, PubMed 23452855, PubMed 27565346). Activity of the SCF(FBXL3) complex is counteracted by the SCF(FBXL21) complex (PubMed 23452855). {ECO 0000269|PubMed 17463251, ECO 0000269|PubMed 23452855, ECO 0000269|PubMed 27565346}. # GO_component GO:0000151 ubiquitin ligase complex; NAS:UniProtKB. # GO_component GO:0005634 nucleus; ISS:UniProtKB. # GO_component GO:0005829 cytosol; ISS:UniProtKB. # GO_component GO:0019005 SCF ubiquitin ligase complex; IDA:UniProtKB. # GO_function GO:0004842 ubiquitin-protein transferase activity; NAS:UniProtKB. # GO_process GO:0016567 protein ubiquitination; ISS:UniProtKB. # GO_process GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; IDA:UniProtKB. # GO_process GO:0031648 protein destabilization; ISS:UniProtKB. # GO_process GO:0042752 regulation of circadian rhythm; IMP:UniProtKB. # GO_process GO:0043153 entrainment of circadian clock by photoperiod; ISS:UniProtKB. # GO_process GO:0048511 rhythmic process; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005829 cytosol # GOslim_function GO:0003674 molecular_function # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009056 catabolic process # Gene3D 3.80.10.10 -; 1. # Genevisible Q9UKT7 HS # HGNC HGNC:13599 FBXL3 # IntAct Q9UKT7 4 # InterPro IPR001810 F-box_dom # InterPro IPR032675 L_dom-like # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04121 Ubiquitin system # KEGG_Pathway ko04710 Circadian rhythm # MIM 605653 gene # Organism FBXL3_HUMAN Homo sapiens (Human) # PATHWAY FBXL3_HUMAN Protein modification; protein ubiquitination. # PDB 4I6J X-ray; 2.70 A; B=1-428 # Pfam PF12937 F-box-like # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis # Reactome R-HSA-400253 Circadian Clock # Reactome R-HSA-983168:Antigen processing Ubiquitination & Proteasome degradation # RecName FBXL3_HUMAN F-box/LRR-repeat protein 3 # RefSeq NP_036290 NM_012158.2 # RefSeq XP_005266393 XM_005266336.1 # SIMILARITY Contains 1 F-box domain. {ECO 0000305}. # SIMILARITY Contains 7 LRR (leucine-rich) repeats. {ECO 0000305}. # SMART SM00256 FBOX # SUBCELLULAR LOCATION FBXL3_HUMAN Nucleus {ECO 0000269|PubMed 10531035}. Cytoplasm {ECO 0000269|PubMed 10531035}. Note=Predominantly nuclear. # SUBUNIT Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXL3) composed of CUL1, SKP1, RBX1 and FBXL3. Interacts with CRY1 and CRY2 (phosphorylated). {ECO:0000269|PubMed 17463251}. # SUPFAM SSF81383 SSF81383 # TISSUE SPECIFICITY Widely expressed. {ECO:0000269|PubMed 10531035}. # UCSC uc001vkd human # eggNOG ENOG410IT1T Eukaryota # eggNOG ENOG410XT8H LUCA BLAST swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FBXL3_HUMAN BioCyc ZFISH:ENSG00000005812-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000005812-MONOMER COXPRESdb 26224 http://coxpresdb.jp/data/gene/26224.shtml CleanEx HS_FBXL3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FBXL3 DIP DIP-40770N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-40770N DOI 10.1016/S0960-9822(00)80020-2 http://dx.doi.org/10.1016/S0960-9822(00)80020-2 DOI 10.1016/j.cell.2013.01.055 http://dx.doi.org/10.1016/j.cell.2013.01.055 DOI 10.1016/j.cell.2016.07.027 http://dx.doi.org/10.1016/j.cell.2016.07.027 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.1141194 http://dx.doi.org/10.1126/science.1141194 EMBL AF126028 http://www.ebi.ac.uk/ena/data/view/AF126028 EMBL AF129532 http://www.ebi.ac.uk/ena/data/view/AF129532 EMBL AK314442 http://www.ebi.ac.uk/ena/data/view/AK314442 EMBL BC072448 http://www.ebi.ac.uk/ena/data/view/BC072448 Ensembl ENST00000355619 http://www.ensembl.org/id/ENST00000355619 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0000151 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000151 GO_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GO_component GO:0005829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829 GO_component GO:0019005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019005 GO_function GO:0004842 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004842 GO_process GO:0016567 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016567 GO_process GO:0031146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031146 GO_process GO:0031648 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031648 GO_process GO:0042752 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042752 GO_process GO:0043153 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043153 GO_process GO:0048511 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048511 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_function GO:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 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:0009056 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056 Gene3D 3.80.10.10 http://www.cathdb.info/version/latest/superfamily/3.80.10.10 GeneCards FBXL3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FBXL3 GeneID 26224 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26224 GeneTree ENSGT00390000007432 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000007432 HGNC HGNC:13599 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13599 HOGENOM HOG000060185 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060185&db=HOGENOM6 HOVERGEN HBG051587 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051587&db=HOVERGEN HPA HPA053283 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053283 HPA HPA065626 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA065626 InParanoid Q9UKT7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UKT7 IntAct Q9UKT7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UKT7* InterPro IPR001810 http://www.ebi.ac.uk/interpro/entry/IPR001810 InterPro IPR032675 http://www.ebi.ac.uk/interpro/entry/IPR032675 Jabion 26224 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26224 KEGG_Brite ko00001 http://www.genome.jp/dbget-bin/www_bget?ko00001 KEGG_Brite ko04121 http://www.genome.jp/dbget-bin/www_bget?ko04121 KEGG_Gene hsa:26224 http://www.genome.jp/dbget-bin/www_bget?hsa:26224 KEGG_Orthology KO:K10269 http://www.genome.jp/dbget-bin/www_bget?KO:K10269 KEGG_Pathway ko04710 http://www.genome.jp/kegg-bin/show_pathway?ko04710 MIM 605653 http://www.ncbi.nlm.nih.gov/omim/605653 MINT MINT-108681 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-108681 OMA CRSWNQV http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CRSWNQV OrthoDB EOG091G0R67 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0R67 PDB 4I6J http://www.ebi.ac.uk/pdbe-srv/view/entry/4I6J PDBsum 4I6J http://www.ebi.ac.uk/pdbsum/4I6J PSORT swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FBXL3_HUMAN PSORT-B swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FBXL3_HUMAN PSORT2 swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FBXL3_HUMAN Pfam PF12937 http://pfam.xfam.org/family/PF12937 PharmGKB PA28022 http://www.pharmgkb.org/do/serve?objId=PA28022&objCls=Gene Phobius swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FBXL3_HUMAN PhylomeDB Q9UKT7 http://phylomedb.org/?seqid=Q9UKT7 ProteinModelPortal Q9UKT7 http://www.proteinmodelportal.org/query/uniprot/Q9UKT7 PubMed 10531035 http://www.ncbi.nlm.nih.gov/pubmed/10531035 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17463251 http://www.ncbi.nlm.nih.gov/pubmed/17463251 PubMed 23452855 http://www.ncbi.nlm.nih.gov/pubmed/23452855 PubMed 27565346 http://www.ncbi.nlm.nih.gov/pubmed/27565346 Reactome R-HSA-390471 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-390471 Reactome R-HSA-400253 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-400253 Reactome R-HSA-983168 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-983168 RefSeq NP_036290 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_036290 RefSeq XP_005266393 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005266393 SMART SM00256 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00256 SMR Q9UKT7 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UKT7 STRING 9606.ENSP00000347834 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000347834&targetmode=cogs SUPFAM SSF81383 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF81383 UCSC uc001vkd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001vkd&org=rat UniGene Hs.508284 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.508284 UniProtKB FBXL3_HUMAN http://www.uniprot.org/uniprot/FBXL3_HUMAN UniProtKB-AC Q9UKT7 http://www.uniprot.org/uniprot/Q9UKT7 charge swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FBXL3_HUMAN eggNOG ENOG410IT1T http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IT1T eggNOG ENOG410XT8H http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XT8H epestfind swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FBXL3_HUMAN garnier swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FBXL3_HUMAN helixturnhelix swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FBXL3_HUMAN hmoment swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FBXL3_HUMAN iep swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FBXL3_HUMAN inforesidue swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FBXL3_HUMAN neXtProt NX_Q9UKT7 http://www.nextprot.org/db/entry/NX_Q9UKT7 octanol swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FBXL3_HUMAN pepcoil swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FBXL3_HUMAN pepdigest swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FBXL3_HUMAN pepinfo swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FBXL3_HUMAN pepnet swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FBXL3_HUMAN pepstats swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FBXL3_HUMAN pepwheel swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FBXL3_HUMAN pepwindow swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FBXL3_HUMAN sigcleave swissprot:FBXL3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FBXL3_HUMAN ## Database ID URL or Descriptions # AltName EMC9_HUMAN Protein FAM158A # BioGrid 119223 9 # CDD cd08060 MPN_UPF0172 # Ensembl ENST00000216799 ENSP00000216799; ENSG00000100908 # Ensembl ENST00000419198 ENSP00000403210; ENSG00000100908 # ExpressionAtlas Q9Y3B6 baseline and differential # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0072546 ER membrane protein complex; IDA:UniProtKB. # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0043234 protein complex # Genevisible Q9Y3B6 HS # HGNC HGNC:20273 EMC9 # INTERACTION EMC9_HUMAN Q15006 EMC2; NbExp=6; IntAct=EBI-748366, EBI-359031; # InterPro IPR005366 EMC8/9 # Organism EMC9_HUMAN Homo sapiens (Human) # PANTHER PTHR12941 PTHR12941 # Pfam PF03665 UPF0172 # Proteomes UP000005640 Chromosome 14 # RecName EMC9_HUMAN ER membrane protein complex subunit 9 # RefSeq NP_057133 NM_016049.3 # RefSeq XP_005267778 XM_005267721.4 # SIMILARITY Belongs to the EMC8/EMC9 family. {ECO 0000305}. # SUBCELLULAR LOCATION EMC9_HUMAN Cytoplasm {ECO 0000269|PubMed 22119785}. # SUBUNIT Component of the ER membrane protein complex (EMC). {ECO:0000269|PubMed 22119785}. # UCSC uc001wmi human # eggNOG ENOG410Y8KS LUCA # eggNOG KOG3289 Eukaryota BLAST swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:EMC9_HUMAN BioCyc ZFISH:ENSG00000100908-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000100908-MONOMER COXPRESdb 51016 http://coxpresdb.jp/data/gene/51016.shtml CleanEx HS_FAM158A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FAM158A DOI 10.1038/ncb2383 http://dx.doi.org/10.1038/ncb2383 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 EMBL AF151870 http://www.ebi.ac.uk/ena/data/view/AF151870 EMBL BC002491 http://www.ebi.ac.uk/ena/data/view/BC002491 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 Ensembl ENST00000216799 http://www.ensembl.org/id/ENST00000216799 Ensembl ENST00000419198 http://www.ensembl.org/id/ENST00000419198 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:0072546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072546 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 GeneCards EMC9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=EMC9 GeneID 51016 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51016 GeneTree ENSGT00390000006738 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006738 H-InvDB HIX0202078 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0202078 HGNC HGNC:20273 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20273 HOGENOM HOG000006797 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006797&db=HOGENOM6 HOVERGEN HBG018182 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018182&db=HOVERGEN HPA HPA054715 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA054715 InParanoid Q9Y3B6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y3B6 IntAct Q9Y3B6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y3B6* InterPro IPR005366 http://www.ebi.ac.uk/interpro/entry/IPR005366 Jabion 51016 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51016 KEGG_Gene hsa:51016 http://www.genome.jp/dbget-bin/www_bget?hsa:51016 OMA VTDCVPL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VTDCVPL OrthoDB EOG091G0NV8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0NV8 PANTHER PTHR12941 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12941 PSORT swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:EMC9_HUMAN PSORT-B swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:EMC9_HUMAN PSORT2 swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:EMC9_HUMAN Pfam PF03665 http://pfam.xfam.org/family/PF03665 PharmGKB PA162386700 http://www.pharmgkb.org/do/serve?objId=PA162386700&objCls=Gene Phobius swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:EMC9_HUMAN PhylomeDB Q9Y3B6 http://phylomedb.org/?seqid=Q9Y3B6 ProteinModelPortal Q9Y3B6 http://www.proteinmodelportal.org/query/uniprot/Q9Y3B6 PubMed 10810093 http://www.ncbi.nlm.nih.gov/pubmed/10810093 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 22119785 http://www.ncbi.nlm.nih.gov/pubmed/22119785 RefSeq NP_057133 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057133 RefSeq XP_005267778 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005267778 SMR Q9Y3B6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y3B6 STRING 9606.ENSP00000216799 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000216799&targetmode=cogs UCSC uc001wmi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wmi&org=rat UniGene Hs.271614 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.271614 UniProtKB EMC9_HUMAN http://www.uniprot.org/uniprot/EMC9_HUMAN UniProtKB-AC Q9Y3B6 http://www.uniprot.org/uniprot/Q9Y3B6 charge swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:EMC9_HUMAN eggNOG ENOG410Y8KS http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y8KS eggNOG KOG3289 http://eggnogapi.embl.de/nog_data/html/tree/KOG3289 epestfind swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:EMC9_HUMAN garnier swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:EMC9_HUMAN helixturnhelix swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:EMC9_HUMAN hmoment swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:EMC9_HUMAN iep swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:EMC9_HUMAN inforesidue swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:EMC9_HUMAN neXtProt NX_Q9Y3B6 http://www.nextprot.org/db/entry/NX_Q9Y3B6 octanol swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:EMC9_HUMAN pepcoil swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:EMC9_HUMAN pepdigest swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:EMC9_HUMAN pepinfo swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:EMC9_HUMAN pepnet swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:EMC9_HUMAN pepstats swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:EMC9_HUMAN pepwheel swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:EMC9_HUMAN pepwindow swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:EMC9_HUMAN sigcleave swissprot:EMC9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:EMC9_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000334664 ENSP00000335503; ENSG00000244624 # FUNCTION KR201_HUMAN In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins. # GO_component GO:0005882 intermediate filament; IEA:UniProtKB-KW. # GOslim_component GO:0005575 cellular_component # HGNC HGNC:18943 KRTAP20-1 # InterPro IPR021743 KRTAP_type6/8/16/19/20/21 # Organism KR201_HUMAN Homo sapiens (Human) # Pfam PF11759 KRTAP # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-6805567 Keratinization # RecName KR201_HUMAN Keratin-associated protein 20-1 # RefSeq NP_853646 NM_181615.1 # SIMILARITY Belongs to the KRTAP type 20 family. {ECO 0000305}. # SUBUNIT Interacts with hair keratins. {ECO 0000250}. # UCSC uc011ade human BLAST swissprot:KR201_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KR201_HUMAN BioCyc ZFISH:G66-33571-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33571-MONOMER COXPRESdb 337975 http://coxpresdb.jp/data/gene/337975.shtml CleanEx HS_KRTAP20-1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KRTAP20-1 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 AB096955 http://www.ebi.ac.uk/ena/data/view/AB096955 EMBL BC104846 http://www.ebi.ac.uk/ena/data/view/BC104846 EMBL BC104872 http://www.ebi.ac.uk/ena/data/view/BC104872 Ensembl ENST00000334664 http://www.ensembl.org/id/ENST00000334664 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005882 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005882 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GeneCards KRTAP20-1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KRTAP20-1 GeneID 337975 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=337975 GeneTree ENSGT00730000112874 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000112874 HGNC HGNC:18943 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18943 HOGENOM HOG000113247 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113247&db=HOGENOM6 HPA CAB033048 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033048 InParanoid Q3LI63 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q3LI63 InterPro IPR021743 http://www.ebi.ac.uk/interpro/entry/IPR021743 Jabion 337975 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=337975 KEGG_Gene hsa:337975 http://www.genome.jp/dbget-bin/www_bget?hsa:337975 OMA GYRGYGC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GYRGYGC PSORT swissprot:KR201_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KR201_HUMAN PSORT-B swissprot:KR201_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KR201_HUMAN PSORT2 swissprot:KR201_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KR201_HUMAN Pfam PF11759 http://pfam.xfam.org/family/PF11759 PharmGKB PA134953935 http://www.pharmgkb.org/do/serve?objId=PA134953935&objCls=Gene Phobius swissprot:KR201_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KR201_HUMAN ProteinModelPortal Q3LI63 http://www.proteinmodelportal.org/query/uniprot/Q3LI63 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16959974 http://www.ncbi.nlm.nih.gov/pubmed/16959974 Reactome R-HSA-6805567 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6805567 RefSeq NP_853646 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_853646 STRING 9606.ENSP00000335503 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000335503&targetmode=cogs UCSC uc011ade http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc011ade&org=rat UniGene Hs.553697 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.553697 UniProtKB KR201_HUMAN http://www.uniprot.org/uniprot/KR201_HUMAN UniProtKB-AC Q3LI63 http://www.uniprot.org/uniprot/Q3LI63 charge swissprot:KR201_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KR201_HUMAN epestfind swissprot:KR201_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KR201_HUMAN garnier swissprot:KR201_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KR201_HUMAN helixturnhelix swissprot:KR201_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KR201_HUMAN hmoment swissprot:KR201_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KR201_HUMAN iep swissprot:KR201_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KR201_HUMAN inforesidue swissprot:KR201_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KR201_HUMAN neXtProt NX_Q3LI63 http://www.nextprot.org/db/entry/NX_Q3LI63 octanol swissprot:KR201_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KR201_HUMAN pepcoil swissprot:KR201_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KR201_HUMAN pepdigest swissprot:KR201_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KR201_HUMAN pepinfo swissprot:KR201_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KR201_HUMAN pepnet swissprot:KR201_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KR201_HUMAN pepstats swissprot:KR201_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KR201_HUMAN pepwheel swissprot:KR201_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KR201_HUMAN pepwindow swissprot:KR201_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KR201_HUMAN sigcleave swissprot:KR201_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KR201_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NEK4_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51957-1; Sequence=Displayed; Name=2; IsoId=P51957-2; Sequence=VSP_037123, VSP_037124; Note=No experimental confirmation available.; Name=3; IsoId=P51957-3; Sequence=VSP_043334; Note=No experimental confirmation available.; # AltName NEK4_HUMAN Never in mitosis A-related kinase 4 # AltName NEK4_HUMAN Serine/threonine-protein kinase 2 # AltName NEK4_HUMAN Serine/threonine-protein kinase NRK2 # BioGrid 112663 27 # CATALYTIC ACTIVITY ATP + a protein = ADP + a phosphoprotein. {ECO:0000250|UniProtKB Q9Z1J2}. # CCDS CCDS2863 -. [P51957-1] # CCDS CCDS54593 -. [P51957-3] # COFACTOR NEK4_HUMAN Name=Mn(2+); Xref=ChEBI CHEBI 29035; Evidence={ECO 0000250|UniProtKB Q9Z1J2}; # ChiTaRS NEK4 human # Ensembl ENST00000233027 ENSP00000233027; ENSG00000114904. [P51957-1] # Ensembl ENST00000383721 ENSP00000373227; ENSG00000114904. [P51957-2] # Ensembl ENST00000535191 ENSP00000437703; ENSG00000114904. [P51957-3] # ExpressionAtlas P51957 baseline and differential # FUNCTION NEK4_HUMAN Protein kinase that seems to act exclusively upon threonine residues (By similarity). Required for normal entry into proliferative arrest after a limited number of cell divisions, also called replicative senescence. Required for normal cell cycle arrest in response to double-stranded DNA damage. {ECO 0000250|UniProtKB Q9Z1J2, ECO 0000269|PubMed 22851694}. # GO_component GO:0005737 cytoplasm; ISS:UniProtKB. # GO_component GO:0005929 cilium; IEA:UniProtKB-SubCell. # GO_function GO:0004674 protein serine/threonine kinase activity; ISS:UniProtKB. # GO_function GO:0004702 receptor signaling protein serine/threonine kinase activity; IBA:GO_Central. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0030145 manganese ion binding; ISS:UniProtKB. # GO_process GO:0000278 mitotic cell cycle; IMP:UniProtKB. # GO_process GO:0006468 protein phosphorylation; ISS:UniProtKB. # GO_process GO:0006974 cellular response to DNA damage stimulus; IMP:UniProtKB. # GO_process GO:0007067 mitotic nuclear division; IEA:UniProtKB-KW. # GO_process GO:0045893 positive regulation of transcription, DNA-templated; IMP:CACAO. # GO_process GO:0051301 cell division; IEA:UniProtKB-KW. # GO_process GO:1900062 regulation of replicative cell aging; IMP:UniProtKB. # GO_process GO:2000772 regulation of cellular senescence; IMP:UniProtKB. # GO_process GO:2001020 regulation of response to DNA damage stimulus; IMP:CACAO. # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005929 cilium # GOslim_function GO:0004871 signal transducer activity # GOslim_function GO:0016301 kinase activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007049 cell cycle # GOslim_process GO:0007067 mitotic nuclear division # GOslim_process GO:0008150 biological_process # GOslim_process GO:0051301 cell division # Genevisible P51957 HS # HGNC HGNC:11399 NEK4 # IntAct P51957 10 # InterPro IPR000719 Prot_kinase_dom # InterPro IPR008271 Ser/Thr_kinase_AS # InterPro IPR011009 Kinase-like_dom # InterPro IPR017441 Protein_kinase_ATP_BS # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01001 Protein kinases # KEGG_Brite ko03036 Chromosome # MIM 601959 gene # Organism NEK4_HUMAN Homo sapiens (Human) # PIR I78885 I78885 # PROSITE PS00107 PROTEIN_KINASE_ATP # PROSITE PS00108 PROTEIN_KINASE_ST # PROSITE PS50011 PROTEIN_KINASE_DOM # Pfam PF00069 Pkinase # Proteomes UP000005640 Chromosome 3 # RecName NEK4_HUMAN Serine/threonine-protein kinase Nek4 # RefSeq NP_001180462 NM_001193533.1. [P51957-3] # RefSeq NP_003148 NM_003157.4. [P51957-1] # SIMILARITY Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. {ECO 0000305}. # SIMILARITY Contains 1 protein kinase domain. {ECO:0000255|PROSITE-ProRule PRU00159}. # SMART SM00220 S_TKc # SUBCELLULAR LOCATION NEK4_HUMAN Cell projection, cilium {ECO 0000269|PubMed 21685204}. Cytoplasm {ECO 0000269|PubMed 21685204}. # SUBUNIT Interacts with RPGRIP1 and RPGRIP1L. {ECO:0000269|PubMed 21685204}. # SUPFAM SSF56112 SSF56112 # TISSUE SPECIFICITY NEK4_HUMAN Highest expression in adult heart, followed by pancreas, skeletal muscle, brain, testis, retina, liver, kidney, lung and placenta. Present in most primary carcinomas. {ECO 0000269|PubMed 21685204, ECO 0000269|PubMed 8208544}. # UCSC uc003dfq human. [P51957-1] # eggNOG ENOG410Y7JF LUCA # eggNOG KOG0589 Eukaryota BLAST swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NEK4_HUMAN BioCyc ZFISH:HS03815-MONOMER http://biocyc.org/getid?id=ZFISH:HS03815-MONOMER COXPRESdb 6787 http://coxpresdb.jp/data/gene/6787.shtml CleanEx HS_NEK4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NEK4 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/nature05610 http://dx.doi.org/10.1038/nature05610 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 10.1093/hmg/ddr280 http://dx.doi.org/10.1093/hmg/ddr280 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 10.1128/MCB.00436-12 http://dx.doi.org/10.1128/MCB.00436-12 EC_number EC:2.7.11.1 {ECO:0000250|UniProtKB:Q9Z1J2} http://www.genome.jp/dbget-bin/www_bget?EC:2.7.11.1 {ECO:0000250|UniProtKB:Q9Z1J2} EMBL AC006254 http://www.ebi.ac.uk/ena/data/view/AC006254 EMBL AC104446 http://www.ebi.ac.uk/ena/data/view/AC104446 EMBL AK294165 http://www.ebi.ac.uk/ena/data/view/AK294165 EMBL AK312420 http://www.ebi.ac.uk/ena/data/view/AK312420 EMBL BC063044 http://www.ebi.ac.uk/ena/data/view/BC063044 EMBL EF560744 http://www.ebi.ac.uk/ena/data/view/EF560744 EMBL L20321 http://www.ebi.ac.uk/ena/data/view/L20321 ENZYME 2.7.11.1 {ECO:0000250|UniProtKB:Q9Z1J2} http://enzyme.expasy.org/EC/2.7.11.1 {ECO:0000250|UniProtKB:Q9Z1J2} Ensembl ENST00000233027 http://www.ensembl.org/id/ENST00000233027 Ensembl ENST00000383721 http://www.ensembl.org/id/ENST00000383721 Ensembl ENST00000535191 http://www.ensembl.org/id/ENST00000535191 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:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 GO_function GO:0004674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004674 GO_function GO:0004702 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004702 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0030145 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030145 GO_process GO:0000278 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000278 GO_process GO:0006468 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006468 GO_process GO:0006974 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006974 GO_process GO:0007067 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007067 GO_process GO:0045893 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045893 GO_process GO:0051301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051301 GO_process GO:1900062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900062 GO_process GO:2000772 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000772 GO_process GO:2001020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001020 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GOslim_component GO:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 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: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:0006950 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950 GOslim_process GO:0007049 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007049 GOslim_process GO:0007067 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007067 GOslim_process GO:0008150 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150 GOslim_process GO:0051301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051301 GeneCards NEK4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NEK4 GeneID 6787 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6787 GeneTree ENSGT00760000118997 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118997 H-InvDB HIX0030800 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0030800 HGNC HGNC:11399 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11399 HOGENOM HOG000294177 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000294177&db=HOGENOM6 HOVERGEN HBG031740 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG031740&db=HOVERGEN HPA HPA015750 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015750 InParanoid P51957 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P51957 IntAct P51957 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P51957* IntEnz 2.7.11.1 {ECO:0000250|UniProtKB:Q9Z1J2} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.7.11.1 {ECO:0000250|UniProtKB:Q9Z1J2} InterPro IPR000719 http://www.ebi.ac.uk/interpro/entry/IPR000719 InterPro IPR008271 http://www.ebi.ac.uk/interpro/entry/IPR008271 InterPro IPR011009 http://www.ebi.ac.uk/interpro/entry/IPR011009 InterPro IPR017441 http://www.ebi.ac.uk/interpro/entry/IPR017441 Jabion 6787 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6787 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 ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:6787 http://www.genome.jp/dbget-bin/www_bget?hsa:6787 KEGG_Orthology KO:K08857 http://www.genome.jp/dbget-bin/www_bget?KO:K08857 MIM 601959 http://www.ncbi.nlm.nih.gov/omim/601959 OMA SELESCW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SELESCW OrthoDB EOG091G0GU4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GU4 PROSITE PS00107 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00107 PROSITE PS00108 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00108 PROSITE PS50011 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50011 PSORT swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NEK4_HUMAN PSORT-B swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NEK4_HUMAN PSORT2 swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NEK4_HUMAN Pfam PF00069 http://pfam.xfam.org/family/PF00069 PharmGKB PA31548 http://www.pharmgkb.org/do/serve?objId=PA31548&objCls=Gene Phobius swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NEK4_HUMAN PhylomeDB P51957 http://phylomedb.org/?seqid=P51957 ProteinModelPortal P51957 http://www.proteinmodelportal.org/query/uniprot/P51957 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 17344846 http://www.ncbi.nlm.nih.gov/pubmed/17344846 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21685204 http://www.ncbi.nlm.nih.gov/pubmed/21685204 PubMed 22851694 http://www.ncbi.nlm.nih.gov/pubmed/22851694 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24129315 http://www.ncbi.nlm.nih.gov/pubmed/24129315 PubMed 8208544 http://www.ncbi.nlm.nih.gov/pubmed/8208544 RefSeq NP_001180462 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180462 RefSeq NP_003148 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003148 SMART SM00220 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00220 SMR P51957 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P51957 STRING 9606.ENSP00000233027 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000233027&targetmode=cogs SUPFAM SSF56112 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56112 UCSC uc003dfq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003dfq&org=rat UniGene Hs.631921 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.631921 UniProtKB NEK4_HUMAN http://www.uniprot.org/uniprot/NEK4_HUMAN UniProtKB-AC P51957 http://www.uniprot.org/uniprot/P51957 charge swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NEK4_HUMAN eggNOG ENOG410Y7JF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y7JF eggNOG KOG0589 http://eggnogapi.embl.de/nog_data/html/tree/KOG0589 epestfind swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NEK4_HUMAN garnier swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NEK4_HUMAN helixturnhelix swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NEK4_HUMAN hmoment swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NEK4_HUMAN iep swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NEK4_HUMAN inforesidue swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NEK4_HUMAN neXtProt NX_P51957 http://www.nextprot.org/db/entry/NX_P51957 octanol swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NEK4_HUMAN pepcoil swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NEK4_HUMAN pepdigest swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NEK4_HUMAN pepinfo swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NEK4_HUMAN pepnet swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NEK4_HUMAN pepstats swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NEK4_HUMAN pepwheel swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NEK4_HUMAN pepwindow swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NEK4_HUMAN sigcleave swissprot:NEK4_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NEK4_HUMAN ## Database ID URL or Descriptions # AltName S10A7_HUMAN Psoriasin # AltName S10A7_HUMAN S100 calcium-binding protein A7 # BioGrid 112186 45 # Ensembl ENST00000368722 ENSP00000357711; ENSG00000143556 # Ensembl ENST00000368723 ENSP00000357712; ENSG00000143556 # GO_component GO:0005576 extracellular region; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005783 endoplasmic reticulum; IDA:UniProtKB. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0005925 focal adhesion; NAS:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005509 calcium ion binding; IDA:UniProtKB. # GO_function GO:0008270 zinc ion binding; NAS:UniProtKB. # GO_function GO:0050786 RAGE receptor binding; IPI:UniProtKB. # GO_process GO:0000302 response to reactive oxygen species; IDA:UniProtKB. # GO_process GO:0001525 angiogenesis; NAS:UniProtKB. # GO_process GO:0008544 epidermis development; TAS:ProtInc. # GO_process GO:0010820 positive regulation of T cell chemotaxis; IDA:UniProtKB. # GO_process GO:0030216 keratinocyte differentiation; NAS:UniProtKB. # GO_process GO:0032496 response to lipopolysaccharide; IEP:UniProtKB. # GO_process GO:0045087 innate immune response; NAS:UniProtKB. # GO_process GO:0050829 defense response to Gram-negative bacterium; IMP:UniProtKB. # GO_process GO:0051238 sequestering of metal ion; IDA:UniProtKB. # GO_process GO:0070374 positive regulation of ERK1 and ERK2 cascade; IDA:UniProtKB. # GO_process GO:0071624 positive regulation of granulocyte chemotaxis; IDA:UniProtKB. # GO_process GO:0090026 positive regulation of monocyte chemotaxis; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005783 endoplasmic reticulum # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # Gene3D 1.10.238.10 -; 1. # Genevisible P31151 HS # HGNC HGNC:10497 S100A7 # INTERACTION S10A7_HUMAN Q96S59 RANBP9; NbExp=3; IntAct=EBI-357520, EBI-636085; # IntAct P31151 20 # 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 # InterPro IPR028477 S100A7 # MASS SPECTROMETRY Mass=11365; Mass_error=0.7; Method=Electrospray; Range=2-101; Evidence={ECO:0000269|PubMed 8526920}; # MIM 600353 gene # Organism S10A7_HUMAN Homo sapiens (Human) # PANTHER PTHR11639:SF64 PTHR11639:SF64 # PDB 1PSR X-ray; 1.05 A; A/B=2-101 # PDB 2PSR X-ray; 2.05 A; A=2-101 # PDB 2WND X-ray; 1.60 A; A=2-97 # PDB 2WOR X-ray; 1.70 A; A=2-101 # PDB 2WOS X-ray; 1.70 A; A=2-101 # PDB 3PSR X-ray; 2.50 A; A/B=2-101 # PDB 4AQJ X-ray; 1.60 A; A=1-101 # PIR A54327 A54327 # PROSITE PS00018 EF_HAND_1 # PROSITE PS00303 S100_CABP # PROSITE PS50222 EF_HAND_2 # Pfam PF01023 S_100 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-6798695 Neutrophil degranulation # Reactome R-HSA-6799990 Metal sequestration by antimicrobial proteins # RecName S10A7_HUMAN Protein S100-A7 # RefSeq NP_002954 NM_002963.3 # SIMILARITY Belongs to the S-100 family. {ECO 0000305}. # SIMILARITY Contains 2 EF-hand domains. {ECO:0000255|PROSITE- ProRule PRU00448}. # SMART SM01394 S_100 # SUBCELLULAR LOCATION S10A7_HUMAN Cytoplasm {ECO 0000269|PubMed 8618345}. Secreted {ECO 0000269|PubMed 8618345}. Note=Secreted by a non- classical secretory pathway. # SUBUNIT Interacts with RANBP9. {ECO:0000269|PubMed 12421467}. # SUPFAM SSF47473 SSF47473 # TISSUE SPECIFICITY Fetal ear, skin, and tongue and human cell lines. Highly up-regulated in psoriatic epidermis. Also highly expressed in the urine of bladder squamous cell carcinoma (SCC) bearing patients. {ECO:0000269|PubMed 8618345}. # UCSC uc001fbv human # WEB RESOURCE S10A7_HUMAN Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/S100A7ID42194ch1q21.html"; # eggNOG ENOG410JEQ8 Eukaryota # eggNOG ENOG41114XT LUCA BLAST swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:S10A7_HUMAN BioCyc ZFISH:ENSG00000143556-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143556-MONOMER COXPRESdb 6278 http://coxpresdb.jp/data/gene/6278.shtml CleanEx HS_S100A7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_S100A7 DOI 10.1002/elps.11501301199 http://dx.doi.org/10.1002/elps.11501301199 DOI 10.1006/bbrc.1995.2772 http://dx.doi.org/10.1006/bbrc.1995.2772 DOI 10.1007/s00239-002-2410-5 http://dx.doi.org/10.1007/s00239-002-2410-5 DOI 10.1016/S0022-5347(01)66118-4 http://dx.doi.org/10.1016/S0022-5347(01)66118-4 DOI 10.1016/S0969-2126(98)00049-5 http://dx.doi.org/10.1016/S0969-2126(98)00049-5 DOI 10.1021/bi982483d http://dx.doi.org/10.1021/bi982483d 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 10.1111/1523-1747.ep12484041 http://dx.doi.org/10.1111/1523-1747.ep12484041 DOI 10.1186/1471-2407-2-28 http://dx.doi.org/10.1186/1471-2407-2-28 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AJ012825 http://www.ebi.ac.uk/ena/data/view/AJ012825 EMBL AL591704 http://www.ebi.ac.uk/ena/data/view/AL591704 EMBL BC034687 http://www.ebi.ac.uk/ena/data/view/BC034687 EMBL BR000043 http://www.ebi.ac.uk/ena/data/view/BR000043 EMBL CR542164 http://www.ebi.ac.uk/ena/data/view/CR542164 EMBL M86757 http://www.ebi.ac.uk/ena/data/view/M86757 Ensembl ENST00000368722 http://www.ensembl.org/id/ENST00000368722 Ensembl ENST00000368723 http://www.ensembl.org/id/ENST00000368723 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: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:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 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:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0050786 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050786 GO_process GO:0000302 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000302 GO_process GO:0001525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001525 GO_process GO:0008544 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008544 GO_process GO:0010820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010820 GO_process GO:0030216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030216 GO_process GO:0032496 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032496 GO_process GO:0045087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045087 GO_process GO:0050829 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050829 GO_process GO:0051238 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051238 GO_process GO:0070374 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070374 GO_process GO:0071624 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071624 GO_process GO:0090026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090026 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: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: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: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: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: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 1.10.238.10 http://www.cathdb.info/version/latest/superfamily/1.10.238.10 GeneCards S100A7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=S100A7 GeneID 6278 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6278 GeneTree ENSGT00390000017320 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017320 H-InvDB HIX0200006 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0200006 HGNC HGNC:10497 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10497 HOGENOM HOG000154231 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154231&db=HOGENOM6 HOVERGEN HBG095357 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG095357&db=HOVERGEN HPA CAB001453 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB001453 HPA CAB033766 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB033766 HPA HPA006997 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA006997 InParanoid P31151 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P31151 IntAct P31151 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P31151* 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 InterPro IPR028477 http://www.ebi.ac.uk/interpro/entry/IPR028477 Jabion 6278 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6278 KEGG_Gene hsa:6278 http://www.genome.jp/dbget-bin/www_bget?hsa:6278 MIM 600353 http://www.ncbi.nlm.nih.gov/omim/600353 MINT MINT-1156620 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1156620 OMA SHGAPAC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SHGAPAC OrthoDB EOG091G0Y5T http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0Y5T PANTHER PTHR11639:SF64 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11639:SF64 PDB 1PSR http://www.ebi.ac.uk/pdbe-srv/view/entry/1PSR PDB 2PSR http://www.ebi.ac.uk/pdbe-srv/view/entry/2PSR PDB 2WND http://www.ebi.ac.uk/pdbe-srv/view/entry/2WND PDB 2WOR http://www.ebi.ac.uk/pdbe-srv/view/entry/2WOR PDB 2WOS http://www.ebi.ac.uk/pdbe-srv/view/entry/2WOS PDB 3PSR http://www.ebi.ac.uk/pdbe-srv/view/entry/3PSR PDB 4AQJ http://www.ebi.ac.uk/pdbe-srv/view/entry/4AQJ PDBsum 1PSR http://www.ebi.ac.uk/pdbsum/1PSR PDBsum 2PSR http://www.ebi.ac.uk/pdbsum/2PSR PDBsum 2WND http://www.ebi.ac.uk/pdbsum/2WND PDBsum 2WOR http://www.ebi.ac.uk/pdbsum/2WOR PDBsum 2WOS http://www.ebi.ac.uk/pdbsum/2WOS PDBsum 3PSR http://www.ebi.ac.uk/pdbsum/3PSR PDBsum 4AQJ http://www.ebi.ac.uk/pdbsum/4AQJ 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:S10A7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:S10A7_HUMAN PSORT-B swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:S10A7_HUMAN PSORT2 swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:S10A7_HUMAN Pfam PF01023 http://pfam.xfam.org/family/PF01023 PharmGKB PA34909 http://www.pharmgkb.org/do/serve?objId=PA34909&objCls=Gene Phobius swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:S10A7_HUMAN PhylomeDB P31151 http://phylomedb.org/?seqid=P31151 ProteinModelPortal P31151 http://www.proteinmodelportal.org/query/uniprot/P31151 PubMed 10026247 http://www.ncbi.nlm.nih.gov/pubmed/10026247 PubMed 12421467 http://www.ncbi.nlm.nih.gov/pubmed/12421467 PubMed 12664160 http://www.ncbi.nlm.nih.gov/pubmed/12664160 PubMed 1286667 http://www.ncbi.nlm.nih.gov/pubmed/1286667 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 1940442 http://www.ncbi.nlm.nih.gov/pubmed/1940442 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 8526920 http://www.ncbi.nlm.nih.gov/pubmed/8526920 PubMed 8618345 http://www.ncbi.nlm.nih.gov/pubmed/8618345 PubMed 9562557 http://www.ncbi.nlm.nih.gov/pubmed/9562557 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 Reactome R-HSA-6799990 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6799990 RefSeq NP_002954 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002954 SMART SM01394 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01394 SMR P31151 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P31151 STRING 9606.ENSP00000357711 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357711&targetmode=cogs SUPFAM SSF47473 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47473 UCSC uc001fbv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fbv&org=rat UniGene Hs.112408 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.112408 UniProtKB S10A7_HUMAN http://www.uniprot.org/uniprot/S10A7_HUMAN UniProtKB-AC P31151 http://www.uniprot.org/uniprot/P31151 charge swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:S10A7_HUMAN eggNOG ENOG410JEQ8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410JEQ8 eggNOG ENOG41114XT http://eggnogapi.embl.de/nog_data/html/tree/ENOG41114XT epestfind swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:S10A7_HUMAN garnier swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:S10A7_HUMAN helixturnhelix swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:S10A7_HUMAN hmoment swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:S10A7_HUMAN iep swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:S10A7_HUMAN inforesidue swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:S10A7_HUMAN neXtProt NX_P31151 http://www.nextprot.org/db/entry/NX_P31151 octanol swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:S10A7_HUMAN pepcoil swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:S10A7_HUMAN pepdigest swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:S10A7_HUMAN pepinfo swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:S10A7_HUMAN pepnet swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:S10A7_HUMAN pepstats swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:S10A7_HUMAN pepwheel swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:S10A7_HUMAN pepwindow swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:S10A7_HUMAN sigcleave swissprot:S10A7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:S10A7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS BPIA1_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP55-1; Sequence=Displayed; Name=2; IsoId=Q9NP55-2; Sequence=VSP_057345; Note=No experimental confirmation available.; # AltName BPIA1_HUMAN Lung-specific protein X # AltName BPIA1_HUMAN Nasopharyngeal carcinoma-related protein # AltName BPIA1_HUMAN Palate lung and nasal epithelium clone protein # AltName BPIA1_HUMAN Secretory protein in upper respiratory tracts # AltName BPIA1_HUMAN Short PLUNC1 # AltName BPIA1_HUMAN Tracheal epithelium-enriched protein # AltName BPIA1_HUMAN Von Ebner protein Hl # BioGrid 119448 13 # CCDS CCDS13217 -. [Q9NP55-1] # ChiTaRS BPIFA1 human # Ensembl ENST00000354297 ENSP00000346251; ENSG00000198183. [Q9NP55-1] # Ensembl ENST00000375413 ENSP00000364562; ENSG00000198183. [Q9NP55-1] # Ensembl ENST00000375422 ENSP00000364571; ENSG00000198183. [Q9NP55-1] # Ensembl ENST00000618484 ENSP00000482297; ENSG00000198183. [Q9NP55-2] # FUNCTION BPIA1_HUMAN Plays a role in the innate immune responses of the upper airways. Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae. Binds bacterial lipopolysaccharide (LPS). Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid homeostasis and proper clearance of mucus. Plays a role in the airway inflammatory response after exposure to irritants. May attract macrophages and neutrophils. May be associated with tumor progression. {ECO 0000269|PubMed 11425234, ECO 0000269|PubMed 23132494, ECO 0000269|PubMed 23499554, ECO 0000269|PubMed 24043776, ECO 0000269|PubMed 24124190}. # GO_component GO:0005576 extracellular region; IDA:UniProtKB. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_function GO:0008289 lipid binding; IEA:InterPro. # GO_process GO:0019731 antibacterial humoral response; IDA:UniProtKB. # GO_process GO:0045087 innate immune response; IDA:UniProtKB. # GO_process GO:0050828 regulation of liquid surface tension; IDA:UniProtKB. # GO_process GO:0050891 multicellular organismal water homeostasis; IDA:UniProtKB. # GO_process GO:1900229 negative regulation of single-species biofilm formation in or on host organism; IMP:UniProtKB. # GO_process GO:1902305 regulation of sodium ion transmembrane transport; IDA:UniProtKB. # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005615 extracellular space # GOslim_function GO:0008289 lipid binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0042592 homeostatic process # Genevisible Q9NP55 HS # HGNC HGNC:15749 BPIFA1 # INDUCTION By all-trans retinoic acid (ATRA). {ECO:0000269|PubMed 12409287}. # INTERACTION BPIA1_HUMAN Q9UMX0-2 UBQLN1; NbExp=3; IntAct=EBI-953896, EBI-10173939; # IntAct Q9NP55 5 # InterPro IPR017942 Lipid-bd_serum_glycop_N # InterPro IPR017943 Bactericidal_perm-incr_a/b_dom # InterPro IPR032942 BPI/LBP/Plunc # InterPro IPR032953 BPIFA1/Latherin # MIM 607412 gene # Organism BPIA1_HUMAN Homo sapiens (Human) # PANTHER PTHR10504 PTHR10504 # PANTHER PTHR10504:SF70 PTHR10504:SF70 # PDB 4KEG X-ray; 2.50 A; A=43-256 # PDB 4KGH X-ray; 2.81 A; A/B=19-256 # PDB 4KGO X-ray; 3.19 A; A/B=19-256 # PDB 4N4X X-ray; 2.50 A; A=43-256 # PDB 5I7J X-ray; 2.54 A; A/B=19-256 # PDB 5I7K X-ray; 2.55 A; A/B=19-256 # PDB 5I7L X-ray; 2.60 A; A/B=19-256 # PTM BPIA1_HUMAN May be N-glycosylated. {ECO 0000269|PubMed 15158712}. # Pfam PF01273 LBP_BPI_CETP # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-6803157 Antimicrobial peptides # RecName BPIA1_HUMAN BPI fold-containing family A member 1 # RefSeq NP_001230122 NM_001243193.1. [Q9NP55-1] # RefSeq NP_057667 NM_016583.3. [Q9NP55-1] # RefSeq NP_570913 NM_130852.2. [Q9NP55-1] # SIMILARITY Belongs to the BPI/LBP/Plunc superfamily. Plunc family. {ECO 0000305}. # SUBCELLULAR LOCATION BPIA1_HUMAN Secreted {ECO 0000269|PubMed 11425234, ECO 0000269|PubMed 12920053, ECO 0000269|PubMed 15158712, ECO 0000269|PubMed 23499554, ECO 0000269|PubMed 24043776, ECO 0000269|PubMed 24124190}. Note=Apical side of airway epithelial cells. Detected in airway surface liquid, nasal mucus and sputum. # SUBUNIT BPIA1_HUMAN Monomer. Interacts (via N-terminus) with SCNN1B, a subunit of the heterotrimeric epithelial sodium channel (ENaC); this inhibits proteolytic activation of ENaC. {ECO 0000269|PubMed 24043776, ECO 0000269|PubMed 24124190}. # SUPFAM SSF55394 SSF55394 # TISSUE SPECIFICITY BPIA1_HUMAN Lung, upper airways and nasopharyngeal regions, including trachea and nasal epithelium. Specifically expressed in the secretory ducts and submucosal glands of tracheobronchial tissues. Highest expression in the trachea and progressive decrease from proximal (bronchial) to distal (bronchiolar) airways. Also expressed in lung cancers and some other types of cancer. {ECO 0000269|PubMed 11018263, ECO 0000269|PubMed 11251963, ECO 0000269|PubMed 12409287, ECO 0000269|PubMed 12920053}. # UCSC uc002wyt human. [Q9NP55-1] # eggNOG ENOG410IWYF Eukaryota # eggNOG ENOG41114MD LUCA BLAST swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BPIA1_HUMAN BioCyc ZFISH:G66-32709-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32709-MONOMER COXPRESdb 51297 http://coxpresdb.jp/data/gene/51297.shtml CleanEx HS_PLUNC http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PLUNC DOI 10.1002/1097-0215(200002)9999:9999<::AID-IJC1059>3.0.CO http://dx.doi.org/10.1002/1097-0215(200002)9999:9999<::AID-IJC1059>3.0.CO DOI 10.1002/1522-2683(200105)22:9<1795::AID-ELPS1795>3.0.CO http://dx.doi.org/10.1002/1522-2683(200105)22:9<1795::AID-ELPS1795>3.0.CO DOI 10.1016/S0167-4781(00)00196-2 http://dx.doi.org/10.1016/S0167-4781(00)00196-2 DOI 10.1016/j.ajpath.2013.01.050 http://dx.doi.org/10.1016/j.ajpath.2013.01.050 DOI 10.1016/j.bbapap.2004.01.001 http://dx.doi.org/10.1016/j.bbapap.2004.01.001 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.1311999110 http://dx.doi.org/10.1073/pnas.1311999110 DOI 10.1074/jbc.M210523200 http://dx.doi.org/10.1074/jbc.M210523200 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 10.1128/IAI.00500-12 http://dx.doi.org/10.1128/IAI.00500-12 DOI 10.1152/ajplung.00103.2013 http://dx.doi.org/10.1152/ajplung.00103.2013 DOI 10.1165/rcmb.2003-0142OC http://dx.doi.org/10.1165/rcmb.2003-0142OC EMBL AB024937 http://www.ebi.ac.uk/ena/data/view/AB024937 EMBL AF158745 http://www.ebi.ac.uk/ena/data/view/AF158745 EMBL AF172993 http://www.ebi.ac.uk/ena/data/view/AF172993 EMBL AF214562 http://www.ebi.ac.uk/ena/data/view/AF214562 EMBL AF417256 http://www.ebi.ac.uk/ena/data/view/AF417256 EMBL AF417257 http://www.ebi.ac.uk/ena/data/view/AF417257 EMBL AF421369 http://www.ebi.ac.uk/ena/data/view/AF421369 EMBL AF439448 http://www.ebi.ac.uk/ena/data/view/AF439448 EMBL AK292778 http://www.ebi.ac.uk/ena/data/view/AK292778 EMBL AL121901 http://www.ebi.ac.uk/ena/data/view/AL121901 EMBL AY359020 http://www.ebi.ac.uk/ena/data/view/AY359020 EMBL BC012549 http://www.ebi.ac.uk/ena/data/view/BC012549 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 DQ846869 http://www.ebi.ac.uk/ena/data/view/DQ846869 Ensembl ENST00000354297 http://www.ensembl.org/id/ENST00000354297 Ensembl ENST00000375413 http://www.ensembl.org/id/ENST00000375413 Ensembl ENST00000375422 http://www.ensembl.org/id/ENST00000375422 Ensembl ENST00000618484 http://www.ensembl.org/id/ENST00000618484 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_function GO:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GO_process GO:0019731 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019731 GO_process GO:0045087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045087 GO_process GO:0050828 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050828 GO_process GO:0050891 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050891 GO_process GO:1900229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1900229 GO_process GO:1902305 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902305 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_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: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 BPIFA1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BPIFA1 GeneID 51297 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51297 GeneTree ENSGT00840000129898 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00840000129898 HGNC HGNC:15749 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15749 HOGENOM HOG000231510 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231510&db=HOGENOM6 HOVERGEN HBG045573 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG045573&db=HOVERGEN HPA CAB025669 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB025669 InParanoid Q9NP55 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NP55 IntAct Q9NP55 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NP55* InterPro IPR017942 http://www.ebi.ac.uk/interpro/entry/IPR017942 InterPro IPR017943 http://www.ebi.ac.uk/interpro/entry/IPR017943 InterPro IPR032942 http://www.ebi.ac.uk/interpro/entry/IPR032942 InterPro IPR032953 http://www.ebi.ac.uk/interpro/entry/IPR032953 Jabion 51297 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51297 KEGG_Gene hsa:51297 http://www.genome.jp/dbget-bin/www_bget?hsa:51297 MIM 607412 http://www.ncbi.nlm.nih.gov/omim/607412 MINT MINT-2873129 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-2873129 OMA QGKVCPL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QGKVCPL OrthoDB EOG091G048N http://cegg.unige.ch/orthodb/results?searchtext=EOG091G048N PANTHER PTHR10504 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10504 PANTHER PTHR10504:SF70 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10504:SF70 PDB 4KEG http://www.ebi.ac.uk/pdbe-srv/view/entry/4KEG PDB 4KGH http://www.ebi.ac.uk/pdbe-srv/view/entry/4KGH PDB 4KGO http://www.ebi.ac.uk/pdbe-srv/view/entry/4KGO PDB 4N4X http://www.ebi.ac.uk/pdbe-srv/view/entry/4N4X PDB 5I7J http://www.ebi.ac.uk/pdbe-srv/view/entry/5I7J PDB 5I7K http://www.ebi.ac.uk/pdbe-srv/view/entry/5I7K PDB 5I7L http://www.ebi.ac.uk/pdbe-srv/view/entry/5I7L PDBsum 4KEG http://www.ebi.ac.uk/pdbsum/4KEG PDBsum 4KGH http://www.ebi.ac.uk/pdbsum/4KGH PDBsum 4KGO http://www.ebi.ac.uk/pdbsum/4KGO PDBsum 4N4X http://www.ebi.ac.uk/pdbsum/4N4X PDBsum 5I7J http://www.ebi.ac.uk/pdbsum/5I7J PDBsum 5I7K http://www.ebi.ac.uk/pdbsum/5I7K PDBsum 5I7L http://www.ebi.ac.uk/pdbsum/5I7L PSORT swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BPIA1_HUMAN PSORT-B swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BPIA1_HUMAN PSORT2 swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BPIA1_HUMAN Pfam PF01273 http://pfam.xfam.org/family/PF01273 PharmGKB PA33423 http://www.pharmgkb.org/do/serve?objId=PA33423&objCls=Gene Phobius swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BPIA1_HUMAN PhylomeDB Q9NP55 http://phylomedb.org/?seqid=Q9NP55 ProteinModelPortal Q9NP55 http://www.proteinmodelportal.org/query/uniprot/Q9NP55 PubMed 11018263 http://www.ncbi.nlm.nih.gov/pubmed/11018263 PubMed 11251963 http://www.ncbi.nlm.nih.gov/pubmed/11251963 PubMed 11425234 http://www.ncbi.nlm.nih.gov/pubmed/11425234 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 12409287 http://www.ncbi.nlm.nih.gov/pubmed/12409287 PubMed 12920053 http://www.ncbi.nlm.nih.gov/pubmed/12920053 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15158712 http://www.ncbi.nlm.nih.gov/pubmed/15158712 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 23132494 http://www.ncbi.nlm.nih.gov/pubmed/23132494 PubMed 23499554 http://www.ncbi.nlm.nih.gov/pubmed/23499554 PubMed 24043776 http://www.ncbi.nlm.nih.gov/pubmed/24043776 PubMed 24124190 http://www.ncbi.nlm.nih.gov/pubmed/24124190 Reactome R-HSA-6803157 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6803157 RefSeq NP_001230122 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001230122 RefSeq NP_057667 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057667 RefSeq NP_570913 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_570913 SMR Q9NP55 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NP55 STRING 9606.ENSP00000346251 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000346251&targetmode=cogs SUPFAM SSF55394 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55394 UCSC uc002wyt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002wyt&org=rat UniGene Hs.211092 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.211092 UniProtKB BPIA1_HUMAN http://www.uniprot.org/uniprot/BPIA1_HUMAN UniProtKB-AC Q9NP55 http://www.uniprot.org/uniprot/Q9NP55 charge swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BPIA1_HUMAN eggNOG ENOG410IWYF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IWYF eggNOG ENOG41114MD http://eggnogapi.embl.de/nog_data/html/tree/ENOG41114MD epestfind swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BPIA1_HUMAN garnier swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BPIA1_HUMAN helixturnhelix swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BPIA1_HUMAN hmoment swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BPIA1_HUMAN iep swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BPIA1_HUMAN inforesidue swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BPIA1_HUMAN neXtProt NX_Q9NP55 http://www.nextprot.org/db/entry/NX_Q9NP55 octanol swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BPIA1_HUMAN pepcoil swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BPIA1_HUMAN pepdigest swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BPIA1_HUMAN pepinfo swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BPIA1_HUMAN pepnet swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BPIA1_HUMAN pepstats swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BPIA1_HUMAN pepwheel swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BPIA1_HUMAN pepwindow swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BPIA1_HUMAN sigcleave swissprot:BPIA1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BPIA1_HUMAN ## Database ID URL or Descriptions # AltName SPG17_HUMAN Projection protein PF6 homolog # ChiTaRS SPAG17 human # Ensembl ENST00000336338 ENSP00000337804; ENSG00000155761 # ExpressionAtlas Q6Q759 baseline and differential # FUNCTION SPG17_HUMAN Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts. {ECO 0000250|UniProtKB Q5S003}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005874 microtubule; IEA:UniProtKB-KW. # GO_component GO:0031514 motile cilium; IEA:UniProtKB-KW. # GO_component GO:1990716 axonemal central apparatus; IBA:GO_Central. # GO_process GO:0003351 epithelial cilium movement; IBA:GO_Central. # GO_process GO:1904158 axonemal central apparatus assembly; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005929 cilium # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # Genevisible Q6Q759 HS # HGNC HGNC:26620 SPAG17 # InterPro IPR026173 SPAG17 # MIM 616554 gene # Organism SPG17_HUMAN Homo sapiens (Human) # PANTHER PTHR21963 PTHR21963; 2 # PIR T46291 T46291 # Proteomes UP000005640 Chromosome 1 # RecName SPG17_HUMAN Sperm-associated antigen 17 # RefSeq NP_996879 NM_206996.2 # SUBCELLULAR LOCATION SPG17_HUMAN Cytoplasm {ECO 0000250|UniProtKB Q5S003}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO 0000250|UniProtKB Q5S003}. Note=Detected in the cytoplasm of round spermatids and in condensing spermatids. Localized to the central pair of the sperm flagellar axoneme. Colocalizes with SPAG6 on microtubules (By similarity). {ECO 0000250|UniProtKB Q5S003}. # SUBUNIT Interacts (via the C-terminus) with SPAG6; the interaction probably occurs on polymerized microtubules. {ECO:0000250|UniProtKB Q5S003}. # TISSUE SPECIFICITY Highly expressed in testis. Expressed in organs that contain cilia-bearing cells including brain, oviduct, lung, and uterus. {ECO:0000269|PubMed 15827353}. # UCSC uc001ehk human # eggNOG ENOG410IGU0 Eukaryota # eggNOG ENOG410ZGKQ LUCA BLAST swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SPG17_HUMAN COXPRESdb 200162 http://coxpresdb.jp/data/gene/200162.shtml CleanEx HS_SPAG17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SPAG17 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.M400177-MCP200 http://dx.doi.org/10.1074/mcp.M400177-MCP200 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 AK091816 http://www.ebi.ac.uk/ena/data/view/AK091816 EMBL AL121993 http://www.ebi.ac.uk/ena/data/view/AL121993 EMBL AL121993 http://www.ebi.ac.uk/ena/data/view/AL121993 EMBL AL121993 http://www.ebi.ac.uk/ena/data/view/AL121993 EMBL AL137581 http://www.ebi.ac.uk/ena/data/view/AL137581 EMBL AL139345 http://www.ebi.ac.uk/ena/data/view/AL139345 EMBL AL139345 http://www.ebi.ac.uk/ena/data/view/AL139345 EMBL AL139345 http://www.ebi.ac.uk/ena/data/view/AL139345 EMBL AL513191 http://www.ebi.ac.uk/ena/data/view/AL513191 EMBL AL513191 http://www.ebi.ac.uk/ena/data/view/AL513191 EMBL AL513191 http://www.ebi.ac.uk/ena/data/view/AL513191 EMBL AY555274 http://www.ebi.ac.uk/ena/data/view/AY555274 Ensembl ENST00000336338 http://www.ensembl.org/id/ENST00000336338 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:0005874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005874 GO_component GO:0031514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031514 GO_component GO:1990716 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990716 GO_process GO:0003351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003351 GO_process GO:1904158 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904158 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:0005929 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929 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 SPAG17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SPAG17 GeneID 200162 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=200162 GeneTree ENSGT00390000013693 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000013693 HGNC HGNC:26620 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26620 HOGENOM HOG000154383 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154383&db=HOGENOM6 HOVERGEN HBG101382 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG101382&db=HOVERGEN HPA HPA028597 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028597 HPA HPA028666 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA028666 InParanoid Q6Q759 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6Q759 IntAct Q6Q759 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6Q759* InterPro IPR026173 http://www.ebi.ac.uk/interpro/entry/IPR026173 Jabion 200162 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=200162 KEGG_Gene hsa:200162 http://www.genome.jp/dbget-bin/www_bget?hsa:200162 MIM 616554 http://www.ncbi.nlm.nih.gov/omim/616554 OMA YKTVMPP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YKTVMPP OrthoDB EOG091G0194 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0194 PANTHER PTHR21963 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21963 PSORT swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SPG17_HUMAN PSORT-B swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SPG17_HUMAN PSORT2 swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SPG17_HUMAN PharmGKB PA142670888 http://www.pharmgkb.org/do/serve?objId=PA142670888&objCls=Gene Phobius swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SPG17_HUMAN PhylomeDB Q6Q759 http://phylomedb.org/?seqid=Q6Q759 ProteinModelPortal Q6Q759 http://www.proteinmodelportal.org/query/uniprot/Q6Q759 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15827353 http://www.ncbi.nlm.nih.gov/pubmed/15827353 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_996879 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_996879 SMR Q6Q759 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6Q759 STRING 9606.ENSP00000337804 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000337804&targetmode=cogs UCSC uc001ehk http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ehk&org=rat UniGene Hs.528821 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.528821 UniProtKB SPG17_HUMAN http://www.uniprot.org/uniprot/SPG17_HUMAN UniProtKB-AC Q6Q759 http://www.uniprot.org/uniprot/Q6Q759 charge swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SPG17_HUMAN eggNOG ENOG410IGU0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IGU0 eggNOG ENOG410ZGKQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZGKQ epestfind swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SPG17_HUMAN garnier swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SPG17_HUMAN helixturnhelix swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SPG17_HUMAN hmoment swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SPG17_HUMAN iep swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SPG17_HUMAN inforesidue swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SPG17_HUMAN neXtProt NX_Q6Q759 http://www.nextprot.org/db/entry/NX_Q6Q759 octanol swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SPG17_HUMAN pepcoil swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SPG17_HUMAN pepdigest swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SPG17_HUMAN pepinfo swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SPG17_HUMAN pepnet swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SPG17_HUMAN pepstats swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SPG17_HUMAN pepwheel swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SPG17_HUMAN pepwindow swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SPG17_HUMAN sigcleave swissprot:SPG17_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SPG17_HUMAN ## Database ID URL or Descriptions # AltName T53G5_HUMAN TP53-inducible gene 5 protein # BioGrid 118120 5 # Ensembl ENST00000372726 ENSP00000361811; ENSG00000124251 # FUNCTION T53G5_HUMAN May play a significant role in p53/TP53-mediating signaling pathway. {ECO 0000269|PubMed 10719363}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_process GO:0030308 negative regulation of cell growth; NAS:UniProtKB. # GO_process GO:0035556 intracellular signal transduction; NAS:UniProtKB. # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Genevisible Q9Y2B4 HS # HGNC HGNC:15856 TP53TG5 # INDUCTION By p53/TP53, UV irradiation, by hydrogen peroxide treatment or by treatment with a DNA-damaging reagent. {ECO:0000269|PubMed 10719363}. # InterPro IPR029290 TP53TG5 # Organism T53G5_HUMAN Homo sapiens (Human) # PANTHER PTHR15562 PTHR15562 # Pfam PF15331 TP53IP5 # Proteomes UP000005640 Chromosome 20 # RecName T53G5_HUMAN TP53-target gene 5 protein # RefSeq NP_055292 NM_014477.2 # SUBCELLULAR LOCATION T53G5_HUMAN Cytoplasm {ECO 0000269|PubMed 10719363}. Nucleus {ECO 0000269|PubMed 10719363}. Note=Cell cycle dependent intracellular localization. # SUBUNIT Interacts with p53/TP53. {ECO:0000269|PubMed 10719363}. # TISSUE SPECIFICITY Highly expressed in heart, brain and small intestine. Less abundant in skeletal muscle, spleen, prostate, ovary and colon. A smaller transcript is expressed specifically in the testis. {ECO:0000269|PubMed 10719363}. # UCSC uc002xny human # eggNOG ENOG410IKVF Eukaryota # eggNOG ENOG4111BJ4 LUCA BLAST swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:T53G5_HUMAN BioCyc ZFISH:ENSG00000124251-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000124251-MONOMER COXPRESdb 27296 http://coxpresdb.jp/data/gene/27296.shtml CleanEx HS_TP53TG5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TP53TG5 DOI 10.1002/(SICI)1098-2264(200004)27:4<345::AID-GCC2>3.0.CO http://dx.doi.org/10.1002/(SICI)1098-2264(200004)27:4<345::AID-GCC2>3.0.CO 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 AB017802 http://www.ebi.ac.uk/ena/data/view/AB017802 EMBL AL021578 http://www.ebi.ac.uk/ena/data/view/AL021578 EMBL BC036785 http://www.ebi.ac.uk/ena/data/view/BC036785 Ensembl ENST00000372726 http://www.ensembl.org/id/ENST00000372726 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_process GO:0030308 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030308 GO_process GO:0035556 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035556 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_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 TP53TG5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TP53TG5 GeneID 27296 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27296 GeneTree ENSGT00390000017387 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017387 HGNC HGNC:15856 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15856 HOGENOM HOG000152368 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000152368&db=HOGENOM6 HOVERGEN HBG076766 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG076766&db=HOVERGEN HPA HPA041979 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041979 InParanoid Q9Y2B4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y2B4 InterPro IPR029290 http://www.ebi.ac.uk/interpro/entry/IPR029290 Jabion 27296 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27296 KEGG_Gene hsa:27296 http://www.genome.jp/dbget-bin/www_bget?hsa:27296 OMA IWFEGLP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IWFEGLP OrthoDB EOG091G107D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G107D PANTHER PTHR15562 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15562 PSORT swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:T53G5_HUMAN PSORT-B swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:T53G5_HUMAN PSORT2 swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:T53G5_HUMAN Pfam PF15331 http://pfam.xfam.org/family/PF15331 PharmGKB PA25639 http://www.pharmgkb.org/do/serve?objId=PA25639&objCls=Gene Phobius swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:T53G5_HUMAN PhylomeDB Q9Y2B4 http://phylomedb.org/?seqid=Q9Y2B4 ProteinModelPortal Q9Y2B4 http://www.proteinmodelportal.org/query/uniprot/Q9Y2B4 PubMed 10719363 http://www.ncbi.nlm.nih.gov/pubmed/10719363 PubMed 11780052 http://www.ncbi.nlm.nih.gov/pubmed/11780052 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_055292 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055292 UCSC uc002xny http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xny&org=rat UniGene Hs.710271 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.710271 UniProtKB T53G5_HUMAN http://www.uniprot.org/uniprot/T53G5_HUMAN UniProtKB-AC Q9Y2B4 http://www.uniprot.org/uniprot/Q9Y2B4 charge swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:T53G5_HUMAN eggNOG ENOG410IKVF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IKVF eggNOG ENOG4111BJ4 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111BJ4 epestfind swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:T53G5_HUMAN garnier swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:T53G5_HUMAN helixturnhelix swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:T53G5_HUMAN hmoment swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:T53G5_HUMAN iep swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:T53G5_HUMAN inforesidue swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:T53G5_HUMAN neXtProt NX_Q9Y2B4 http://www.nextprot.org/db/entry/NX_Q9Y2B4 octanol swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:T53G5_HUMAN pepcoil swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:T53G5_HUMAN pepdigest swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:T53G5_HUMAN pepinfo swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:T53G5_HUMAN pepnet swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:T53G5_HUMAN pepstats swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:T53G5_HUMAN pepwheel swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:T53G5_HUMAN pepwindow swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:T53G5_HUMAN sigcleave swissprot:T53G5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:T53G5_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ACE2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BYF1-1; Sequence=Displayed; Name=2; IsoId=Q9BYF1-2; Sequence=VSP_014901, VSP_014902; Note=No experimental confirmation available.; # AltName ACE2_HUMAN ACE-related carboxypeptidase # AltName ACE2_HUMAN Angiotensin-converting enzyme homolog # AltName ACE2_HUMAN Metalloprotease MPROT15 # AltName ACE2_HUMAN Metalloprotease MPROT15 # BIOPHYSICOCHEMICAL PROPERTIES ACE2_HUMAN Kinetic parameters KM=6.9 uM for angiotensin I {ECO 0000269|PubMed 11815627}; KM=2 uM for angiotensin II {ECO 0000269|PubMed 11815627}; KM=6.8 uM for apelin-13 {ECO 0000269|PubMed 11815627}; KM=5.5 uM for dynorphin-13 {ECO 0000269|PubMed 11815627}; pH dependence Optimum pH is 6.5 in the presence of 1 M NaCl. Active from pH 6 to 9. {ECO 0000269|PubMed 11815627}; # BRENDA 3.4.15 2681 # BRENDA 3.4.17.23 2681 # BioGrid 121864 6 # CATALYTIC ACTIVITY ACE2_HUMAN Angiotensin II + H(2)O = angiotensin-(1-7) + L-phenylalanine. # CCDS CCDS14169 -. [Q9BYF1-1] # CDD cd06461 M2_ACE # COFACTOR ACE2_HUMAN Name=Zn(2+); Xref=ChEBI CHEBI 29105; Evidence={ECO 0000269|PubMed 11815627}; Note=Binds 1 zinc ion per subunit. {ECO 0000269|PubMed 11815627}; # COFACTOR ACE2_HUMAN Name=chloride; Xref=ChEBI CHEBI 17996; Evidence={ECO 0000269|PubMed 11815627}; Note=Binds 1 Cl(-) ion per subunit. {ECO 0000269|PubMed 11815627}; # ChiTaRS ACE2 human # DrugBank DB00691 Moexipril # DrugBank DB00722 Lisinopril # ENZYME REGULATION ACE2_HUMAN Activated by chloride and fluoride, but not bromide. Inhibited by MLN-4760, cFP_Leu, and EDTA, but not by the ACE inhibitors linosipril, captopril and enalaprilat. {ECO 0000269|PubMed 10924499, ECO 0000269|PubMed 10969042, ECO 0000269|PubMed 11815627, ECO 0000269|PubMed 15231706}. # Ensembl ENST00000252519 ENSP00000252519; ENSG00000130234. [Q9BYF1-1] # Ensembl ENST00000427411 ENSP00000389326; ENSG00000130234. [Q9BYF1-1] # FUNCTION ACE2_HUMAN (Microbial infection) Acts as a receptor for SARS coronavirus/SARS-CoV and human coronavirus NL63/HCoV-NL63. {ECO 0000269|PubMed 14647384, ECO 0000269|PubMed 15452268, ECO 0000269|PubMed 15791205, ECO 0000269|PubMed 15897467}. # FUNCTION ACE2_HUMAN Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator. Also able to hydrolyze apelin- 13 and dynorphin-13 with high efficiency. May be an important regulator of heart function. {ECO 0000269|PubMed 10924499, ECO 0000269|PubMed 10969042, ECO 0000269|PubMed 14647384, ECO 0000269|PubMed 24227843}. # GO_component GO:0005576 extracellular region; IDA:UniProtKB. # GO_component GO:0005615 extracellular space; IDA:BHF-UCL. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0009986 cell surface; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0045121 membrane raft; TAS:BHF-UCL. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0001618 virus receptor activity; IMP:UniProtKB. # GO_function GO:0001948 glycoprotein binding; IPI:BHF-UCL. # GO_function GO:0004175 endopeptidase activity; IDA:UniProtKB. # GO_function GO:0004180 carboxypeptidase activity; IDA:UniProtKB. # GO_function GO:0004181 metallocarboxypeptidase activity; EXP:Reactome. # GO_function GO:0008270 zinc ion binding; TAS:BHF-UCL. # GO_process GO:0001817 regulation of cytokine production; IC:BHF-UCL. # GO_process GO:0002003 angiotensin maturation; TAS:Reactome. # GO_process GO:0002005 angiotensin catabolic process in blood; IC:BHF-UCL. # GO_process GO:0003051 angiotensin-mediated drinking behavior; IMP:BHF-UCL. # GO_process GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin; IMP:BHF-UCL. # GO_process GO:0015827 tryptophan transport; IEA:Ensembl. # GO_process GO:0019229 regulation of vasoconstriction; IC:BHF-UCL. # GO_process GO:0032800 receptor biosynthetic process; IMP:BHF-UCL. # GO_process GO:0042127 regulation of cell proliferation; TAS:BHF-UCL. # GO_process GO:0042312 regulation of vasodilation; IC:BHF-UCL. # GO_process GO:0046718 viral entry into host cell; TAS:UniProtKB. # GO_process GO:0046813 receptor-mediated virion attachment to host cell; IDA:BHF-UCL. # GO_process GO:0050727 regulation of inflammatory response; IC:BHF-UCL. # GO_process GO:0060452 positive regulation of cardiac muscle contraction; IEA:Ensembl. # GO_process GO:1903598 positive regulation of gap junction assembly; IMP:BHF-UCL. # GO_process GO:1903779 regulation of cardiac conduction; IMP:BHF-UCL. # GO_process GO:2000379 positive regulation of reactive oxygen species metabolic process; IC:BHF-UCL. # 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:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008233 peptidase 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:0009056 catabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0051604 protein maturation # Genevisible Q9BYF1 HS # HGNC HGNC:13557 ACE2 # INDUCTION ACE2_HUMAN Up-regulated in failing heart. {ECO 0000269|PubMed 15151696, ECO 0000269|PubMed 15671045}. # InterPro IPR001548 Peptidase_M2 # InterPro IPR031588 Collectrin_dom # InterPro IPR033591 ACE2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01002 Peptidases # KEGG_Pathway ko04614 Renin-angiotensin system # KEGG_Pathway ko04974 Protein digestion and absorption # MIM 300335 gene # Organism ACE2_HUMAN Homo sapiens (Human) # PANTHER PTHR10514 PTHR10514; 2 # PANTHER PTHR10514:SF24 PTHR10514:SF24; 2 # PDB 1R42 X-ray; 2.20 A; A=1-615 # PDB 1R4L X-ray; 3.00 A; A=1-615 # PDB 1XJP Model; -; B=19-615 # PDB 2AJF X-ray; 2.90 A; A/B=19-615 # PDB 3D0G X-ray; 2.80 A; A/B=56-615 # PDB 3D0H X-ray; 3.10 A; A/B=56-615 # PDB 3D0I X-ray; 2.90 A; A/B=56-615 # PDB 3KBH X-ray; 3.31 A; A/B/C/D=19-615 # PDB 3SCI X-ray; 2.90 A; A/B=19-615 # PDB 3SCJ X-ray; 3.00 A; A/B=19-615 # PDB 3SCK X-ray; 3.00 A; A/B=83-615 # PDB 3SCL X-ray; 3.00 A; A/B=83-615 # PIR T14762 T14762 # PRINTS PR00791 PEPDIPTASEA # PROSITE PS00142 ZINC_PROTEASE # PTM ACE2_HUMAN N-glycosylation on Asn-90 may limit SARS infectivity. {ECO 0000269|PubMed 10924499, ECO 0000269|PubMed 14647384, ECO 0000269|PubMed 14754895, ECO 0000269|PubMed 15084671, ECO 0000269|PubMed 19159218}. # PTM ACE2_HUMAN Proteolytic cleavage by ADAM17 generates a secreted form. Also cleaved by serine proteases TMPRSS2, TMPRSS11D and HPN/TMPRSS1. {ECO 0000269|PubMed 15983030, ECO 0000269|PubMed 21068237, ECO 0000269|PubMed 21563828, ECO 0000269|PubMed 24227843}. # Pfam PF01401 Peptidase_M2 # Pfam PF16959 Collectrin # Proteomes UP000005640 Chromosome X # Reactome R-HSA-2022377 Metabolism of Angiotensinogen to Angiotensins # RecName ACE2_HUMAN Angiotensin-converting enzyme 2 # RecName ACE2_HUMAN Processed angiotensin-converting enzyme 2 # RefSeq NP_068576 NM_021804.2. [Q9BYF1-1] # SIMILARITY Belongs to the peptidase M2 family. {ECO 0000305}. # SUBCELLULAR LOCATION ACE2_HUMAN Cell membrane; Single-pass type I membrane protein. Cytoplasm {ECO 0000250}. Note=Detected in both cell membrane and cytoplasm in neurons. {ECO 0000250}. # SUBCELLULAR LOCATION ACE2_HUMAN Processed angiotensin-converting enzyme 2 Secreted. # SUBUNIT ACE2_HUMAN (Microbial infection) Interacts with SARS coronavirus/SARS-CoV and human coronavirus NL63/HCoV-NL63 spike glycoprotein (PubMed 14647384, PubMed 15452268, PubMed 15791205, PubMed 15897467). {ECO 0000269|PubMed 14647384, ECO 0000269|PubMed 15452268, ECO 0000269|PubMed 15791205, ECO 0000269|PubMed 15897467}. # SUBUNIT ACE2_HUMAN Interacts with ITGB1. Interacts with the catalytically active form of TMPRSS2. {ECO 0000269|PubMed 14754895, ECO 0000269|PubMed 15276642, ECO 0000269|PubMed 21068237}. # TISSUE SPECIFICITY ACE2_HUMAN Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. {ECO 0000269|PubMed 10924499, ECO 0000269|PubMed 10969042, ECO 0000269|PubMed 12459472, ECO 0000269|PubMed 15141377, ECO 0000269|PubMed 15231706, ECO 0000269|PubMed 15671045}. # UCSC uc004cxa human. [Q9BYF1-1] # WEB RESOURCE ACE2_HUMAN Name=SeattleSNPs; URL="http //pga.gs.washington.edu/data/ace2/"; # eggNOG ENOG410XPJ3 LUCA # eggNOG KOG3690 Eukaryota BLAST swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ACE2_HUMAN COXPRESdb 59272 http://coxpresdb.jp/data/gene/59272.shtml CleanEx HS_ACE2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ACE2 DIP DIP-44689N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-44689N DOI 10.1002/ajmg.a.30779 http://dx.doi.org/10.1002/ajmg.a.30779 DOI 10.1002/path.1570 http://dx.doi.org/10.1002/path.1570 DOI 10.1016/S0014-5793(02)03640-2 http://dx.doi.org/10.1016/S0014-5793(02)03640-2 DOI 10.1016/j.bbadis.2004.05.005 http://dx.doi.org/10.1016/j.bbadis.2004.05.005 DOI 10.1021/bi200525y http://dx.doi.org/10.1021/bi200525y DOI 10.1021/pr8008012 http://dx.doi.org/10.1021/pr8008012 DOI 10.1038/nature02145 http://dx.doi.org/10.1038/nature02145 DOI 10.1038/sj.emboj.7600640 http://dx.doi.org/10.1038/sj.emboj.7600640 DOI 10.1073/pnas.0409465102 http://dx.doi.org/10.1073/pnas.0409465102 DOI 10.1074/jbc.M002615200 http://dx.doi.org/10.1074/jbc.M002615200 DOI 10.1074/jbc.M200581200 http://dx.doi.org/10.1074/jbc.M200581200 DOI 10.1074/jbc.M311191200 http://dx.doi.org/10.1074/jbc.M311191200 DOI 10.1074/jbc.M505111200 http://dx.doi.org/10.1074/jbc.M505111200 DOI 10.1074/mcp.M400015-MCP200 http://dx.doi.org/10.1074/mcp.M400015-MCP200 DOI 10.1093/eurheartj/ehi114 http://dx.doi.org/10.1093/eurheartj/ehi114 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 10.1128/JVI.02062-10 http://dx.doi.org/10.1128/JVI.02062-10 DOI 10.1128/JVI.02202-13 http://dx.doi.org/10.1128/JVI.02202-13 DOI 10.1128/JVI.78.20.11429-11433.2004 http://dx.doi.org/10.1128/JVI.78.20.11429-11433.2004 DOI 10.1161/01.RES.87.5.e1 http://dx.doi.org/10.1161/01.RES.87.5.e1 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1186/1741-7015-2-19 http://dx.doi.org/10.1186/1741-7015-2-19 DOI 10.1210/en.2004-0443 http://dx.doi.org/10.1210/en.2004-0443 DrugBank DB00691 http://www.drugbank.ca/drugs/DB00691 DrugBank DB00722 http://www.drugbank.ca/drugs/DB00722 EC_number EC:3.4.17.23 http://www.genome.jp/dbget-bin/www_bget?EC:3.4.17.23 EMBL AB046569 http://www.ebi.ac.uk/ena/data/view/AB046569 EMBL AB193259 http://www.ebi.ac.uk/ena/data/view/AB193259 EMBL AB193260 http://www.ebi.ac.uk/ena/data/view/AB193260 EMBL AF241254 http://www.ebi.ac.uk/ena/data/view/AF241254 EMBL AF291820 http://www.ebi.ac.uk/ena/data/view/AF291820 EMBL AL110224 http://www.ebi.ac.uk/ena/data/view/AL110224 EMBL AY217547 http://www.ebi.ac.uk/ena/data/view/AY217547 EMBL AY358714 http://www.ebi.ac.uk/ena/data/view/AY358714 EMBL AY623811 http://www.ebi.ac.uk/ena/data/view/AY623811 EMBL BC039902 http://www.ebi.ac.uk/ena/data/view/BC039902 EMBL BC048094 http://www.ebi.ac.uk/ena/data/view/BC048094 EMBL CH471074 http://www.ebi.ac.uk/ena/data/view/CH471074 EMBL E39033 http://www.ebi.ac.uk/ena/data/view/E39033 EMBL GQ262784 http://www.ebi.ac.uk/ena/data/view/GQ262784 ENZYME 3.4.17.23 http://enzyme.expasy.org/EC/3.4.17.23 Ensembl ENST00000252519 http://www.ensembl.org/id/ENST00000252519 Ensembl ENST00000427411 http://www.ensembl.org/id/ENST00000427411 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: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: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: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:0004175 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004175 GO_function GO:0004180 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004180 GO_function GO:0004181 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004181 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_process GO:0001817 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001817 GO_process GO:0002003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002003 GO_process GO:0002005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002005 GO_process GO:0003051 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003051 GO_process GO:0003081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003081 GO_process GO:0015827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015827 GO_process GO:0019229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019229 GO_process GO:0032800 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032800 GO_process GO:0042127 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042127 GO_process GO:0042312 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042312 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:0050727 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050727 GO_process GO:0060452 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060452 GO_process GO:1903598 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903598 GO_process GO:1903779 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903779 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: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: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:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 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: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:0051604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051604 GeneCards ACE2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ACE2 GeneID 59272 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=59272 GeneTree ENSGT00520000055576 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00520000055576 HGNC HGNC:13557 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13557 HOGENOM HOG000292210 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000292210&db=HOGENOM6 HOVERGEN HBG000265 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000265&db=HOVERGEN HPA CAB026174 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB026174 HPA HPA000288 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA000288 InParanoid Q9BYF1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BYF1 IntAct Q9BYF1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BYF1* IntEnz 3.4.17.23 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.4.17.23 InterPro IPR001548 http://www.ebi.ac.uk/interpro/entry/IPR001548 InterPro IPR031588 http://www.ebi.ac.uk/interpro/entry/IPR031588 InterPro IPR033591 http://www.ebi.ac.uk/interpro/entry/IPR033591 Jabion 59272 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=59272 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:59272 http://www.genome.jp/dbget-bin/www_bget?hsa:59272 KEGG_Orthology KO:K09708 http://www.genome.jp/dbget-bin/www_bget?KO:K09708 KEGG_Pathway ko04614 http://www.genome.jp/kegg-bin/show_pathway?ko04614 KEGG_Pathway ko04974 http://www.genome.jp/kegg-bin/show_pathway?ko04974 MIM 300335 http://www.ncbi.nlm.nih.gov/omim/300335 MINT MINT-4538816 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4538816 OMA CNPNNPQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CNPNNPQ OrthoDB EOG091G033S http://cegg.unige.ch/orthodb/results?searchtext=EOG091G033S PANTHER PTHR10514 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10514 PANTHER PTHR10514:SF24 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10514:SF24 PDB 1R42 http://www.ebi.ac.uk/pdbe-srv/view/entry/1R42 PDB 1R4L http://www.ebi.ac.uk/pdbe-srv/view/entry/1R4L PDB 1XJP http://www.ebi.ac.uk/pdbe-srv/view/entry/1XJP PDB 2AJF http://www.ebi.ac.uk/pdbe-srv/view/entry/2AJF PDB 3D0G http://www.ebi.ac.uk/pdbe-srv/view/entry/3D0G PDB 3D0H http://www.ebi.ac.uk/pdbe-srv/view/entry/3D0H PDB 3D0I http://www.ebi.ac.uk/pdbe-srv/view/entry/3D0I PDB 3KBH http://www.ebi.ac.uk/pdbe-srv/view/entry/3KBH PDB 3SCI http://www.ebi.ac.uk/pdbe-srv/view/entry/3SCI PDB 3SCJ http://www.ebi.ac.uk/pdbe-srv/view/entry/3SCJ PDB 3SCK http://www.ebi.ac.uk/pdbe-srv/view/entry/3SCK PDB 3SCL http://www.ebi.ac.uk/pdbe-srv/view/entry/3SCL PDBsum 1R42 http://www.ebi.ac.uk/pdbsum/1R42 PDBsum 1R4L http://www.ebi.ac.uk/pdbsum/1R4L PDBsum 1XJP http://www.ebi.ac.uk/pdbsum/1XJP PDBsum 2AJF http://www.ebi.ac.uk/pdbsum/2AJF PDBsum 3D0G http://www.ebi.ac.uk/pdbsum/3D0G PDBsum 3D0H http://www.ebi.ac.uk/pdbsum/3D0H PDBsum 3D0I http://www.ebi.ac.uk/pdbsum/3D0I PDBsum 3KBH http://www.ebi.ac.uk/pdbsum/3KBH PDBsum 3SCI http://www.ebi.ac.uk/pdbsum/3SCI PDBsum 3SCJ http://www.ebi.ac.uk/pdbsum/3SCJ PDBsum 3SCK http://www.ebi.ac.uk/pdbsum/3SCK PDBsum 3SCL http://www.ebi.ac.uk/pdbsum/3SCL PRINTS PR00791 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00791 PROSITE PS00142 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00142 PSORT swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ACE2_HUMAN PSORT-B swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ACE2_HUMAN PSORT2 swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ACE2_HUMAN Pfam PF01401 http://pfam.xfam.org/family/PF01401 Pfam PF16959 http://pfam.xfam.org/family/PF16959 PharmGKB PA425 http://www.pharmgkb.org/do/serve?objId=PA425&objCls=Gene Phobius swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ACE2_HUMAN PhylomeDB Q9BYF1 http://phylomedb.org/?seqid=Q9BYF1 ProteinModelPortal Q9BYF1 http://www.proteinmodelportal.org/query/uniprot/Q9BYF1 PubMed 10924499 http://www.ncbi.nlm.nih.gov/pubmed/10924499 PubMed 10969042 http://www.ncbi.nlm.nih.gov/pubmed/10969042 PubMed 11815627 http://www.ncbi.nlm.nih.gov/pubmed/11815627 PubMed 12459472 http://www.ncbi.nlm.nih.gov/pubmed/12459472 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14647384 http://www.ncbi.nlm.nih.gov/pubmed/14647384 PubMed 14754895 http://www.ncbi.nlm.nih.gov/pubmed/14754895 PubMed 15084671 http://www.ncbi.nlm.nih.gov/pubmed/15084671 PubMed 15141377 http://www.ncbi.nlm.nih.gov/pubmed/15141377 PubMed 15151696 http://www.ncbi.nlm.nih.gov/pubmed/15151696 PubMed 15231706 http://www.ncbi.nlm.nih.gov/pubmed/15231706 PubMed 15276642 http://www.ncbi.nlm.nih.gov/pubmed/15276642 PubMed 15452268 http://www.ncbi.nlm.nih.gov/pubmed/15452268 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15671045 http://www.ncbi.nlm.nih.gov/pubmed/15671045 PubMed 15791205 http://www.ncbi.nlm.nih.gov/pubmed/15791205 PubMed 15897467 http://www.ncbi.nlm.nih.gov/pubmed/15897467 PubMed 15937940 http://www.ncbi.nlm.nih.gov/pubmed/15937940 PubMed 15983030 http://www.ncbi.nlm.nih.gov/pubmed/15983030 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 21068237 http://www.ncbi.nlm.nih.gov/pubmed/21068237 PubMed 21563828 http://www.ncbi.nlm.nih.gov/pubmed/21563828 PubMed 24227843 http://www.ncbi.nlm.nih.gov/pubmed/24227843 Reactome R-HSA-2022377 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2022377 RefSeq NP_068576 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_068576 SMR Q9BYF1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BYF1 STRING 9606.ENSP00000252519 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000252519&targetmode=cogs UCSC uc004cxa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004cxa&org=rat UniGene Hs.178098 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.178098 UniProtKB ACE2_HUMAN http://www.uniprot.org/uniprot/ACE2_HUMAN UniProtKB-AC Q9BYF1 http://www.uniprot.org/uniprot/Q9BYF1 charge swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ACE2_HUMAN eggNOG ENOG410XPJ3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPJ3 eggNOG KOG3690 http://eggnogapi.embl.de/nog_data/html/tree/KOG3690 epestfind swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ACE2_HUMAN garnier swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ACE2_HUMAN helixturnhelix swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ACE2_HUMAN hmoment swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ACE2_HUMAN iep swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ACE2_HUMAN inforesidue swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ACE2_HUMAN neXtProt NX_Q9BYF1 http://www.nextprot.org/db/entry/NX_Q9BYF1 octanol swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ACE2_HUMAN pepcoil swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ACE2_HUMAN pepdigest swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ACE2_HUMAN pepinfo swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ACE2_HUMAN pepnet swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ACE2_HUMAN pepstats swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ACE2_HUMAN pepwheel swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ACE2_HUMAN pepwindow swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ACE2_HUMAN sigcleave swissprot:ACE2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ACE2_HUMAN ## Database ID URL or Descriptions # AltName XCL2_HUMAN C motif chemokine 2 # AltName XCL2_HUMAN XC chemokine ligand 2 # BioGrid 112713 2 # CDD cd00271 Chemokine_C # Ensembl ENST00000367819 ENSP00000356793; ENSG00000143185 # FUNCTION XCL2_HUMAN Chemotactic activity for lymphocytes but not for monocytes or neutrophils. {ECO 0000250}. # GO_component GO:0005576 extracellular region; TAS:Reactome. # GO_component GO:0005615 extracellular space; IBA:GO_Central. # GO_function GO:0008009 chemokine activity; TAS:ProtInc. # GO_function GO:0048020 CCR chemokine receptor binding; IBA:GO_Central. # GO_process GO:0002548 monocyte chemotaxis; IBA:GO_Central. # GO_process GO:0006954 inflammatory response; IBA:GO_Central. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007186 G-protein coupled receptor signaling pathway; IBA:GO_Central. # GO_process GO:0008015 blood circulation; TAS:ProtInc. # GO_process GO:0030593 neutrophil chemotaxis; IBA:GO_Central. # GO_process GO:0043547 positive regulation of GTPase activity; IBA:GO_Central. # GO_process GO:0048247 lymphocyte chemotaxis; IBA:GO_Central. # GO_process GO:0050729 positive regulation of inflammatory response; IBA:GO_Central. # GO_process GO:0070098 chemokine-mediated signaling pathway; IBA:GO_Central. # GO_process GO:0070374 positive regulation of ERK1 and ERK2 cascade; IBA:GO_Central. # GO_process GO:0071346 cellular response to interferon-gamma; IBA:GO_Central. # GO_process GO:0071347 cellular response to interleukin-1; IBA:GO_Central. # GO_process GO:0071356 cellular response to tumor necrosis factor; IBA:GO_Central. # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005615 extracellular space # GOslim_function GO:0003674 molecular_function # GOslim_process GO:0002376 immune system process # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048870 cell motility # Genevisible Q9UBD3 HS # HGNC HGNC:10646 XCL2 # INTERACTION XCL2_HUMAN P60411 KRTAP10-9; NbExp=3; IntAct=EBI-10319095, EBI-10172052; Q7Z3S9 NOTCH2NL; NbExp=3; IntAct=EBI-10319095, EBI-945833; # IntAct Q9UBD3 2 # InterPro IPR001811 Chemokine_IL8-like_dom # InterPro IPR008105 Chemokine_XCL1/XCL2 # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko04052 Cytokines # KEGG_Pathway ko04060 Cytokine-cytokine receptor interaction # KEGG_Pathway ko04062 Chemokine signaling pathway # MIM 604828 gene # Organism XCL2_HUMAN Homo sapiens (Human) # PRINTS PR01731 LYMPHOTACTIN # Pfam PF00048 IL8 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-380108 Chemokine receptors bind chemokines # Reactome R-HSA-416476 G alpha (q) signalling events # RecName XCL2_HUMAN Cytokine SCM-1 beta # RefSeq NP_003166 NM_003175.3 # SIMILARITY Belongs to the intercrine gamma family. {ECO 0000305}. # SMART SM00199 SCY # SUBCELLULAR LOCATION XCL2_HUMAN Secreted. # SUPFAM SSF54117 SSF54117 # UCSC uc001gfn human # WEB RESOURCE XCL2_HUMAN Name=Wikipedia; Note=XCL2 entry; URL="https //en.wikipedia.org/wiki/XCL2"; # eggNOG ENOG410IZ5E Eukaryota # eggNOG ENOG4111C3M LUCA BLAST swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:XCL2_HUMAN BioCyc ZFISH:ENSG00000143185-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000143185-MONOMER COXPRESdb 6846 http://coxpresdb.jp/data/gene/6846.shtml CleanEx HS_XCL2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_XCL2 DOI 10.1016/0014-5793(96)01004-6 http://dx.doi.org/10.1016/0014-5793(96)01004-6 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 10.1110/ps.04682504 http://dx.doi.org/10.1110/ps.04682504 EMBL AL031736 http://www.ebi.ac.uk/ena/data/view/AL031736 EMBL BC069360 http://www.ebi.ac.uk/ena/data/view/BC069360 EMBL BC070308 http://www.ebi.ac.uk/ena/data/view/BC070308 EMBL D63789 http://www.ebi.ac.uk/ena/data/view/D63789 Ensembl ENST00000367819 http://www.ensembl.org/id/ENST00000367819 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_function GO:0008009 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008009 GO_function GO:0048020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048020 GO_process GO:0002548 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002548 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:0007186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186 GO_process GO:0008015 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008015 GO_process GO:0030593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030593 GO_process GO:0043547 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043547 GO_process GO:0048247 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048247 GO_process GO:0050729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050729 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:0071346 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071346 GO_process GO:0071347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071347 GO_process GO:0071356 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071356 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_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: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:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards XCL2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=XCL2 GeneID 6846 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6846 GeneTree ENSGT00390000005120 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005120 HGNC HGNC:10646 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:10646 HOGENOM HOG000036685 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000036685&db=HOGENOM6 HOVERGEN HBG102118 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG102118&db=HOVERGEN HPA HPA057725 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057725 InParanoid Q9UBD3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UBD3 IntAct Q9UBD3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UBD3* InterPro IPR001811 http://www.ebi.ac.uk/interpro/entry/IPR001811 InterPro IPR008105 http://www.ebi.ac.uk/interpro/entry/IPR008105 Jabion 6846 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6846 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:6846 http://www.genome.jp/dbget-bin/www_bget?hsa:6846 KEGG_Orthology KO:K05507 http://www.genome.jp/dbget-bin/www_bget?KO:K05507 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 604828 http://www.ncbi.nlm.nih.gov/omim/604828 OMA CANPEAN http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CANPEAN OrthoDB EOG091G15G5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G15G5 PRINTS PR01731 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01731 PSORT swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:XCL2_HUMAN PSORT-B swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:XCL2_HUMAN PSORT2 swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:XCL2_HUMAN Pfam PF00048 http://pfam.xfam.org/family/PF00048 PharmGKB PA35576 http://www.pharmgkb.org/do/serve?objId=PA35576&objCls=Gene Phobius swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:XCL2_HUMAN PhylomeDB Q9UBD3 http://phylomedb.org/?seqid=Q9UBD3 ProteinModelPortal Q9UBD3 http://www.proteinmodelportal.org/query/uniprot/Q9UBD3 PubMed 15340161 http://www.ncbi.nlm.nih.gov/pubmed/15340161 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16710414 http://www.ncbi.nlm.nih.gov/pubmed/16710414 PubMed 8849694 http://www.ncbi.nlm.nih.gov/pubmed/8849694 Reactome R-HSA-380108 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-380108 Reactome R-HSA-416476 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416476 RefSeq NP_003166 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003166 SMART SM00199 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00199 SMR Q9UBD3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9UBD3 STRING 9606.ENSP00000356793 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000356793&targetmode=cogs SUPFAM SSF54117 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54117 UCSC uc001gfn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gfn&org=rat UniGene Hs.458346 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.458346 UniProtKB XCL2_HUMAN http://www.uniprot.org/uniprot/XCL2_HUMAN UniProtKB-AC Q9UBD3 http://www.uniprot.org/uniprot/Q9UBD3 charge swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:XCL2_HUMAN eggNOG ENOG410IZ5E http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IZ5E eggNOG ENOG4111C3M http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111C3M epestfind swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:XCL2_HUMAN garnier swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:XCL2_HUMAN helixturnhelix swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:XCL2_HUMAN hmoment swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:XCL2_HUMAN iep swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:XCL2_HUMAN inforesidue swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:XCL2_HUMAN neXtProt NX_Q9UBD3 http://www.nextprot.org/db/entry/NX_Q9UBD3 octanol swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:XCL2_HUMAN pepcoil swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:XCL2_HUMAN pepdigest swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:XCL2_HUMAN pepinfo swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:XCL2_HUMAN pepnet swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:XCL2_HUMAN pepstats swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:XCL2_HUMAN pepwheel swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:XCL2_HUMAN pepwindow swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:XCL2_HUMAN sigcleave swissprot:XCL2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:XCL2_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 Event=Alternative splicing; Named isoforms=4; Comment=At least 2 isoforms are produced.; Name=1; IsoId=Q14451-1; Sequence=Displayed; Name=2; Synonyms=Grb7V; IsoId=Q14451-2; Sequence=VSP_035500, VSP_035501; Name=3; IsoId=Q14451-3; Sequence=VSP_041665; Note=Ref.5 (BAG54211) sequence is in conflict in position: 20 C->R. {ECO:0000305}; Name=4; IsoId=Q14451-4; Sequence=VSP_041666; # AltName GRB7_HUMAN B47 # AltName GRB7_HUMAN Epidermal growth factor receptor GRB-7 # AltName GRB7_HUMAN GRB7 adapter protein # BioGrid 109143 37 # CCDS CCDS11345 -. [Q14451-1] # CCDS CCDS56028 -. [Q14451-3] # CCDS CCDS82116 -. [Q14451-2] # DOMAIN GRB7_HUMAN The PH domain mediates interaction with membranes containing phosphoinositides. {ECO 0000269|PubMed 12021278}. # Ensembl ENST00000309156 ENSP00000310771; ENSG00000141738. [Q14451-1] # Ensembl ENST00000394204 ENSP00000377754; ENSG00000141738. [Q14451-2] # Ensembl ENST00000394209 ENSP00000377759; ENSG00000141738. [Q14451-1] # Ensembl ENST00000394211 ENSP00000377761; ENSG00000141738. [Q14451-1] # Ensembl ENST00000445327 ENSP00000403459; ENSG00000141738. [Q14451-3] # ExpressionAtlas Q14451 baseline and differential # FUNCTION GRB7_HUMAN Adapter protein that interacts with the cytoplasmic domain of numerous receptor kinases and modulates down-stream signaling. Promotes activation of down-stream protein kinases, including STAT3, AKT1, MAPK1 and/or MAPK3. Promotes activation of HRAS. Plays a role in signal transduction in response to EGF. Plays a role in the regulation of cell proliferation and cell migration. Plays a role in the assembly and stability of RNA stress granules. Binds to the 5'UTR of target mRNA molecules and represses translation of target mRNA species, when not phosphorylated. Phosphorylation impairs RNA binding and promotes stress granule disassembly during recovery after cellular stress (By similarity). {ECO 0000250, ECO 0000269|PubMed 10893408, ECO 0000269|PubMed 12021278, ECO 0000269|PubMed 12223469, ECO 0000269|PubMed 20622016}. # GO_component GO:0005829 cytosol; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0005925 focal adhesion; IDA:UniProtKB. # GO_component GO:0010494 cytoplasmic stress granule; ISS:UniProtKB. # GO_component GO:0042995 cell projection; IEA:UniProtKB-SubCell. # GO_function GO:0003723 RNA binding; IEA:UniProtKB-KW. # GO_function GO:0005070 SH3/SH2 adaptor activity; TAS:ProtInc. # GO_function GO:0019901 protein kinase binding; IDA:UniProtKB. # GO_function GO:0035091 phosphatidylinositol binding; IDA:UniProtKB. # GO_process GO:0007173 epidermal growth factor receptor signaling pathway; TAS:ProtInc. # GO_process GO:0017148 negative regulation of translation; ISS:UniProtKB. # GO_process GO:0030335 positive regulation of cell migration; IDA:UniProtKB. # GO_process GO:0034063 stress granule assembly; ISS:UniProtKB. # GO_process GO:0038128 ERBB2 signaling pathway; TAS:Reactome. # GO_process GO:0050900 leukocyte migration; 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_function GO:0003723 RNA binding # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0030674 protein binding, bridging # 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 # GOslim_process GO:0022618 ribonucleoprotein complex assembly # GOslim_process GO:0048870 cell motility # Gene3D 2.30.29.30 -; 1. # Gene3D 3.30.505.10 -; 1. # Genevisible Q14451 HS # HGNC HGNC:4567 GRB7 # INTERACTION GRB7_HUMAN Self; NbExp=2; IntAct=EBI-970191, EBI-970191; P10275 AR; NbExp=3; IntAct=EBI-970191, EBI-608057; P62157 CALM (xeno); NbExp=2; IntAct=EBI-970191, EBI-397403; P62161 Calm3 (xeno); NbExp=9; IntAct=EBI-970191, EBI-397530; P54762 EPHB1; NbExp=4; IntAct=EBI-970191, EBI-80252; P04626 ERBB2; NbExp=5; IntAct=EBI-970191, EBI-641062; P21860 ERBB3; NbExp=7; IntAct=EBI-970191, EBI-720706; O00165 HAX1; NbExp=2; IntAct=EBI-970191, EBI-357001; Q8NC69 KCTD6; NbExp=3; IntAct=EBI-970191, EBI-2511344; P10721 KIT; NbExp=4; IntAct=EBI-970191, EBI-1379503; Q8IWV1 LAX1; NbExp=3; IntAct=EBI-970191, EBI-10232942; Q8TAK6 OLIG1; NbExp=3; IntAct=EBI-970191, EBI-3867416; P09619 PDGFRB; NbExp=4; IntAct=EBI-970191, EBI-641237; Q05397 PTK2; NbExp=3; IntAct=EBI-970191, EBI-702142; Q92730 RND1; NbExp=4; IntAct=EBI-970191, EBI-448618; Q9NQ86 TRIM36; NbExp=3; IntAct=EBI-970191, EBI-2341518; # IntAct Q14451 48 # InterPro IPR000159 RA_dom # InterPro IPR000980 SH2 # InterPro IPR001849 PH_domain # InterPro IPR011993 PH_dom-like # InterPro IPR015042 BPS-dom # InterPro IPR029071 Ubiquitin-rel_dom # MIM 601522 gene # Organism GRB7_HUMAN Homo sapiens (Human) # PDB 1MW4 NMR; -; A=415-532 # PDB 1WGR NMR; -; A=100-186 # PDB 2L4K NMR; -; A=415-532 # PDB 2QMS X-ray; 2.10 A; A/B/C/D=415-532 # PDB 3PQZ X-ray; 2.41 A; A/B/C/D=416-532 # PDB 4WWQ X-ray; 1.80 A; A/B=415-532 # PDB 4X6S X-ray; 2.55 A; A/B=423-529 # PDB 5D0J X-ray; 2.60 A; A/B/C/D=415-532 # PDB 5EEL X-ray; 2.47 A; A/B/C/D/E/F=415-532 # PDB 5EEQ X-ray; 1.60 A; A/B=415-532 # PIR JC5412 JC5412 # PRINTS PR00401 SH2DOMAIN # PROSITE PS50001 SH2 # PROSITE PS50003 PH_DOMAIN # PROSITE PS50200 RA # PTM GRB7_HUMAN Phosphorylated on serine and threonine residues in response to heregulin. Phosphorylated on tyrosine residues by TEK/TIE2. Phosphorylated on tyrosine residues in response to NTN1 signaling. Phosphorylation promotes stress granule disassembly during recovery after cellular stress (By similarity). Phosphorylated on tyrosine residues by PTK2/FAK1, and possibly also other kinases. Phosphorylation is enhanced by activation of receptor kinases. Tyrosine phosphorylation is essential for activation of down- stream protein kinases. {ECO 0000250, ECO 0000269|PubMed 10893408, ECO 0000269|PubMed 12223469, ECO 0000269|PubMed 19473962, ECO 0000269|PubMed 20622016}. # Pfam PF00017 SH2 # Pfam PF00169 PH # Pfam PF00788 RA # Pfam PF08947 BPS # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-1306955 GRB7 events in ERBB2 signaling # Reactome R-HSA-1433557 Signaling by SCF-KIT # Reactome R-HSA-186763 Downstream signal transduction # Reactome R-HSA-210993 Tie2 Signaling # Reactome R-HSA-8853659 RET signaling # RecName GRB7_HUMAN Growth factor receptor-bound protein 7 # RefSeq NP_001025173 NM_001030002.2. [Q14451-1] # RefSeq NP_001229371 NM_001242442.1 # RefSeq NP_001229372 NM_001242443.1. [Q14451-1] # RefSeq NP_001317136 NM_001330207.1 # RefSeq NP_005301 NM_005310.3. [Q14451-1] # SIMILARITY Belongs to the GRB7/10/14 family. {ECO 0000305}. # SIMILARITY Contains 1 PH domain. {ECO:0000255|PROSITE- ProRule PRU00145}. # SIMILARITY Contains 1 Ras-associating domain. {ECO:0000255|PROSITE-ProRule PRU00166}. # SIMILARITY Contains 1 SH2 domain. {ECO:0000255|PROSITE- ProRule PRU00191}. # SMART SM00233 PH # SMART SM00252 SH2 # SMART SM00314 RA # SUBCELLULAR LOCATION GRB7_HUMAN Cytoplasm {ECO 0000269|PubMed 10893408, ECO 0000269|PubMed 12021278, ECO 0000269|PubMed 18853468}. Cell junction, focal adhesion {ECO 0000269|PubMed 10893408, ECO 0000269|PubMed 12021278}. Cell membrane; Peripheral membrane protein; Cytoplasmic side {ECO 0000269|PubMed 10893408, ECO 0000269|PubMed 12021278, ECO 0000269|PubMed 18853468}. Cytoplasmic granule {ECO 0000250|UniProtKB Q03160}. Cell projection {ECO 0000269|PubMed 18853468}. Note=Predominantly cytoplasmic. Detected in stress granules, where mRNA is stored under stress conditions. {ECO 0000250|UniProtKB Q03160}. # SUBUNIT Homodimer. Interacts (via SH2 domain) with EGFR, ERBB2, ERBB3 (when phosphorylated), ERBB4 (when phosphorylated), EPHB1, INSR, FGFR1, PDGFRA (tyrosine phosphorylated) and PDGFRB (tyrosine phosphorylated). Interacts with SHC1. Interacts with RND1. Interacts (when tyrosine phosphorylated) with FHL2 and HAX1 (By similarity). Interacts (via SH2 domain) with RET and PTK2/FAK1. Interacts (when not phosphorylated) with ELAVL1. In stressed cells, but not in normal cells, part of a complex that contains at least GRB7, PTK2/FAK1, STAU1, ELAVL1 and TIA1. Interacts (via SH2 domain) with KIT (phosphorylated). Interacts (via SH2 domain) with TEK/TIE2 (tyrosine phosphorylated) (By similarity). {ECO 0000250}. # SUPFAM SSF50729 SSF50729 # SUPFAM SSF54236 SSF54236 # SUPFAM SSF55550 SSF55550 # UCSC uc002hsr human. [Q14451-1] # eggNOG ENOG410XXC8 LUCA # eggNOG KOG3751 Eukaryota BLAST swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GRB7_HUMAN BioCyc ZFISH:ENSG00000141738-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000141738-MONOMER COXPRESdb 2886 http://coxpresdb.jp/data/gene/2886.shtml CleanEx HS_GRB7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GRB7 DIP DIP-502N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-502N DOI 10.1002/jmr.1062 http://dx.doi.org/10.1002/jmr.1062 DOI 10.1002/jmr.916 http://dx.doi.org/10.1002/jmr.916 DOI 10.1006/bbrc.1997.6218 http://dx.doi.org/10.1006/bbrc.1997.6218 DOI 10.1007/s00018-004-4189-6 http://dx.doi.org/10.1007/s00018-004-4189-6 DOI 10.1007/s00249-005-0480-1 http://dx.doi.org/10.1007/s00249-005-0480-1 DOI 10.1016/S0014-5793(99)01530-6 http://dx.doi.org/10.1016/S0014-5793(99)01530-6 DOI 10.1016/j.bbrc.2005.08.055 http://dx.doi.org/10.1016/j.bbrc.2005.08.055 DOI 10.1023/A:1025498409113 http://dx.doi.org/10.1023/A:1025498409113 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.onc.1203469 http://dx.doi.org/10.1038/sj.onc.1203469 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.273.13.7717 http://dx.doi.org/10.1074/jbc.273.13.7717 DOI 10.1074/jbc.C110.114124 http://dx.doi.org/10.1074/jbc.C110.114124 DOI 10.1074/jbc.M001997200 http://dx.doi.org/10.1074/jbc.M001997200 DOI 10.1074/jbc.M109.018259 http://dx.doi.org/10.1074/jbc.M109.018259 DOI 10.1074/jbc.M203085200 http://dx.doi.org/10.1074/jbc.M203085200 DOI 10.1074/jbc.M203165200 http://dx.doi.org/10.1074/jbc.M203165200 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI2921 http://dx.doi.org/10.1172/JCI2921 DOI 10.1186/1472-6807-7-58 http://dx.doi.org/10.1186/1472-6807-7-58 EMBL AB008789 http://www.ebi.ac.uk/ena/data/view/AB008789 EMBL AB008790 http://www.ebi.ac.uk/ena/data/view/AB008790 EMBL AC079199 http://www.ebi.ac.uk/ena/data/view/AC079199 EMBL AF274875 http://www.ebi.ac.uk/ena/data/view/AF274875 EMBL AK027729 http://www.ebi.ac.uk/ena/data/view/AK027729 EMBL AK125544 http://www.ebi.ac.uk/ena/data/view/AK125544 EMBL AK222849 http://www.ebi.ac.uk/ena/data/view/AK222849 EMBL AK222870 http://www.ebi.ac.uk/ena/data/view/AK222870 EMBL AK290115 http://www.ebi.ac.uk/ena/data/view/AK290115 EMBL AK314368 http://www.ebi.ac.uk/ena/data/view/AK314368 EMBL BC006535 http://www.ebi.ac.uk/ena/data/view/BC006535 EMBL BT006686 http://www.ebi.ac.uk/ena/data/view/BT006686 EMBL CH471152 http://www.ebi.ac.uk/ena/data/view/CH471152 EMBL CH471152 http://www.ebi.ac.uk/ena/data/view/CH471152 EMBL D43772 http://www.ebi.ac.uk/ena/data/view/D43772 EMBL D87513 http://www.ebi.ac.uk/ena/data/view/D87513 Ensembl ENST00000309156 http://www.ensembl.org/id/ENST00000309156 Ensembl ENST00000394204 http://www.ensembl.org/id/ENST00000394204 Ensembl ENST00000394209 http://www.ensembl.org/id/ENST00000394209 Ensembl ENST00000394211 http://www.ensembl.org/id/ENST00000394211 Ensembl ENST00000445327 http://www.ensembl.org/id/ENST00000445327 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:0005925 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005925 GO_component GO:0010494 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010494 GO_component GO:0042995 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042995 GO_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GO_function GO:0005070 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005070 GO_function GO:0019901 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019901 GO_function GO:0035091 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035091 GO_process GO:0007173 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007173 GO_process GO:0017148 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017148 GO_process GO:0030335 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030335 GO_process GO:0034063 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034063 GO_process GO:0038128 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0038128 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: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:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 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: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: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 GOslim_process GO:0022618 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022618 GOslim_process GO:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 Gene3D 2.30.29.30 http://www.cathdb.info/version/latest/superfamily/2.30.29.30 Gene3D 3.30.505.10 http://www.cathdb.info/version/latest/superfamily/3.30.505.10 GeneCards GRB7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GRB7 GeneID 2886 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2886 GeneTree ENSGT00550000074537 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074537 HGNC HGNC:4567 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4567 HOVERGEN HBG000468 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000468&db=HOVERGEN HPA CAB005226 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB005226 HPA CAB073538 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB073538 HPA HPA057084 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057084 InParanoid Q14451 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14451 IntAct Q14451 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14451* InterPro IPR000159 http://www.ebi.ac.uk/interpro/entry/IPR000159 InterPro IPR000980 http://www.ebi.ac.uk/interpro/entry/IPR000980 InterPro IPR001849 http://www.ebi.ac.uk/interpro/entry/IPR001849 InterPro IPR011993 http://www.ebi.ac.uk/interpro/entry/IPR011993 InterPro IPR015042 http://www.ebi.ac.uk/interpro/entry/IPR015042 InterPro IPR029071 http://www.ebi.ac.uk/interpro/entry/IPR029071 Jabion 2886 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2886 KEGG_Gene hsa:2886 http://www.genome.jp/dbget-bin/www_bget?hsa:2886 MIM 601522 http://www.ncbi.nlm.nih.gov/omim/601522 MINT MINT-1492212 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1492212 OMA VQAAWPI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VQAAWPI OrthoDB EOG091G135G http://cegg.unige.ch/orthodb/results?searchtext=EOG091G135G PDB 1MW4 http://www.ebi.ac.uk/pdbe-srv/view/entry/1MW4 PDB 1WGR http://www.ebi.ac.uk/pdbe-srv/view/entry/1WGR PDB 2L4K http://www.ebi.ac.uk/pdbe-srv/view/entry/2L4K PDB 2QMS http://www.ebi.ac.uk/pdbe-srv/view/entry/2QMS PDB 3PQZ http://www.ebi.ac.uk/pdbe-srv/view/entry/3PQZ PDB 4WWQ http://www.ebi.ac.uk/pdbe-srv/view/entry/4WWQ PDB 4X6S http://www.ebi.ac.uk/pdbe-srv/view/entry/4X6S PDB 5D0J http://www.ebi.ac.uk/pdbe-srv/view/entry/5D0J PDB 5EEL http://www.ebi.ac.uk/pdbe-srv/view/entry/5EEL PDB 5EEQ http://www.ebi.ac.uk/pdbe-srv/view/entry/5EEQ PDBsum 1MW4 http://www.ebi.ac.uk/pdbsum/1MW4 PDBsum 1WGR http://www.ebi.ac.uk/pdbsum/1WGR PDBsum 2L4K http://www.ebi.ac.uk/pdbsum/2L4K PDBsum 2QMS http://www.ebi.ac.uk/pdbsum/2QMS PDBsum 3PQZ http://www.ebi.ac.uk/pdbsum/3PQZ PDBsum 4WWQ http://www.ebi.ac.uk/pdbsum/4WWQ PDBsum 4X6S http://www.ebi.ac.uk/pdbsum/4X6S PDBsum 5D0J http://www.ebi.ac.uk/pdbsum/5D0J PDBsum 5EEL http://www.ebi.ac.uk/pdbsum/5EEL PDBsum 5EEQ http://www.ebi.ac.uk/pdbsum/5EEQ PRINTS PR00401 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00401 PROSITE PS50001 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50001 PROSITE PS50003 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50003 PROSITE PS50200 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50200 PSORT swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GRB7_HUMAN PSORT-B swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GRB7_HUMAN PSORT2 swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GRB7_HUMAN Pfam PF00017 http://pfam.xfam.org/family/PF00017 Pfam PF00169 http://pfam.xfam.org/family/PF00169 Pfam PF00788 http://pfam.xfam.org/family/PF00788 Pfam PF08947 http://pfam.xfam.org/family/PF08947 PharmGKB PA28963 http://www.pharmgkb.org/do/serve?objId=PA28963&objCls=Gene Phobius swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GRB7_HUMAN PhylomeDB Q14451 http://phylomedb.org/?seqid=Q14451 ProteinModelPortal Q14451 http://www.proteinmodelportal.org/query/uniprot/Q14451 PubMed 10664463 http://www.ncbi.nlm.nih.gov/pubmed/10664463 PubMed 10803466 http://www.ncbi.nlm.nih.gov/pubmed/10803466 PubMed 10893408 http://www.ncbi.nlm.nih.gov/pubmed/10893408 PubMed 12021278 http://www.ncbi.nlm.nih.gov/pubmed/12021278 PubMed 12223469 http://www.ncbi.nlm.nih.gov/pubmed/12223469 PubMed 12975581 http://www.ncbi.nlm.nih.gov/pubmed/12975581 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15526160 http://www.ncbi.nlm.nih.gov/pubmed/15526160 PubMed 15841400 http://www.ncbi.nlm.nih.gov/pubmed/15841400 PubMed 16129412 http://www.ncbi.nlm.nih.gov/pubmed/16129412 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 17894853 http://www.ncbi.nlm.nih.gov/pubmed/17894853 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18853468 http://www.ncbi.nlm.nih.gov/pubmed/18853468 PubMed 19473962 http://www.ncbi.nlm.nih.gov/pubmed/19473962 PubMed 20622016 http://www.ncbi.nlm.nih.gov/pubmed/20622016 PubMed 20665473 http://www.ncbi.nlm.nih.gov/pubmed/20665473 PubMed 8988034 http://www.ncbi.nlm.nih.gov/pubmed/8988034 PubMed 9125150 http://www.ncbi.nlm.nih.gov/pubmed/9125150 PubMed 9516479 http://www.ncbi.nlm.nih.gov/pubmed/9516479 PubMed 9710451 http://www.ncbi.nlm.nih.gov/pubmed/9710451 Reactome R-HSA-1306955 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1306955 Reactome R-HSA-1433557 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1433557 Reactome R-HSA-186763 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-186763 Reactome R-HSA-210993 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-210993 Reactome R-HSA-8853659 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8853659 RefSeq NP_001025173 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001025173 RefSeq NP_001229371 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229371 RefSeq NP_001229372 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001229372 RefSeq NP_001317136 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001317136 RefSeq NP_005301 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005301 SMART SM00233 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00233 SMART SM00252 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00252 SMART SM00314 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00314 SMR Q14451 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14451 STRING 9606.ENSP00000403459 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000403459&targetmode=cogs 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 SSF55550 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55550 UCSC uc002hsr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002hsr&org=rat UniGene Hs.86859 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.86859 UniProtKB GRB7_HUMAN http://www.uniprot.org/uniprot/GRB7_HUMAN UniProtKB-AC Q14451 http://www.uniprot.org/uniprot/Q14451 charge swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GRB7_HUMAN eggNOG ENOG410XXC8 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XXC8 eggNOG KOG3751 http://eggnogapi.embl.de/nog_data/html/tree/KOG3751 epestfind swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GRB7_HUMAN garnier swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GRB7_HUMAN helixturnhelix swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GRB7_HUMAN hmoment swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GRB7_HUMAN iep swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GRB7_HUMAN inforesidue swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GRB7_HUMAN neXtProt NX_Q14451 http://www.nextprot.org/db/entry/NX_Q14451 octanol swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GRB7_HUMAN pepcoil swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GRB7_HUMAN pepdigest swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GRB7_HUMAN pepinfo swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GRB7_HUMAN pepnet swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GRB7_HUMAN pepstats swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GRB7_HUMAN pepwheel swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GRB7_HUMAN pepwindow swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GRB7_HUMAN sigcleave swissprot:GRB7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GRB7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ST3L3_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P0CL85-1; Sequence=Displayed; Name=2; IsoId=P0CL85-2; Sequence=VSP_041016; # AltName ST3L3_HUMAN Stromal antigen 3-like protein 3 # ChiTaRS STAG3L3 human # GO_component GO:0005634 nucleus; IEA:UniProtKB-SubCell. # GOslim_component GO:0005634 nucleus # HGNC HGNC:33845 STAG3L3 # InterPro IPR016024 ARM-type_fold # InterPro IPR020839 SCD # Organism ST3L3_HUMAN Homo sapiens (Human) # PROSITE PS51425 SCD # Proteomes UP000005640 Unplaced # RecName ST3L3_HUMAN STAG3-like protein 3 # SIMILARITY Belongs to the SCC3 family. {ECO 0000305}. # SIMILARITY Contains 1 SCD (stromalin conservative) domain. {ECO:0000255|PROSITE-ProRule PRU00750}. # SUBCELLULAR LOCATION ST3L3_HUMAN Nucleus {ECO 0000255|PROSITE- ProRule PRU00750}. # SUPFAM SSF48371 SSF48371 # eggNOG COG5537 LUCA # eggNOG KOG2011 Eukaryota BLAST swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ST3L3_HUMAN 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 AC005488 http://www.ebi.ac.uk/ena/data/view/AC005488 EMBL AY313779 http://www.ebi.ac.uk/ena/data/view/AY313779 EMBL BC066937 http://www.ebi.ac.uk/ena/data/view/BC066937 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 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GeneCards STAG3L3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=STAG3L3 HGNC HGNC:33845 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:33845 InParanoid P0CL85 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P0CL85 InterPro IPR016024 http://www.ebi.ac.uk/interpro/entry/IPR016024 InterPro IPR020839 http://www.ebi.ac.uk/interpro/entry/IPR020839 PROSITE PS51425 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51425 PSORT swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ST3L3_HUMAN PSORT-B swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ST3L3_HUMAN PSORT2 swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ST3L3_HUMAN Phobius swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ST3L3_HUMAN ProteinModelPortal P0CL85 http://www.proteinmodelportal.org/query/uniprot/P0CL85 PubMed 12853948 http://www.ncbi.nlm.nih.gov/pubmed/12853948 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 SMR P0CL85 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P0CL85 STRING 9606.ENSP00000312329 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000312329&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UniGene Hs.632310 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632310 UniGene Hs.661254 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.661254 UniProtKB ST3L3_HUMAN http://www.uniprot.org/uniprot/ST3L3_HUMAN UniProtKB-AC P0CL85 http://www.uniprot.org/uniprot/P0CL85 charge swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ST3L3_HUMAN eggNOG COG5537 http://eggnogapi.embl.de/nog_data/html/tree/COG5537 eggNOG KOG2011 http://eggnogapi.embl.de/nog_data/html/tree/KOG2011 epestfind swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ST3L3_HUMAN garnier swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ST3L3_HUMAN helixturnhelix swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ST3L3_HUMAN hmoment swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ST3L3_HUMAN iep swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ST3L3_HUMAN inforesidue swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ST3L3_HUMAN neXtProt NX_P0CL85 http://www.nextprot.org/db/entry/NX_P0CL85 octanol swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ST3L3_HUMAN pepcoil swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ST3L3_HUMAN pepdigest swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ST3L3_HUMAN pepinfo swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ST3L3_HUMAN pepnet swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ST3L3_HUMAN pepstats swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ST3L3_HUMAN pepwheel swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ST3L3_HUMAN pepwindow swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ST3L3_HUMAN sigcleave swissprot:ST3L3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ST3L3_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TECT2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96GX1-1; Sequence=Displayed; Name=2; IsoId=Q96GX1-2; Sequence=VSP_042776; Note=No experimental confirmation available.; # BioGrid 122955 273 # CCDS CCDS45007 -. [Q96GX1-2] # CCDS CCDS9253 -. [Q96GX1-1] # ChiTaRS TCTN2 human # DISEASE TECT2_HUMAN Joubert syndrome 24 (JBTS24) [MIM 616654] A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. {ECO 0000269|PubMed 21565611, ECO 0000269|PubMed 25118024}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE TECT2_HUMAN Meckel syndrome 8 (MKS8) [MIM 613885] A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO 0000269|PubMed 21462283}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000303372 ENSP00000304941; ENSG00000168778. [Q96GX1-1] # Ensembl ENST00000426174 ENSP00000395171; ENSG00000168778. [Q96GX1-2] # ExpressionAtlas Q96GX1 baseline and differential # FUNCTION TECT2_HUMAN Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity). {ECO 0000250}. # GO_component GO:0005737 cytoplasm; IEA:UniProtKB-KW. # GO_component GO:0005856 cytoskeleton; IEA:UniProtKB-KW. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0036038 MKS complex; ISS:UniProtKB. # GO_component GO:0060170 ciliary membrane; TAS:Reactome. # GO_process GO:0007224 smoothened signaling pathway; ISS:UniProtKB. # GO_process GO:0042384 cilium assembly; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0043234 protein complex # GOslim_process GO:0007165 signal transduction # Genevisible Q96GX1 HS # HGNC HGNC:25774 TCTN2 # IntAct Q96GX1 203 # InterPro IPR011677 DUF1619 # KEGG_Disease H00261 [Nervous system disease; Kidney disease] Meckel-Gruber syndrome # MIM 613846 gene # MIM 613885 phenotype # MIM 616654 phenotype # Organism TECT2_HUMAN Homo sapiens (Human) # Orphanet 475 Joubert syndrome # Orphanet 564 Meckel syndrome # Pfam PF07773 DUF1619 # Proteomes UP000005640 Chromosome 12 # Reactome R-HSA-5620912 Anchoring of the basal body to the plasma membrane # RecName TECT2_HUMAN Tectonic-2 # RefSeq NP_001137322 NM_001143850.2. [Q96GX1-2] # RefSeq NP_079085 NM_024809.4. [Q96GX1-1] # SEQUENCE CAUTION Sequence=BAB14370.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the tectonic family. {ECO 0000305}. # SUBCELLULAR LOCATION TECT2_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. Cytoplasm, cytoskeleton, cilium basal body {ECO 0000250}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO 0000250}. # SUBUNIT Part of the tectonic-like complex (also named B9 complex). {ECO 0000250}. # UCSC uc001ufp human. [Q96GX1-1] # eggNOG ENOG410IJPP Eukaryota # eggNOG ENOG4111MZ0 LUCA BLAST swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TECT2_HUMAN COXPRESdb 79867 http://coxpresdb.jp/data/gene/79867.shtml CleanEx HS_TCTN2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TCTN2 DOI 10.1002/humu.21507 http://dx.doi.org/10.1002/humu.21507 DOI 10.1016/j.cell.2011.04.019 http://dx.doi.org/10.1016/j.cell.2011.04.019 DOI 10.1038/ejhg.2014.160 http://dx.doi.org/10.1038/ejhg.2014.160 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/gad.1363606 http://dx.doi.org/10.1101/gad.1363606 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AC117503 http://www.ebi.ac.uk/ena/data/view/AC117503 EMBL AK023037 http://www.ebi.ac.uk/ena/data/view/AK023037 EMBL AK056924 http://www.ebi.ac.uk/ena/data/view/AK056924 EMBL AK292153 http://www.ebi.ac.uk/ena/data/view/AK292153 EMBL BC009112 http://www.ebi.ac.uk/ena/data/view/BC009112 EMBL CH471054 http://www.ebi.ac.uk/ena/data/view/CH471054 EMBL DQ278870 http://www.ebi.ac.uk/ena/data/view/DQ278870 Ensembl ENST00000303372 http://www.ensembl.org/id/ENST00000303372 Ensembl ENST00000426174 http://www.ensembl.org/id/ENST00000426174 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:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_component GO:0036038 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036038 GO_component GO:0060170 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060170 GO_process GO:0007224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007224 GO_process GO:0042384 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042384 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:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_process GO:0007165 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165 GeneCards TCTN2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TCTN2 GeneID 79867 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79867 GeneTree ENSGT00730000111238 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111238 HGNC HGNC:25774 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25774 HOGENOM HOG000013148 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000013148&db=HOGENOM6 HOVERGEN HBG083562 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG083562&db=HOVERGEN HPA HPA039900 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039900 InParanoid Q96GX1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96GX1 IntAct Q96GX1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96GX1* InterPro IPR011677 http://www.ebi.ac.uk/interpro/entry/IPR011677 Jabion 79867 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79867 KEGG_Disease H00261 http://www.genome.jp/dbget-bin/www_bget?H00261 KEGG_Gene hsa:79867 http://www.genome.jp/dbget-bin/www_bget?hsa:79867 MIM 613846 http://www.ncbi.nlm.nih.gov/omim/613846 MIM 613885 http://www.ncbi.nlm.nih.gov/omim/613885 MIM 616654 http://www.ncbi.nlm.nih.gov/omim/616654 OMA GDVNPPF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=GDVNPPF Orphanet 475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=475 Orphanet 564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=564 OrthoDB EOG091G0LKM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0LKM PSORT swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TECT2_HUMAN PSORT-B swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TECT2_HUMAN PSORT2 swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TECT2_HUMAN Pfam PF07773 http://pfam.xfam.org/family/PF07773 PharmGKB PA162405472 http://www.pharmgkb.org/do/serve?objId=PA162405472&objCls=Gene Phobius swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TECT2_HUMAN PhylomeDB Q96GX1 http://phylomedb.org/?seqid=Q96GX1 ProteinModelPortal Q96GX1 http://www.proteinmodelportal.org/query/uniprot/Q96GX1 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16357211 http://www.ncbi.nlm.nih.gov/pubmed/16357211 PubMed 16541075 http://www.ncbi.nlm.nih.gov/pubmed/16541075 PubMed 21462283 http://www.ncbi.nlm.nih.gov/pubmed/21462283 PubMed 21565611 http://www.ncbi.nlm.nih.gov/pubmed/21565611 PubMed 25118024 http://www.ncbi.nlm.nih.gov/pubmed/25118024 Reactome R-HSA-5620912 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5620912 RefSeq NP_001137322 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001137322 RefSeq NP_079085 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_079085 SMR Q96GX1 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96GX1 STRING 9606.ENSP00000304941 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000304941&targetmode=cogs UCSC uc001ufp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ufp&org=rat UniGene Hs.167165 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.167165 UniProtKB TECT2_HUMAN http://www.uniprot.org/uniprot/TECT2_HUMAN UniProtKB-AC Q96GX1 http://www.uniprot.org/uniprot/Q96GX1 charge swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TECT2_HUMAN eggNOG ENOG410IJPP http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJPP eggNOG ENOG4111MZ0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111MZ0 epestfind swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TECT2_HUMAN garnier swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TECT2_HUMAN helixturnhelix swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TECT2_HUMAN hmoment swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TECT2_HUMAN iep swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TECT2_HUMAN inforesidue swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TECT2_HUMAN neXtProt NX_Q96GX1 http://www.nextprot.org/db/entry/NX_Q96GX1 octanol swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TECT2_HUMAN pepcoil swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TECT2_HUMAN pepdigest swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TECT2_HUMAN pepinfo swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TECT2_HUMAN pepnet swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TECT2_HUMAN pepstats swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TECT2_HUMAN pepwheel swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TECT2_HUMAN pepwindow swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TECT2_HUMAN sigcleave swissprot:TECT2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TECT2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS FUCO2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BTY2-1; Sequence=Displayed; Name=2; IsoId=Q9BTY2-2; Sequence=VSP_057004, VSP_057005; Note=No experimental confirmation available.; # AltName FUCO2_HUMAN Alpha-L-fucoside fucohydrolase 2 # BRENDA 3.2.1.51 2681 # BioGrid 108795 12 # CATALYTIC ACTIVITY An alpha-L-fucoside + H(2)O = L-fucose + an alcohol. {ECO:0000255|PROSITE-ProRule PRU10054}. # CAZy GH29 Glycoside Hydrolase Family 29 # CCDS CCDS5200 -. [Q9BTY2-1] # ChiTaRS FUCA2 human # Ensembl ENST00000002165 ENSP00000002165; ENSG00000001036. [Q9BTY2-1] # ExpressionAtlas Q9BTY2 baseline and differential # FUNCTION FUCO2_HUMAN Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N- acetylglucosamine of the carbohydrate moieties of glycoproteins. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004560 alpha-L-fucosidase activity; IDA:UniProtKB. # GO_process GO:0006004 fucose metabolic process; IDA:UniProtKB. # GO_process GO:0009617 response to bacterium; IMP:UniProtKB. # GO_process GO:0016139 glycoside catabolic process; IDA:UniProtKB. # GO_process GO:2000535 regulation of entry of bacterium into host cell; IMP:UniProtKB. # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0043226 organelle # GOslim_function GO:0016798 hydrolase activity, acting on glycosyl bonds # GOslim_process GO:0005975 carbohydrate metabolic process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009056 catabolic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 2.60.40.1180 -; 1. # Gene3D 3.20.20.80 -; 1. # Genevisible Q9BTY2 HS # HGNC HGNC:4008 FUCA2 # INTERACTION FUCO2_HUMAN A4D127 MEOX2; NbExp=3; IntAct=EBI-9050116, EBI-10172134; # IntAct Q9BTY2 2 # InterPro IPR000933 Glyco_hydro_29 # InterPro IPR013780 Glyco_hydro_b # InterPro IPR013781 Glyco_hydro_catalytic_dom # InterPro IPR016286 FUC_metazoa-typ # InterPro IPR017853 Glycoside_hydrolase_SF # InterPro IPR018526 Glyco_hydro_29_CS # InterPro IPR031919 Fucosidase_C # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00511 Other glycan degradation # MIM 136820 gene+phenotype # Organism FUCO2_HUMAN Homo sapiens (Human) # PANTHER PTHR10030 PTHR10030 # PIRSF PIRSF001092 Alpha-L-fucosidase # PRINTS PR00741 GLHYDRLASE29 # PROSITE PS00385 ALPHA_L_FUCOSIDASE # Pfam PF01120 Alpha_L_fucos # Pfam PF16757 Fucosidase_C # Proteomes UP000005640 Chromosome 6 # Reactome R-HSA-6798695 Neutrophil degranulation # RecName FUCO2_HUMAN Plasma alpha-L-fucosidase # RefSeq NP_114409 NM_032020.4. [Q9BTY2-1] # SIMILARITY Belongs to the glycosyl hydrolase 29 family. {ECO 0000305}. # SMART SM00812 Alpha_L_fucos # SUBCELLULAR LOCATION FUCO2_HUMAN Secreted {ECO 0000305}. # SUBUNIT Homotetramer. {ECO 0000250}. # SUPFAM SSF51445 SSF51445 # UCSC uc003qjm human. [Q9BTY2-1] # eggNOG COG3669 LUCA # eggNOG KOG3340 Eukaryota BLAST swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:FUCO2_HUMAN BioCyc ZFISH:HS00070-MONOMER http://biocyc.org/getid?id=ZFISH:HS00070-MONOMER COG COG3669 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG3669 COXPRESdb 2519 http://coxpresdb.jp/data/gene/2519.shtml CleanEx HS_FUCA2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FUCA2 DOI 10.1016/j.cell.2015.05.028 http://dx.doi.org/10.1016/j.cell.2015.05.028 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 10.1093/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 EC_number EC:3.2.1.51 http://www.genome.jp/dbget-bin/www_bget?EC:3.2.1.51 EMBL AK075458 http://www.ebi.ac.uk/ena/data/view/AK075458 EMBL AK296485 http://www.ebi.ac.uk/ena/data/view/AK296485 EMBL AL031320 http://www.ebi.ac.uk/ena/data/view/AL031320 EMBL AY358551 http://www.ebi.ac.uk/ena/data/view/AY358551 EMBL BC003060 http://www.ebi.ac.uk/ena/data/view/BC003060 EMBL BC051268 http://www.ebi.ac.uk/ena/data/view/BC051268 ENZYME 3.2.1.51 http://enzyme.expasy.org/EC/3.2.1.51 Ensembl ENST00000002165 http://www.ensembl.org/id/ENST00000002165 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:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004560 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004560 GO_process GO:0006004 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006004 GO_process GO:0009617 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009617 GO_process GO:0016139 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016139 GO_process GO:2000535 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000535 GOslim_component GO:0005615 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005615 GOslim_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_function GO:0016798 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016798 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: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 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 FUCA2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=FUCA2 GeneID 2519 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2519 GeneTree ENSGT00440000035378 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00440000035378 H-InvDB HIX0006268 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0006268 HGNC HGNC:4008 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4008 HOGENOM HOG000146429 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000146429&db=HOGENOM6 HOVERGEN HBG002155 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG002155&db=HOVERGEN HPA HPA031659 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031659 HPA HPA031660 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031660 HPA HPA031661 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA031661 InParanoid Q9BTY2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BTY2 IntAct Q9BTY2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BTY2* IntEnz 3.2.1.51 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.2.1.51 InterPro IPR000933 http://www.ebi.ac.uk/interpro/entry/IPR000933 InterPro IPR013780 http://www.ebi.ac.uk/interpro/entry/IPR013780 InterPro IPR013781 http://www.ebi.ac.uk/interpro/entry/IPR013781 InterPro IPR016286 http://www.ebi.ac.uk/interpro/entry/IPR016286 InterPro IPR017853 http://www.ebi.ac.uk/interpro/entry/IPR017853 InterPro IPR018526 http://www.ebi.ac.uk/interpro/entry/IPR018526 InterPro IPR031919 http://www.ebi.ac.uk/interpro/entry/IPR031919 Jabion 2519 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2519 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:2519 http://www.genome.jp/dbget-bin/www_bget?hsa:2519 KEGG_Orthology KO:K01206 http://www.genome.jp/dbget-bin/www_bget?KO:K01206 KEGG_Pathway ko00511 http://www.genome.jp/kegg-bin/show_pathway?ko00511 MIM 136820 http://www.ncbi.nlm.nih.gov/omim/136820 MINT MINT-7034547 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-7034547 OMA WNWNAID http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WNWNAID OrthoDB EOG091G085V http://cegg.unige.ch/orthodb/results?searchtext=EOG091G085V PANTHER PTHR10030 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10030 PRINTS PR00741 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00741 PROSITE PS00385 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00385 PSORT swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:FUCO2_HUMAN PSORT-B swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:FUCO2_HUMAN PSORT2 swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:FUCO2_HUMAN Pfam PF01120 http://pfam.xfam.org/family/PF01120 Pfam PF16757 http://pfam.xfam.org/family/PF16757 PharmGKB PA28424 http://www.pharmgkb.org/do/serve?objId=PA28424&objCls=Gene Phobius swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:FUCO2_HUMAN PhylomeDB Q9BTY2 http://phylomedb.org/?seqid=Q9BTY2 ProteinModelPortal Q9BTY2 http://www.proteinmodelportal.org/query/uniprot/Q9BTY2 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 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 26091039 http://www.ncbi.nlm.nih.gov/pubmed/26091039 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_114409 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_114409 SMART SM00812 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00812 SMR Q9BTY2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BTY2 STRING 9606.ENSP00000002165 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000002165&targetmode=cogs STRING COG3669 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG3669&targetmode=cogs SUPFAM SSF51445 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51445 UCSC uc003qjm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003qjm&org=rat UniGene Hs.17680 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.17680 UniProtKB FUCO2_HUMAN http://www.uniprot.org/uniprot/FUCO2_HUMAN UniProtKB-AC Q9BTY2 http://www.uniprot.org/uniprot/Q9BTY2 charge swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:FUCO2_HUMAN eggNOG COG3669 http://eggnogapi.embl.de/nog_data/html/tree/COG3669 eggNOG KOG3340 http://eggnogapi.embl.de/nog_data/html/tree/KOG3340 epestfind swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:FUCO2_HUMAN garnier swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:FUCO2_HUMAN helixturnhelix swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:FUCO2_HUMAN hmoment swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:FUCO2_HUMAN iep swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:FUCO2_HUMAN inforesidue swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:FUCO2_HUMAN neXtProt NX_Q9BTY2 http://www.nextprot.org/db/entry/NX_Q9BTY2 octanol swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:FUCO2_HUMAN pepcoil swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:FUCO2_HUMAN pepdigest swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:FUCO2_HUMAN pepinfo swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:FUCO2_HUMAN pepnet swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:FUCO2_HUMAN pepstats swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:FUCO2_HUMAN pepwheel swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:FUCO2_HUMAN pepwindow swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:FUCO2_HUMAN sigcleave swissprot:FUCO2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:FUCO2_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000345108 ENSP00000344616; ENSG00000189167 # Ensembl ENST00000533490 ENSP00000437289; ENSG00000189167 # GO_component GO:0005737 cytoplasm; IEA:Ensembl. # GOslim_component GO:0005737 cytoplasm # HGNC HGNC:37116 ZAR1L # InterPro IPR026775 Zar1 # InterPro IPR027377 Znf-3CxxC # Organism ZAR1L_HUMAN Homo sapiens (Human) # PANTHER PTHR31054 PTHR31054 # Pfam PF13695 zf-3CxxC # Proteomes UP000005640 Chromosome 13 # RecName ZAR1L_HUMAN ZAR1-like protein # RefSeq NP_001130043 NM_001136571.1 # SIMILARITY Belongs to the ZAR1 family. {ECO 0000305}. # SMART SM01328 zf-3CxxC # UCSC uc010abc human # eggNOG ENOG410IEKQ Eukaryota # eggNOG ENOG4110E36 LUCA BLAST swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZAR1L_HUMAN BioCyc ZFISH:G66-32162-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32162-MONOMER COXPRESdb 646799 http://coxpresdb.jp/data/gene/646799.shtml 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 AL445212 http://www.ebi.ac.uk/ena/data/view/AL445212 EMBL BC146956 http://www.ebi.ac.uk/ena/data/view/BC146956 EMBL BC146965 http://www.ebi.ac.uk/ena/data/view/BC146965 Ensembl ENST00000345108 http://www.ensembl.org/id/ENST00000345108 Ensembl ENST00000533490 http://www.ensembl.org/id/ENST00000533490 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 GOslim_component GO:0005737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737 GeneCards ZAR1L http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZAR1L GeneID 646799 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=646799 GeneTree ENSGT00390000012305 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012305 HGNC HGNC:37116 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:37116 HOGENOM HOG000108874 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000108874&db=HOGENOM6 HOVERGEN HBG050367 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050367&db=HOVERGEN HPA HPA041319 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041319 InParanoid A6NP61 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=A6NP61 InterPro IPR026775 http://www.ebi.ac.uk/interpro/entry/IPR026775 InterPro IPR027377 http://www.ebi.ac.uk/interpro/entry/IPR027377 Jabion 646799 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=646799 KEGG_Gene hsa:646799 http://www.genome.jp/dbget-bin/www_bget?hsa:646799 OMA SKSHCSC http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SKSHCSC OrthoDB EOG091G090Z http://cegg.unige.ch/orthodb/results?searchtext=EOG091G090Z PANTHER PTHR31054 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31054 PSORT swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZAR1L_HUMAN PSORT-B swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZAR1L_HUMAN PSORT2 swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZAR1L_HUMAN Pfam PF13695 http://pfam.xfam.org/family/PF13695 PharmGKB PA165505636 http://www.pharmgkb.org/do/serve?objId=PA165505636&objCls=Gene Phobius swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZAR1L_HUMAN PhylomeDB A6NP61 http://phylomedb.org/?seqid=A6NP61 ProteinModelPortal A6NP61 http://www.proteinmodelportal.org/query/uniprot/A6NP61 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_001130043 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001130043 SMART SM01328 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01328 STRING 9606.ENSP00000344616 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000344616&targetmode=cogs UCSC uc010abc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010abc&org=rat UniGene Hs.569254 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.569254 UniProtKB ZAR1L_HUMAN http://www.uniprot.org/uniprot/ZAR1L_HUMAN UniProtKB-AC A6NP61 http://www.uniprot.org/uniprot/A6NP61 charge swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZAR1L_HUMAN eggNOG ENOG410IEKQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEKQ eggNOG ENOG4110E36 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110E36 epestfind swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZAR1L_HUMAN garnier swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZAR1L_HUMAN helixturnhelix swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZAR1L_HUMAN hmoment swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZAR1L_HUMAN iep swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZAR1L_HUMAN inforesidue swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZAR1L_HUMAN neXtProt NX_A6NP61 http://www.nextprot.org/db/entry/NX_A6NP61 octanol swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZAR1L_HUMAN pepcoil swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZAR1L_HUMAN pepdigest swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZAR1L_HUMAN pepinfo swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZAR1L_HUMAN pepnet swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZAR1L_HUMAN pepstats swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZAR1L_HUMAN pepwheel swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZAR1L_HUMAN pepwindow swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZAR1L_HUMAN sigcleave swissprot:ZAR1L_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZAR1L_HUMAN ## Database ID URL or Descriptions # AltName SPICE_HUMAN Coiled-coil domain-containing protein 52 # AltName SPICE_HUMAN Spindle and centriole-associated protein # BioGrid 127433 162 # Ensembl ENST00000295872 ENSP00000295872; ENSG00000163611 # ExpressionAtlas Q8N0Z3 baseline and differential # FUNCTION SPICE_HUMAN Regulator required for centriole duplication, for proper bipolar spindle formation and chromosome congression in mitosis. {ECO 0000269|PubMed 20736305}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005813 centrosome; IDA:UniProtKB. # GO_component GO:0005814 centriole; IDA:UniProtKB. # GO_component GO:0005819 spindle; IDA:UniProtKB. # GO_process GO:0046599 regulation of centriole replication; IMP:UniProtKB. # GO_process GO:0051301 cell division; IEA:UniProtKB-KW. # GO_process GO:0051310 metaphase plate congression; IMP:UniProtKB. # GO_process GO:0090307 mitotic spindle assembly; IMP:UniProtKB. # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0043226 organelle # GOslim_process GO:0007010 cytoskeleton organization # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0051301 cell division # Genevisible Q8N0Z3 HS # HGNC HGNC:25083 SPICE1 # INTERACTION SPICE_HUMAN Q66GS9 CEP135; NbExp=4; IntAct=EBI-2361917, EBI-1046993; # IntAct Q8N0Z3 155 # InterPro IPR031387 SPICE1 # KEGG_Brite ko03036 Chromosome # MIM 613447 gene # Organism SPICE_HUMAN Homo sapiens (Human) # Pfam PF15678 SPICE # Proteomes UP000005640 Chromosome 3 # RecName SPICE_HUMAN Spindle and centriole-associated protein 1 # RefSeq NP_653319 NM_144718.3 # RefSeq XP_016861267 XM_017005778.1 # SUBCELLULAR LOCATION SPICE_HUMAN Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO 0000269|PubMed 20736305}. Cytoplasm, cytoskeleton, spindle {ECO 0000269|PubMed 20736305}. # SUBUNIT Interacts with CEP120. {ECO 0000250}. # UCSC uc003eag human # eggNOG ENOG410IJW0 Eukaryota # eggNOG ENOG410YWRG LUCA BLAST swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SPICE_HUMAN BioCyc ZFISH:ENSG00000163611-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000163611-MONOMER COXPRESdb 152185 http://coxpresdb.jp/data/gene/152185.shtml CleanEx HS_CCDC52 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CCDC52 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 10.1073/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 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1242/jcs.069963 http://dx.doi.org/10.1242/jcs.069963 EMBL AL832148 http://www.ebi.ac.uk/ena/data/view/AL832148 EMBL AY099107 http://www.ebi.ac.uk/ena/data/view/AY099107 EMBL BC019232 http://www.ebi.ac.uk/ena/data/view/BC019232 EMBL BC036951 http://www.ebi.ac.uk/ena/data/view/BC036951 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 Ensembl ENST00000295872 http://www.ensembl.org/id/ENST00000295872 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:0005813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005813 GO_component GO:0005814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005814 GO_component GO:0005819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005819 GO_process GO:0046599 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046599 GO_process GO:0051301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051301 GO_process GO:0051310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051310 GO_process GO:0090307 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090307 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:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 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:0022607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607 GOslim_process GO:0051301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051301 GeneCards SPICE1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SPICE1 GeneID 152185 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=152185 GeneTree ENSGT00390000006207 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006207 HGNC HGNC:25083 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25083 HOGENOM HOG000111420 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000111420&db=HOGENOM6 HOVERGEN HBG102011 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG102011&db=HOVERGEN HPA HPA064843 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA064843 InParanoid Q8N0Z3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N0Z3 IntAct Q8N0Z3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N0Z3* InterPro IPR031387 http://www.ebi.ac.uk/interpro/entry/IPR031387 Jabion 152185 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=152185 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:152185 http://www.genome.jp/dbget-bin/www_bget?hsa:152185 KEGG_Orthology KO:K16490 http://www.genome.jp/dbget-bin/www_bget?KO:K16490 MIM 613447 http://www.ncbi.nlm.nih.gov/omim/613447 MINT MINT-4994846 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4994846 OMA DQYQMQD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DQYQMQD OrthoDB EOG091G0M0K http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0M0K PSORT swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SPICE_HUMAN PSORT-B swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SPICE_HUMAN PSORT2 swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SPICE_HUMAN Pfam PF15678 http://pfam.xfam.org/family/PF15678 PharmGKB PA142672168 http://www.pharmgkb.org/do/serve?objId=PA142672168&objCls=Gene Phobius swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SPICE_HUMAN PhylomeDB Q8N0Z3 http://phylomedb.org/?seqid=Q8N0Z3 ProteinModelPortal Q8N0Z3 http://www.proteinmodelportal.org/query/uniprot/Q8N0Z3 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 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 20736305 http://www.ncbi.nlm.nih.gov/pubmed/20736305 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_653319 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653319 RefSeq XP_016861267 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016861267 SMR Q8N0Z3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8N0Z3 STRING 9606.ENSP00000295872 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000295872&targetmode=cogs UCSC uc003eag http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003eag&org=rat UniGene Hs.477144 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.477144 UniProtKB SPICE_HUMAN http://www.uniprot.org/uniprot/SPICE_HUMAN UniProtKB-AC Q8N0Z3 http://www.uniprot.org/uniprot/Q8N0Z3 charge swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SPICE_HUMAN eggNOG ENOG410IJW0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IJW0 eggNOG ENOG410YWRG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YWRG epestfind swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SPICE_HUMAN garnier swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SPICE_HUMAN helixturnhelix swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SPICE_HUMAN hmoment swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SPICE_HUMAN iep swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SPICE_HUMAN inforesidue swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SPICE_HUMAN neXtProt NX_Q8N0Z3 http://www.nextprot.org/db/entry/NX_Q8N0Z3 octanol swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SPICE_HUMAN pepcoil swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SPICE_HUMAN pepdigest swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SPICE_HUMAN pepinfo swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SPICE_HUMAN pepnet swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SPICE_HUMAN pepstats swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SPICE_HUMAN pepwheel swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SPICE_HUMAN pepwindow swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SPICE_HUMAN sigcleave swissprot:SPICE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SPICE_HUMAN ## Database ID URL or Descriptions # BioGrid 125761 25 # BioGrid 609653 15 # Ensembl ENST00000452123 ENSP00000392407; ENSG00000227151 # Genevisible P86480 HS # HGNC HGNC:37222 PRR20D # InterPro IPR031439 PRR20 # Organism PR20D_HUMAN Homo sapiens (Human) # Pfam PF15708 PRR20 # Proteomes UP000005640 Chromosome 13 # RecName PR20D_HUMAN Proline-rich protein 20D # RefSeq NP_001123876 NM_001130404.1 # RefSeq NP_001123877 NM_001130405.1 # RefSeq NP_001123878 NM_001130406.1 # RefSeq NP_001123879 NM_001130407.1 # RefSeq NP_940843 NM_198441.2 # RefSeq XP_016855016 XM_016999527.1 # eggNOG ENOG410KFWV Eukaryota # eggNOG ENOG4110SX1 LUCA BLAST swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PR20D_HUMAN BioCyc ZFISH:G66-32924-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32924-MONOMER COXPRESdb 105370298 http://coxpresdb.jp/data/gene/105370298.shtml COXPRESdb 122183 http://coxpresdb.jp/data/gene/122183.shtml COXPRESdb 729233 http://coxpresdb.jp/data/gene/729233.shtml COXPRESdb 729240 http://coxpresdb.jp/data/gene/729240.shtml COXPRESdb 729246 http://coxpresdb.jp/data/gene/729246.shtml COXPRESdb 729250 http://coxpresdb.jp/data/gene/729250.shtml DOI 10.1038/nature02379 http://dx.doi.org/10.1038/nature02379 EMBL AL353652 http://www.ebi.ac.uk/ena/data/view/AL353652 Ensembl ENST00000452123 http://www.ensembl.org/id/ENST00000452123 G-Links 9606 http://link.g-language.org/9606/format=tsv GeneCards PRR20D http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PRR20D GeneID 105370298 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=105370298 GeneID 122183 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=122183 GeneID 729233 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=729233 GeneID 729240 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=729240 GeneID 729246 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=729246 GeneID 729250 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=729250 HGNC HGNC:37222 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:37222 HPA HPA059485 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA059485 InParanoid P86480 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P86480 InterPro IPR031439 http://www.ebi.ac.uk/interpro/entry/IPR031439 Jabion 105370298 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=105370298 Jabion 122183 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=122183 Jabion 729233 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=729233 Jabion 729240 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=729240 Jabion 729246 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=729246 Jabion 729250 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=729250 KEGG_Gene hsa:122183 http://www.genome.jp/dbget-bin/www_bget?hsa:122183 KEGG_Gene hsa:729233 http://www.genome.jp/dbget-bin/www_bget?hsa:729233 KEGG_Gene hsa:729240 http://www.genome.jp/dbget-bin/www_bget?hsa:729240 KEGG_Gene hsa:729246 http://www.genome.jp/dbget-bin/www_bget?hsa:729246 KEGG_Gene hsa:729250 http://www.genome.jp/dbget-bin/www_bget?hsa:729250 OrthoDB EOG091G0S87 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0S87 PSORT swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PR20D_HUMAN PSORT-B swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PR20D_HUMAN PSORT2 swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PR20D_HUMAN Pfam PF15708 http://pfam.xfam.org/family/PF15708 PharmGKB PA165505473 http://www.pharmgkb.org/do/serve?objId=PA165505473&objCls=Gene Phobius swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PR20D_HUMAN PhylomeDB P86480 http://phylomedb.org/?seqid=P86480 ProteinModelPortal P86480 http://www.proteinmodelportal.org/query/uniprot/P86480 PubMed 15057823 http://www.ncbi.nlm.nih.gov/pubmed/15057823 RefSeq NP_001123876 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123876 RefSeq NP_001123877 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123877 RefSeq NP_001123878 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123878 RefSeq NP_001123879 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001123879 RefSeq NP_940843 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_940843 RefSeq XP_016855016 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016855016 UniGene Hs.525056 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.525056 UniGene Hs.723090 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.723090 UniProtKB PR20D_HUMAN http://www.uniprot.org/uniprot/PR20D_HUMAN UniProtKB-AC P86480 http://www.uniprot.org/uniprot/P86480 charge swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PR20D_HUMAN eggNOG ENOG410KFWV http://eggnogapi.embl.de/nog_data/html/tree/ENOG410KFWV eggNOG ENOG4110SX1 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110SX1 epestfind swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PR20D_HUMAN garnier swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PR20D_HUMAN helixturnhelix swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PR20D_HUMAN hmoment swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PR20D_HUMAN iep swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PR20D_HUMAN inforesidue swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PR20D_HUMAN neXtProt NX_P86480 http://www.nextprot.org/db/entry/NX_P86480 octanol swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PR20D_HUMAN pepcoil swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PR20D_HUMAN pepdigest swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PR20D_HUMAN pepinfo swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PR20D_HUMAN pepnet swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PR20D_HUMAN pepstats swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PR20D_HUMAN pepwheel swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PR20D_HUMAN pepwindow swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PR20D_HUMAN sigcleave swissprot:PR20D_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PR20D_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WVC0-1; Sequence=Displayed; Name=2; IsoId=Q8WVC0-2; Sequence=VSP_020051; Note=No experimental confirmation available. Ref.2 (BAB71006) sequence differs from that shown due to a frameshift in position 471. {ECO 0000305}; # AltName LEO1_HUMAN Replicative senescence down-regulated leo1-like protein # BioGrid 125817 51 # CCDS CCDS10146 -. [Q8WVC0-1] # CCDS CCDS66767 -. [Q8WVC0-2] # ChiTaRS LEO1 human # Ensembl ENST00000299601 ENSP00000299601; ENSG00000166477. [Q8WVC0-1] # Ensembl ENST00000315141 ENSP00000314610; ENSG00000166477. [Q8WVC0-2] # FUNCTION LEO1_HUMAN Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Involved in polyadenylation of mRNA precursors. Connects PAF1C to Wnt signaling. {ECO 0000269|PubMed 15632063, ECO 0000269|PubMed 15791002, ECO 0000269|PubMed 19345177, ECO 0000269|PubMed 19952111, ECO 0000269|PubMed 20178742}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005730 nucleolus; IDA:HPA. # GO_component GO:0005813 centrosome; IDA:HPA. # GO_component GO:0016593 Cdc73/Paf1 complex; IDA:UniProtKB. # GO_function GO:1990269 RNA polymerase II C-terminal domain phosphoserine binding; IBA:GO_Central. # GO_process GO:0001711 endodermal cell fate commitment; ISS:UniProtKB. # GO_process GO:0006368 transcription elongation from RNA polymerase II promoter; IEA:InterPro. # GO_process GO:0006378 mRNA polyadenylation; IMP:UniProtKB. # GO_process GO:0010390 histone monoubiquitination; IDA:UniProtKB. # GO_process GO:0016055 Wnt signaling pathway; IEA:UniProtKB-KW. # GO_process GO:0019827 stem cell population maintenance; IDA:UniProtKB. # GO_process GO:0031442 positive regulation of mRNA 3'-end processing; IMP:UniProtKB. # GO_process GO:0032968 positive regulation of transcription elongation from RNA polymerase II promoter; IDA:UniProtKB. # GO_process GO:0033523 histone H2B ubiquitination; IDA:UniProtKB. # GO_process GO:0045638 negative regulation of myeloid cell differentiation; IDA:UniProtKB. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB. # GO_process GO:1904837 beta-catenin-TCF complex assembly; TAS:Reactome. # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005730 nucleolus # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006397 mRNA processing # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0006464 cellular protein modification process # 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 # Genevisible Q8WVC0 HS # HGNC HGNC:30401 LEO1 # INTERACTION LEO1_HUMAN Q6P1J9 CDC73; NbExp=13; IntAct=EBI-932432, EBI-930143; P35222 CTNNB1; NbExp=2; IntAct=EBI-932432, EBI-491549; Q8N7H5 PAF1; NbExp=23; IntAct=EBI-932432, EBI-2607770; P23193 TCEA1; NbExp=4; IntAct=EBI-932432, EBI-2608271; # IntAct Q8WVC0 38 # InterPro IPR007149 Leo1 # KEGG_Brite ko03021 Transcription machinery # MIM 610507 gene # Organism LEO1_HUMAN Homo sapiens (Human) # PDB 4M6T X-ray; 2.50 A; A=370-462 # Pfam PF04004 Leo1 # Proteomes UP000005640 Chromosome 15 # Reactome R-HSA-112382 Formation of RNA Pol II elongation complex # Reactome R-HSA-112387 Elongation arrest and recovery # Reactome R-HSA-201722:Formation of the beta-catenin TCF transactivating complex # Reactome R-HSA-674695 RNA Polymerase II Pre-transcription Events # Reactome R-HSA-75955 RNA Polymerase II Transcription Elongation # RecName LEO1_HUMAN RNA polymerase-associated protein LEO1 # RefSeq NP_001273359 NM_001286430.1. [Q8WVC0-2] # RefSeq NP_620147 NM_138792.3. [Q8WVC0-1] # SEQUENCE CAUTION Sequence=BAB71006.1; Type=Frameshift; Positions=473; Evidence={ECO 0000305}; # SIMILARITY Belongs to the LEO1 family. {ECO 0000305}. # SUBCELLULAR LOCATION LEO1_HUMAN Nucleus {ECO 0000269|PubMed 15791002}. # SUBUNIT LEO1_HUMAN Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61. Interacts with TCEA1, SUPT5H and CTNNB1. {ECO 0000269|PubMed 15632063, ECO 0000269|PubMed 16630820, ECO 0000269|PubMed 19952111, ECO 0000269|PubMed 20178742}. # TISSUE SPECIFICITY Highly expressed in skeletal muscle and heart. Weakly expressed in placenta and liver. {ECO:0000269|PubMed 15791002}. # UCSC uc002abo human. [Q8WVC0-1] # eggNOG ENOG410XRI0 LUCA # eggNOG KOG1181 Eukaryota # eggNOG KOG2428 Eukaryota BLAST swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:LEO1_HUMAN BioCyc ZFISH:ENSG00000166477-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000166477-MONOMER COXPRESdb 123169 http://coxpresdb.jp/data/gene/123169.shtml CleanEx HS_LEO1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_LEO1 DIP DIP-37885N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-37885N DOI 10.1002/pmic.200700884 http://dx.doi.org/10.1002/pmic.200700884 DOI 10.1016/j.cell.2006.01.053 http://dx.doi.org/10.1016/j.cell.2006.01.053 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.cell.2009.12.050 http://dx.doi.org/10.1016/j.cell.2009.12.050 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.stem.2009.03.009 http://dx.doi.org/10.1016/j.stem.2009.03.009 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/nbt1240 http://dx.doi.org/10.1038/nbt1240 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 10.1096/fj.04-2689com http://dx.doi.org/10.1096/fj.04-2689com DOI 10.1101/gad.1834709 http://dx.doi.org/10.1101/gad.1834709 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/MCB.25.2.612-620.2005 http://dx.doi.org/10.1128/MCB.25.2.612-620.2005 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AK055762 http://www.ebi.ac.uk/ena/data/view/AK055762 EMBL AY302186 http://www.ebi.ac.uk/ena/data/view/AY302186 EMBL BC018147 http://www.ebi.ac.uk/ena/data/view/BC018147 Ensembl ENST00000299601 http://www.ensembl.org/id/ENST00000299601 Ensembl ENST00000315141 http://www.ensembl.org/id/ENST00000315141 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:0005730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730 GO_component GO:0005813 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005813 GO_component GO:0016593 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016593 GO_function GO:1990269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990269 GO_process GO:0001711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001711 GO_process GO:0006368 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006368 GO_process GO:0006378 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006378 GO_process GO:0010390 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010390 GO_process GO:0016055 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016055 GO_process GO:0019827 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019827 GO_process GO:0031442 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031442 GO_process GO:0032968 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032968 GO_process GO:0033523 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033523 GO_process GO:0045638 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045638 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:1904837 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904837 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:0005815 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005815 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:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006397 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006397 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: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 LEO1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=LEO1 GeneID 123169 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=123169 GeneTree ENSGT00550000074952 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074952 HGNC HGNC:30401 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30401 HOGENOM HOG000253934 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000253934&db=HOGENOM6 HOVERGEN HBG081913 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081913&db=HOVERGEN HPA HPA040741 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040741 HPA HPA040941 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040941 InParanoid Q8WVC0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WVC0 IntAct Q8WVC0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WVC0* InterPro IPR007149 http://www.ebi.ac.uk/interpro/entry/IPR007149 Jabion 123169 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=123169 KEGG_Brite ko03021 http://www.genome.jp/dbget-bin/www_bget?ko03021 KEGG_Gene hsa:123169 http://www.genome.jp/dbget-bin/www_bget?hsa:123169 KEGG_Orthology KO:K15177 http://www.genome.jp/dbget-bin/www_bget?KO:K15177 MIM 610507 http://www.ncbi.nlm.nih.gov/omim/610507 OMA MASRGHF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MASRGHF OrthoDB EOG091G0ILS http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0ILS PDB 4M6T http://www.ebi.ac.uk/pdbe-srv/view/entry/4M6T PDBsum 4M6T http://www.ebi.ac.uk/pdbsum/4M6T PSORT swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:LEO1_HUMAN PSORT-B swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:LEO1_HUMAN PSORT2 swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:LEO1_HUMAN Pfam PF04004 http://pfam.xfam.org/family/PF04004 PharmGKB PA142671558 http://www.pharmgkb.org/do/serve?objId=PA142671558&objCls=Gene Phobius swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:LEO1_HUMAN PhylomeDB Q8WVC0 http://phylomedb.org/?seqid=Q8WVC0 ProteinModelPortal Q8WVC0 http://www.proteinmodelportal.org/query/uniprot/Q8WVC0 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15632063 http://www.ncbi.nlm.nih.gov/pubmed/15632063 PubMed 15791002 http://www.ncbi.nlm.nih.gov/pubmed/15791002 PubMed 16630820 http://www.ncbi.nlm.nih.gov/pubmed/16630820 PubMed 16964243 http://www.ncbi.nlm.nih.gov/pubmed/16964243 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 19345177 http://www.ncbi.nlm.nih.gov/pubmed/19345177 PubMed 19413330 http://www.ncbi.nlm.nih.gov/pubmed/19413330 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 19952111 http://www.ncbi.nlm.nih.gov/pubmed/19952111 PubMed 20068231 http://www.ncbi.nlm.nih.gov/pubmed/20068231 PubMed 20178742 http://www.ncbi.nlm.nih.gov/pubmed/20178742 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 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 Reactome R-HSA-112382 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112382 Reactome R-HSA-112387 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-112387 Reactome R-HSA-201722 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-201722 Reactome R-HSA-674695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-674695 Reactome R-HSA-75955 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-75955 RefSeq NP_001273359 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273359 RefSeq NP_620147 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_620147 SMR Q8WVC0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8WVC0 STRING 9606.ENSP00000299601 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000299601&targetmode=cogs UCSC uc002abo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002abo&org=rat UniGene Hs.567662 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.567662 UniProtKB LEO1_HUMAN http://www.uniprot.org/uniprot/LEO1_HUMAN UniProtKB-AC Q8WVC0 http://www.uniprot.org/uniprot/Q8WVC0 charge swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:LEO1_HUMAN eggNOG ENOG410XRI0 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRI0 eggNOG KOG1181 http://eggnogapi.embl.de/nog_data/html/tree/KOG1181 eggNOG KOG2428 http://eggnogapi.embl.de/nog_data/html/tree/KOG2428 epestfind swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:LEO1_HUMAN garnier swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:LEO1_HUMAN helixturnhelix swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:LEO1_HUMAN hmoment swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:LEO1_HUMAN iep swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:LEO1_HUMAN inforesidue swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:LEO1_HUMAN neXtProt NX_Q8WVC0 http://www.nextprot.org/db/entry/NX_Q8WVC0 octanol swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:LEO1_HUMAN pepcoil swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:LEO1_HUMAN pepdigest swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:LEO1_HUMAN pepinfo swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:LEO1_HUMAN pepnet swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:LEO1_HUMAN pepstats swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:LEO1_HUMAN pepwheel swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:LEO1_HUMAN pepwindow swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:LEO1_HUMAN sigcleave swissprot:LEO1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:LEO1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6PJG6-1; Sequence=Displayed; Name=2; IsoId=Q6PJG6-2; Sequence=VSP_021289, VSP_021290; Note=No experimental confirmation available.; Name=3; IsoId=Q6PJG6-3; Sequence=VSP_021288, VSP_021291; Note=No experimental confirmation available. Ref.5 (AAH40704) sequence is in conflict in position: 49 P->T. {ECO:0000305}; # AltName BRAT1_HUMAN BRCA1-associated protein required for ATM activation protein 1 # BioGrid 128767 25 # CCDS CCDS5334 -. [Q6PJG6-1] # DISEASE BRAT1_HUMAN Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) [MIM 614498] A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life. {ECO 0000269|PubMed 22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000340611 ENSP00000339637; ENSG00000106009. [Q6PJG6-1] # ExpressionAtlas Q6PJG6 baseline and differential # FUNCTION BRAT1_HUMAN Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress (PubMed 16452482, PubMed 22977523). Plays a role in regulating mitochondrial function and cell proliferation (PubMed 25070371). Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors (PubMed 25657994). {ECO 0000269|PubMed 16452482, ECO 0000269|PubMed 22977523, ECO 0000269|PubMed 25070371, ECO 0000269|PubMed 25657994}. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_process GO:0001934 positive regulation of protein phosphorylation; IMP:UniProtKB. # GO_process GO:0006006 glucose metabolic process; IMP:UniProtKB. # GO_process GO:0006915 apoptotic process; IMP:UniProtKB. # GO_process GO:0006974 cellular response to DNA damage stimulus; IMP:UniProtKB. # GO_process GO:0008283 cell proliferation; IMP:UniProtKB. # GO_process GO:0010212 response to ionizing radiation; IMP:UniProtKB. # GO_process GO:0016049 cell growth; IMP:UniProtKB. # GO_process GO:0016477 cell migration; IMP:UniProtKB. # GO_process GO:0051646 mitochondrion localization; IMP:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005737 cytoplasm # GOslim_process GO:0005975 carbohydrate metabolic process # 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:0040007 growth # GOslim_process GO:0044281 small molecule metabolic process # GOslim_process GO:0048870 cell motility # Gene3D 1.25.10.10 -; 1. # Genevisible Q6PJG6 HS # HGNC HGNC:21701 BRAT1 # INTERACTION BRAT1_HUMAN Q13315 ATM; NbExp=3; IntAct=EBI-10826195, EBI-495465; P38398 BRCA1; NbExp=6; IntAct=EBI-10826195, EBI-349905; # IntAct Q6PJG6 5 # InterPro IPR000357 HEAT # InterPro IPR011989 ARM-like # InterPro IPR016024 ARM-type_fold # MIM 614498 phenotype # MIM 614506 gene # Organism BRAT1_HUMAN Homo sapiens (Human) # PDB 4IFI X-ray; 2.20 A; B=268-273 # PIR T42692 T42692 # PTM BRAT1_HUMAN Ubiquitinated by NEDD4, NEDD4L and ITCH; mono- and polyubiquitinated forms are detected. {ECO 0000269|PubMed 25631046}. # Pfam PF02985 HEAT; 2 # Proteomes UP000005640 Chromosome 7 # RecName BRAT1_HUMAN BRCA1-associated ATM activator 1 # RefSeq NP_689956 NM_152743.3. [Q6PJG6-1] # SEQUENCE CAUTION Sequence=BAB15772.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO 0000305}; # SIMILARITY Contains 2 HEAT repeats. {ECO 0000305}. # SUBCELLULAR LOCATION BRAT1_HUMAN Nucleus {ECO 0000269|PubMed 16452482, ECO 0000269|PubMed 25631046}. Cytoplasm {ECO 0000269|PubMed 25631046}. Note=Present at double strand breaks (DSBs)following ionizing radiation treatment. The ubiquitinated form localizes in the nucleus in a NDFIP1-dependent manner. {ECO 0000269|PubMed 16452482, ECO 0000269|PubMed 25631046}. # SUBUNIT BRAT1_HUMAN Interacts with BRCA1 and ATM. Interacts with MTOR and RPTOR. Interacts with NDFIP1. Interacts with SMC1A and PRKDC. {ECO 0000269|PubMed 16452482, ECO 0000269|PubMed 22977523, ECO 0000269|PubMed 25631046, ECO 0000269|PubMed 25657994}. # SUPFAM SSF48371 SSF48371; 3 # TISSUE SPECIFICITY Ubiquitously expressed. {ECO:0000269|PubMed 16452482}. # UCSC uc003smi human. [Q6PJG6-1] # eggNOG ENOG410IEZF Eukaryota # eggNOG ENOG4110J7I LUCA BLAST swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:BRAT1_HUMAN COXPRESdb 221927 http://coxpresdb.jp/data/gene/221927.shtml CleanEx HS_C7orf27 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C7orf27 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/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/nbt1240 http://dx.doi.org/10.1038/nbt1240 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.M114.613687 http://dx.doi.org/10.1074/jbc.M114.613687 DOI 10.1074/jbc.M510332200 http://dx.doi.org/10.1074/jbc.M510332200 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 10.1126/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 10.1186/1471-2407-14-548 http://dx.doi.org/10.1186/1471-2407-14-548 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.1371/journal.pone.0028936 http://dx.doi.org/10.1371/journal.pone.0028936 DOI 10.3892/etm.2011.232 http://dx.doi.org/10.3892/etm.2011.232 EMBL AC092488 http://www.ebi.ac.uk/ena/data/view/AC092488 EMBL AK024482 http://www.ebi.ac.uk/ena/data/view/AK024482 EMBL AL133088 http://www.ebi.ac.uk/ena/data/view/AL133088 EMBL BC007209 http://www.ebi.ac.uk/ena/data/view/BC007209 EMBL BC015632 http://www.ebi.ac.uk/ena/data/view/BC015632 EMBL BC023561 http://www.ebi.ac.uk/ena/data/view/BC023561 EMBL BC040704 http://www.ebi.ac.uk/ena/data/view/BC040704 EMBL CH236953 http://www.ebi.ac.uk/ena/data/view/CH236953 EMBL CH471144 http://www.ebi.ac.uk/ena/data/view/CH471144 EMBL CH471144 http://www.ebi.ac.uk/ena/data/view/CH471144 Ensembl ENST00000340611 http://www.ensembl.org/id/ENST00000340611 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:0016020 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020 GO_process GO:0001934 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001934 GO_process GO:0006006 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006006 GO_process GO:0006915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915 GO_process GO:0006974 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006974 GO_process GO:0008283 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283 GO_process GO:0010212 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010212 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:0051646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051646 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_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: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:0040007 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040007 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 Gene3D 1.25.10.10 http://www.cathdb.info/version/latest/superfamily/1.25.10.10 GeneCards BRAT1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BRAT1 GeneID 221927 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=221927 GeneTree ENSGT00390000017551 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000017551 HGNC HGNC:21701 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21701 HOVERGEN HBG062139 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062139&db=HOVERGEN HPA HPA029455 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029455 InParanoid Q6PJG6 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q6PJG6 IntAct Q6PJG6 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q6PJG6* 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 221927 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=221927 KEGG_Gene hsa:221927 http://www.genome.jp/dbget-bin/www_bget?hsa:221927 MIM 614498 http://www.ncbi.nlm.nih.gov/omim/614498 MIM 614506 http://www.ncbi.nlm.nih.gov/omim/614506 MINT MINT-4994139 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4994139 OMA RLCSPCW http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RLCSPCW OrthoDB EOG091G0JD8 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JD8 PDB 4IFI http://www.ebi.ac.uk/pdbe-srv/view/entry/4IFI PDBsum 4IFI http://www.ebi.ac.uk/pdbsum/4IFI PSORT swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:BRAT1_HUMAN PSORT-B swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:BRAT1_HUMAN PSORT2 swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:BRAT1_HUMAN Pfam PF02985 http://pfam.xfam.org/family/PF02985 PharmGKB PA134959439 http://www.pharmgkb.org/do/serve?objId=PA134959439&objCls=Gene Phobius swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:BRAT1_HUMAN PhylomeDB Q6PJG6 http://phylomedb.org/?seqid=Q6PJG6 ProteinModelPortal Q6PJG6 http://www.proteinmodelportal.org/query/uniprot/Q6PJG6 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 16452482 http://www.ncbi.nlm.nih.gov/pubmed/16452482 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 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 22279524 http://www.ncbi.nlm.nih.gov/pubmed/22279524 PubMed 22977523 http://www.ncbi.nlm.nih.gov/pubmed/22977523 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25070371 http://www.ncbi.nlm.nih.gov/pubmed/25070371 PubMed 25631046 http://www.ncbi.nlm.nih.gov/pubmed/25631046 PubMed 25657994 http://www.ncbi.nlm.nih.gov/pubmed/25657994 RefSeq NP_689956 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689956 SMR Q6PJG6 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q6PJG6 STRING 9606.ENSP00000339637 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000339637&targetmode=cogs SUPFAM SSF48371 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371 UCSC uc003smi http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003smi&org=rat UniGene Hs.520623 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.520623 UniProtKB BRAT1_HUMAN http://www.uniprot.org/uniprot/BRAT1_HUMAN UniProtKB-AC Q6PJG6 http://www.uniprot.org/uniprot/Q6PJG6 charge swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:BRAT1_HUMAN eggNOG ENOG410IEZF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEZF eggNOG ENOG4110J7I http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110J7I epestfind swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:BRAT1_HUMAN garnier swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:BRAT1_HUMAN helixturnhelix swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:BRAT1_HUMAN hmoment swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:BRAT1_HUMAN iep swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:BRAT1_HUMAN inforesidue swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:BRAT1_HUMAN neXtProt NX_Q6PJG6 http://www.nextprot.org/db/entry/NX_Q6PJG6 octanol swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:BRAT1_HUMAN pepcoil swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:BRAT1_HUMAN pepdigest swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:BRAT1_HUMAN pepinfo swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:BRAT1_HUMAN pepnet swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:BRAT1_HUMAN pepstats swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:BRAT1_HUMAN pepwheel swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:BRAT1_HUMAN pepwindow swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:BRAT1_HUMAN sigcleave swissprot:BRAT1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:BRAT1_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 # BioGrid 125507 23 # DISEASE RB39B_HUMAN Mental retardation, X-linked 72 (MRX72) [MIM 300271] 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. MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features. {ECO 0000269|PubMed 20159109}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE RB39B_HUMAN Waisman syndrome (WSMN) [MIM 311510] A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease. {ECO 0000269|PubMed 25434005}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000369454 ENSP00000358466; ENSG00000155961 # FUNCTION RB39B_HUMAN May be involved in vesicular trafficking. Plays a role in synapse formation. May regulate the homeostasis of SNCA/alpha- synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (By similarity). {ECO 0000250|UniProtKB Q8BHC1}. # GO_component GO:0005622 intracellular; IDA:LIFEdb. # GO_component GO:0005794 Golgi apparatus; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0031982 vesicle; IDA:UniProtKB. # GO_component GO:0043005 neuron projection; IDA:UniProtKB. # GO_function GO:0005525 GTP binding; IEA:UniProtKB-KW. # GO_function GO:0031489 myosin V binding; IPI:UniProtKB. # GO_process GO:0007264 small GTPase mediated signal transduction; IEA:InterPro. # GO_process GO:0015031 protein transport; IEA:UniProtKB-KW. # GO_process GO:0016192 vesicle-mediated transport; ISS:UniProtKB. # GO_process GO:0050808 synapse organization; ISS:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005622 intracellular # GOslim_component GO:0005794 Golgi apparatus # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_function GO:0008092 cytoskeletal protein binding # 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:0016192 vesicle-mediated transport # Gene3D 3.40.50.300 -; 1. # Genevisible Q96DA2 HS # HGNC HGNC:16499 RAB39B # INTERACTION RB39B_HUMAN Q08379 GOLGA2; NbExp=3; IntAct=EBI-9089467, EBI-618309; Q96T51 RUFY1; NbExp=3; IntAct=EBI-9089467, EBI-3941207; Q8IUH5 ZDHHC17; NbExp=3; IntAct=EBI-9089467, EBI-524753; # IntAct Q96DA2 4 # InterPro IPR001806 Small_GTPase # InterPro IPR005225 Small_GTP-bd_dom # InterPro IPR027417 P-loop_NTPase # KEGG_Brite ko04031 GTP-binding proteins # KEGG_Disease H00577 [Congenital disorder; Mental retardation; Epilepsy] Rolandic epilepsy # MIM 300271 phenotype # MIM 300774 gene # MIM 311510 phenotype # Organism RB39B_HUMAN Homo sapiens (Human) # Orphanet 777 X-linked non-syndromic intellectual disability # PROSITE PS51419 RAB # Pfam PF00071 Ras # Proteomes UP000005640 Chromosome X # Reactome R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs # RecName RB39B_HUMAN Ras-related protein Rab-39B # RefSeq NP_741995 NM_171998.3 # SIMILARITY Belongs to the small GTPase superfamily. Rab family. {ECO 0000305}. # SUBCELLULAR LOCATION RB39B_HUMAN Cell membrane {ECO 0000305}; Lipid-anchor {ECO 0000305}; Cytoplasmic side {ECO 0000305}. Golgi apparatus {ECO 0000269|PubMed 20159109, ECO 0000269|PubMed 24349490}. Note=Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network. {ECO 0000250}. # SUBUNIT Interacts (in GTP-bound form) with PICK1 (via PDZ domain); a PICK1 homodimer may allow simultaneous association of RAB39B and GRIA2 to PICK1 which is involved in GRIA2 trafficking. {ECO:0000269|PubMed 25784538}. # SUPFAM SSF52540 SSF52540 # TIGRFAMs TIGR00231 small_GTP # TISSUE SPECIFICITY Highly expressed in the brain. {ECO:0000269|PubMed 20159109}. # UCSC uc004fne human # eggNOG ENOG410ZQFG LUCA # eggNOG KOG0091 Eukaryota BLAST swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RB39B_HUMAN BioCyc ZFISH:ENSG00000155961-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000155961-MONOMER COXPRESdb 116442 http://coxpresdb.jp/data/gene/116442.shtml CleanEx HS_RAB39B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RAB39B DOI 10.1016/j.ajhg.2010.01.011 http://dx.doi.org/10.1016/j.ajhg.2010.01.011 DOI 10.1016/j.ajhg.2014.10.015 http://dx.doi.org/10.1016/j.ajhg.2014.10.015 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ncomms7504 http://dx.doi.org/10.1038/ncomms7504 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1159/000064047 http://dx.doi.org/10.1159/000064047 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 DOI 10.1371/journal.pone.0083324 http://dx.doi.org/10.1371/journal.pone.0083324 EMBL AL356738 http://www.ebi.ac.uk/ena/data/view/AL356738 EMBL AL834460 http://www.ebi.ac.uk/ena/data/view/AL834460 EMBL AY052478 http://www.ebi.ac.uk/ena/data/view/AY052478 EMBL BC009714 http://www.ebi.ac.uk/ena/data/view/BC009714 Ensembl ENST00000369454 http://www.ensembl.org/id/ENST00000369454 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: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:0031982 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031982 GO_component GO:0043005 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043005 GO_function GO:0005525 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005525 GO_function GO:0031489 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031489 GO_process GO:0007264 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007264 GO_process GO:0015031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015031 GO_process GO:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 GO_process GO:0050808 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050808 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: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:0008092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092 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:0016192 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards RAB39B http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RAB39B GeneID 116442 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=116442 GeneTree ENSGT00760000118841 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118841 HGNC HGNC:16499 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16499 HOGENOM HOG000233968 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000233968&db=HOGENOM6 HOVERGEN HBG009351 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009351&db=HOVERGEN HPA HPA001114 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001114 HPA HPA042505 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042505 InParanoid Q96DA2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96DA2 IntAct Q96DA2 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96DA2* 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 116442 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=116442 KEGG_Brite ko04031 http://www.genome.jp/dbget-bin/www_bget?ko04031 KEGG_Disease H00577 http://www.genome.jp/dbget-bin/www_bget?H00577 KEGG_Gene hsa:116442 http://www.genome.jp/dbget-bin/www_bget?hsa:116442 KEGG_Orthology KO:K07925 http://www.genome.jp/dbget-bin/www_bget?KO:K07925 MIM 300271 http://www.ncbi.nlm.nih.gov/omim/300271 MIM 300774 http://www.ncbi.nlm.nih.gov/omim/300774 MIM 311510 http://www.ncbi.nlm.nih.gov/omim/311510 MINT MINT-4724040 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4724040 OMA VNAGGHR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VNAGGHR Orphanet 777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=777 OrthoDB EOG091G0RUB http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0RUB PROSITE PS51419 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51419 PSORT swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RB39B_HUMAN PSORT-B swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RB39B_HUMAN PSORT2 swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RB39B_HUMAN Pfam PF00071 http://pfam.xfam.org/family/PF00071 PharmGKB PA34131 http://www.pharmgkb.org/do/serve?objId=PA34131&objCls=Gene Phobius swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RB39B_HUMAN PhylomeDB Q96DA2 http://phylomedb.org/?seqid=Q96DA2 ProteinModelPortal Q96DA2 http://www.proteinmodelportal.org/query/uniprot/Q96DA2 PubMed 12438742 http://www.ncbi.nlm.nih.gov/pubmed/12438742 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 20159109 http://www.ncbi.nlm.nih.gov/pubmed/20159109 PubMed 24349490 http://www.ncbi.nlm.nih.gov/pubmed/24349490 PubMed 25434005 http://www.ncbi.nlm.nih.gov/pubmed/25434005 PubMed 25784538 http://www.ncbi.nlm.nih.gov/pubmed/25784538 Reactome R-HSA-8876198 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8876198 RefSeq NP_741995 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_741995 SMR Q96DA2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96DA2 STRING 9606.ENSP00000358466 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000358466&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 uc004fne http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004fne&org=rat UniGene Hs.632832 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.632832 UniProtKB RB39B_HUMAN http://www.uniprot.org/uniprot/RB39B_HUMAN UniProtKB-AC Q96DA2 http://www.uniprot.org/uniprot/Q96DA2 charge swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RB39B_HUMAN eggNOG ENOG410ZQFG http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZQFG eggNOG KOG0091 http://eggnogapi.embl.de/nog_data/html/tree/KOG0091 epestfind swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RB39B_HUMAN garnier swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RB39B_HUMAN helixturnhelix swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RB39B_HUMAN hmoment swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RB39B_HUMAN iep swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RB39B_HUMAN inforesidue swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RB39B_HUMAN neXtProt NX_Q96DA2 http://www.nextprot.org/db/entry/NX_Q96DA2 octanol swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RB39B_HUMAN pepcoil swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RB39B_HUMAN pepdigest swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RB39B_HUMAN pepinfo swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RB39B_HUMAN pepnet swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RB39B_HUMAN pepstats swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RB39B_HUMAN pepwheel swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RB39B_HUMAN pepwindow swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RB39B_HUMAN sigcleave swissprot:RB39B_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RB39B_HUMAN ## Database ID URL or Descriptions # AltName IFT52_HUMAN Protein NGD5 homolog # BioGrid 119287 10 # ChiTaRS IFT52 human # Ensembl ENST00000373030 ENSP00000362121; ENSG00000101052 # Ensembl ENST00000373039 ENSP00000362130; ENSG00000101052 # FUNCTION IFT52_HUMAN Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. {ECO 0000250}. # GO_component GO:0005814 centriole; IEA:Ensembl. # GO_component GO:0030992 intraciliary transport particle B; ISS:UniProtKB. # GO_component GO:0031514 motile cilium; ISS:BHF-UCL. # GO_component GO:0032391 photoreceptor connecting cilium; IEA:Ensembl. # GO_component GO:0044292 dendrite terminus; IEA:Ensembl. # GO_component GO:0097542 ciliary tip; TAS:Reactome. # GO_component GO:0097546 ciliary base; IEA:Ensembl. # GO_function GO:0008022 protein C-terminus binding; ISS:BHF-UCL. # GO_process GO:0001841 neural tube formation; IEA:Ensembl. # GO_process GO:0001947 heart looping; IEA:Ensembl. # GO_process GO:0007224 smoothened signaling pathway; IEA:Ensembl. # GO_process GO:0009953 dorsal/ventral pattern formation; IEA:Ensembl. # GO_process GO:0042733 embryonic digit morphogenesis; IEA:Ensembl. # GO_process GO:0050680 negative regulation of epithelial cell proliferation; IEA:Ensembl. # GO_process GO:0060271 cilium morphogenesis; IEA:Ensembl. # GO_process GO:0070613 regulation of protein processing; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005929 cilium # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003674 molecular_function # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0022607 cellular component assembly # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # Genevisible Q9Y366 HS # HGNC HGNC:15901 IFT52 # IntAct Q9Y366 16 # InterPro IPR019196 ABC_transp_unknown # Organism IFT52_HUMAN Homo sapiens (Human) # Pfam PF09822 ABC_transp_aux # Proteomes UP000005640 Chromosome 20 # Reactome R-HSA-5610787 Hedgehog 'off' state # Reactome R-HSA-5620924 Intraflagellar transport # RecName IFT52_HUMAN Intraflagellar transport protein 52 homolog # RefSeq NP_001290387 NM_001303458.2 # RefSeq NP_057088 NM_016004.4 # SUBCELLULAR LOCATION IFT52_HUMAN Cell projection, cilium. # SUBUNIT Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT88 (By similarity). {ECO 0000250}. # UCSC uc002xkw human # eggNOG ENOG410XPGR LUCA # eggNOG KOG3861 Eukaryota BLAST swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:IFT52_HUMAN BioCyc ZFISH:ENSG00000101052-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000101052-MONOMER COXPRESdb 51098 http://coxpresdb.jp/data/gene/51098.shtml CleanEx HS_IFT52 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IFT52 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.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 EMBL AF151811 http://www.ebi.ac.uk/ena/data/view/AF151811 EMBL AK001436 http://www.ebi.ac.uk/ena/data/view/AK001436 EMBL AL121886 http://www.ebi.ac.uk/ena/data/view/AL121886 EMBL AL121886 http://www.ebi.ac.uk/ena/data/view/AL121886 EMBL BC039831 http://www.ebi.ac.uk/ena/data/view/BC039831 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL CH471077 http://www.ebi.ac.uk/ena/data/view/CH471077 EMBL Z98752 http://www.ebi.ac.uk/ena/data/view/Z98752 EMBL Z98752 http://www.ebi.ac.uk/ena/data/view/Z98752 Ensembl ENST00000373030 http://www.ensembl.org/id/ENST00000373030 Ensembl ENST00000373039 http://www.ensembl.org/id/ENST00000373039 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005814 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005814 GO_component GO:0030992 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030992 GO_component GO:0031514 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031514 GO_component GO:0032391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032391 GO_component GO:0044292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044292 GO_component GO:0097542 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097542 GO_component GO:0097546 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097546 GO_function GO:0008022 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008022 GO_process GO:0001841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001841 GO_process GO:0001947 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001947 GO_process GO:0007224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007224 GO_process GO:0009953 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009953 GO_process GO:0042733 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042733 GO_process GO:0050680 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050680 GO_process GO:0060271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060271 GO_process GO:0070613 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070613 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_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_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:0048646 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646 GeneCards IFT52 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IFT52 GeneID 51098 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51098 GeneTree ENSGT00390000011581 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011581 HGNC HGNC:15901 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15901 HOVERGEN HBG023562 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG023562&db=HOVERGEN HPA HPA063367 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063367 InParanoid Q9Y366 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y366 IntAct Q9Y366 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y366* InterPro IPR019196 http://www.ebi.ac.uk/interpro/entry/IPR019196 Jabion 51098 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51098 KEGG_Gene hsa:51098 http://www.genome.jp/dbget-bin/www_bget?hsa:51098 OMA AMFEYLI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AMFEYLI OrthoDB EOG091G074U http://cegg.unige.ch/orthodb/results?searchtext=EOG091G074U PSORT swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:IFT52_HUMAN PSORT-B swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:IFT52_HUMAN PSORT2 swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:IFT52_HUMAN Pfam PF09822 http://pfam.xfam.org/family/PF09822 PharmGKB PA25796 http://www.pharmgkb.org/do/serve?objId=PA25796&objCls=Gene Phobius swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:IFT52_HUMAN PhylomeDB Q9Y366 http://phylomedb.org/?seqid=Q9Y366 ProteinModelPortal Q9Y366 http://www.proteinmodelportal.org/query/uniprot/Q9Y366 PubMed 10810093 http://www.ncbi.nlm.nih.gov/pubmed/10810093 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 Reactome R-HSA-5610787 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5610787 Reactome R-HSA-5620924 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5620924 RefSeq NP_001290387 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001290387 RefSeq NP_057088 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057088 SMR Q9Y366 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9Y366 STRING 9606.ENSP00000362121 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000362121&targetmode=cogs UCSC uc002xkw http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002xkw&org=rat UniGene Hs.444332 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.444332 UniProtKB IFT52_HUMAN http://www.uniprot.org/uniprot/IFT52_HUMAN UniProtKB-AC Q9Y366 http://www.uniprot.org/uniprot/Q9Y366 charge swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/charge/swissprot:IFT52_HUMAN eggNOG ENOG410XPGR http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XPGR eggNOG KOG3861 http://eggnogapi.embl.de/nog_data/html/tree/KOG3861 epestfind swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:IFT52_HUMAN garnier swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:IFT52_HUMAN helixturnhelix swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:IFT52_HUMAN hmoment swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:IFT52_HUMAN iep swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/iep/swissprot:IFT52_HUMAN inforesidue swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:IFT52_HUMAN neXtProt NX_Q9Y366 http://www.nextprot.org/db/entry/NX_Q9Y366 octanol swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:IFT52_HUMAN pepcoil swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:IFT52_HUMAN pepdigest swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:IFT52_HUMAN pepinfo swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:IFT52_HUMAN pepnet swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:IFT52_HUMAN pepstats swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:IFT52_HUMAN pepwheel swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:IFT52_HUMAN pepwindow swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:IFT52_HUMAN sigcleave swissprot:IFT52_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:IFT52_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NAT9_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BTE0-1; Sequence=Displayed; Name=2; IsoId=Q9BTE0-2; Sequence=VSP_025231; # AltName NAT9_HUMAN Embryo brain-specific protein # BioGrid 117582 13 # CCDS CCDS11706 -. [Q9BTE0-1] # CCDS CCDS77102 -. [Q9BTE0-2] # Ensembl ENST00000357814 ENSP00000350467; ENSG00000109065. [Q9BTE0-1] # Ensembl ENST00000580301 ENSP00000462019; ENSG00000109065. [Q9BTE0-2] # ExpressionAtlas Q9BTE0 baseline and differential # GO_component GO:0043234 protein complex; IDA:LIFEdb. # GO_function GO:0008080 N-acetyltransferase activity; IBA:GO_Central. # GO_process GO:0006474 N-terminal protein amino acid acetylation; IBA:GO_Central. # GOslim_component GO:0043234 protein complex # GOslim_function GO:0016746 transferase activity, transferring acyl groups # GOslim_process GO:0006464 cellular protein modification process # Gene3D 3.40.630.30 -; 1. # Genevisible Q9BTE0 HS # HGNC HGNC:23133 NAT9 # INTERACTION NAT9_HUMAN O43324 EEF1E1; NbExp=4; IntAct=EBI-711919, EBI-1048486; # IntAct Q9BTE0 9 # InterPro IPR000182 GNAT_dom # InterPro IPR016181 Acyl_CoA_acyltransferase # Organism NAT9_HUMAN Homo sapiens (Human) # PIR T08699 T08699 # Pfam PF13302 Acetyltransf_3 # Proteomes UP000005640 Chromosome 17 # RecName NAT9_HUMAN N-acetyltransferase 9 # RefSeq NP_001292006 NM_001305077.1. [Q9BTE0-2] # RefSeq NP_001292007 NM_001305078.1. [Q9BTE0-1] # RefSeq NP_001292008 NM_001305079.1 # RefSeq NP_001292009 NM_001305080.1 # RefSeq NP_001292010 NM_001305081.1 # RefSeq NP_001292011 NM_001305082.1 # RefSeq NP_001292012 NM_001305083.1 # RefSeq NP_001292013 NM_001305084.1 # RefSeq NP_001292014 NM_001305085.1 # RefSeq NP_001292015 NM_001305086.1 # RefSeq NP_001292016 NM_001305087.1 # RefSeq NP_001292017 NM_001305088.1 # RefSeq NP_056469 NM_015654.4. [Q9BTE0-1] # SIMILARITY Belongs to the acetyltransferase family. GNAT subfamily. {ECO 0000305}. # SIMILARITY Contains 1 N-acetyltransferase domain. {ECO 0000305}. # SUPFAM SSF55729 SSF55729 # UCSC uc002jlq human. [Q9BTE0-1] # eggNOG ENOG4111P75 LUCA # eggNOG KOG4135 Eukaryota BLAST swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NAT9_HUMAN BioCyc ZFISH:ENSG00000109065-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000109065-MONOMER COXPRESdb 26151 http://coxpresdb.jp/data/gene/26151.shtml CleanEx HS_NAT9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NAT9 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 EC_number EC:2.3.1.- http://www.genome.jp/dbget-bin/www_bget?EC:2.3.1.- EMBL AK312958 http://www.ebi.ac.uk/ena/data/view/AK312958 EMBL AL050269 http://www.ebi.ac.uk/ena/data/view/AL050269 EMBL AY632082 http://www.ebi.ac.uk/ena/data/view/AY632082 EMBL BC004195 http://www.ebi.ac.uk/ena/data/view/BC004195 EMBL BC004225 http://www.ebi.ac.uk/ena/data/view/BC004225 EMBL CH471099 http://www.ebi.ac.uk/ena/data/view/CH471099 ENZYME 2.3.1.- http://enzyme.expasy.org/EC/2.3.1.- Ensembl ENST00000357814 http://www.ensembl.org/id/ENST00000357814 Ensembl ENST00000580301 http://www.ensembl.org/id/ENST00000580301 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GO_function GO:0008080 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008080 GO_process GO:0006474 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006474 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0016746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016746 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 Gene3D 3.40.630.30 http://www.cathdb.info/version/latest/superfamily/3.40.630.30 GeneCards NAT9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NAT9 GeneID 26151 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26151 GeneTree ENSGT00390000012745 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012745 HGNC HGNC:23133 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23133 HOGENOM HOG000189068 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000189068&db=HOGENOM6 HOVERGEN HBG104444 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG104444&db=HOVERGEN HPA HPA021820 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA021820 HPA HPA057149 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057149 InParanoid Q9BTE0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BTE0 IntAct Q9BTE0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BTE0* IntEnz 2.3.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.1 InterPro IPR000182 http://www.ebi.ac.uk/interpro/entry/IPR000182 InterPro IPR016181 http://www.ebi.ac.uk/interpro/entry/IPR016181 Jabion 26151 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26151 KEGG_Gene hsa:26151 http://www.genome.jp/dbget-bin/www_bget?hsa:26151 MINT MINT-1369693 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1369693 PSORT swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NAT9_HUMAN PSORT-B swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NAT9_HUMAN PSORT2 swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NAT9_HUMAN Pfam PF13302 http://pfam.xfam.org/family/PF13302 PharmGKB PA142671281 http://www.pharmgkb.org/do/serve?objId=PA142671281&objCls=Gene Phobius swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NAT9_HUMAN PhylomeDB Q9BTE0 http://phylomedb.org/?seqid=Q9BTE0 ProteinModelPortal Q9BTE0 http://www.proteinmodelportal.org/query/uniprot/Q9BTE0 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_001292006 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292006 RefSeq NP_001292007 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292007 RefSeq NP_001292008 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292008 RefSeq NP_001292009 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292009 RefSeq NP_001292010 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292010 RefSeq NP_001292011 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292011 RefSeq NP_001292012 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292012 RefSeq NP_001292013 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292013 RefSeq NP_001292014 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292014 RefSeq NP_001292015 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292015 RefSeq NP_001292016 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292016 RefSeq NP_001292017 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001292017 RefSeq NP_056469 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056469 SMR Q9BTE0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BTE0 STRING 9606.ENSP00000350467 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000350467&targetmode=cogs SUPFAM SSF55729 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55729 UCSC uc002jlq http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jlq&org=rat UniGene Hs.144058 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.144058 UniProtKB NAT9_HUMAN http://www.uniprot.org/uniprot/NAT9_HUMAN UniProtKB-AC Q9BTE0 http://www.uniprot.org/uniprot/Q9BTE0 charge swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NAT9_HUMAN eggNOG ENOG4111P75 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111P75 eggNOG KOG4135 http://eggnogapi.embl.de/nog_data/html/tree/KOG4135 epestfind swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NAT9_HUMAN garnier swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NAT9_HUMAN helixturnhelix swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NAT9_HUMAN hmoment swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NAT9_HUMAN iep swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NAT9_HUMAN inforesidue swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NAT9_HUMAN neXtProt NX_Q9BTE0 http://www.nextprot.org/db/entry/NX_Q9BTE0 octanol swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NAT9_HUMAN pepcoil swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NAT9_HUMAN pepdigest swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NAT9_HUMAN pepinfo swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NAT9_HUMAN pepnet swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NAT9_HUMAN pepstats swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NAT9_HUMAN pepwheel swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NAT9_HUMAN pepwindow swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NAT9_HUMAN sigcleave swissprot:NAT9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NAT9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CASL_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q14511-1; Sequence=Displayed; Name=2; IsoId=Q14511-2; Sequence=VSP_042835, VSP_042836; Note=No experimental confirmation available.; Name=3; IsoId=Q14511-3; Sequence=VSP_044579; Note=No experimental confirmation available.; # AltName CASL_HUMAN CRK-associated substrate-related protein # AltName CASL_HUMAN Cas scaffolding protein family member 2 # AltName CASL_HUMAN Neural precursor cell expressed developmentally down-regulated protein 9 # AltName CASL_HUMAN Renal carcinoma antigen NY-REN-12 # AltName CASL_HUMAN p105 # AltName CASL_HUMAN p105 # BioGrid 110816 44 # CCDS CCDS34340 -. [Q14511-2] # CCDS CCDS4520 -. [Q14511-1] # CCDS CCDS47373 -. [Q14511-3] # ChiTaRS NEDD9 human # DOMAIN CASL_HUMAN Contains a central domain containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2-binding sites putatively bind CRK, NCK and ABL SH2 domains. The HLH motif confers specific interaction with the HLH proteins ID2, E12 and E47. It is absolutely required for the induction of pseudohyphal growth in yeast and mediates homodimerization and heterodimerization with p130cas. # DOMAIN CASL_HUMAN The SH3 domain interacts with two proline-rich regions of PTK2/FAK1. # Ensembl ENST00000379433 ENSP00000368745; ENSG00000111859. [Q14511-2] # Ensembl ENST00000379446 ENSP00000368759; ENSG00000111859. [Q14511-1] # Ensembl ENST00000504387 ENSP00000422871; ENSG00000111859. [Q14511-3] # ExpressionAtlas Q14511 baseline and differential # FUNCTION CASL_HUMAN Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May function in transmitting growth control signals between focal adhesions at the cell periphery and the mitotic spindle in response to adhesion or growth factor signals initiating cell proliferation. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRK, NCK and SHPTP2 to the tyrosine phosphorylated form. # GO_component GO:0000922 spindle pole; IEA:Ensembl. # GO_component GO:0005634 nucleus; TAS:ProtInc. # GO_component GO:0005737 cytoplasm; TAS:ProtInc. # GO_component GO:0005794 Golgi apparatus; IEA:UniProtKB-SubCell. # GO_component GO:0005819 spindle; TAS:ProtInc. # GO_component GO:0005925 focal adhesion; IEA:UniProtKB-SubCell. # GO_component GO:0005938 cell cortex; IEA:UniProtKB-SubCell. # GO_component GO:0030027 lamellipodium; IEA:UniProtKB-SubCell. # GO_process GO:0007010 cytoskeleton organization; NAS:UniProtKB. # GO_process GO:0007067 mitotic nuclear division; IEA:UniProtKB-KW. # GO_process GO:0007155 cell adhesion; NAS:ProtInc. # GO_process GO:0007165 signal transduction; TAS:ProtInc. # GO_process GO:0007229 integrin-mediated signaling pathway; NAS:UniProtKB. # GO_process GO:0040008 regulation of growth; IEA:UniProtKB-KW. # GO_process GO:0051017 actin filament bundle assembly; NAS:UniProtKB. # GO_process GO:0051301 cell division; IEA:UniProtKB-KW. # 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:0043226 organelle # GOslim_process GO:0007010 cytoskeleton organization # GOslim_process GO:0007067 mitotic nuclear division # 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:0051301 cell division # Genevisible Q14511 HS # HGNC HGNC:7733 NEDD9 # INDUCTION CASL_HUMAN Activated upon induction of cell growth. # INTERACTION CASL_HUMAN Q8N9N5 BANP; NbExp=4; IntAct=EBI-2108053, EBI-744695; O75815 BCAR3; NbExp=3; IntAct=EBI-2108053, EBI-702336; Q15742 NAB2; NbExp=4; IntAct=EBI-2108053, EBI-8641936; P25963 NFKBIA; NbExp=3; IntAct=EBI-2108053, EBI-307386; P86479 PRR20C; NbExp=3; IntAct=EBI-2108053, EBI-10172814; Q93062 RBPMS; NbExp=3; IntAct=EBI-2108053, EBI-740322; Q04864 REL; NbExp=3; IntAct=EBI-2108053, EBI-307352; Q8HWS3 RFX6; NbExp=3; IntAct=EBI-2108053, EBI-746118; P14373 TRIM27; NbExp=4; IntAct=EBI-2108053, EBI-719493; Q15654 TRIP6; NbExp=3; IntAct=EBI-2108053, EBI-742327; # IntAct Q14511 29 # InterPro IPR001452 SH3_domain # InterPro IPR014928 Serine_rich # InterPro IPR021901 CAS_DUF3513 # KEGG_Brite ko03036 Chromosome # MIM 602265 gene # Organism CASL_HUMAN Homo sapiens (Human) # PDB 2L81 NMR; -; A=399-563 # PROSITE PS50002 SH3 # PTM CASL_HUMAN Cell cycle-regulated processing produces four isoforms p115, p105, p65, and p55. Isoform p115 arises from p105 phosphorylation and appears later in the cell cycle. Isoform p55 arises from p105 as a result of cleavage at a caspase cleavage-related site and it appears specifically at mitosis. The p65 isoform is poorly detected. {ECO 0000269|PubMed 9584194}. # PTM CASL_HUMAN PTK2/FAK1 phosphorylates the protein at the YDYVHL motif (conserved among all cas proteins). The SRC family kinases (FYN, SRC, LCK and CRK) are recruited to the phosphorylated sites and can phosphorylate other tyrosine residues. Ligation of either integrin beta-1 or B-cell antigen receptor on tonsillar B-cells and B-cell lines promotes tyrosine phosphorylation and both integrin and BCR-mediated tyrosine phosphorylation requires an intact actin network. In fibroblasts transformation with oncogene v-ABL results in an increase in tyrosine phosphorylation. Transiently phosphorylated following CD3 cross-linking and this phosphorylated form binds to CRK and C3G. A mutant lacking the SH3 domain is phosphorylated upon CD3 cross-linking but not upon integrin beta-1 cross-linking. Tyrosine phosphorylation occurs upon stimulation of the G-protein coupled C1a calcitonin receptor. Calcitonin-stimulated tyrosine phosphorylation is mediated by calcium- and protein kinase C-dependent mechanisms and requires the integrity of the actin cytoskeleton. Phosphorylation at Ser- 369 induces proteasomal degradation. {ECO 0000269|PubMed 19539609}. # Pfam PF08824 Serine_rich # Pfam PF12026 DUF3513 # Pfam PF14604 SH3_9 # Proteomes UP000005640 Chromosome 6 # RecName CASL_HUMAN Enhancer of filamentation 1 # RecName CASL_HUMAN Enhancer of filamentation 1 p55 # RefSeq NP_001135865 NM_001142393.1. [Q14511-3] # RefSeq NP_001257962 NM_001271033.1 # RefSeq NP_006394 NM_006403.3. [Q14511-1] # RefSeq NP_892011 NM_182966.3. [Q14511-2] # SIMILARITY Belongs to the CAS family. {ECO 0000305}. # SIMILARITY Contains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule PRU00192}. # SMART SM00326 SH3 # SUBCELLULAR LOCATION CASL_HUMAN Cytoplasm, cell cortex. Nucleus. Golgi apparatus. Cell projection, lamellipodium. Cytoplasm. Cell junction, focal adhesion. Note=Localizes to both the cell nucleus and the cell periphery and is differently localized in fibroblasts and epithelial cells. In fibroblasts is predominantly nuclear and in some cells is present in the Golgi apparatus. In epithelial cells localized predominantly in the cell periphery with particular concentration in lamellipodia but is also found in the nucleus. Isoforms p105 and p115 are predominantly cytoplasmic and associate with focal adhesions while p55 associates with mitotic spindle. # SUBCELLULAR LOCATION CASL_HUMAN Enhancer of filamentation 1 p55 Cytoplasm, cytoskeleton, spindle. # SUBUNIT CASL_HUMAN Interacts with BCAR3 and SH2D3C (By similarity). Homodimer. Can heterodimerize with HLH proteins ID2, E12, E47 and also with p130cas. Forms complexes in vivo with related adhesion focal tyrosine kinase (RAFTK), adapter protein CRKL and LYN kinase. Interacts with MICAL and TXNL4/DIM1. {ECO 0000250, ECO 0000269|PubMed 11054566, ECO 0000269|PubMed 11827972}. # SUPFAM SSF50044 SSF50044 # TISSUE SPECIFICITY CASL_HUMAN Widely expressed. Higher levels detected in kidney, lung, and placenta. Also detected in T-cells, B-cells and diverse cell lines. The protein has been detected in lymphocytes, in diverse cell lines, and in lung tissues. # UCSC uc003mzv human. [Q14511-1] # eggNOG ENOG410IEDD Eukaryota # eggNOG ENOG410ZSUM LUCA BLAST swissprot:CASL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CASL_HUMAN BioCyc ZFISH:ENSG00000111859-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000111859-MONOMER COXPRESdb 4739 http://coxpresdb.jp/data/gene/4739.shtml CleanEx HS_NEDD9 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_NEDD9 DOI 10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO http://dx.doi.org/10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO DOI 10.1006/excr.1999.4609 http://dx.doi.org/10.1006/excr.1999.4609 DOI 10.1016/S0378-1119(00)00372-3 http://dx.doi.org/10.1016/S0378-1119(00)00372-3 DOI 10.1016/j.bcp.2009.06.005 http://dx.doi.org/10.1016/j.bcp.2009.06.005 DOI 10.1021/ac035352d http://dx.doi.org/10.1021/ac035352d 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 10.1073/pnas.2436191100 http://dx.doi.org/10.1073/pnas.2436191100 DOI 10.1074/jbc.272.46.29083 http://dx.doi.org/10.1074/jbc.272.46.29083 DOI 10.1074/jbc.272.7.4230 http://dx.doi.org/10.1074/jbc.272.7.4230 DOI 10.1074/jbc.273.11.6446 http://dx.doi.org/10.1074/jbc.273.11.6446 DOI 10.1074/jbc.M111842200 http://dx.doi.org/10.1074/jbc.M111842200 DOI 10.1084/jem.184.4.1365 http://dx.doi.org/10.1084/jem.184.4.1365 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1128/MCB.16.7.3327 http://dx.doi.org/10.1128/MCB.16.7.3327 DOI 10.1128/MCB.18.6.3540 http://dx.doi.org/10.1128/MCB.18.6.3540 EMBL AK292682 http://www.ebi.ac.uk/ena/data/view/AK292682 EMBL AL022098 http://www.ebi.ac.uk/ena/data/view/AL022098 EMBL AL136139 http://www.ebi.ac.uk/ena/data/view/AL136139 EMBL AL136139 http://www.ebi.ac.uk/ena/data/view/AL136139 EMBL AL136139 http://www.ebi.ac.uk/ena/data/view/AL136139 EMBL AL136139 http://www.ebi.ac.uk/ena/data/view/AL136139 EMBL AL139807 http://www.ebi.ac.uk/ena/data/view/AL139807 EMBL AL139807 http://www.ebi.ac.uk/ena/data/view/AL139807 EMBL AL139807 http://www.ebi.ac.uk/ena/data/view/AL139807 EMBL AL139807 http://www.ebi.ac.uk/ena/data/view/AL139807 EMBL AL512382 http://www.ebi.ac.uk/ena/data/view/AL512382 EMBL BC020686 http://www.ebi.ac.uk/ena/data/view/BC020686 EMBL BC040207 http://www.ebi.ac.uk/ena/data/view/BC040207 EMBL CH471087 http://www.ebi.ac.uk/ena/data/view/CH471087 EMBL CH471087 http://www.ebi.ac.uk/ena/data/view/CH471087 EMBL L43821 http://www.ebi.ac.uk/ena/data/view/L43821 EMBL U64317 http://www.ebi.ac.uk/ena/data/view/U64317 Ensembl ENST00000379433 http://www.ensembl.org/id/ENST00000379433 Ensembl ENST00000379446 http://www.ensembl.org/id/ENST00000379446 Ensembl ENST00000504387 http://www.ensembl.org/id/ENST00000504387 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: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:0005819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005819 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:0030027 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030027 GO_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 GO_process GO:0007067 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007067 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:0007229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007229 GO_process GO:0040008 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0040008 GO_process GO:0051017 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051017 GO_process GO:0051301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051301 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:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 GOslim_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 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: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:0051301 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051301 GeneCards NEDD9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NEDD9 GeneID 4739 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4739 GeneTree ENSGT00490000043324 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00490000043324 HGNC HGNC:7733 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7733 HOGENOM HOG000261698 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000261698&db=HOGENOM6 HOVERGEN HBG004354 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004354&db=HOVERGEN HPA CAB009720 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009720 HPA HPA038768 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038768 HPA HPA039270 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039270 InParanoid Q14511 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q14511 IntAct Q14511 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q14511* InterPro IPR001452 http://www.ebi.ac.uk/interpro/entry/IPR001452 InterPro IPR014928 http://www.ebi.ac.uk/interpro/entry/IPR014928 InterPro IPR021901 http://www.ebi.ac.uk/interpro/entry/IPR021901 Jabion 4739 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4739 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:4739 http://www.genome.jp/dbget-bin/www_bget?hsa:4739 KEGG_Orthology KO:K16832 http://www.genome.jp/dbget-bin/www_bget?KO:K16832 MIM 602265 http://www.ncbi.nlm.nih.gov/omim/602265 MINT MINT-1175514 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1175514 OMA YEYPSRY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YEYPSRY PDB 2L81 http://www.ebi.ac.uk/pdbe-srv/view/entry/2L81 PDBsum 2L81 http://www.ebi.ac.uk/pdbsum/2L81 PROSITE PS50002 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50002 PSORT swissprot:CASL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CASL_HUMAN PSORT-B swissprot:CASL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CASL_HUMAN PSORT2 swissprot:CASL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CASL_HUMAN Pfam PF08824 http://pfam.xfam.org/family/PF08824 Pfam PF12026 http://pfam.xfam.org/family/PF12026 Pfam PF14604 http://pfam.xfam.org/family/PF14604 PharmGKB PA31538 http://www.pharmgkb.org/do/serve?objId=PA31538&objCls=Gene Phobius swissprot:CASL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CASL_HUMAN PhylomeDB Q14511 http://phylomedb.org/?seqid=Q14511 ProteinModelPortal Q14511 http://www.proteinmodelportal.org/query/uniprot/Q14511 PubMed 10502414 http://www.ncbi.nlm.nih.gov/pubmed/10502414 PubMed 10508479 http://www.ncbi.nlm.nih.gov/pubmed/10508479 PubMed 11054566 http://www.ncbi.nlm.nih.gov/pubmed/11054566 PubMed 11827972 http://www.ncbi.nlm.nih.gov/pubmed/11827972 PubMed 12522270 http://www.ncbi.nlm.nih.gov/pubmed/12522270 PubMed 14574404 http://www.ncbi.nlm.nih.gov/pubmed/14574404 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15144186 http://www.ncbi.nlm.nih.gov/pubmed/15144186 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19539609 http://www.ncbi.nlm.nih.gov/pubmed/19539609 PubMed 22814378 http://www.ncbi.nlm.nih.gov/pubmed/22814378 PubMed 8668148 http://www.ncbi.nlm.nih.gov/pubmed/8668148 PubMed 8879209 http://www.ncbi.nlm.nih.gov/pubmed/8879209 PubMed 9020138 http://www.ncbi.nlm.nih.gov/pubmed/9020138 PubMed 9360983 http://www.ncbi.nlm.nih.gov/pubmed/9360983 PubMed 9497377 http://www.ncbi.nlm.nih.gov/pubmed/9497377 PubMed 9584194 http://www.ncbi.nlm.nih.gov/pubmed/9584194 RefSeq NP_001135865 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135865 RefSeq NP_001257962 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001257962 RefSeq NP_006394 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006394 RefSeq NP_892011 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_892011 SMART SM00326 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00326 SMR Q14511 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q14511 STRING 9606.ENSP00000368759 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000368759&targetmode=cogs SUPFAM SSF50044 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50044 UCSC uc003mzv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003mzv&org=rat UniGene Hs.37982 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.37982 UniProtKB CASL_HUMAN http://www.uniprot.org/uniprot/CASL_HUMAN UniProtKB-AC Q14511 http://www.uniprot.org/uniprot/Q14511 charge swissprot:CASL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CASL_HUMAN eggNOG ENOG410IEDD http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IEDD eggNOG ENOG410ZSUM http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZSUM epestfind swissprot:CASL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CASL_HUMAN garnier swissprot:CASL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CASL_HUMAN helixturnhelix swissprot:CASL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CASL_HUMAN hmoment swissprot:CASL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CASL_HUMAN iep swissprot:CASL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CASL_HUMAN inforesidue swissprot:CASL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CASL_HUMAN neXtProt NX_Q14511 http://www.nextprot.org/db/entry/NX_Q14511 octanol swissprot:CASL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CASL_HUMAN pepcoil swissprot:CASL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CASL_HUMAN pepdigest swissprot:CASL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CASL_HUMAN pepinfo swissprot:CASL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CASL_HUMAN pepnet swissprot:CASL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CASL_HUMAN pepstats swissprot:CASL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CASL_HUMAN pepwheel swissprot:CASL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CASL_HUMAN pepwindow swissprot:CASL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CASL_HUMAN sigcleave swissprot:CASL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CASL_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ALG5_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y673-1; Sequence=Displayed; Name=2; IsoId=Q9Y673-2; Sequence=VSP_041019; Note=No experimental confirmation available.; # AltName ALG5_HUMAN Asparagine-linked glycosylation protein 5 homolog # BioGrid 118935 12 # CATALYTIC ACTIVITY ALG5_HUMAN UDP-glucose + dolichyl phosphate = UDP + dolichyl beta-D-glucosyl phosphate. # CAZy GT2 Glycosyltransferase Family 2 # CCDS CCDS45033 -. [Q9Y673-2] # CCDS CCDS9361 -. [Q9Y673-1] # ChiTaRS ALG5 human # Ensembl ENST00000239891 ENSP00000239891; ENSG00000120697. [Q9Y673-1] # Ensembl ENST00000443765 ENSP00000390533; ENSG00000120697. [Q9Y673-2] # GO_component GO:0005789 endoplasmic reticulum membrane; IBA:GO_Central. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity; IBA:GO_Central. # GO_function GO:0004576 oligosaccharyl transferase activity; TAS:ProtInc. # GO_function GO:0004581 dolichyl-phosphate beta-glucosyltransferase activity; TAS:Reactome. # GO_function GO:0004582 dolichyl-phosphate beta-D-mannosyltransferase activity; IBA:GO_Central. # GO_process GO:0006486 protein glycosylation; TAS:ProtInc. # GO_process GO:0006487 protein N-linked glycosylation; IBA:GO_Central. # GO_process GO:0006506 GPI anchor biosynthetic process; IBA:GO_Central. # GO_process GO:0007368 determination of left/right symmetry; IEA:Ensembl. # GO_process GO:0018279 protein N-linked glycosylation via asparagine; TAS:Reactome. # GO_process GO:0019348 dolichol metabolic process; IBA:GO_Central. # GO_process GO:0035269 protein O-linked mannosylation; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016757 transferase activity, transferring glycosyl groups # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0044281 small molecule metabolic process # Gene3D 3.90.550.10 -; 1. # Genevisible Q9Y673 HS # HGNC HGNC:20266 ALG5 # InterPro IPR001173 Glyco_trans_2-like # InterPro IPR029044 Nucleotide-diphossugar_trans # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01003 Glycosyltransferases # KEGG_Pathway ko00510 N-Glycan biosynthesis # MIM 604565 gene # Organism ALG5_HUMAN Homo sapiens (Human) # PATHWAY ALG5_HUMAN Protein modification; protein glycosylation. # PIR T51776 T51776 # Pfam PF00535 Glycos_transf_2 # Proteomes UP000005640 Chromosome 13 # Reactome R-HSA-480985 Synthesis of dolichyl-phosphate-glucose # RecName ALG5_HUMAN Dolichyl-phosphate beta-glucosyltransferase # RefSeq NP_001135836 NM_001142364.1. [Q9Y673-2] # RefSeq NP_037470 NM_013338.4. [Q9Y673-1] # SIMILARITY Belongs to the glycosyltransferase 2 family. {ECO 0000305}. # SUBCELLULAR LOCATION ALG5_HUMAN Endoplasmic reticulum membrane {ECO 0000250}; Single-pass type II membrane protein {ECO 0000250}. # SUPFAM SSF53448 SSF53448 # TISSUE SPECIFICITY ALG5_HUMAN Expressed in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung. # UCSC uc001uvy human. [Q9Y673-1] # eggNOG COG0463 LUCA # eggNOG KOG2977 Eukaryota BLAST swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ALG5_HUMAN BioCyc ZFISH:HS04424-MONOMER http://biocyc.org/getid?id=ZFISH:HS04424-MONOMER COG COG0463 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0463 COXPRESdb 29880 http://coxpresdb.jp/data/gene/29880.shtml CleanEx HS_ALG5 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ALG5 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/nature02379 http://dx.doi.org/10.1038/nature02379 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.96.12.6982 http://dx.doi.org/10.1073/pnas.96.12.6982 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 EC_number EC:2.4.1.117 http://www.genome.jp/dbget-bin/www_bget?EC:2.4.1.117 EMBL AF102850 http://www.ebi.ac.uk/ena/data/view/AF102850 EMBL AF161498 http://www.ebi.ac.uk/ena/data/view/AF161498 EMBL AK299085 http://www.ebi.ac.uk/ena/data/view/AK299085 EMBL AL138706 http://www.ebi.ac.uk/ena/data/view/AL138706 EMBL BC012531 http://www.ebi.ac.uk/ena/data/view/BC012531 EMBL CH471075 http://www.ebi.ac.uk/ena/data/view/CH471075 ENZYME 2.4.1.117 http://enzyme.expasy.org/EC/2.4.1.117 Ensembl ENST00000239891 http://www.ensembl.org/id/ENST00000239891 Ensembl ENST00000443765 http://www.ensembl.org/id/ENST00000443765 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_function GO:0004169 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004169 GO_function GO:0004576 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004576 GO_function GO:0004581 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004581 GO_function GO:0004582 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004582 GO_process GO:0006486 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006486 GO_process GO:0006487 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006487 GO_process GO:0006506 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006506 GO_process GO:0007368 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007368 GO_process GO:0018279 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018279 GO_process GO:0019348 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019348 GO_process GO:0035269 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035269 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016757 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016757 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: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 3.90.550.10 http://www.cathdb.info/version/latest/superfamily/3.90.550.10 GeneCards ALG5 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ALG5 GeneID 29880 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29880 GeneTree ENSGT00550000074941 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074941 HGNC HGNC:20266 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:20266 HOGENOM HOG000283250 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000283250&db=HOGENOM6 HOVERGEN HBG024330 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG024330&db=HOVERGEN HPA HPA007989 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA007989 InParanoid Q9Y673 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9Y673 IntAct Q9Y673 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9Y673* IntEnz 2.4.1.117 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.4.1.117 InterPro IPR001173 http://www.ebi.ac.uk/interpro/entry/IPR001173 InterPro IPR029044 http://www.ebi.ac.uk/interpro/entry/IPR029044 Jabion 29880 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=29880 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_Brite ko01003 http://www.genome.jp/dbget-bin/www_bget?ko01003 KEGG_Gene hsa:29880 http://www.genome.jp/dbget-bin/www_bget?hsa:29880 KEGG_Orthology KO:K00729 http://www.genome.jp/dbget-bin/www_bget?KO:K00729 KEGG_Pathway ko00510 http://www.genome.jp/kegg-bin/show_pathway?ko00510 KEGG_Reaction rn:R01005 http://www.genome.jp/dbget-bin/www_bget?rn:R01005 MIM 604565 http://www.ncbi.nlm.nih.gov/omim/604565 OMA FIRLRYM http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FIRLRYM OrthoDB EOG091G0C84 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C84 PSORT swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ALG5_HUMAN PSORT-B swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ALG5_HUMAN PSORT2 swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ALG5_HUMAN Pfam PF00535 http://pfam.xfam.org/family/PF00535 PharmGKB PA134977026 http://www.pharmgkb.org/do/serve?objId=PA134977026&objCls=Gene Phobius swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ALG5_HUMAN PhylomeDB Q9Y673 http://phylomedb.org/?seqid=Q9Y673 ProteinModelPortal Q9Y673 http://www.proteinmodelportal.org/query/uniprot/Q9Y673 PubMed 10359825 http://www.ncbi.nlm.nih.gov/pubmed/10359825 PubMed 11042152 http://www.ncbi.nlm.nih.gov/pubmed/11042152 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 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-480985 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-480985 RefSeq NP_001135836 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001135836 RefSeq NP_037470 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_037470 STRING 9606.ENSP00000239891 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000239891&targetmode=cogs STRING COG0463 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0463&targetmode=cogs SUPFAM SSF53448 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53448 UCSC uc001uvy http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001uvy&org=rat UniGene Hs.507769 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.507769 UniProtKB ALG5_HUMAN http://www.uniprot.org/uniprot/ALG5_HUMAN UniProtKB-AC Q9Y673 http://www.uniprot.org/uniprot/Q9Y673 charge swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ALG5_HUMAN eggNOG COG0463 http://eggnogapi.embl.de/nog_data/html/tree/COG0463 eggNOG KOG2977 http://eggnogapi.embl.de/nog_data/html/tree/KOG2977 epestfind swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ALG5_HUMAN garnier swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ALG5_HUMAN helixturnhelix swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ALG5_HUMAN hmoment swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ALG5_HUMAN iep swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ALG5_HUMAN inforesidue swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ALG5_HUMAN neXtProt NX_Q9Y673 http://www.nextprot.org/db/entry/NX_Q9Y673 octanol swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ALG5_HUMAN pepcoil swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ALG5_HUMAN pepdigest swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ALG5_HUMAN pepinfo swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ALG5_HUMAN pepnet swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ALG5_HUMAN pepstats swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ALG5_HUMAN pepwheel swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ALG5_HUMAN pepwindow swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ALG5_HUMAN sigcleave swissprot:ALG5_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ALG5_HUMAN ## Database ID URL or Descriptions # AltName Cationic antimicrobial protein CAP37 {ECO:0000303|PubMed 2226832} # AltName Heparin-binding protein {ECO:0000303|PubMed 2026172} # BioGrid 107043 14 # CDD cd00190 Tryp_SPc # Ensembl ENST00000233997 ENSP00000233997; ENSG00000172232 # Ensembl ENST00000620695 ENSP00000479183; ENSG00000278624 # ExpressionAtlas P20160 baseline and differential # FUNCTION CAP7_HUMAN This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram- negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-nagative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G. {ECO 0000269|PubMed 1399008, ECO 0000269|PubMed 1937776, ECO 0000269|PubMed 2312733}. # GO_component GO:0005576 extracellular region; NAS:UniProtKB. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0019898 extrinsic component of membrane; IDA:UniProtKB. # GO_component GO:0035577 azurophil granule membrane; IDA:UniProtKB. # GO_component GO:0042582 azurophil granule; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004252 serine-type endopeptidase activity; IBA:GO_Central. # GO_function GO:0008201 heparin binding; IMP:UniProtKB. # GO_function GO:0008233 peptidase activity; IDA:UniProtKB. # GO_function GO:0015643 toxic substance binding; NAS:UniProtKB. # GO_function GO:0043395 heparan sulfate proteoglycan binding; IDA:UniProtKB. # GO_process GO:0001774 microglial cell activation; IEP:UniProtKB. # GO_process GO:0006508 proteolysis; IDA:UniProtKB. # GO_process GO:0006954 inflammatory response; NAS:UniProtKB. # GO_process GO:0007205 protein kinase C-activating G-protein coupled receptor signaling pathway; TAS:UniProtKB. # GO_process GO:0008347 glial cell migration; IDA:UniProtKB. # GO_process GO:0010628 positive regulation of gene expression; IMP:UniProtKB. # GO_process GO:0010800 positive regulation of peptidyl-threonine phosphorylation; IDA:UniProtKB. # GO_process GO:0016485 protein processing; IBA:GO_Central. # GO_process GO:0019730 antimicrobial humoral response; IMP:UniProtKB. # GO_process GO:0035584 calcium-mediated signaling using intracellular calcium source; IGI:UniProtKB. # GO_process GO:0042117 monocyte activation; TAS:UniProtKB. # GO_process GO:0042535 positive regulation of tumor necrosis factor biosynthetic process; IDA:UniProtKB. # GO_process GO:0043066 negative regulation of apoptotic process; NAS:UniProtKB. # GO_process GO:0043114 regulation of vascular permeability; NAS:UniProtKB. # GO_process GO:0045123 cellular extravasation; NAS:UniProtKB. # GO_process GO:0045348 positive regulation of MHC class II biosynthetic process; IEP:UniProtKB. # GO_process GO:0045785 positive regulation of cell adhesion; IDA:UniProtKB. # GO_process GO:0045860 positive regulation of protein kinase activity; IDA:UniProtKB. # GO_process GO:0048246 macrophage chemotaxis; NAS:UniProtKB. # GO_process GO:0050725 positive regulation of interleukin-1 beta biosynthetic process; IDA:UniProtKB. # GO_process GO:0050754 positive regulation of fractalkine biosynthetic process; IDA:UniProtKB. # GO_process GO:0050766 positive regulation of phagocytosis; IDA:UniProtKB. # GO_process GO:0050829 defense response to Gram-negative bacterium; TAS:UniProtKB. # GO_process GO:0050930 induction of positive chemotaxis; NAS:UniProtKB. # GO_process GO:0051607 defense response to virus; IMP:UniProtKB. # GO_process GO:0060326 cell chemotaxis; IMP:UniProtKB. # GO_process GO:0070528 protein kinase C signaling; IMP:UniProtKB. # GO_process GO:0070944 neutrophil mediated killing of bacterium; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005576 extracellular region # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005764 lysosome # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0008233 peptidase activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0003013 circulatory system process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # GOslim_process GO:0048870 cell motility # GOslim_process GO:0051604 protein maturation # Genevisible P20160 HS # HGNC HGNC:913 AZU1 # IntAct P20160 2 # InterPro IPR001254 Trypsin_dom # InterPro IPR001314 Peptidase_S1A # InterPro IPR009003 Peptidase_S1_PA # MIM 162815 gene # Organism CAP7_HUMAN Homo sapiens (Human) # PDB 1A7S X-ray; 1.12 A; A=27-251 # PDB 1AE5 X-ray; 2.30 A; A=27-251 # PDB 1FY1 X-ray; 2.50 A; A=27-251 # PDB 1FY3 X-ray; 1.89 A; A=27-251 # PIR A46268 TRHUAZ # PRINTS PR00722 CHYMOTRYPSIN # PROSITE PS50240 TRYPSIN_DOM # PTM CAP7_HUMAN Cleavage of the N-terminal propeptide which is composed of 7 amino acids occurs in two steps. The initial cleavage of 5 amino acids is followed by the cleavage of a dipeptide to produce the mature form. {ECO 0000269|PubMed 10534120}. # Pfam PF00089 Trypsin # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-6798695 Neutrophil degranulation # RecName Azurocidin {ECO:0000303|PubMed 2501794} # RefSeq NP_001691 NM_001700.4 # SIMILARITY Belongs to the peptidase S1 family. Elastase subfamily. {ECO:0000255|PROSITE-ProRule PRU00274}. # SIMILARITY Contains 1 peptidase S1 domain. {ECO:0000255|PROSITE- ProRule PRU00274}. # SMART SM00020 Tryp_SPc # SUBCELLULAR LOCATION CAP7_HUMAN Cytoplasmic granule membrane {ECO 0000269|PubMed 2312733, ECO 0000269|PubMed 2501794}; Peripheral membrane protein {ECO 0000269|PubMed 2312733}; Cytoplasmic side {ECO 0000269|PubMed 2312733}. Note=Localizes to azurophil granules of neutrophil granulocytes. Also called primary granules, these specialized lysosomes of the neutrophil formed early during promyelocyte development store antibacterial proteins and peptides. {ECO 0000269|PubMed 2312733, ECO 0000269|PubMed 2501794}. # SUPFAM SSF50494 SSF50494 # UCSC uc002lpz human # eggNOG COG5640 LUCA # eggNOG KOG3627 Eukaryota BLAST swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CAP7_HUMAN BioCyc ZFISH:ENSG00000172232-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000172232-MONOMER COXPRESdb 566 http://coxpresdb.jp/data/gene/566.shtml CleanEx HS_AZU1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AZU1 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1016/0003-9861(91)90042-H http://dx.doi.org/10.1016/0003-9861(91)90042-H DOI 10.1016/0006-291X(91)91843-2 http://dx.doi.org/10.1016/0006-291X(91)91843-2 DOI 10.1016/0014-5793(90)80484-Z http://dx.doi.org/10.1016/0014-5793(90)80484-Z DOI 10.1016/0024-3205(90)90104-Y http://dx.doi.org/10.1016/0024-3205(90)90104-Y 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/nsb0497-265 http://dx.doi.org/10.1038/nsb0497-265 DOI 10.1073/pnas.86.14.5610 http://dx.doi.org/10.1073/pnas.86.14.5610 DOI 10.1073/pnas.89.17.8215 http://dx.doi.org/10.1073/pnas.89.17.8215 DOI 10.1073/pnas.90.10.4733 http://dx.doi.org/10.1073/pnas.90.10.4733 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1107/S0907444997016193 http://dx.doi.org/10.1107/S0907444997016193 DOI 10.1111/j.1432-1033.1991.tb15942.x http://dx.doi.org/10.1111/j.1432-1033.1991.tb15942.x DOI 10.1172/JCI114518 http://dx.doi.org/10.1172/JCI114518 DOI 10.1172/JCI114593 http://dx.doi.org/10.1172/JCI114593 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC004799 http://www.ebi.ac.uk/ena/data/view/AC004799 EMBL BC069495 http://www.ebi.ac.uk/ena/data/view/BC069495 EMBL BC093931 http://www.ebi.ac.uk/ena/data/view/BC093931 EMBL BC093933 http://www.ebi.ac.uk/ena/data/view/BC093933 EMBL M96326 http://www.ebi.ac.uk/ena/data/view/M96326 EMBL X58794 http://www.ebi.ac.uk/ena/data/view/X58794 Ensembl ENST00000233997 http://www.ensembl.org/id/ENST00000233997 Ensembl ENST00000620695 http://www.ensembl.org/id/ENST00000620695 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:0019898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019898 GO_component GO:0035577 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035577 GO_component GO:0042582 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042582 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:0008201 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008201 GO_function GO:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 GO_function GO:0015643 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015643 GO_function GO:0043395 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043395 GO_process GO:0001774 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001774 GO_process GO:0006508 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006508 GO_process GO:0006954 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006954 GO_process GO:0007205 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007205 GO_process GO:0008347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008347 GO_process GO:0010628 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628 GO_process GO:0010800 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010800 GO_process GO:0016485 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016485 GO_process GO:0019730 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019730 GO_process GO:0035584 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035584 GO_process GO:0042117 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042117 GO_process GO:0042535 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042535 GO_process GO:0043066 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043066 GO_process GO:0043114 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043114 GO_process GO:0045123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045123 GO_process GO:0045348 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045348 GO_process GO:0045785 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045785 GO_process GO:0045860 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045860 GO_process GO:0048246 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048246 GO_process GO:0050725 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050725 GO_process GO:0050754 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050754 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:0050930 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050930 GO_process GO:0051607 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051607 GO_process GO:0060326 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060326 GO_process GO:0070528 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070528 GO_process GO:0070944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070944 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:0005764 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005764 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:0008233 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008233 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: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:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 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 GeneCards AZU1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AZU1 GeneID 566 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=566 GeneTree ENSGT00760000118895 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118895 HGNC HGNC:913 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:913 HOGENOM HOG000251820 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000251820&db=HOGENOM6 HOVERGEN HBG013304 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG013304&db=HOVERGEN HPA HPA055851 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055851 InParanoid P20160 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P20160 IntAct P20160 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P20160* 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 Jabion 566 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=566 KEGG_Gene hsa:566 http://www.genome.jp/dbget-bin/www_bget?hsa:566 MIM 162815 http://www.ncbi.nlm.nih.gov/omim/162815 MINT MINT-4054423 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4054423 OMA KARPRQF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KARPRQF OrthoDB EOG091G0DF7 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0DF7 PDB 1A7S http://www.ebi.ac.uk/pdbe-srv/view/entry/1A7S PDB 1AE5 http://www.ebi.ac.uk/pdbe-srv/view/entry/1AE5 PDB 1FY1 http://www.ebi.ac.uk/pdbe-srv/view/entry/1FY1 PDB 1FY3 http://www.ebi.ac.uk/pdbe-srv/view/entry/1FY3 PDBsum 1A7S http://www.ebi.ac.uk/pdbsum/1A7S PDBsum 1AE5 http://www.ebi.ac.uk/pdbsum/1AE5 PDBsum 1FY1 http://www.ebi.ac.uk/pdbsum/1FY1 PDBsum 1FY3 http://www.ebi.ac.uk/pdbsum/1FY3 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 PS50240 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50240 PSORT swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CAP7_HUMAN PSORT-B swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CAP7_HUMAN PSORT2 swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CAP7_HUMAN Pfam PF00089 http://pfam.xfam.org/family/PF00089 PharmGKB PA25206 http://www.pharmgkb.org/do/serve?objId=PA25206&objCls=Gene Phobius swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CAP7_HUMAN PhylomeDB P20160 http://phylomedb.org/?seqid=P20160 ProteinModelPortal P20160 http://www.proteinmodelportal.org/query/uniprot/P20160 PubMed 10534120 http://www.ncbi.nlm.nih.gov/pubmed/10534120 PubMed 1399008 http://www.ncbi.nlm.nih.gov/pubmed/1399008 PubMed 15057824 http://www.ncbi.nlm.nih.gov/pubmed/15057824 PubMed 1518849 http://www.ncbi.nlm.nih.gov/pubmed/1518849 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 1755383 http://www.ncbi.nlm.nih.gov/pubmed/1755383 PubMed 1897955 http://www.ncbi.nlm.nih.gov/pubmed/1897955 PubMed 19159218 http://www.ncbi.nlm.nih.gov/pubmed/19159218 PubMed 1919011 http://www.ncbi.nlm.nih.gov/pubmed/1919011 PubMed 1937776 http://www.ncbi.nlm.nih.gov/pubmed/1937776 PubMed 2026172 http://www.ncbi.nlm.nih.gov/pubmed/2026172 PubMed 2049091 http://www.ncbi.nlm.nih.gov/pubmed/2049091 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 2226832 http://www.ncbi.nlm.nih.gov/pubmed/2226832 PubMed 2312733 http://www.ncbi.nlm.nih.gov/pubmed/2312733 PubMed 2332502 http://www.ncbi.nlm.nih.gov/pubmed/2332502 PubMed 2404977 http://www.ncbi.nlm.nih.gov/pubmed/2404977 PubMed 2406527 http://www.ncbi.nlm.nih.gov/pubmed/2406527 PubMed 2501794 http://www.ncbi.nlm.nih.gov/pubmed/2501794 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 8506327 http://www.ncbi.nlm.nih.gov/pubmed/8506327 PubMed 9095193 http://www.ncbi.nlm.nih.gov/pubmed/9095193 PubMed 9761855 http://www.ncbi.nlm.nih.gov/pubmed/9761855 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_001691 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001691 SMART SM00020 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00020 SMR P20160 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P20160 STRING 9606.ENSP00000233997 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000233997&targetmode=cogs SUPFAM SSF50494 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50494 UCSC uc002lpz http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002lpz&org=rat UniGene Hs.72885 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.72885 UniProtKB CAP7_HUMAN http://www.uniprot.org/uniprot/CAP7_HUMAN UniProtKB-AC P20160 http://www.uniprot.org/uniprot/P20160 charge swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CAP7_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:CAP7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CAP7_HUMAN garnier swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CAP7_HUMAN helixturnhelix swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CAP7_HUMAN hmoment swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CAP7_HUMAN iep swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CAP7_HUMAN inforesidue swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CAP7_HUMAN neXtProt NX_P20160 http://www.nextprot.org/db/entry/NX_P20160 octanol swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CAP7_HUMAN pepcoil swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CAP7_HUMAN pepdigest swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CAP7_HUMAN pepinfo swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CAP7_HUMAN pepnet swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CAP7_HUMAN pepstats swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CAP7_HUMAN pepwheel swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CAP7_HUMAN pepwindow swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CAP7_HUMAN sigcleave swissprot:CAP7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CAP7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZN213_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14771-1; Sequence=Displayed; Name=2; IsoId=O14771-2; Sequence=VSP_055942, VSP_055943; Note=No experimental confirmation available.; # AltName ZN213_HUMAN Putative transcription factor CR53 # AltName ZN213_HUMAN Zinc finger protein with KRAB and SCAN domains 21 # BioGrid 113543 8 # CCDS CCDS10495 -. [O14771-1] # CDD cd07765 KRAB_A-box # Ensembl ENST00000396878 ENSP00000380087; ENSG00000085644. [O14771-1] # Ensembl ENST00000416391 ENSP00000403892; ENSG00000085644. [O14771-1] # Ensembl ENST00000574902 ENSP00000460157; ENSG00000085644. [O14771-1] # Ensembl ENST00000576416 ENSP00000459177; ENSG00000085644. [O14771-1] # ExpressionAtlas O14771 baseline and differential # FUNCTION ZN213_HUMAN May be involved in transcriptional regulation. # GO_component GO:0005634 nucleus; IBA:GO_Central. # GO_function GO:0003700 transcription factor activity, sequence-specific DNA binding; IBA:GO_Central. # GO_function GO:0043565 sequence-specific DNA binding; IBA:GO_Central. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GOslim_component GO:0005634 nucleus # GOslim_function GO:0001071 nucleic acid binding transcription factor activity # GOslim_function GO:0003677 DNA binding # GOslim_function GO:0043167 ion binding # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Gene3D 3.30.160.60 -; 5. # Genevisible O14771 HS # HGNC HGNC:13005 ZNF213 # InterPro IPR001909 KRAB # InterPro IPR003309 SCAN_dom # InterPro IPR007087 Znf_C2H2 # InterPro IPR008916 Retrov_capsid_C # InterPro IPR013087 Znf_C2H2/integrase_DNA-bd # InterPro IPR015880 Znf_C2H2-like # KEGG_Brite ko03000 Transcription factors # MIM 608387 gene # Organism ZN213_HUMAN Homo sapiens (Human) # PROSITE PS00028 ZINC_FINGER_C2H2_1; 5 # PROSITE PS50157 ZINC_FINGER_C2H2_2; 5 # PROSITE PS50804 SCAN_BOX # PROSITE PS50805 KRAB # Pfam PF00096 zf-C2H2; 2 # Pfam PF01352 KRAB # Pfam PF02023 SCAN # Proteomes UP000005640 Chromosome 16 # Reactome R-HSA-212436 Generic Transcription Pathway # RecName ZN213_HUMAN Zinc finger protein 213 # RefSeq NP_001128127 NM_001134655.1. [O14771-1] # RefSeq NP_004211 NM_004220.2. [O14771-1] # SEQUENCE CAUTION Sequence=AAB70531.1; Type=Frameshift; Positions=400, 405, 457; Evidence={ECO 0000305}; # SIMILARITY Belongs to the krueppel C2H2-type zinc-finger protein family. {ECO 0000305}. # SIMILARITY Contains 1 KRAB domain. {ECO:0000255|PROSITE- ProRule PRU00119}. # SIMILARITY Contains 1 SCAN box domain. {ECO:0000255|PROSITE- ProRule PRU00187}. # SIMILARITY Contains 5 C2H2-type zinc fingers. {ECO:0000255|PROSITE-ProRule PRU00042}. # SMART SM00349 KRAB # SMART SM00355 ZnF_C2H2; 5 # SMART SM00431 SCAN # SUBCELLULAR LOCATION ZN213_HUMAN Nucleus {ECO 0000255|PROSITE- ProRule PRU00187}. # SUPFAM SSF109640 SSF109640 # SUPFAM SSF47353 SSF47353 # TISSUE SPECIFICITY Widely expressed with highest levels in testis. {ECO:0000269|PubMed 10023065}. # UCSC uc010bth human. [O14771-1] # eggNOG COG5048 LUCA # eggNOG KOG1721 Eukaryota BLAST swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZN213_HUMAN BioCyc ZFISH:ENSG00000085644-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000085644-MONOMER COXPRESdb 7760 http://coxpresdb.jp/data/gene/7760.shtml CleanEx HS_ZNF213 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ZNF213 DOI 10.1016/S0167-4781(98)00273-5 http://dx.doi.org/10.1016/S0167-4781(98)00273-5 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 EMBL AC108134 http://www.ebi.ac.uk/ena/data/view/AC108134 EMBL AF017433 http://www.ebi.ac.uk/ena/data/view/AF017433 EMBL AK289834 http://www.ebi.ac.uk/ena/data/view/AK289834 EMBL AK291789 http://www.ebi.ac.uk/ena/data/view/AK291789 EMBL AK297454 http://www.ebi.ac.uk/ena/data/view/AK297454 EMBL BC007287 http://www.ebi.ac.uk/ena/data/view/BC007287 EMBL CH471112 http://www.ebi.ac.uk/ena/data/view/CH471112 Ensembl ENST00000396878 http://www.ensembl.org/id/ENST00000396878 Ensembl ENST00000416391 http://www.ensembl.org/id/ENST00000416391 Ensembl ENST00000574902 http://www.ensembl.org/id/ENST00000574902 Ensembl ENST00000576416 http://www.ensembl.org/id/ENST00000576416 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_function GO:0003700 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003700 GO_function GO:0043565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043565 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0006351 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006351 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0001071 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001071 GOslim_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 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 3.30.160.60 http://www.cathdb.info/version/latest/superfamily/3.30.160.60 GeneCards ZNF213 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZNF213 GeneID 7760 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7760 GeneTree ENSGT00760000118881 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118881 HGNC HGNC:13005 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13005 HOGENOM HOG000234619 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234619&db=HOGENOM6 HOVERGEN HBG018163 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018163&db=HOVERGEN HPA HPA035000 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035000 HPA HPA056750 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056750 InParanoid O14771 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O14771 InterPro IPR001909 http://www.ebi.ac.uk/interpro/entry/IPR001909 InterPro IPR003309 http://www.ebi.ac.uk/interpro/entry/IPR003309 InterPro IPR007087 http://www.ebi.ac.uk/interpro/entry/IPR007087 InterPro IPR008916 http://www.ebi.ac.uk/interpro/entry/IPR008916 InterPro IPR013087 http://www.ebi.ac.uk/interpro/entry/IPR013087 InterPro IPR015880 http://www.ebi.ac.uk/interpro/entry/IPR015880 Jabion 7760 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7760 KEGG_Brite ko03000 http://www.genome.jp/dbget-bin/www_bget?ko03000 KEGG_Gene hsa:7760 http://www.genome.jp/dbget-bin/www_bget?hsa:7760 KEGG_Orthology KO:K09229 http://www.genome.jp/dbget-bin/www_bget?KO:K09229 MIM 608387 http://www.ncbi.nlm.nih.gov/omim/608387 OMA QHEDSRD http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QHEDSRD OrthoDB EOG091G09O3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09O3 PROSITE PS00028 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00028 PROSITE PS50157 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50157 PROSITE PS50804 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50804 PROSITE PS50805 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50805 PSORT swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZN213_HUMAN PSORT-B swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZN213_HUMAN PSORT2 swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZN213_HUMAN Pfam PF00096 http://pfam.xfam.org/family/PF00096 Pfam PF01352 http://pfam.xfam.org/family/PF01352 Pfam PF02023 http://pfam.xfam.org/family/PF02023 PharmGKB PA37584 http://www.pharmgkb.org/do/serve?objId=PA37584&objCls=Gene Phobius swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZN213_HUMAN PhylomeDB O14771 http://phylomedb.org/?seqid=O14771 ProteinModelPortal O14771 http://www.proteinmodelportal.org/query/uniprot/O14771 PubMed 10023065 http://www.ncbi.nlm.nih.gov/pubmed/10023065 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 Reactome R-HSA-212436 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-212436 RefSeq NP_001128127 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001128127 RefSeq NP_004211 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004211 SMART SM00349 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00349 SMART SM00355 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00355 SMART SM00431 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00431 SMR O14771 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O14771 STRING 9606.ENSP00000380087 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000380087&targetmode=cogs SUPFAM SSF109640 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF109640 SUPFAM SSF47353 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47353 UCSC uc010bth http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010bth&org=rat UniGene Hs.115284 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.115284 UniProtKB ZN213_HUMAN http://www.uniprot.org/uniprot/ZN213_HUMAN UniProtKB-AC O14771 http://www.uniprot.org/uniprot/O14771 charge swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZN213_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:ZN213_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZN213_HUMAN garnier swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZN213_HUMAN helixturnhelix swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZN213_HUMAN hmoment swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZN213_HUMAN iep swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZN213_HUMAN inforesidue swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZN213_HUMAN neXtProt NX_O14771 http://www.nextprot.org/db/entry/NX_O14771 octanol swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZN213_HUMAN pepcoil swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZN213_HUMAN pepdigest swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZN213_HUMAN pepinfo swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZN213_HUMAN pepnet swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZN213_HUMAN pepstats swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZN213_HUMAN pepwheel swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZN213_HUMAN pepwindow swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZN213_HUMAN sigcleave swissprot:ZN213_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZN213_HUMAN ## Database ID URL or Descriptions # AltName NAA11_HUMAN N-terminal acetyltransferase complex ARD1 subunit homolog B # AltName NAA11_HUMAN NatA catalytic subunit Naa11 # BRENDA 2.3.1.88 2681 # CATALYTIC ACTIVITY NAA11_HUMAN Acetyl-CoA + peptide = N(alpha)-acetylpeptide + CoA. # Ensembl ENST00000286794 ENSP00000286794; ENSG00000156269 # ExpressionAtlas Q9BSU3 baseline and differential # FUNCTION NAA11_HUMAN Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. {ECO 0000269|PubMed 16638120}. # GO_component GO:0005634 nucleus; IEA:UniProtKB-SubCell. # GO_component GO:0022626 cytosolic ribosome; IBA:GO_Central. # GO_component GO:0031415 NatA complex; IDA:UniProtKB. # GO_function GO:0004596 peptide alpha-N-acetyltransferase activity; IDA:UniProtKB. # GO_function GO:1990189 peptide-serine-N-acetyltransferase activity; IBA:GO_Central. # GO_function GO:1990190 peptide-glutamate-N-acetyltransferase activity; IBA:GO_Central. # GO_process GO:0006474 N-terminal protein amino acid acetylation; IDA:UniProtKB. # GO_process GO:0006475 internal protein amino acid acetylation; IBA:GO_Central. # GO_process GO:0017198 N-terminal peptidyl-serine acetylation; IBA:GO_Central. # GO_process GO:0018002 N-terminal peptidyl-glutamic acid acetylation; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005840 ribosome # GOslim_function GO:0016746 transferase activity, transferring acyl groups # GOslim_process GO:0006464 cellular protein modification process # Gene3D 3.40.630.30 -; 1. # Genevisible Q9BSU3 HS # HGNC HGNC:28125 NAA11 # IntAct Q9BSU3 6 # InterPro IPR000182 GNAT_dom # InterPro IPR016181 Acyl_CoA_acyltransferase # KEGG_Brite ko01000 Enzymes # Organism NAA11_HUMAN Homo sapiens (Human) # PROSITE PS51186 GNAT # Pfam PF00583 Acetyltransf_1 # Proteomes UP000005640 Chromosome 4 # RecName NAA11_HUMAN N-alpha-acetyltransferase 11 # RefSeq NP_116082 NM_032693.2 # RefSeq XP_016864266 XM_017008777.1 # RefSeq XP_016864267 XM_017008778.1 # RefSeq XP_016864268 XM_017008779.1 # SEQUENCE CAUTION Sequence=AAH04552.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH63623.1; Type=Erroneous initiation; Evidence={ECO 0000305}; Sequence=AAH80651.1; Type=Erroneous initiation; Evidence={ECO:0000305}; # SIMILARITY Belongs to the acetyltransferase family. ARD1 subfamily. {ECO 0000305}. # SIMILARITY Contains 1 N-acetyltransferase domain. {ECO:0000255|PROSITE-ProRule PRU00532}. # SUBCELLULAR LOCATION NAA11_HUMAN Cytoplasm {ECO 0000269|PubMed 16638120}. Nucleus {ECO 0000269|PubMed 16638120}. # SUBUNIT Component of the N-terminal acetyltransferase A (NatA) complex composed of NAA11 and NAA15 (Probable). Interacts with HIF1A. {ECO:0000269|PubMed 16638120, ECO:0000305}. # SUPFAM SSF55729 SSF55729 # TISSUE SPECIFICITY Present in several cell lines, with highest levels in MCF-7 cells (at protein level). {ECO:0000269|PubMed 16638120}. # UCSC uc003hlt human # eggNOG COG0456 LUCA # eggNOG KOG3235 Eukaryota BLAST swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NAA11_HUMAN BioCyc ZFISH:HS08112-MONOMER http://biocyc.org/getid?id=ZFISH:HS08112-MONOMER COXPRESdb 84779 http://coxpresdb.jp/data/gene/84779.shtml CleanEx HS_ARD1B http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ARD1B 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 10.1186/1471-2091-7-13 http://dx.doi.org/10.1186/1471-2091-7-13 DOI 10.1186/1753-6561-3-S6-S2 http://dx.doi.org/10.1186/1753-6561-3-S6-S2 EC_number EC:2.3.1.88 http://www.genome.jp/dbget-bin/www_bget?EC:2.3.1.88 EMBL BC004552 http://www.ebi.ac.uk/ena/data/view/BC004552 EMBL BC063623 http://www.ebi.ac.uk/ena/data/view/BC063623 EMBL BC080651 http://www.ebi.ac.uk/ena/data/view/BC080651 ENZYME 2.3.1.88 http://enzyme.expasy.org/EC/2.3.1.88 Ensembl ENST00000286794 http://www.ensembl.org/id/ENST00000286794 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:0022626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022626 GO_component GO:0031415 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031415 GO_function GO:0004596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004596 GO_function GO:1990189 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990189 GO_function GO:1990190 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990190 GO_process GO:0006474 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006474 GO_process GO:0006475 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006475 GO_process GO:0017198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017198 GO_process GO:0018002 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018002 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:0005840 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005840 GOslim_function GO:0016746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016746 GOslim_process GO:0006464 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464 Gene3D 3.40.630.30 http://www.cathdb.info/version/latest/superfamily/3.40.630.30 GeneCards NAA11 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NAA11 GeneID 84779 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84779 GeneTree ENSGT00550000074803 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074803 HGNC HGNC:28125 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:28125 HOGENOM HOG000078523 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000078523&db=HOGENOM6 HOVERGEN HBG050561 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050561&db=HOVERGEN HPA HPA035922 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035922 InParanoid Q9BSU3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BSU3 IntAct Q9BSU3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BSU3* IntEnz 2.3.1.88 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.1.88 InterPro IPR000182 http://www.ebi.ac.uk/interpro/entry/IPR000182 InterPro IPR016181 http://www.ebi.ac.uk/interpro/entry/IPR016181 Jabion 84779 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84779 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Gene hsa:84779 http://www.genome.jp/dbget-bin/www_bget?hsa:84779 KEGG_Orthology KO:K00670 http://www.genome.jp/dbget-bin/www_bget?KO:K00670 OMA KGHAQPG http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KGHAQPG OrthoDB EOG091G0JI1 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0JI1 PROSITE PS51186 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51186 PSORT swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NAA11_HUMAN PSORT-B swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NAA11_HUMAN PSORT2 swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NAA11_HUMAN Pfam PF00583 http://pfam.xfam.org/family/PF00583 PharmGKB PA165664264 http://www.pharmgkb.org/do/serve?objId=PA165664264&objCls=Gene Phobius swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NAA11_HUMAN PhylomeDB Q9BSU3 http://phylomedb.org/?seqid=Q9BSU3 ProteinModelPortal Q9BSU3 http://www.proteinmodelportal.org/query/uniprot/Q9BSU3 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16638120 http://www.ncbi.nlm.nih.gov/pubmed/16638120 PubMed 19660095 http://www.ncbi.nlm.nih.gov/pubmed/19660095 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 RefSeq NP_116082 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_116082 RefSeq XP_016864266 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864266 RefSeq XP_016864267 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864267 RefSeq XP_016864268 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864268 SMR Q9BSU3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BSU3 STRING 9606.ENSP00000286794 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000286794&targetmode=cogs SUPFAM SSF55729 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55729 UCSC uc003hlt http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003hlt&org=rat UniGene Hs.676048 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.676048 UniProtKB NAA11_HUMAN http://www.uniprot.org/uniprot/NAA11_HUMAN UniProtKB-AC Q9BSU3 http://www.uniprot.org/uniprot/Q9BSU3 charge swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NAA11_HUMAN eggNOG COG0456 http://eggnogapi.embl.de/nog_data/html/tree/COG0456 eggNOG KOG3235 http://eggnogapi.embl.de/nog_data/html/tree/KOG3235 epestfind swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NAA11_HUMAN garnier swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NAA11_HUMAN helixturnhelix swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NAA11_HUMAN hmoment swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NAA11_HUMAN iep swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NAA11_HUMAN inforesidue swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NAA11_HUMAN neXtProt NX_Q9BSU3 http://www.nextprot.org/db/entry/NX_Q9BSU3 octanol swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NAA11_HUMAN pepcoil swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NAA11_HUMAN pepdigest swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NAA11_HUMAN pepinfo swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NAA11_HUMAN pepnet swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NAA11_HUMAN pepstats swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NAA11_HUMAN pepwheel swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NAA11_HUMAN pepwindow swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NAA11_HUMAN sigcleave swissprot:NAA11_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NAA11_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ST65G_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O94864-1; Sequence=Displayed; Name=2; IsoId=O94864-2; Sequence=VSP_003974; Note=No experimental confirmation available.; Name=3; IsoId=O94864-4; Sequence=VSP_054839; Note=No experimental confirmation available.; # AltName ST65G_HUMAN Adenocarcinoma antigen ART1 # AltName ST65G_HUMAN SPTF-associated factor 65 gamma # AltName ST65G_HUMAN Suppressor of Ty 7-like # BioGrid 115242 27 # CCDS CCDS42667 -. [O94864-1] # CCDS CCDS62885 -. [O94864-2] # CCDS CCDS62886 -. [O94864-4] # ChiTaRS SUPT7L human # Ensembl ENST00000337768 ENSP00000336750; ENSG00000119760. [O94864-1] # Ensembl ENST00000404798 ENSP00000385218; ENSG00000119760. [O94864-4] # Ensembl ENST00000405491 ENSP00000384469; ENSG00000119760. [O94864-2] # Ensembl ENST00000406540 ENSP00000385436; ENSG00000119760. [O94864-2] # Ensembl ENST00000464789 ENSP00000441110; ENSG00000119760. [O94864-2] # GO_component GO:0005634 nucleus; NAS:UniProtKB. # GO_component GO:0030914 STAGA complex; IDA:UniProtKB. # GO_function GO:0003713 transcription coactivator activity; IDA:UniProtKB. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0006355 regulation of transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0043966 histone H3 acetylation; IDA:UniProtKB. # GO_process GO:0051457 maintenance of protein location in nucleus; IDA:HGNC. # GOslim_component GO:0005634 nucleus # GOslim_component GO:0043234 protein complex # GOslim_function GO:0000988 transcription factor activity, protein binding # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Genevisible O94864 HS # HGNC HGNC:30632 SUPT7L # IntAct O94864 6 # InterPro IPR006565 BTP # KEGG_Brite ko03021 Transcription machinery # KEGG_Brite ko03036 Chromosome # MIM 612762 gene # Organism ST65G_HUMAN Homo sapiens (Human) # PTM ST65G_HUMAN Sumoylated. {ECO 0000269|PubMed 15561718}. # Pfam PF07524 Bromo_TP # Proteomes UP000005640 Chromosome 2 # Reactome R-HSA-3214847 HATs acetylate histones # RecName ST65G_HUMAN STAGA complex 65 subunit gamma # RefSeq NP_001269658 NM_001282729.1. [O94864-1] # RefSeq NP_001269659 NM_001282730.1. [O94864-2] # RefSeq NP_001269660 NM_001282731.1. [O94864-2] # RefSeq NP_001269661 NM_001282732.1. [O94864-4] # RefSeq NP_055675 NM_014860.2. [O94864-1] # RefSeq XP_005264729 XM_005264672.4. [O94864-2] # SEQUENCE CAUTION Sequence=BAA34484.2; Type=Erroneous initiation; Evidence={ECO 0000305}; # SMART SM00576 BTP # SUBCELLULAR LOCATION ST65G_HUMAN Nucleus {ECO 0000269|PubMed 11564863}. # SUBUNIT Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, SUPT7L, GCN5L2, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12 and TAF9. {ECO:0000269|PubMed 17375202}. # TISSUE SPECIFICITY ST65G_HUMAN Expressed at high levels in adenocarcinomas and gliomas and low in esophageal cancers and malignant hematological disease. Also expressed at high level in the thymus, low in peripheral blood mononuclear cells, and lowest in the stomach, small intestine, and skeletal muscle. # UCSC uc002rli human. [O94864-1] # eggNOG ENOG410INFQ Eukaryota # eggNOG ENOG410YK24 LUCA BLAST swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ST65G_HUMAN BioCyc ZFISH:ENSG00000119760-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000119760-MONOMER COXPRESdb 9913 http://coxpresdb.jp/data/gene/9913.shtml CleanEx HS_SUPT7L http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SUPT7L 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 10.1038/nsmb.2890 http://dx.doi.org/10.1038/nsmb.2890 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M411718200 http://dx.doi.org/10.1074/jbc.M411718200 DOI 10.1074/mcp.O114.044792 http://dx.doi.org/10.1074/mcp.O114.044792 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 10.1126/scisignal.2000475 http://dx.doi.org/10.1126/scisignal.2000475 DOI 10.1128/MCB.21.20.6782-6795.2001 http://dx.doi.org/10.1128/MCB.21.20.6782-6795.2001 DOI 10.1371/journal.pone.0000316 http://dx.doi.org/10.1371/journal.pone.0000316 EMBL AB018307 http://www.ebi.ac.uk/ena/data/view/AB018307 EMBL AC074091 http://www.ebi.ac.uk/ena/data/view/AC074091 EMBL AF197954 http://www.ebi.ac.uk/ena/data/view/AF197954 EMBL AF224759 http://www.ebi.ac.uk/ena/data/view/AF224759 EMBL AK304889 http://www.ebi.ac.uk/ena/data/view/AK304889 EMBL BC074000 http://www.ebi.ac.uk/ena/data/view/BC074000 EMBL CR456983 http://www.ebi.ac.uk/ena/data/view/CR456983 Ensembl ENST00000337768 http://www.ensembl.org/id/ENST00000337768 Ensembl ENST00000404798 http://www.ensembl.org/id/ENST00000404798 Ensembl ENST00000405491 http://www.ensembl.org/id/ENST00000405491 Ensembl ENST00000406540 http://www.ensembl.org/id/ENST00000406540 Ensembl ENST00000464789 http://www.ensembl.org/id/ENST00000464789 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:0030914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030914 GO_function GO:0003713 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003713 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:0043966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043966 GO_process GO:0051457 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051457 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_component GO:0043234 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234 GOslim_function GO:0000988 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000988 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: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 SUPT7L http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SUPT7L GeneID 9913 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9913 GeneTree ENSGT00390000005572 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000005572 HGNC HGNC:30632 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30632 HOGENOM HOG000072711 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000072711&db=HOGENOM6 HOVERGEN HBG023396 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG023396&db=HOVERGEN HPA HPA039565 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA039565 HPA HPA063643 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA063643 InParanoid O94864 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O94864 IntAct O94864 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O94864* InterPro IPR006565 http://www.ebi.ac.uk/interpro/entry/IPR006565 Jabion 9913 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=9913 KEGG_Brite ko03021 http://www.genome.jp/dbget-bin/www_bget?ko03021 KEGG_Brite ko03036 http://www.genome.jp/dbget-bin/www_bget?ko03036 KEGG_Gene hsa:9913 http://www.genome.jp/dbget-bin/www_bget?hsa:9913 KEGG_Orthology KO:K11316 http://www.genome.jp/dbget-bin/www_bget?KO:K11316 MIM 612762 http://www.ncbi.nlm.nih.gov/omim/612762 MINT MINT-1428430 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1428430 OMA MRYWGEI http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MRYWGEI OrthoDB EOG091G0C0B http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0C0B PSORT swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ST65G_HUMAN PSORT-B swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ST65G_HUMAN PSORT2 swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ST65G_HUMAN Pfam PF07524 http://pfam.xfam.org/family/PF07524 PharmGKB PA142670854 http://www.pharmgkb.org/do/serve?objId=PA142670854&objCls=Gene Phobius swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ST65G_HUMAN PhylomeDB O94864 http://phylomedb.org/?seqid=O94864 ProteinModelPortal O94864 http://www.proteinmodelportal.org/query/uniprot/O94864 PubMed 10987294 http://www.ncbi.nlm.nih.gov/pubmed/10987294 PubMed 11564863 http://www.ncbi.nlm.nih.gov/pubmed/11564863 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 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17375202 http://www.ncbi.nlm.nih.gov/pubmed/17375202 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 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 25218447 http://www.ncbi.nlm.nih.gov/pubmed/25218447 PubMed 25755297 http://www.ncbi.nlm.nih.gov/pubmed/25755297 PubMed 9872452 http://www.ncbi.nlm.nih.gov/pubmed/9872452 Reactome R-HSA-3214847 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3214847 RefSeq NP_001269658 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269658 RefSeq NP_001269659 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269659 RefSeq NP_001269660 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269660 RefSeq NP_001269661 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001269661 RefSeq NP_055675 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055675 RefSeq XP_005264729 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005264729 SMART SM00576 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00576 STRING 9606.ENSP00000336750 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000336750&targetmode=cogs UCSC uc002rli http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002rli&org=rat UniGene Hs.6232 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.6232 UniProtKB ST65G_HUMAN http://www.uniprot.org/uniprot/ST65G_HUMAN UniProtKB-AC O94864 http://www.uniprot.org/uniprot/O94864 charge swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ST65G_HUMAN eggNOG ENOG410INFQ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410INFQ eggNOG ENOG410YK24 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410YK24 epestfind swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ST65G_HUMAN garnier swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ST65G_HUMAN helixturnhelix swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ST65G_HUMAN hmoment swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ST65G_HUMAN iep swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ST65G_HUMAN inforesidue swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ST65G_HUMAN neXtProt NX_O94864 http://www.nextprot.org/db/entry/NX_O94864 octanol swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ST65G_HUMAN pepcoil swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ST65G_HUMAN pepdigest swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ST65G_HUMAN pepinfo swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ST65G_HUMAN pepnet swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ST65G_HUMAN pepstats swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ST65G_HUMAN pepwheel swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ST65G_HUMAN pepwindow swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ST65G_HUMAN sigcleave swissprot:ST65G_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ST65G_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZRAB3_HUMAN Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q5FWF4-1; Sequence=Displayed; Name=2; IsoId=Q5FWF4-2; Sequence=VSP_023138, VSP_023139, VSP_023140; Note=No experimental confirmation available.; Name=3; IsoId=Q5FWF4-3; Sequence=VSP_023139; Name=4; IsoId=Q5FWF4-4; Sequence=VSP_044175, VSP_023139; Note=No experimental confirmation available.; Name=5; IsoId=Q5FWF4-5; Sequence=VSP_044176, VSP_044177, VSP_044178; Note=No experimental confirmation available.; # AltName ZRAB3_HUMAN Annealing helicase 2 # AltName ZRAB3_HUMAN Zinc finger Ran-binding domain-containing protein 3 # AltName ZRAB3_HUMAN Zinc finger Ran-binding domain-containing protein 3 # BioGrid 123877 9 # CCDS CCDS46419 -. [Q5FWF4-1] # CCDS CCDS67963 -. [Q5FWF4-3] # ChiTaRS ZRANB3 human # DOMAIN ZRAB3_HUMAN The PIP-box mediates the interaction with PCNA, while the RanBP2-type zinc finger mediates binding to 'Lys-63'-linked polyubiquitin (PubMed 22704558, PubMed 22705370 and PubMed 22759634). {ECO 0000269|PubMed 22704558, ECO 0000269|PubMed 22705370, ECO 0000269|PubMed 22759634}. # Ensembl ENST00000264159 ENSP00000264159; ENSG00000121988. [Q5FWF4-1] # Ensembl ENST00000401392 ENSP00000383979; ENSG00000121988. [Q5FWF4-3] # Ensembl ENST00000619650 ENSP00000480120; ENSG00000121988. [Q5FWF4-2] # ExpressionAtlas Q5FWF4 baseline and differential # FUNCTION ZRAB3_HUMAN DNA annealing helicase and endonuclease required to maintain genome stability at stalled or collapsed replication forks by facilitating fork restart and limiting inappropriate recombination that could occur during template switching events. Recruited to the sites of stalled DNA replication by polyubiquitinated PCNA and acts as a structure-specific endonuclease that cleaves the replication fork D-loop intermediate, generating an accessible 3'-OH group in the template of the leading strand, which is amenable to extension by DNA polymerase. In addition to endonuclease activity, also catalyzes the fork regression via annealing helicase activity in order to prevent disintegration of the replication fork and the formation of double-strand breaks. {ECO 0000269|PubMed 21078962, ECO 0000269|PubMed 22704558, ECO 0000269|PubMed 22705370, ECO 0000269|PubMed 22759634, ECO 0000269|PubMed 26884333}. # GO_component GO:0005634 nucleus; IDA:HPA. # GO_component GO:0043596 nuclear replication fork; IDA:UniProtKB. # GO_function GO:0004386 helicase activity; IEA:UniProtKB-KW. # GO_function GO:0004520 endodeoxyribonuclease activity; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0008270 zinc ion binding; IEA:InterPro. # GO_function GO:0036310 annealing helicase activity; IDA:UniProtKB. # GO_function GO:0070530 K63-linked polyubiquitin binding; IDA:UniProtKB. # GO_process GO:0006281 DNA repair; IDA:UniProtKB. # GO_process GO:0006974 cellular response to DNA damage stimulus; IDA:UniProtKB. # GO_process GO:0009411 response to UV; IDA:UniProtKB. # GO_process GO:0031297 replication fork processing; IDA:UniProtKB. # GO_process GO:0036292 DNA rewinding; IDA:UniProtKB. # GO_process GO:0045910 negative regulation of DNA recombination; IDA:UniProtKB. # GO_process GO:0048478 replication fork protection; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005634 nucleus # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0004386 helicase activity # GOslim_function GO:0004518 nuclease activity # GOslim_function GO:0032182 ubiquitin-like protein binding # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006259 DNA metabolic process # GOslim_process GO:0006950 response to stress # GOslim_process GO:0008150 biological_process # GOslim_process GO:0051276 chromosome organization # Gene3D 3.40.50.300 -; 2. # Genevisible Q5FWF4 HS # HGNC HGNC:25249 ZRANB3 # InterPro IPR000330 SNF2_N # InterPro IPR001650 Helicase_C # InterPro IPR001876 Znf_RanBP2 # InterPro IPR002711 HNH # InterPro IPR003615 HNH_nuc # InterPro IPR014001 Helicase_ATP-bd # InterPro IPR027417 P-loop_NTPase # MIM 615655 gene # MISCELLANEOUS In contrast to classical helicases that unwing DNA, annealing helicases rewind it. {ECO:0000305|PubMed 21078962}. # Organism ZRAB3_HUMAN Homo sapiens (Human) # PROSITE PS01358 ZF_RANBP2_1 # PROSITE PS50199 ZF_RANBP2_2 # PROSITE PS51192 HELICASE_ATP_BIND_1 # PROSITE PS51194 HELICASE_CTER # Pfam PF00176 SNF2_N # Pfam PF00271 Helicase_C # Pfam PF00641 zf-RanBP # Pfam PF01844 HNH # Proteomes UP000005640 Chromosome 2 # RecName ZRAB3_HUMAN DNA annealing helicase ZRANB3 # RecName ZRAB3_HUMAN DNA annealing helicase and endonuclease ZRANB3 # RecName ZRAB3_HUMAN Endonuclease ZRANB3 # RefSeq NP_001273497 NM_001286568.1. [Q5FWF4-3] # RefSeq NP_115519 NM_032143.3. [Q5FWF4-1] # RefSeq XP_005263866 XM_005263809.1. [Q5FWF4-1] # RefSeq XP_006712851 XM_006712788.1. [Q5FWF4-1] # RefSeq XP_011510260 XM_011511958.2. [Q5FWF4-1] # RefSeq XP_011510262 XM_011511960.1. [Q5FWF4-1] # RefSeq XP_011510265 XM_011511963.1. [Q5FWF4-3] # SEQUENCE CAUTION ZRAB3_HUMAN Sequence=AAX93066.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=BAG54763.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=BAG65387.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=EAX11631.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; Sequence=EAX11633.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the SNF2/RAD54 helicase family. {ECO 0000305}. # SIMILARITY Contains 1 HNH domain. {ECO 0000305}. # SIMILARITY Contains 1 RanBP2-type zinc finger. {ECO:0000255|PROSITE-ProRule PRU00322}. # SIMILARITY Contains 1 helicase ATP-binding domain. {ECO:0000255|PROSITE-ProRule PRU00541}. # SIMILARITY Contains 1 helicase C-terminal domain. {ECO:0000255|PROSITE-ProRule PRU00542}. # SMART SM00487 DEXDc # SMART SM00490 HELICc # SMART SM00507 HNHc # SMART SM00547 ZnF_RBZ # SUBCELLULAR LOCATION ZRAB3_HUMAN Nucleus. Chromosome. Note=Following DNA damage, recruited to sites of DNA damage and stalled replication forks by polyubiquitinated PCNA. # SUBUNIT ZRAB3_HUMAN Interacts (via PIP-box and RanBP2-type zinc finger) with PCNA (when PCNA is polyubiquitinated via 'Lys-63'-linked polyubiquitin). {ECO 0000269|PubMed 22704558, ECO 0000269|PubMed 22705370, ECO 0000269|PubMed 22759634}. # SUPFAM SSF52540 SSF52540; 3 # SUPFAM SSF90209 SSF90209 # UCSC uc002tul human. [Q5FWF4-1] # eggNOG COG0553 LUCA # eggNOG KOG1000 Eukaryota BLAST swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZRAB3_HUMAN COXPRESdb 84083 http://coxpresdb.jp/data/gene/84083.shtml CleanEx HS_ZRANB3 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ZRANB3 DOI 10.1016/j.molcel.2012.05.024 http://dx.doi.org/10.1016/j.molcel.2012.05.024 DOI 10.1016/j.molcel.2012.05.025 http://dx.doi.org/10.1016/j.molcel.2012.05.025 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.1011196107 http://dx.doi.org/10.1073/pnas.1011196107 DOI 10.1074/jbc.M115.709733 http://dx.doi.org/10.1074/jbc.M115.709733 DOI 10.1101/gad.193516.112 http://dx.doi.org/10.1101/gad.193516.112 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 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EC_number EC:3.1.-.- http://www.genome.jp/dbget-bin/www_bget?EC:3.1.-.- EC_number EC:3.6.4.- http://www.genome.jp/dbget-bin/www_bget?EC:3.6.4.- EMBL AC012450 http://www.ebi.ac.uk/ena/data/view/AC012450 EMBL AC016742 http://www.ebi.ac.uk/ena/data/view/AC016742 EMBL AC017031 http://www.ebi.ac.uk/ena/data/view/AC017031 EMBL AC020602 http://www.ebi.ac.uk/ena/data/view/AC020602 EMBL AC064850 http://www.ebi.ac.uk/ena/data/view/AC064850 EMBL AK095362 http://www.ebi.ac.uk/ena/data/view/AK095362 EMBL AK131303 http://www.ebi.ac.uk/ena/data/view/AK131303 EMBL AK304601 http://www.ebi.ac.uk/ena/data/view/AK304601 EMBL AL136824 http://www.ebi.ac.uk/ena/data/view/AL136824 EMBL BC064616 http://www.ebi.ac.uk/ena/data/view/BC064616 EMBL BC089429 http://www.ebi.ac.uk/ena/data/view/BC089429 EMBL BX647838 http://www.ebi.ac.uk/ena/data/view/BX647838 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 EMBL CH471058 http://www.ebi.ac.uk/ena/data/view/CH471058 ENZYME 3.1.-.- http://enzyme.expasy.org/EC/3.1.-.- ENZYME 3.6.4.- http://enzyme.expasy.org/EC/3.6.4.- Ensembl ENST00000264159 http://www.ensembl.org/id/ENST00000264159 Ensembl ENST00000401392 http://www.ensembl.org/id/ENST00000401392 Ensembl ENST00000619650 http://www.ensembl.org/id/ENST00000619650 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:0043596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043596 GO_function GO:0004386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004386 GO_function GO:0004520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004520 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:0036310 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036310 GO_function GO:0070530 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070530 GO_process GO:0006281 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006281 GO_process GO:0006974 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006974 GO_process GO:0009411 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009411 GO_process GO:0031297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031297 GO_process GO:0036292 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036292 GO_process GO:0045910 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045910 GO_process GO:0048478 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048478 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:0003674 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674 GOslim_function GO:0004386 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004386 GOslim_function GO:0004518 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004518 GOslim_function GO:0032182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032182 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: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:0051276 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051276 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards ZRANB3 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZRANB3 GeneID 84083 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=84083 GeneTree ENSGT00860000133750 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133750 HGNC HGNC:25249 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25249 HOGENOM HOG000031233 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000031233&db=HOGENOM6 HOVERGEN HBG062387 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG062387&db=HOVERGEN HPA HPA035234 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035234 HPA HPA043073 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043073 HPA HPA043301 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043301 InParanoid Q5FWF4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q5FWF4 IntEnz 3.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.1 IntEnz 3.6.4 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.4 InterPro IPR000330 http://www.ebi.ac.uk/interpro/entry/IPR000330 InterPro IPR001650 http://www.ebi.ac.uk/interpro/entry/IPR001650 InterPro IPR001876 http://www.ebi.ac.uk/interpro/entry/IPR001876 InterPro IPR002711 http://www.ebi.ac.uk/interpro/entry/IPR002711 InterPro IPR003615 http://www.ebi.ac.uk/interpro/entry/IPR003615 InterPro IPR014001 http://www.ebi.ac.uk/interpro/entry/IPR014001 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 84083 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=84083 KEGG_Gene hsa:84083 http://www.genome.jp/dbget-bin/www_bget?hsa:84083 MIM 615655 http://www.ncbi.nlm.nih.gov/omim/615655 OMA CNLNAQE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=CNLNAQE OrthoDB EOG091G0A1B http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0A1B PROSITE PS01358 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01358 PROSITE PS50199 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50199 PROSITE PS51192 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51192 PROSITE PS51194 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51194 PSORT swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZRAB3_HUMAN PSORT-B swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZRAB3_HUMAN PSORT2 swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZRAB3_HUMAN Pfam PF00176 http://pfam.xfam.org/family/PF00176 Pfam PF00271 http://pfam.xfam.org/family/PF00271 Pfam PF00641 http://pfam.xfam.org/family/PF00641 Pfam PF01844 http://pfam.xfam.org/family/PF01844 PharmGKB PA134871612 http://www.pharmgkb.org/do/serve?objId=PA134871612&objCls=Gene Phobius swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZRAB3_HUMAN PhylomeDB Q5FWF4 http://phylomedb.org/?seqid=Q5FWF4 ProteinModelPortal Q5FWF4 http://www.proteinmodelportal.org/query/uniprot/Q5FWF4 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 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 19690332 http://www.ncbi.nlm.nih.gov/pubmed/19690332 PubMed 21078962 http://www.ncbi.nlm.nih.gov/pubmed/21078962 PubMed 22704558 http://www.ncbi.nlm.nih.gov/pubmed/22704558 PubMed 22705370 http://www.ncbi.nlm.nih.gov/pubmed/22705370 PubMed 22759634 http://www.ncbi.nlm.nih.gov/pubmed/22759634 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 26884333 http://www.ncbi.nlm.nih.gov/pubmed/26884333 RefSeq NP_001273497 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001273497 RefSeq NP_115519 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_115519 RefSeq XP_005263866 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005263866 RefSeq XP_006712851 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006712851 RefSeq XP_011510260 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510260 RefSeq XP_011510262 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510262 RefSeq XP_011510265 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011510265 SMART SM00487 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00487 SMART SM00490 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00490 SMART SM00507 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00507 SMART SM00547 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00547 SMR Q5FWF4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q5FWF4 STRING 9606.ENSP00000264159 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264159&targetmode=cogs SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 SUPFAM SSF90209 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90209 UCSC uc002tul http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002tul&org=rat UniGene Hs.658422 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658422 UniProtKB ZRAB3_HUMAN http://www.uniprot.org/uniprot/ZRAB3_HUMAN UniProtKB-AC Q5FWF4 http://www.uniprot.org/uniprot/Q5FWF4 charge swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZRAB3_HUMAN eggNOG COG0553 http://eggnogapi.embl.de/nog_data/html/tree/COG0553 eggNOG KOG1000 http://eggnogapi.embl.de/nog_data/html/tree/KOG1000 epestfind swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZRAB3_HUMAN garnier swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZRAB3_HUMAN helixturnhelix swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZRAB3_HUMAN hmoment swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZRAB3_HUMAN iep swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZRAB3_HUMAN inforesidue swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZRAB3_HUMAN neXtProt NX_Q5FWF4 http://www.nextprot.org/db/entry/NX_Q5FWF4 octanol swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZRAB3_HUMAN pepcoil swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZRAB3_HUMAN pepdigest swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZRAB3_HUMAN pepinfo swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZRAB3_HUMAN pepnet swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZRAB3_HUMAN pepstats swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZRAB3_HUMAN pepwheel swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZRAB3_HUMAN pepwindow swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZRAB3_HUMAN sigcleave swissprot:ZRAB3_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZRAB3_HUMAN ## Database ID URL or Descriptions # AltName ITAE_HUMAN CD103 # AltName ITAE_HUMAN CD103 # AltName ITAE_HUMAN HML-1 antigen # AltName ITAE_HUMAN Integrin alpha-IEL # AltName ITAE_HUMAN Mucosal lymphocyte 1 antigen # BioGrid 109888 2 # ChiTaRS ITGAE human # DOMAIN ITAE_HUMAN The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage. # Ensembl ENST00000263087 ENSP00000263087; ENSG00000083457 # ExpressionAtlas P38570 baseline and differential # FUNCTION ITAE_HUMAN Integrin alpha-E/beta-7 is a receptor for E-cadherin. It mediates adhesion of intra-epithelial T-lymphocytes to epithelial cell monolayers. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0008305 integrin complex; TAS:ProtInc. # GO_component GO:0009897 external side of plasma membrane; IEA:Ensembl. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0007155 cell adhesion; IEA:UniProtKB-KW. # GO_process GO:0007229 integrin-mediated signaling pathway; IEA:UniProtKB-KW. # GO_process GO:0030198 extracellular matrix organization; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043234 protein complex # GOslim_function GO:0043167 ion binding # GOslim_process GO:0007155 cell adhesion # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0030198 extracellular matrix organization # Genevisible P38570 HS # HGNC HGNC:6147 ITGAE # INDUCTION Integrin alpha-E/beta-7 is induced by TGFB1. {ECO:0000269|PubMed 1542691}. # InterPro IPR000413 Integrin_alpha # InterPro IPR002035 VWF_A # 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 ko04810 Regulation of actin cytoskeleton # MIM 604682 gene # Organism ITAE_HUMAN Homo sapiens (Human) # PIR A53213 A53213 # PRINTS PR01185 INTEGRINA # PROSITE PS00242 INTEGRIN_ALPHA # PROSITE PS50234 VWFA # PROSITE PS51470 FG_GAP; 5 # Pfam PF00092 VWA # Pfam PF00357 Integrin_alpha # Pfam PF01839 FG-GAP; 2 # Pfam PF08441 Integrin_alpha2 # Proteomes UP000005640 Chromosome 17 # Reactome R-HSA-216083 Integrin cell surface interactions # RecName ITAE_HUMAN Integrin alpha-E # RecName ITAE_HUMAN Integrin alpha-E heavy chain # RecName ITAE_HUMAN Integrin alpha-E light chain # RecName ITAE_HUMAN Integrin alpha-E light chain # RefSeq NP_002199 NM_002208.4 # SIMILARITY Belongs to the integrin alpha chain family. {ECO 0000305}. # SIMILARITY Contains 1 VWFA domain. {ECO:0000255|PROSITE- ProRule PRU00219}. # SIMILARITY Contains 7 FG-GAP repeats. {ECO 0000305}. # SMART SM00191 Int_alpha; 4 # SMART SM00327 VWA # SUBCELLULAR LOCATION ITAE_HUMAN Membrane; Single-pass type I membrane protein. # SUBUNIT ITAE_HUMAN Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chains linked by a disulfide bond. Alpha-E associates with beta-7. # SUPFAM SSF53300 SSF53300 # SUPFAM SSF69179 SSF69179; 2 # TISSUE SPECIFICITY ITAE_HUMAN Expressed on a subclass of T-lymphocytes known as intra-epithelial lymphocytes which are located between mucosal epithelial cells. # UCSC uc002fwo human # eggNOG ENOG410IPAZ Eukaryota # eggNOG ENOG410XR7I LUCA BLAST swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ITAE_HUMAN BioCyc ZFISH:ENSG00000083457-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000083457-MONOMER COXPRESdb 3682 http://coxpresdb.jp/data/gene/3682.shtml CleanEx HS_ITGAE http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ITGAE DOI 10.1038/nature04689 http://dx.doi.org/10.1038/nature04689 DOI 10.1073/pnas.89.5.1924 http://dx.doi.org/10.1073/pnas.89.5.1924 DOI 10.1074/jbc.M001228200 http://dx.doi.org/10.1074/jbc.M001228200 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 AC116914 http://www.ebi.ac.uk/ena/data/view/AC116914 EMBL AF168787 http://www.ebi.ac.uk/ena/data/view/AF168787 EMBL BC113436 http://www.ebi.ac.uk/ena/data/view/BC113436 EMBL BC117207 http://www.ebi.ac.uk/ena/data/view/BC117207 EMBL L25851 http://www.ebi.ac.uk/ena/data/view/L25851 Ensembl ENST00000263087 http://www.ensembl.org/id/ENST00000263087 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 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_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 GO_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GO_process GO:0007229 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007229 GO_process GO:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-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:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 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:0030198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198 GeneCards ITGAE http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ITGAE GeneID 3682 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3682 GeneTree ENSGT00760000118782 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118782 H-InvDB HIX0202464 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0202464 HGNC HGNC:6147 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6147 HOGENOM HOG000049185 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000049185&db=HOGENOM6 HOVERGEN HBG006187 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG006187&db=HOVERGEN HPA CAB026461 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB026461 HPA HPA036313 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA036313 HPA HPA052147 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052147 InParanoid P38570 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P38570 IntAct P38570 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P38570* InterPro IPR000413 http://www.ebi.ac.uk/interpro/entry/IPR000413 InterPro IPR002035 http://www.ebi.ac.uk/interpro/entry/IPR002035 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 3682 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3682 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:3682 http://www.genome.jp/dbget-bin/www_bget?hsa:3682 KEGG_Orthology KO:K06524 http://www.genome.jp/dbget-bin/www_bget?KO:K06524 KEGG_Pathway ko04810 http://www.genome.jp/kegg-bin/show_pathway?ko04810 MIM 604682 http://www.ncbi.nlm.nih.gov/omim/604682 MINT MINT-1397425 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1397425 OMA AIFQLPY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AIFQLPY OrthoDB EOG091G09V5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G09V5 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 PS50234 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50234 PROSITE PS51470 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51470 PSORT swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ITAE_HUMAN PSORT-B swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ITAE_HUMAN PSORT2 swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ITAE_HUMAN Pfam PF00092 http://pfam.xfam.org/family/PF00092 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 PA29947 http://www.pharmgkb.org/do/serve?objId=PA29947&objCls=Gene Phobius swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ITAE_HUMAN PhylomeDB P38570 http://phylomedb.org/?seqid=P38570 ProteinModelPortal P38570 http://www.proteinmodelportal.org/query/uniprot/P38570 PubMed 10673275 http://www.ncbi.nlm.nih.gov/pubmed/10673275 PubMed 10837471 http://www.ncbi.nlm.nih.gov/pubmed/10837471 PubMed 1542691 http://www.ncbi.nlm.nih.gov/pubmed/1542691 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16625196 http://www.ncbi.nlm.nih.gov/pubmed/16625196 PubMed 8119947 http://www.ncbi.nlm.nih.gov/pubmed/8119947 Reactome R-HSA-216083 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-216083 RefSeq NP_002199 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002199 SMART SM00191 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00191 SMART SM00327 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00327 SMR P38570 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P38570 STRING 9606.ENSP00000263087 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263087&targetmode=cogs SUPFAM SSF53300 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53300 SUPFAM SSF69179 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF69179 UCSC uc002fwo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fwo&org=rat UniGene Hs.513867 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.513867 UniProtKB ITAE_HUMAN http://www.uniprot.org/uniprot/ITAE_HUMAN UniProtKB-AC P38570 http://www.uniprot.org/uniprot/P38570 charge swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ITAE_HUMAN eggNOG ENOG410IPAZ http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IPAZ eggNOG ENOG410XR7I http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XR7I epestfind swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ITAE_HUMAN garnier swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ITAE_HUMAN helixturnhelix swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ITAE_HUMAN hmoment swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ITAE_HUMAN iep swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ITAE_HUMAN inforesidue swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ITAE_HUMAN neXtProt NX_P38570 http://www.nextprot.org/db/entry/NX_P38570 octanol swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ITAE_HUMAN pepcoil swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ITAE_HUMAN pepdigest swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ITAE_HUMAN pepinfo swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ITAE_HUMAN pepnet swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ITAE_HUMAN pepstats swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ITAE_HUMAN pepwheel swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ITAE_HUMAN pepwindow swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ITAE_HUMAN sigcleave swissprot:ITAE_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ITAE_HUMAN ## Database ID URL or Descriptions # AltName MSLNL_HUMAN Pre-pro-megakaryocyte-potentiating-factor-like # Ensembl ENST00000442466 ENSP00000415767; ENSG00000162006 # ExpressionAtlas Q96KJ4 baseline and differential # FUNCTION MSLNL_HUMAN May play a role in cellular adhesion. {ECO 0000250}. # GO_component GO:0009986 cell surface; IBA:GO_Central. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_process GO:0007160 cell-matrix adhesion; IBA:GO_Central. # GOslim_component GO:0005575 cellular_component # GOslim_process GO:0007155 cell adhesion # HGNC HGNC:14170 MSLNL # InterPro IPR010335 Mesothelin # InterPro IPR026664 Stereocilin-rel # InterPro IPR026672 Mesothelin-like_protein # Organism MSLNL_HUMAN Homo sapiens (Human) # PANTHER PTHR23412 PTHR23412; 2 # PANTHER PTHR23412:SF15 PTHR23412:SF15; 2 # Pfam PF06060 Mesothelin # Proteomes UP000005640 Chromosome 16 # RecName MSLNL_HUMAN Mesothelin-like protein # SEQUENCE CAUTION Sequence=AAK61254.1; Type=Erroneous gene model prediction; Note=The sequence shown is based on gene prediction by similarity with the mouse ortholog.; Evidence={ECO:0000305}; Sequence=EAW85717.1; Type=Erroneous gene model prediction; Note=The sequence shown is based on gene prediction by similarity with the mouse ortholog.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the mesothelin family. {ECO 0000305}. # SUBCELLULAR LOCATION MSLNL_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # UCSC uc059osa human BLAST swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MSLNL_HUMAN BioCyc ZFISH:ENSG00000162006-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000162006-MONOMER CleanEx HS_MSLNL http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MSLNL DOI 10.1038/nature03187 http://dx.doi.org/10.1038/nature03187 DOI 10.1093/hmg/10.4.339 http://dx.doi.org/10.1093/hmg/10.4.339 EMBL AE006464 http://www.ebi.ac.uk/ena/data/view/AE006464 EMBL AL031258 http://www.ebi.ac.uk/ena/data/view/AL031258 EMBL CH471112 http://www.ebi.ac.uk/ena/data/view/CH471112 Ensembl ENST00000442466 http://www.ensembl.org/id/ENST00000442466 G-Links 9606 http://link.g-language.org/9606/format=tsv 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_process GO:0007160 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007160 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_process GO:0007155 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155 GeneCards MSLNL http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MSLNL GeneTree ENSGT00530000064019 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000064019 HGNC HGNC:14170 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:14170 HOGENOM HOG000113665 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000113665&db=HOGENOM6 HOVERGEN HBG108150 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108150&db=HOVERGEN HPA CAB037030 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037030 InParanoid Q96KJ4 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96KJ4 InterPro IPR010335 http://www.ebi.ac.uk/interpro/entry/IPR010335 InterPro IPR026664 http://www.ebi.ac.uk/interpro/entry/IPR026664 InterPro IPR026672 http://www.ebi.ac.uk/interpro/entry/IPR026672 PANTHER PTHR23412 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23412 PANTHER PTHR23412:SF15 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23412:SF15 PSORT swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MSLNL_HUMAN PSORT-B swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MSLNL_HUMAN PSORT2 swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MSLNL_HUMAN Pfam PF06060 http://pfam.xfam.org/family/PF06060 PharmGKB PA162396252 http://www.pharmgkb.org/do/serve?objId=PA162396252&objCls=Gene Phobius swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MSLNL_HUMAN PhylomeDB Q96KJ4 http://phylomedb.org/?seqid=Q96KJ4 ProteinModelPortal Q96KJ4 http://www.proteinmodelportal.org/query/uniprot/Q96KJ4 PubMed 11157797 http://www.ncbi.nlm.nih.gov/pubmed/11157797 PubMed 15616553 http://www.ncbi.nlm.nih.gov/pubmed/15616553 SMR Q96KJ4 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96KJ4 UCSC uc059osa http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc059osa&org=rat UniProtKB MSLNL_HUMAN http://www.uniprot.org/uniprot/MSLNL_HUMAN UniProtKB-AC Q96KJ4 http://www.uniprot.org/uniprot/Q96KJ4 charge swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MSLNL_HUMAN epestfind swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MSLNL_HUMAN garnier swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MSLNL_HUMAN helixturnhelix swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MSLNL_HUMAN hmoment swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MSLNL_HUMAN iep swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MSLNL_HUMAN inforesidue swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MSLNL_HUMAN neXtProt NX_Q96KJ4 http://www.nextprot.org/db/entry/NX_Q96KJ4 octanol swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MSLNL_HUMAN pepcoil swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MSLNL_HUMAN pepdigest swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MSLNL_HUMAN pepinfo swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MSLNL_HUMAN pepnet swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MSLNL_HUMAN pepstats swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MSLNL_HUMAN pepwheel swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MSLNL_HUMAN pepwindow swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MSLNL_HUMAN sigcleave swissprot:MSLNL_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MSLNL_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 # ALTERNATIVE PRODUCTS RBMX_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P38159-1; Sequence=Displayed; Name=2; IsoId=P38159-2; Sequence=VSP_042203; Name=3; IsoId=P38159-3; Sequence=VSP_043650, VSP_043651; Note=No experimental confirmation available.; # AltName RBMX_HUMAN Glycoprotein p43 # AltName RBMX_HUMAN Heterogeneous nuclear ribonucleoprotein G # BioGrid 118134 154 # CCDS CCDS14661 -. [P38159-1] # CCDS CCDS55510 -. [P38159-3] # ChiTaRS RBMX human # DISEASE RBMX_HUMAN Mental retardation, X-linked, syndromic, 11 (MRXS11) [MIM 300238] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS11 patients manifest moderate intellectual disability and craniofacial dysmorphism. {ECO 0000269|PubMed 25256757}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DOMAIN RBMX_HUMAN The RRM domain is necessary for RNA-binding, but not for splice site selection, indicating that its splicing activity does not require direct binding to RNA. {ECO 0000250}. # Ensembl ENST00000320676 ENSP00000359645; ENSG00000147274. [P38159-1] # Ensembl ENST00000431446 ENSP00000411989; ENSG00000147274. [P38159-3] # ExpressionAtlas P38159 baseline and differential # FUNCTION RBMX_HUMAN RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the supraspliceosome complex that regulates pre-mRNA alternative splice site selection. Can either activate or suppress exon inclusion; acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN2. Represses the splicing of MAPT/Tau exon 10. Binds preferentially to single- stranded 5'-CC[A/C]-rich RNA sequence motifs localized in a single-stranded conformation; probably binds RNA as a homodimer. Binds non-specifically to pre-mRNAs. Plays also a role in the cytoplasmic TNFR1 trafficking pathways; promotes both the IL-1- beta-mediated inducible proteolytic cleavage of TNFR1 ectodomains and the release of TNFR1 exosome-like vesicles to the extracellular compartment. {ECO 0000269|PubMed 12165565, ECO 0000269|PubMed 12761049, ECO 0000269|PubMed 16707624, ECO 0000269|PubMed 18445477, ECO 0000269|PubMed 18541147, ECO 0000269|PubMed 19282290, ECO 0000269|PubMed 21327109}. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005654 nucleoplasm; TAS:Reactome. # GO_component GO:0005719 nuclear euchromatin; IDA:UniProtKB. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0030529 intracellular ribonucleoprotein complex; NAS:UniProtKB. # GO_component GO:0044530 supraspliceosomal complex; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_component GO:0071013 catalytic step 2 spliceosome; IDA:UniProtKB. # GO_function GO:0000166 nucleotide binding; IEA:InterPro. # GO_function GO:0001047 core promoter binding; IDA:UniProtKB. # GO_function GO:0003682 chromatin binding; IDA:UniProtKB. # GO_function GO:0003723 RNA binding; IDA:UniProtKB. # GO_function GO:0003727 single-stranded RNA binding; IEA:Ensembl. # GO_function GO:0003729 mRNA binding; IDA:UniProtKB. # GO_function GO:0042802 identical protein binding; IPI:IntAct. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_process GO:0000381 regulation of alternative mRNA splicing, via spliceosome; IDA:UniProtKB. # GO_process GO:0000398 mRNA splicing, via spliceosome; IC:UniProtKB. # GO_process GO:0001649 osteoblast differentiation; IDA:UniProtKB. # GO_process GO:0006366 transcription from RNA polymerase II promoter; IDA:UniProtKB. # GO_process GO:0006376 mRNA splice site selection; IEA:Ensembl. # GO_process GO:0006509 membrane protein ectodomain proteolysis; IDA:UniProtKB. # GO_process GO:0010467 gene expression; TAS:Reactome. # GO_process GO:0045944 positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB. # GO_process GO:0048025 negative regulation of mRNA splicing, via spliceosome; ISS:UniProtKB. # GO_process GO:0048026 positive regulation of mRNA splicing, via spliceosome; ISS:UniProtKB. # GO_process GO:0051260 protein homooligomerization; ISS:UniProtKB. # GO_process GO:0071347 cellular response to interleukin-1; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0003677 DNA binding # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0003729 mRNA binding # GOslim_process GO:0006397 mRNA processing # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0022618 ribonucleoprotein complex assembly # GOslim_process GO:0030154 cell differentiation # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Gene3D 3.30.70.330 -; 1. # Genevisible P38159 HS # HGNC HGNC:9910 RBMX # INTERACTION RBMX_HUMAN Self; NbExp=5; IntAct=EBI-743526, EBI-743526; Q9NRW3 APOBEC3C; NbExp=5; IntAct=EBI-743526, EBI-1044593; Q14011 CIRBP; NbExp=4; IntAct=EBI-743526, EBI-538850; P49761 CLK3; NbExp=3; IntAct=EBI-743526, EBI-745579; P61978 HNRNPK; NbExp=6; IntAct=EBI-743526, EBI-304185; P61978-2 HNRNPK; NbExp=4; IntAct=EBI-743526, EBI-7060731; Q6IBN1 HNRPK; NbExp=5; IntAct=EBI-743526, EBI-3440248; Q5VWX1 KHDRBS2; NbExp=11; IntAct=EBI-743526, EBI-742808; O75525 KHDRBS3; NbExp=3; IntAct=EBI-743526, EBI-722504; Q8TBB1 LNX1; NbExp=3; IntAct=EBI-743526, EBI-739832; Q96A72 MAGOHB; NbExp=3; IntAct=EBI-743526, EBI-746778; Q96AH0 NABP1; NbExp=3; IntAct=EBI-743526, EBI-2889252; P79522 PRR3; NbExp=5; IntAct=EBI-743526, EBI-2803328; P98179 RBM3; NbExp=5; IntAct=EBI-743526, EBI-2949699; P0DJD3 RBMY1A1; NbExp=3; IntAct=EBI-743526, EBI-8638511; P0DJD3-2 RBMY1A1; NbExp=4; IntAct=EBI-743526, EBI-11994018; Q15415 RBMY1J; NbExp=7; IntAct=EBI-743526, EBI-8642021; Q96HH0 ROBO3; NbExp=3; IntAct=EBI-743526, EBI-10288358; P09012 SNRPA; NbExp=3; IntAct=EBI-743526, EBI-607085; Q9JKL7 Srek1 (xeno); NbExp=3; IntAct=EBI-743526, EBI-6452221; # IntAct P38159 84 # InterPro IPR000504 RRM_dom # InterPro IPR003954 RRM_dom_euk # InterPro IPR012604 RBM1CTR # InterPro IPR012677 Nucleotide-bd_a/b_plait # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko03041 Spliceosome # KEGG_Pathway ko03040 Spliceosome # MIM 300199 gene # MIM 300238 phenotype # Organism RBMX_HUMAN Homo sapiens (Human) # PDB 2MB0 NMR; -; B=1-95 # PDB 2MKS NMR; -; A=1-90 # PROSITE PS50102 RRM # PTM RBMX_HUMAN Arg-185 is dimethylated, probably to asymmetric dimethylarginine. # PTM RBMX_HUMAN Cleavage of initiator Met is partial. If Met-1 is not removed, it is acetylated. If it is removed, Val-2 is acetylated. {ECO 0000269|Ref.9}. # PTM RBMX_HUMAN O-glycosylated. {ECO 0000269|PubMed 7692398}. # Pfam PF00076 RRM_1 # Pfam PF08081 RBM1CTR # Proteomes UP000005640 Chromosome X # Reactome R-HSA-72163 mRNA Splicing - Major Pathway # Reactome R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA # RecName RBMX_HUMAN RNA-binding motif protein, X chromosome # RecName RBMX_HUMAN RNA-binding motif protein, X chromosome, N-terminally processed # RefSeq NP_001158275 NM_001164803.1. [P38159-3] # RefSeq NP_002130 NM_002139.3. [P38159-1] # SIMILARITY Contains 1 RRM (RNA recognition motif) domain. {ECO:0000255|PROSITE-ProRule PRU00176}. # SMART SM00360 RRM # SMART SM00361 RRM_1 # SUBCELLULAR LOCATION RBMX_HUMAN Nucleus {ECO 0000269|PubMed 19282290, ECO 0000269|PubMed 21327109}. Note=Component of ribonucleosomes. Localizes in numerous small granules in the nucleus. # SUBUNIT RBMX_HUMAN Homomultimer. Interacts with SAFB/SAFB1 (By similarity). Found in the supraspliceosome complex. Identified in the spliceosome C complex. Interacts with KHDRBS3. Forms a complex with ILF2, ILF3, YLPM1, KHDRBS1, NCOA5 and PPP1CA. Interacts with CLK2, KHDRBS2, SAFB, TRA2B and YTHDC1. Interacts with ERAP1; the interaction is RNA-independent. {ECO 0000250, ECO 0000269|PubMed 10332027, ECO 0000269|PubMed 11991638, ECO 0000269|PubMed 12165565, ECO 0000269|PubMed 17890166, ECO 0000269|PubMed 18445477, ECO 0000269|PubMed 19282290}. # SUPFAM SSF54928 SSF54928 # TISSUE SPECIFICITY Expressed strongly in oral keratinocytes, but only weakly detected in oral squamous cell carcinomas (at protein level). {ECO:0000269|PubMed 16707624}. # TopDownProteomics P38159-1 -. [P38159-1] # UCSC uc004fae human. [P38159-1] # eggNOG ENOG410IHG3 Eukaryota # eggNOG ENOG4111GI6 LUCA BLAST swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RBMX_HUMAN BioCyc ZFISH:ENSG00000147274-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000147274-MONOMER COXPRESdb 27316 http://coxpresdb.jp/data/gene/27316.shtml CleanEx HS_RBMX http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RBMX DIP DIP-34447N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-34447N DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s00335001-0003-z http://dx.doi.org/10.1007/s00335001-0003-z DOI 10.1016/j.bbapap.2007.07.015 http://dx.doi.org/10.1016/j.bbapap.2007.07.015 DOI 10.1016/j.bbrc.2008.04.103 http://dx.doi.org/10.1016/j.bbrc.2008.04.103 DOI 10.1016/j.bbrc.2008.05.175 http://dx.doi.org/10.1016/j.bbrc.2008.05.175 DOI 10.1016/j.cell.2006.09.026 http://dx.doi.org/10.1016/j.cell.2006.09.026 DOI 10.1016/j.celrep.2015.02.033 http://dx.doi.org/10.1016/j.celrep.2015.02.033 DOI 10.1017/S1355838202021088 http://dx.doi.org/10.1017/S1355838202021088 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/nsmb.2890 http://dx.doi.org/10.1038/nsmb.2890 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M901026200 http://dx.doi.org/10.1074/jbc.M901026200 DOI 10.1074/mcp.O114.044792 http://dx.doi.org/10.1074/mcp.O114.044792 DOI 10.1093/hmg/11.17.2037 http://dx.doi.org/10.1093/hmg/11.17.2037 DOI 10.1093/hmg/8.6.959 http://dx.doi.org/10.1093/hmg/8.6.959 DOI 10.1093/hmg/ddg136 http://dx.doi.org/10.1093/hmg/ddg136 DOI 10.1093/nar/21.18.4210 http://dx.doi.org/10.1093/nar/21.18.4210 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1111/cge.12511 http://dx.doi.org/10.1111/cge.12511 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 10.1158/1078-0432.CCR-05-2656 http://dx.doi.org/10.1158/1078-0432.CCR-05-2656 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 DOI 10.4161/nucl.1.1.10857 http://dx.doi.org/10.4161/nucl.1.1.10857 EMBL AF266720 http://www.ebi.ac.uk/ena/data/view/AF266720 EMBL AF266721 http://www.ebi.ac.uk/ena/data/view/AF266721 EMBL AF266722 http://www.ebi.ac.uk/ena/data/view/AF266722 EMBL AF266723 http://www.ebi.ac.uk/ena/data/view/AF266723 EMBL AK096015 http://www.ebi.ac.uk/ena/data/view/AK096015 EMBL AK304868 http://www.ebi.ac.uk/ena/data/view/AK304868 EMBL AL683813 http://www.ebi.ac.uk/ena/data/view/AL683813 EMBL AY464692 http://www.ebi.ac.uk/ena/data/view/AY464692 EMBL BC006550 http://www.ebi.ac.uk/ena/data/view/BC006550 EMBL BC007435 http://www.ebi.ac.uk/ena/data/view/BC007435 EMBL CH471150 http://www.ebi.ac.uk/ena/data/view/CH471150 EMBL CH471150 http://www.ebi.ac.uk/ena/data/view/CH471150 EMBL CH471150 http://www.ebi.ac.uk/ena/data/view/CH471150 EMBL CH471150 http://www.ebi.ac.uk/ena/data/view/CH471150 EMBL Z23064 http://www.ebi.ac.uk/ena/data/view/Z23064 Ensembl ENST00000320676 http://www.ensembl.org/id/ENST00000320676 Ensembl ENST00000431446 http://www.ensembl.org/id/ENST00000431446 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:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 GO_component GO:0005719 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005719 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:0044530 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044530 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_component GO:0071013 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071013 GO_function GO:0000166 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000166 GO_function GO:0001047 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001047 GO_function GO:0003682 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003682 GO_function GO:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 GO_function GO:0003727 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003727 GO_function GO:0003729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003729 GO_function GO:0042802 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802 GO_function GO:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 GO_process GO:0000381 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000381 GO_process GO:0000398 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000398 GO_process GO:0001649 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001649 GO_process GO:0006366 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006366 GO_process GO:0006376 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006376 GO_process GO:0006509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006509 GO_process GO:0010467 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010467 GO_process GO:0045944 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944 GO_process GO:0048025 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048025 GO_process GO:0048026 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048026 GO_process GO:0051260 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051260 GO_process GO:0071347 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071347 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:0005654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654 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: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:0003729 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003729 GOslim_process GO:0006397 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006397 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:0022618 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022618 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 Gene3D 3.30.70.330 http://www.cathdb.info/version/latest/superfamily/3.30.70.330 GeneCards RBMX http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RBMX GeneID 27316 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=27316 GeneTree ENSGT00710000106295 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00710000106295 HGNC HGNC:9910 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9910 HOGENOM HOG000276235 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000276235&db=HOGENOM6 HOVERGEN HBG063314 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG063314&db=HOVERGEN HPA HPA057707 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA057707 InParanoid P38159 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P38159 IntAct P38159 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P38159* InterPro IPR000504 http://www.ebi.ac.uk/interpro/entry/IPR000504 InterPro IPR003954 http://www.ebi.ac.uk/interpro/entry/IPR003954 InterPro IPR012604 http://www.ebi.ac.uk/interpro/entry/IPR012604 InterPro IPR012677 http://www.ebi.ac.uk/interpro/entry/IPR012677 Jabion 27316 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=27316 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:27316 http://www.genome.jp/dbget-bin/www_bget?hsa:27316 KEGG_Orthology KO:K12885 http://www.genome.jp/dbget-bin/www_bget?KO:K12885 KEGG_Pathway ko03040 http://www.genome.jp/kegg-bin/show_pathway?ko03040 MIM 300199 http://www.ncbi.nlm.nih.gov/omim/300199 MIM 300238 http://www.ncbi.nlm.nih.gov/omim/300238 MINT MINT-5000999 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-5000999 OMA RDYSYRE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RDYSYRE OrthoDB EOG091G13K0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G13K0 PDB 2MB0 http://www.ebi.ac.uk/pdbe-srv/view/entry/2MB0 PDB 2MKS http://www.ebi.ac.uk/pdbe-srv/view/entry/2MKS PDBsum 2MB0 http://www.ebi.ac.uk/pdbsum/2MB0 PDBsum 2MKS http://www.ebi.ac.uk/pdbsum/2MKS PROSITE PS50102 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50102 PSORT swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RBMX_HUMAN PSORT-B swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RBMX_HUMAN PSORT2 swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RBMX_HUMAN Pfam PF00076 http://pfam.xfam.org/family/PF00076 Pfam PF08081 http://pfam.xfam.org/family/PF08081 PharmGKB PA34277 http://www.pharmgkb.org/do/serve?objId=PA34277&objCls=Gene Phobius swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RBMX_HUMAN PhylomeDB P38159 http://phylomedb.org/?seqid=P38159 ProteinModelPortal P38159 http://www.proteinmodelportal.org/query/uniprot/P38159 PubMed 10332027 http://www.ncbi.nlm.nih.gov/pubmed/10332027 PubMed 11420617 http://www.ncbi.nlm.nih.gov/pubmed/11420617 PubMed 11991638 http://www.ncbi.nlm.nih.gov/pubmed/11991638 PubMed 12165565 http://www.ncbi.nlm.nih.gov/pubmed/12165565 PubMed 12761049 http://www.ncbi.nlm.nih.gov/pubmed/12761049 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 16707624 http://www.ncbi.nlm.nih.gov/pubmed/16707624 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17890166 http://www.ncbi.nlm.nih.gov/pubmed/17890166 PubMed 18445477 http://www.ncbi.nlm.nih.gov/pubmed/18445477 PubMed 18541147 http://www.ncbi.nlm.nih.gov/pubmed/18541147 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19282290 http://www.ncbi.nlm.nih.gov/pubmed/19282290 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 21327109 http://www.ncbi.nlm.nih.gov/pubmed/21327109 PubMed 21406692 http://www.ncbi.nlm.nih.gov/pubmed/21406692 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 25218447 http://www.ncbi.nlm.nih.gov/pubmed/25218447 PubMed 25256757 http://www.ncbi.nlm.nih.gov/pubmed/25256757 PubMed 25755297 http://www.ncbi.nlm.nih.gov/pubmed/25755297 PubMed 25772364 http://www.ncbi.nlm.nih.gov/pubmed/25772364 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 7692398 http://www.ncbi.nlm.nih.gov/pubmed/7692398 Reactome R-HSA-72163 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-72163 Reactome R-HSA-72203 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-72203 RefSeq NP_001158275 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001158275 RefSeq NP_002130 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002130 SMART SM00360 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00360 SMART SM00361 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00361 SMR P38159 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P38159 STRING 9606.ENSP00000359645 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000359645&targetmode=cogs SUPFAM SSF54928 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54928 SWISS-2DPAGE P38159 http://world-2dpage.expasy.org/swiss-2dpage/protein/ac=P38159 UCSC uc004fae http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004fae&org=rat UniGene Hs.380118 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.380118 UniGene Hs.710162 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.710162 UniProtKB RBMX_HUMAN http://www.uniprot.org/uniprot/RBMX_HUMAN UniProtKB-AC P38159 http://www.uniprot.org/uniprot/P38159 charge swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RBMX_HUMAN eggNOG ENOG410IHG3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IHG3 eggNOG ENOG4111GI6 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111GI6 epestfind swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RBMX_HUMAN garnier swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RBMX_HUMAN helixturnhelix swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RBMX_HUMAN hmoment swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RBMX_HUMAN iep swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RBMX_HUMAN inforesidue swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RBMX_HUMAN neXtProt NX_P38159 http://www.nextprot.org/db/entry/NX_P38159 octanol swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RBMX_HUMAN pepcoil swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RBMX_HUMAN pepdigest swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RBMX_HUMAN pepinfo swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RBMX_HUMAN pepnet swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RBMX_HUMAN pepstats swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RBMX_HUMAN pepwheel swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RBMX_HUMAN pepwindow swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RBMX_HUMAN sigcleave swissprot:RBMX_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RBMX_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96AE7-1; Sequence=Displayed; Name=2; IsoId=Q96AE7-2; Sequence=VSP_056857, VSP_056858, VSP_056859; Note=No experimental confirmation available. Ref.3 (AAH33000) sequence is in conflict in position: 787 E->G.; # BioGrid 120879 27 # CCDS CCDS31466 -. [Q96AE7-1] # CCDS CCDS76396 -. [Q96AE7-2] # ChiTaRS TTC17 human # Ensembl ENST00000039989 ENSP00000039989; ENSG00000052841. [Q96AE7-1] # Ensembl ENST00000299240 ENSP00000299240; ENSG00000052841. [Q96AE7-2] # ExpressionAtlas Q96AE7 baseline and differential # FUNCTION TTC17_HUMAN Plays a role in primary ciliogenesis by modulating actin polymerization. {ECO 0000269|PubMed 24475127}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0015629 actin cytoskeleton; IDA:UniProtKB. # GO_process GO:0030041 actin filament polymerization; IMP:UniProtKB. # GO_process GO:0044782 cilium organization; IMP:UniProtKB. # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005856 cytoskeleton # GOslim_component GO:0005886 plasma membrane # GOslim_process GO:0006461 protein complex assembly # GOslim_process GO:0008150 biological_process # Gene3D 1.25.40.10 -; 3. # Genevisible Q96AE7 HS # HGNC HGNC:25596 TTC17 # IntAct Q96AE7 3 # InterPro IPR011990 TPR-like_helical_dom # InterPro IPR013026 TPR-contain_dom # InterPro IPR019734 TPR_repeat # Organism TTC17_HUMAN Homo sapiens (Human) # PROSITE PS50005 TPR; 4 # PROSITE PS50293 TPR_REGION; 3 # Pfam PF13181 TPR_8; 2 # Proteomes UP000005640 Chromosome 11 # RecName TTC17_HUMAN Tetratricopeptide repeat protein 17 # RefSeq NP_001294872 NM_001307943.1. [Q96AE7-2] # RefSeq NP_060729 NM_018259.5. [Q96AE7-1] # SIMILARITY Belongs to the TTC17 family. {ECO 0000305}. # SIMILARITY Contains 6 TPR repeats. {ECO:0000255|PROSITE- ProRule PRU00339}. # SMART SM00028 TPR; 7 # SUBCELLULAR LOCATION TTC17_HUMAN Cytoplasm {ECO 0000269|PubMed 24475127}. Cell membrane {ECO 0000269|PubMed 24475127}. Cytoplasm, cytoskeleton {ECO 0000269|PubMed 24475127}. Note=Colocalized with CATIP at F-actin rich zones and at dynamic plasma membrane protrusions. # SUBUNIT Interacts with CATIP. {ECO:0000269|PubMed 24475127}. # SUPFAM SSF48452 SSF48452; 3 # TISSUE SPECIFICITY Expressed in germ cells as well as in somatic cells of the testis (at protein level). {ECO:0000269|PubMed 24475127}. # UCSC uc001mxh human. [Q96AE7-1] # eggNOG ENOG410XSDX LUCA # eggNOG KOG4507 Eukaryota BLAST swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TTC17_HUMAN BioCyc ZFISH:ENSG00000052841-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000052841-MONOMER COXPRESdb 55761 http://coxpresdb.jp/data/gene/55761.shtml CleanEx HS_TTC17 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TTC17 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 10.1371/journal.pone.0086476 http://dx.doi.org/10.1371/journal.pone.0086476 EMBL AC023085 http://www.ebi.ac.uk/ena/data/view/AC023085 EMBL AC087276 http://www.ebi.ac.uk/ena/data/view/AC087276 EMBL BC017238 http://www.ebi.ac.uk/ena/data/view/BC017238 EMBL BC033000 http://www.ebi.ac.uk/ena/data/view/BC033000 EMBL CH471064 http://www.ebi.ac.uk/ena/data/view/CH471064 Ensembl ENST00000039989 http://www.ensembl.org/id/ENST00000039989 Ensembl ENST00000299240 http://www.ensembl.org/id/ENST00000299240 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:0015629 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015629 GO_process GO:0030041 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030041 GO_process GO:0044782 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044782 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_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 1.25.40.10 http://www.cathdb.info/version/latest/superfamily/1.25.40.10 GeneCards TTC17 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TTC17 GeneID 55761 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55761 GeneTree ENSGT00390000006196 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006196 HGNC HGNC:25596 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:25596 HOGENOM HOG000231397 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231397&db=HOGENOM6 HOVERGEN HBG061973 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061973&db=HOVERGEN HPA HPA038508 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038508 InParanoid Q96AE7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96AE7 IntAct Q96AE7 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96AE7* 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 55761 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55761 KEGG_Gene hsa:55761 http://www.genome.jp/dbget-bin/www_bget?hsa:55761 OMA ILMRQET http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ILMRQET OrthoDB EOG091G04D0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G04D0 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:TTC17_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TTC17_HUMAN PSORT-B swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TTC17_HUMAN PSORT2 swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TTC17_HUMAN Pfam PF13181 http://pfam.xfam.org/family/PF13181 PharmGKB PA134912435 http://www.pharmgkb.org/do/serve?objId=PA134912435&objCls=Gene Phobius swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TTC17_HUMAN PhylomeDB Q96AE7 http://phylomedb.org/?seqid=Q96AE7 ProteinModelPortal Q96AE7 http://www.proteinmodelportal.org/query/uniprot/Q96AE7 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 16554811 http://www.ncbi.nlm.nih.gov/pubmed/16554811 PubMed 24475127 http://www.ncbi.nlm.nih.gov/pubmed/24475127 RefSeq NP_001294872 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001294872 RefSeq NP_060729 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060729 SMART SM00028 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00028 STRING 9606.ENSP00000039989 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000039989&targetmode=cogs SUPFAM SSF48452 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48452 UCSC uc001mxh http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001mxh&org=rat UniGene Hs.191186 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.191186 UniProtKB TTC17_HUMAN http://www.uniprot.org/uniprot/TTC17_HUMAN UniProtKB-AC Q96AE7 http://www.uniprot.org/uniprot/Q96AE7 charge swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TTC17_HUMAN eggNOG ENOG410XSDX http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XSDX eggNOG KOG4507 http://eggnogapi.embl.de/nog_data/html/tree/KOG4507 epestfind swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TTC17_HUMAN garnier swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TTC17_HUMAN helixturnhelix swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TTC17_HUMAN hmoment swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TTC17_HUMAN iep swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TTC17_HUMAN inforesidue swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TTC17_HUMAN neXtProt NX_Q96AE7 http://www.nextprot.org/db/entry/NX_Q96AE7 octanol swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TTC17_HUMAN pepcoil swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TTC17_HUMAN pepdigest swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TTC17_HUMAN pepinfo swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TTC17_HUMAN pepnet swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TTC17_HUMAN pepstats swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TTC17_HUMAN pepwheel swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TTC17_HUMAN pepwindow swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TTC17_HUMAN sigcleave swissprot:TTC17_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TTC17_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS ZN285_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96NJ3-1; Sequence=Displayed; Name=2; IsoId=Q96NJ3-2; Sequence=VSP_037502; # AltName ZN285_HUMAN Zinc finger protein 285A # CCDS CCDS12638 -. [Q96NJ3-1] # CDD cd07765 KRAB_A-box # Ensembl ENST00000544719 ENSP00000439431; ENSG00000267508 # Ensembl ENST00000614994 ENSP00000483662; ENSG00000267508 # ExpressionAtlas Q96NJ3 baseline and differential # FUNCTION ZN285_HUMAN May be involved in transcriptional regulation. # GO_component GO:0005634 nucleus; IEA:UniProtKB-SubCell. # GO_function GO:0003677 DNA binding; IEA:UniProtKB-KW. # GO_function GO:0046872 metal ion binding; IEA:UniProtKB-KW. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0006355 regulation of transcription, DNA-templated; IEA:UniProtKB-KW. # GOslim_component GO:0005634 nucleus # GOslim_function GO:0003677 DNA binding # GOslim_function GO:0043167 ion binding # GOslim_process GO:0008150 biological_process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # Gene3D 3.30.160.60 -; 12. # Genevisible Q96NJ3 HS # HGNC HGNC:13079 ZNF285 # InterPro IPR001909 KRAB # InterPro IPR007087 Znf_C2H2 # InterPro IPR013087 Znf_C2H2/integrase_DNA-bd # InterPro IPR015880 Znf_C2H2-like # KEGG_Brite ko03000 Transcription factors # Organism ZN285_HUMAN Homo sapiens (Human) # PROSITE PS00028 ZINC_FINGER_C2H2_1; 10 # PROSITE PS50157 ZINC_FINGER_C2H2_2; 11 # PROSITE PS50805 KRAB # Pfam PF00096 zf-C2H2; 3 # Pfam PF01352 KRAB # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-212436 Generic Transcription Pathway # RecName ZN285_HUMAN Zinc finger protein 285 # RefSeq NP_001278417 NM_001291488.1 # RefSeq NP_001278418 NM_001291489.1 # RefSeq NP_001278419 NM_001291490.1 # RefSeq NP_001278420 NM_001291491.1 # RefSeq NP_689567 NM_152354.5 # SIMILARITY Belongs to the krueppel C2H2-type zinc-finger protein family. {ECO 0000305}. # SIMILARITY Contains 1 KRAB domain. {ECO:0000255|PROSITE- ProRule PRU00119}. # SIMILARITY Contains 11 C2H2-type zinc fingers. {ECO:0000255|PROSITE-ProRule PRU00042}. # SMART SM00349 KRAB # SMART SM00355 ZnF_C2H2; 11 # SUBCELLULAR LOCATION ZN285_HUMAN Nucleus {ECO 0000305}. # SUPFAM SSF109640 SSF109640 # UCSC uc002ozd human. [Q96NJ3-1] # eggNOG COG5048 LUCA # eggNOG KOG1721 Eukaryota BLAST swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:ZN285_HUMAN BioCyc ZFISH:G66-32491-MONOMER http://biocyc.org/getid?id=ZFISH:G66-32491-MONOMER COXPRESdb 26974 http://coxpresdb.jp/data/gene/26974.shtml CleanEx HS_ZNF285A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ZNF285A 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 AC138473 http://www.ebi.ac.uk/ena/data/view/AC138473 EMBL AK055309 http://www.ebi.ac.uk/ena/data/view/AK055309 EMBL BC069384 http://www.ebi.ac.uk/ena/data/view/BC069384 EMBL BC074875 http://www.ebi.ac.uk/ena/data/view/BC074875 EMBL BC117300 http://www.ebi.ac.uk/ena/data/view/BC117300 EMBL BC117302 http://www.ebi.ac.uk/ena/data/view/BC117302 Ensembl ENST00000544719 http://www.ensembl.org/id/ENST00000544719 Ensembl ENST00000614994 http://www.ensembl.org/id/ENST00000614994 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_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 GO_function GO:0046872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872 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 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 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: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 3.30.160.60 http://www.cathdb.info/version/latest/superfamily/3.30.160.60 GeneCards ZNF285 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ZNF285 GeneID 26974 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=26974 HGNC HGNC:13079 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13079 HOVERGEN HBG018163 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018163&db=HOVERGEN HPA HPA046100 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046100 HPA HPA049212 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA049212 InParanoid Q96NJ3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96NJ3 InterPro IPR001909 http://www.ebi.ac.uk/interpro/entry/IPR001909 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 Jabion 26974 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=26974 KEGG_Brite ko03000 http://www.genome.jp/dbget-bin/www_bget?ko03000 KEGG_Gene hsa:26974 http://www.genome.jp/dbget-bin/www_bget?hsa:26974 KEGG_Orthology KO:K09228 http://www.genome.jp/dbget-bin/www_bget?KO:K09228 PROSITE PS00028 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00028 PROSITE PS50157 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50157 PROSITE PS50805 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50805 PSORT swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:ZN285_HUMAN PSORT-B swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:ZN285_HUMAN PSORT2 swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:ZN285_HUMAN Pfam PF00096 http://pfam.xfam.org/family/PF00096 Pfam PF01352 http://pfam.xfam.org/family/PF01352 PharmGKB PA165394833 http://www.pharmgkb.org/do/serve?objId=PA165394833&objCls=Gene Phobius swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:ZN285_HUMAN PhylomeDB Q96NJ3 http://phylomedb.org/?seqid=Q96NJ3 ProteinModelPortal Q96NJ3 http://www.proteinmodelportal.org/query/uniprot/Q96NJ3 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-212436 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-212436 RefSeq NP_001278417 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278417 RefSeq NP_001278418 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278418 RefSeq NP_001278419 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278419 RefSeq NP_001278420 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278420 RefSeq NP_689567 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689567 SMART SM00349 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00349 SMART SM00355 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00355 SMR Q96NJ3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96NJ3 STRING 9606.ENSP00000333595 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000333595&targetmode=cogs SUPFAM SSF109640 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF109640 UCSC uc002ozd http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ozd&org=rat UniGene Hs.709428 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.709428 UniProtKB ZN285_HUMAN http://www.uniprot.org/uniprot/ZN285_HUMAN UniProtKB-AC Q96NJ3 http://www.uniprot.org/uniprot/Q96NJ3 charge swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/charge/swissprot:ZN285_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:ZN285_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:ZN285_HUMAN garnier swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:ZN285_HUMAN helixturnhelix swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:ZN285_HUMAN hmoment swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:ZN285_HUMAN iep swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/iep/swissprot:ZN285_HUMAN inforesidue swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:ZN285_HUMAN neXtProt NX_Q96NJ3 http://www.nextprot.org/db/entry/NX_Q96NJ3 octanol swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:ZN285_HUMAN pepcoil swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:ZN285_HUMAN pepdigest swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:ZN285_HUMAN pepinfo swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:ZN285_HUMAN pepnet swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:ZN285_HUMAN pepstats swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:ZN285_HUMAN pepwheel swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:ZN285_HUMAN pepwindow swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:ZN285_HUMAN sigcleave swissprot:ZN285_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:ZN285_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MBOA7_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96N66-1; Sequence=Displayed; Name=2; IsoId=Q96N66-2; Sequence=VSP_030967; Name=3; IsoId=Q96N66-3; Sequence=VSP_030968; # AltName MBOA7_HUMAN 1-acylglycerophosphatidylinositol O-acyltransferase # AltName MBOA7_HUMAN Bladder and breast carcinoma-overexpressed gene 1 protein # AltName MBOA7_HUMAN Leukocyte receptor cluster member 4 # AltName MBOA7_HUMAN Lysophosphatidylinositol acyltransferase # AltName MBOA7_HUMAN Membrane-bound O-acyltransferase domain-containing protein 7 # BioGrid 122562 45 # CATALYTIC ACTIVITY Acyl-CoA + 1-acyl-sn-glycero-3- phosphatidylinositol = CoA + 1,2-diacyl-sn-glycero-3- phosphatidylinositol. {ECO:0000269|PubMed 18094042}. # CATALYTIC ACTIVITY Acyl-[acyl-carrier-protein] + 1-acyl-sn- glycerol 3-phosphate = [acyl-carrier-protein] + 1,2-diacyl-sn- glycerol 3-phosphate. {ECO:0000269|PubMed 18094042}. # CCDS CCDS12883 -. [Q96N66-1] # CCDS CCDS54315 -. [Q96N66-2] # CCDS CCDS54316 -. [Q96N66-3] # ChiTaRS MBOAT7 human # ENZYME REGULATION MBOA7_HUMAN Activity is inhibited by thimerosal. # Ensembl ENST00000245615 ENSP00000245615; ENSG00000125505. [Q96N66-1] # Ensembl ENST00000338624 ENSP00000344377; ENSG00000125505. [Q96N66-2] # Ensembl ENST00000391754 ENSP00000375634; ENSG00000125505. [Q96N66-3] # Ensembl ENST00000431666 ENSP00000410503; ENSG00000125505. [Q96N66-2] # Ensembl ENST00000610862 ENSP00000481119; ENSG00000276935. [Q96N66-3] # Ensembl ENST00000611239 ENSP00000481947; ENSG00000277025. [Q96N66-2] # Ensembl ENST00000611602 ENSP00000482369; ENSG00000278322. [Q96N66-2] # Ensembl ENST00000612053 ENSP00000482884; ENSG00000278519. [Q96N66-2] # Ensembl ENST00000612567 ENSP00000483526; ENSG00000277733. [Q96N66-2] # Ensembl ENST00000613506 ENSP00000478965; ENSG00000274194. [Q96N66-1] # Ensembl ENST00000613746 ENSP00000484933; ENSG00000275118. [Q96N66-1] # Ensembl ENST00000614279 ENSP00000480894; ENSG00000276935. [Q96N66-2] # Ensembl ENST00000615282 ENSP00000483987; ENSG00000275118. [Q96N66-2] # Ensembl ENST00000615453 ENSP00000482625; ENSG00000278519. [Q96N66-1] # Ensembl ENST00000617012 ENSP00000484199; ENSG00000276935. [Q96N66-1] # Ensembl ENST00000617656 ENSP00000481864; ENSG00000274194. [Q96N66-2] # Ensembl ENST00000617772 ENSP00000480575; ENSG00000274194. [Q96N66-2] # Ensembl ENST00000618378 ENSP00000482252; ENSG00000277025. [Q96N66-1] # Ensembl ENST00000618826 ENSP00000483839; ENSG00000277923. [Q96N66-2] # Ensembl ENST00000618899 ENSP00000480531; ENSG00000273592. [Q96N66-3] # Ensembl ENST00000619670 ENSP00000479750; ENSG00000275118. [Q96N66-3] # Ensembl ENST00000619745 ENSP00000481544; ENSG00000277025. [Q96N66-2] # Ensembl ENST00000619842 ENSP00000481455; ENSG00000277923. [Q96N66-1] # Ensembl ENST00000619855 ENSP00000484954; ENSG00000273592. [Q96N66-1] # Ensembl ENST00000620311 ENSP00000478522; ENSG00000277923. [Q96N66-2] # Ensembl ENST00000620371 ENSP00000479760; ENSG00000273592. [Q96N66-2] # Ensembl ENST00000620636 ENSP00000482742; ENSG00000278322. [Q96N66-2] # Ensembl ENST00000621146 ENSP00000481758; ENSG00000277733. [Q96N66-2] # Ensembl ENST00000621455 ENSP00000477891; ENSG00000278519. [Q96N66-2] # Ensembl ENST00000621612 ENSP00000478088; ENSG00000278322. [Q96N66-1] # Ensembl ENST00000621875 ENSP00000478041; ENSG00000277733. [Q96N66-1] # ExpressionAtlas Q96N66 baseline and differential # FUNCTION MBOA7_HUMAN Acyltransferase which mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3- phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. {ECO 0000269|PubMed 18094042, ECO 0000269|PubMed 18772128}. # GO_component GO:0005789 endoplasmic reticulum membrane; TAS:Reactome. # GO_component GO:0016020 membrane; IDA:UniProtKB. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity; TAS:Reactome. # GO_function GO:0004147 dihydrolipoamide branched chain acyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0008951 palmitoleoyl [acyl-carrier-protein]-dependent acyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016406 carnitine O-acyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016412 serine O-acyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016413 O-acetyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016414 O-octanoyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016416 O-palmitoyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016418 S-acetyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016419 S-malonyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016454 C-palmitoyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016749 N-succinyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016750 O-succinyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016751 S-succinyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0016753 O-sinapoyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0018030 peptidyl-lysine N6-myristoyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0018031 peptidyl-lysine N6-palmitoyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0018711 benzoyl acetate-CoA thiolase activity; IEA:UniProtKB-EC. # GO_function GO:0018712 3-hydroxybutyryl-CoA thiolase activity; IEA:UniProtKB-EC. # GO_function GO:0018713 3-ketopimelyl-CoA thiolase activity; IEA:UniProtKB-EC. # GO_function GO:0019186 acyl-CoA N-acyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0019705 protein-cysteine S-myristoyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0032216 glucosaminyl-phosphotidylinositol O-acyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0034737 ergosterol O-acyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0034738 lanosterol O-acyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0034848 naphthyl-2-oxomethyl-succinyl-CoA succinyl transferase activity; IEA:UniProtKB-EC. # GO_function GO:0034851 2,4,4-trimethyl-3-oxopentanoyl-CoA 2-C-propanoyl transferase activity; IEA:UniProtKB-EC. # GO_function GO:0034915 2-methylhexanoyl-CoA C-acetyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0034919 butyryl-CoA 2-C-propionyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0034945 2,6-dimethyl-5-methylene-3-oxo-heptanoyl-CoA C-acetyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0043741 L-2-aminoadipate N-acetyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0043806 keto acid formate lyase activity; IEA:UniProtKB-EC. # GO_function GO:0043849 Ras palmitoyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0046941 azetidine-2-carboxylic acid acetyltransferase activity; IEA:UniProtKB-EC. # GO_function GO:0047144 2-acylglycerol-3-phosphate O-acyltransferase activity; TAS:Reactome. # GO_function GO:0052858 peptidyl-lysine acetyltransferase activity; IEA:UniProtKB-EC. # GO_function MBOA7_HUMAN GO 0090595 acetyl-CoA L-lysine N6-acetyltransferase; IEA UniProtKB-EC. # GO_process GO:0008654 phospholipid biosynthetic process; IEA:UniProtKB-KW. # GO_process GO:0021591 ventricular system development; IEA:Ensembl. # GO_process GO:0021819 layer formation in cerebral cortex; IEA:Ensembl. # GO_process GO:0036149 phosphatidylinositol acyl-chain remodeling; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0016746 transferase activity, transferring acyl groups # GOslim_process GO:0006629 lipid metabolic process # GOslim_process GO:0009058 biosynthetic process # GOslim_process GO:0048646 anatomical structure formation involved in morphogenesis # GOslim_process GO:0048856 anatomical structure development # Genevisible Q96N66 HS # HGNC HGNC:15505 MBOAT7 # INTERACTION MBOA7_HUMAN Q86WV6 TMEM173; NbExp=2; IntAct=EBI-6116499, EBI-2800345; Q8VCW4 Unc93b1 (xeno); NbExp=2; IntAct=EBI-6116499, EBI-6116986; # IntAct Q96N66 32 # InterPro IPR004299 MBOAT_fam # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01004 Lipid biosynthesis proteins # KEGG_Pathway ko00564 Glycerophospholipid metabolism # MIM 606048 gene # Organism MBOA7_HUMAN Homo sapiens (Human) # PATHWAY Lipid metabolism; phospholipid metabolism. {ECO:0000269|PubMed 18094042}. # Pfam PF03062 MBOAT # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-1482922 Acyl chain remodelling of PI # RecName MBOA7_HUMAN Lysophospholipid acyltransferase 7 # RefSeq NP_001139528 NM_001146056.2. [Q96N66-2] # RefSeq NP_001139554 NM_001146082.2. [Q96N66-3] # RefSeq NP_001139555 NM_001146083.2. [Q96N66-2] # RefSeq NP_077274 NM_024298.4. [Q96N66-1] # RefSeq XP_011525601 XM_011527299.2. [Q96N66-1] # RefSeq XP_011525602 XM_011527300.2. [Q96N66-1] # SEQUENCE CAUTION Sequence=AAB37433.1; Type=Frameshift; Positions=63, 93, 144, 186; Evidence={ECO 0000305}; # SIMILARITY Belongs to the membrane-bound acyltransferase family. {ECO 0000305}. # SUBCELLULAR LOCATION MBOA7_HUMAN Membrane {ECO 0000305}; Multi-pass membrane protein {ECO 0000305}. # TISSUE SPECIFICITY Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. {ECO:0000269|PubMed 18772128}. # UCSC uc032icm human. [Q96N66-1] # eggNOG COG5202 LUCA # eggNOG KOG2706 Eukaryota BLAST swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MBOA7_HUMAN BioCyc ZFISH:ENSG00000125505-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000125505-MONOMER COXPRESdb 79143 http://coxpresdb.jp/data/gene/79143.shtml CleanEx HS_MBOAT7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MBOAT7 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.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1074/jbc.M806194200 http://dx.doi.org/10.1074/jbc.M806194200 DOI 10.1091/mbc.E07-09-0893 http://dx.doi.org/10.1091/mbc.E07-09-0893 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:2.3.1.- http://www.genome.jp/dbget-bin/www_bget?EC:2.3.1.- EC_number EC:2.3.1.n4 http://www.genome.jp/dbget-bin/www_bget?EC:2.3.1.n4 EMBL AK055908 http://www.ebi.ac.uk/ena/data/view/AK055908 EMBL AK298689 http://www.ebi.ac.uk/ena/data/view/AK298689 EMBL BC002512 http://www.ebi.ac.uk/ena/data/view/BC002512 EMBL BC003164 http://www.ebi.ac.uk/ena/data/view/BC003164 EMBL BC006309 http://www.ebi.ac.uk/ena/data/view/BC006309 EMBL BC015857 http://www.ebi.ac.uk/ena/data/view/BC015857 EMBL CH471135 http://www.ebi.ac.uk/ena/data/view/CH471135 EMBL CH471135 http://www.ebi.ac.uk/ena/data/view/CH471135 EMBL CU151838 http://www.ebi.ac.uk/ena/data/view/CU151838 EMBL CU151838 http://www.ebi.ac.uk/ena/data/view/CU151838 EMBL CU457734 http://www.ebi.ac.uk/ena/data/view/CU457734 EMBL CU457734 http://www.ebi.ac.uk/ena/data/view/CU457734 EMBL EU016381 http://www.ebi.ac.uk/ena/data/view/EU016381 EMBL S82470 http://www.ebi.ac.uk/ena/data/view/S82470 ENZYME 2.3.1.- http://enzyme.expasy.org/EC/2.3.1.- ENZYME 2.3.1.n4 http://enzyme.expasy.org/EC/2.3.1.n4 Ensembl ENST00000245615 http://www.ensembl.org/id/ENST00000245615 Ensembl ENST00000338624 http://www.ensembl.org/id/ENST00000338624 Ensembl ENST00000391754 http://www.ensembl.org/id/ENST00000391754 Ensembl ENST00000431666 http://www.ensembl.org/id/ENST00000431666 Ensembl ENST00000610862 http://www.ensembl.org/id/ENST00000610862 Ensembl ENST00000611239 http://www.ensembl.org/id/ENST00000611239 Ensembl ENST00000611602 http://www.ensembl.org/id/ENST00000611602 Ensembl ENST00000612053 http://www.ensembl.org/id/ENST00000612053 Ensembl ENST00000612567 http://www.ensembl.org/id/ENST00000612567 Ensembl ENST00000613506 http://www.ensembl.org/id/ENST00000613506 Ensembl ENST00000613746 http://www.ensembl.org/id/ENST00000613746 Ensembl ENST00000614279 http://www.ensembl.org/id/ENST00000614279 Ensembl ENST00000615282 http://www.ensembl.org/id/ENST00000615282 Ensembl ENST00000615453 http://www.ensembl.org/id/ENST00000615453 Ensembl ENST00000617012 http://www.ensembl.org/id/ENST00000617012 Ensembl ENST00000617656 http://www.ensembl.org/id/ENST00000617656 Ensembl ENST00000617772 http://www.ensembl.org/id/ENST00000617772 Ensembl ENST00000618378 http://www.ensembl.org/id/ENST00000618378 Ensembl ENST00000618826 http://www.ensembl.org/id/ENST00000618826 Ensembl ENST00000618899 http://www.ensembl.org/id/ENST00000618899 Ensembl ENST00000619670 http://www.ensembl.org/id/ENST00000619670 Ensembl ENST00000619745 http://www.ensembl.org/id/ENST00000619745 Ensembl ENST00000619842 http://www.ensembl.org/id/ENST00000619842 Ensembl ENST00000619855 http://www.ensembl.org/id/ENST00000619855 Ensembl ENST00000620311 http://www.ensembl.org/id/ENST00000620311 Ensembl ENST00000620371 http://www.ensembl.org/id/ENST00000620371 Ensembl ENST00000620636 http://www.ensembl.org/id/ENST00000620636 Ensembl ENST00000621146 http://www.ensembl.org/id/ENST00000621146 Ensembl ENST00000621455 http://www.ensembl.org/id/ENST00000621455 Ensembl ENST00000621612 http://www.ensembl.org/id/ENST00000621612 Ensembl ENST00000621875 http://www.ensembl.org/id/ENST00000621875 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_function GO:0003841 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003841 GO_function GO:0004147 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004147 GO_function GO:0008951 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008951 GO_function GO:0016406 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016406 GO_function GO:0016412 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016412 GO_function GO:0016413 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016413 GO_function GO:0016414 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016414 GO_function GO:0016416 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016416 GO_function GO:0016418 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016418 GO_function GO:0016419 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016419 GO_function GO:0016454 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016454 GO_function GO:0016749 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016749 GO_function GO:0016750 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016750 GO_function GO:0016751 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016751 GO_function GO:0016753 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016753 GO_function GO:0018030 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018030 GO_function GO:0018031 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018031 GO_function GO:0018711 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018711 GO_function GO:0018712 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018712 GO_function GO:0018713 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0018713 GO_function GO:0019186 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019186 GO_function GO:0019705 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019705 GO_function GO:0032216 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032216 GO_function GO:0034737 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034737 GO_function GO:0034738 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034738 GO_function GO:0034848 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034848 GO_function GO:0034851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034851 GO_function GO:0034915 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034915 GO_function GO:0034919 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034919 GO_function GO:0034945 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034945 GO_function GO:0043741 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043741 GO_function GO:0043806 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043806 GO_function GO:0043849 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043849 GO_function GO:0046941 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046941 GO_function GO:0047144 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0047144 GO_function GO:0052858 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0052858 GO_function GO:0090595 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090595 GO_process GO:0008654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008654 GO_process GO:0021591 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021591 GO_process GO:0021819 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021819 GO_process GO:0036149 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036149 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_function GO:0016746 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016746 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: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 MBOAT7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MBOAT7 GeneID 79143 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=79143 GeneTree ENSGT00550000074565 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074565 HGNC HGNC:15505 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15505 HOVERGEN HBG105712 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG105712&db=HOVERGEN HPA HPA055967 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA055967 InParanoid Q96N66 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96N66 IntAct Q96N66 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96N66* IntEnz 2.3.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.1 IntEnz 2.3.1.n4 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.1.n4 InterPro IPR004299 http://www.ebi.ac.uk/interpro/entry/IPR004299 Jabion 79143 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=79143 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 ko01004 http://www.genome.jp/dbget-bin/www_bget?ko01004 KEGG_Gene hsa:79143 http://www.genome.jp/dbget-bin/www_bget?hsa:79143 KEGG_Orthology KO:K13516 http://www.genome.jp/dbget-bin/www_bget?KO:K13516 KEGG_Pathway ko00564 http://www.genome.jp/kegg-bin/show_pathway?ko00564 KEGG_Reaction rn:R09034 http://www.genome.jp/dbget-bin/www_bget?rn:R09034 MIM 606048 http://www.ncbi.nlm.nih.gov/omim/606048 MINT MINT-4991231 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4991231 OMA EMPFKTH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EMPFKTH OrthoDB EOG091G074Q http://cegg.unige.ch/orthodb/results?searchtext=EOG091G074Q PSORT swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MBOA7_HUMAN PSORT-B swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MBOA7_HUMAN PSORT2 swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MBOA7_HUMAN Pfam PF03062 http://pfam.xfam.org/family/PF03062 PharmGKB PA162395057 http://www.pharmgkb.org/do/serve?objId=PA162395057&objCls=Gene Phobius swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MBOA7_HUMAN PhylomeDB Q96N66 http://phylomedb.org/?seqid=Q96N66 ProteinModelPortal Q96N66 http://www.proteinmodelportal.org/query/uniprot/Q96N66 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 18094042 http://www.ncbi.nlm.nih.gov/pubmed/18094042 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 18772128 http://www.ncbi.nlm.nih.gov/pubmed/18772128 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 8702217 http://www.ncbi.nlm.nih.gov/pubmed/8702217 Reactome R-HSA-1482922 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1482922 RefSeq NP_001139528 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139528 RefSeq NP_001139554 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139554 RefSeq NP_001139555 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001139555 RefSeq NP_077274 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_077274 RefSeq XP_011525601 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011525601 RefSeq XP_011525602 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011525602 STRING 9606.ENSP00000245615 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000245615&targetmode=cogs UCSC uc032icm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc032icm&org=rat UniGene Hs.467279 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.467279 UniProtKB MBOA7_HUMAN http://www.uniprot.org/uniprot/MBOA7_HUMAN UniProtKB-AC Q96N66 http://www.uniprot.org/uniprot/Q96N66 charge swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MBOA7_HUMAN eggNOG COG5202 http://eggnogapi.embl.de/nog_data/html/tree/COG5202 eggNOG KOG2706 http://eggnogapi.embl.de/nog_data/html/tree/KOG2706 epestfind swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MBOA7_HUMAN garnier swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MBOA7_HUMAN helixturnhelix swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MBOA7_HUMAN hmoment swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MBOA7_HUMAN iep swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MBOA7_HUMAN inforesidue swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MBOA7_HUMAN neXtProt NX_Q96N66 http://www.nextprot.org/db/entry/NX_Q96N66 octanol swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MBOA7_HUMAN pepcoil swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MBOA7_HUMAN pepdigest swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MBOA7_HUMAN pepinfo swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MBOA7_HUMAN pepnet swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MBOA7_HUMAN pepstats swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MBOA7_HUMAN pepwheel swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MBOA7_HUMAN pepwindow swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MBOA7_HUMAN sigcleave swissprot:MBOA7_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MBOA7_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS TCPD_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P50991-1; Sequence=Displayed; Name=2; IsoId=P50991-2; Sequence=VSP_045537; Note=No experimental confirmation available.; # AltName TCPD_HUMAN CCT-delta # AltName TCPD_HUMAN Stimulator of TAR RNA-binding # BioGrid 115826 205 # CCDS CCDS33206 -. [P50991-1] # CCDS CCDS58711 -. [P50991-2] # CDD cd03338 TCP1_delta # ChiTaRS CCT4 human # Ensembl ENST00000394440 ENSP00000377958; ENSG00000115484. [P50991-1] # Ensembl ENST00000544079 ENSP00000443061; ENSG00000115484. [P50991-2] # FUNCTION TCPD_HUMAN Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin. {ECO 0000269|PubMed 20080638}. # GO_component GO:0002199 zona pellucida receptor complex; IEA:Ensembl. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005813 centrosome; IDA:MGI. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0005832 chaperonin-containing T-complex; IDA:UniProtKB. # GO_component GO:0005874 microtubule; IDA:UniProtKB. # GO_component GO:0042470 melanosome; IEA:UniProtKB-SubCell. # GO_component GO:0042995 cell projection; IEA:UniProtKB-KW. # GO_component GO:0044297 cell body; IEA:Ensembl. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0051082 unfolded protein binding; TAS:ProtInc. # GO_process GO:0006457 protein folding; TAS:Reactome. # GO_process GO:0007339 binding of sperm to zona pellucida; IEA:Ensembl. # GO_process GO:0032212 positive regulation of telomere maintenance via telomerase; IMP:BHF-UCL. # GO_process GO:0050821 protein stabilization; IMP:BHF-UCL. # GO_process GO:0051973 positive regulation of telomerase activity; IMP:BHF-UCL. # GO_process GO:0090666 scaRNA localization to Cajal body; IMP:BHF-UCL. # GO_process GO:1901998 toxin transport; IEA:Ensembl. # GO_process GO:1904851 positive regulation of establishment of protein localization to telomere; IMP:BHF-UCL. # GO_process GO:1904871 positive regulation of protein localization to Cajal body; IMP:BHF-UCL. # GO_process GO:1904874 positive regulation of telomerase RNA localization to Cajal body; IMP:BHF-UCL. # GOslim_component GO:0005575 cellular_component # 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:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_component GO:0043234 protein complex # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0043167 ion binding # GOslim_function GO:0051082 unfolded protein binding # GOslim_process GO:0006457 protein folding # 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 P50991 HS # HGNC HGNC:1617 CCT4 # INTERACTION TCPD_HUMAN P78380 OLR1; NbExp=3; IntAct=EBI-356876, EBI-7151999; # IntAct P50991 115 # InterPro IPR002194 Chaperonin_TCP-1_CS # InterPro IPR002423 Cpn60/TCP-1 # InterPro IPR012717 Chap_CCT_delta # 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 605142 gene # Organism TCPD_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 2 # 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-5620922 BBSome-mediated cargo-targeting to cilium # Reactome R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding # RecName TCPD_HUMAN T-complex protein 1 subunit delta # RefSeq NP_001243650 NM_001256721.1. [P50991-2] # RefSeq NP_006421 NM_006430.3. [P50991-1] # SIMILARITY Belongs to the TCP-1 chaperonin family. {ECO 0000305}. # SUBCELLULAR LOCATION TCPD_HUMAN Cytoplasm {ECO 0000269|PubMed 17081065, ECO 0000269|PubMed 20080638}. Melanosome {ECO 0000269|PubMed 17081065}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO 0000269|PubMed 20080638}. Cytoplasm, cytoskeleton, cilium basal body {ECO 0000250|UniProtKB P80315}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO 0000269|PubMed 17081065}. # SUBUNIT Heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter. Interacts with PACRG. Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Interacts with DYX1C1 (By similarity). {ECO 0000250}. # SUPFAM SSF52029 SSF52029 # TIGRFAMs TIGR02342 chap_CCT_delta # TopDownProteomics P50991-1 -. [P50991-1] # UCSC uc002sbo human. [P50991-1] # eggNOG COG0459 LUCA # eggNOG KOG0358 Eukaryota BLAST swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:TCPD_HUMAN BioCyc ZFISH:ENSG00000115484-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000115484-MONOMER COXPRESdb 10575 http://coxpresdb.jp/data/gene/10575.shtml CleanEx HS_CCT4 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CCT4 DIP DIP-32971N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-32971N 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/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/nbt810 http://dx.doi.org/10.1038/nbt810 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0910268107 http://dx.doi.org/10.1073/pnas.0910268107 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1074/jbc.271.8.4201 http://dx.doi.org/10.1074/jbc.271.8.4201 DOI 10.1074/jbc.M309655200 http://dx.doi.org/10.1074/jbc.M309655200 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 10.1128/MCB.18.12.7584 http://dx.doi.org/10.1128/MCB.18.12.7584 DOI 10.1186/1752-0509-5-17 http://dx.doi.org/10.1186/1752-0509-5-17 EMBL AC107081 http://www.ebi.ac.uk/ena/data/view/AC107081 EMBL AF026291 http://www.ebi.ac.uk/ena/data/view/AF026291 EMBL AK303082 http://www.ebi.ac.uk/ena/data/view/AK303082 EMBL AK312586 http://www.ebi.ac.uk/ena/data/view/AK312586 EMBL BC014676 http://www.ebi.ac.uk/ena/data/view/BC014676 EMBL BC106933 http://www.ebi.ac.uk/ena/data/view/BC106933 EMBL BC106934 http://www.ebi.ac.uk/ena/data/view/BC106934 EMBL U38846 http://www.ebi.ac.uk/ena/data/view/U38846 Ensembl ENST00000394440 http://www.ensembl.org/id/ENST00000394440 Ensembl ENST00000544079 http://www.ensembl.org/id/ENST00000544079 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0002199 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002199 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:0005832 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005832 GO_component GO:0005874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005874 GO_component GO:0042470 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042470 GO_component GO:0042995 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042995 GO_component GO:0044297 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044297 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:0044822 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822 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:0007339 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007339 GO_process GO:0032212 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032212 GO_process GO:0050821 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050821 GO_process GO:0051973 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051973 GO_process GO:0090666 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090666 GO_process GO:1901998 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901998 GO_process GO:1904851 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904851 GO_process GO:1904871 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904871 GO_process GO:1904874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904874 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: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: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:0003723 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723 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: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 CCT4 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CCT4 GeneID 10575 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10575 GeneTree ENSGT00550000074956 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074956 HGNC HGNC:1617 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1617 HOGENOM HOG000226735 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000226735&db=HOGENOM6 HOVERGEN HBG106507 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG106507&db=HOVERGEN HPA HPA029349 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA029349 InParanoid P50991 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P50991 IntAct P50991 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P50991* InterPro IPR002194 http://www.ebi.ac.uk/interpro/entry/IPR002194 InterPro IPR002423 http://www.ebi.ac.uk/interpro/entry/IPR002423 InterPro IPR012717 http://www.ebi.ac.uk/interpro/entry/IPR012717 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 10575 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10575 KEGG_Brite ko03110 http://www.genome.jp/dbget-bin/www_bget?ko03110 KEGG_Gene hsa:10575 http://www.genome.jp/dbget-bin/www_bget?hsa:10575 KEGG_Orthology KO:K09496 http://www.genome.jp/dbget-bin/www_bget?KO:K09496 MIM 605142 http://www.ncbi.nlm.nih.gov/omim/605142 MINT MINT-1157924 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1157924 OMA TNDLSLH http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=TNDLSLH OrthoDB EOG091G05G4 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G05G4 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:TCPD_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:TCPD_HUMAN PSORT-B swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:TCPD_HUMAN PSORT2 swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:TCPD_HUMAN Pfam PF00118 http://pfam.xfam.org/family/PF00118 PharmGKB PA26181 http://www.pharmgkb.org/do/serve?objId=PA26181&objCls=Gene Phobius swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:TCPD_HUMAN PhylomeDB P50991 http://phylomedb.org/?seqid=P50991 ProteinModelPortal P50991 http://www.proteinmodelportal.org/query/uniprot/P50991 PubMed 12665801 http://www.ncbi.nlm.nih.gov/pubmed/12665801 PubMed 14532270 http://www.ncbi.nlm.nih.gov/pubmed/14532270 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 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 20080638 http://www.ncbi.nlm.nih.gov/pubmed/20080638 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 PubMed 8626763 http://www.ncbi.nlm.nih.gov/pubmed/8626763 PubMed 9819444 http://www.ncbi.nlm.nih.gov/pubmed/9819444 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-5620922 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5620922 Reactome R-HSA-6814122 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6814122 RefSeq NP_001243650 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001243650 RefSeq NP_006421 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_006421 STRING 9606.ENSP00000377958 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000377958&targetmode=cogs SUPFAM SSF52029 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52029 TIGRFAMs TIGR02342 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR02342 UCSC uc002sbo http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002sbo&org=rat UniGene Hs.421509 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.421509 UniProtKB TCPD_HUMAN http://www.uniprot.org/uniprot/TCPD_HUMAN UniProtKB-AC P50991 http://www.uniprot.org/uniprot/P50991 charge swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/charge/swissprot:TCPD_HUMAN eggNOG COG0459 http://eggnogapi.embl.de/nog_data/html/tree/COG0459 eggNOG KOG0358 http://eggnogapi.embl.de/nog_data/html/tree/KOG0358 epestfind swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:TCPD_HUMAN garnier swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:TCPD_HUMAN helixturnhelix swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:TCPD_HUMAN hmoment swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:TCPD_HUMAN iep swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/iep/swissprot:TCPD_HUMAN inforesidue swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:TCPD_HUMAN neXtProt NX_P50991 http://www.nextprot.org/db/entry/NX_P50991 octanol swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:TCPD_HUMAN pepcoil swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:TCPD_HUMAN pepdigest swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:TCPD_HUMAN pepinfo swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:TCPD_HUMAN pepnet swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:TCPD_HUMAN pepstats swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:TCPD_HUMAN pepwheel swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:TCPD_HUMAN pepwindow swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:TCPD_HUMAN sigcleave swissprot:TCPD_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:TCPD_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CU002_HUMAN Event=Alternative splicing; Named isoforms=4; Name=Long; IsoId=O43822-1; Sequence=Displayed; Name=Short; IsoId=O43822-2; Sequence=VSP_004138, VSP_004139; Name=3; IsoId=O43822-3; Sequence=VSP_047417; Note=Contains a phosphoserine at position 177. {ECO 0000244|PubMed 19369195}; Name=4; IsoId=O43822-4; Sequence=VSP_047417, VSP_047418; Note=No experimental confirmation available. Contains a phosphoserine at position 177. {ECO 0000244|PubMed 19369195}; # AltName CU002_HUMAN C21orf-HUMF09G8.5 # AltName CU002_HUMAN Leucine-rich repeat-containing protein 76 # AltName CU002_HUMAN YF5/A2 # BioGrid 107211 16 # CCDS CCDS13709 -. [O43822-1] # CCDS CCDS59444 -. [O43822-4] # CCDS CCDS59445 -. [O43822-3] # ChiTaRS C21orf2 human # DISEASE CU002_HUMAN Note=Defects in C21orf2 may be the cause of a autosomal recessive spondylometaphyseal dysplasia axial. Spondylometaphyseal dysplasia axial is a clinical subtype of spondylometaphyseal dysplasia, in which mainly axial skeleton and retina are affected. Affected individuals show postnatal growth deficiency, mild short stature, rhizomelic shortening of the limbs without bowing of the long bones of the legs, axial metaphyseal abnormalities with progressive mild platyspondyly, progressive femoral metaphyseal changes, decreased anteroposterior diameter of the thorax with markedly flared anterior ends of the ribs, normal tubular bones, and early onset and progressive visual impairment, with cone-rod dystrophy and/or optic atrophy. {ECO 0000305|PubMed 26974433}. # DISEASE CU002_HUMAN Note=Defects in C21orf2 may play a role in Jeune syndrome. Jeune syndrome is a form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Additional features include polydactyly, kidney cysts and renal failure, retinal degeneration and liver disease are variably present. {ECO 0000305|PubMed 26167768}. # Ensembl ENST00000325223 ENSP00000317302; ENSG00000160226. [O43822-3] # Ensembl ENST00000339818 ENSP00000344566; ENSG00000160226. [O43822-1] # Ensembl ENST00000397956 ENSP00000381047; ENSG00000160226. [O43822-4] # FUNCTION CU002_HUMAN May play a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed 21834987). {ECO 0000250|UniProtKB Q8C6G1, ECO 0000269|PubMed 21834987}. # GO_component GO:0005737 cytoplasm; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IDA:UniProtKB. # GO_component GO:0005886 plasma membrane; IDA:UniProtKB. # GO_component GO:0032391 photoreceptor connecting cilium; ISS:UniProtKB. # GO_component GO:0036064 ciliary basal body; IDA:UniProtKB. # GO_process GO:0007010 cytoskeleton organization; IMP:UniProtKB. # GO_process GO:0007224 smoothened signaling pathway; IEA:Ensembl. # GO_process GO:0008360 regulation of cell shape; IMP:UniProtKB. # GO_process GO:0060271 cilium morphogenesis; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005815 microtubule organizing center # GOslim_component GO:0005886 plasma membrane # 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 # Gene3D 3.80.10.10 -; 1. # Genevisible O43822 HS # HGNC HGNC:1260 C21orf2 # INTERACTION CU002_HUMAN O00244 ATOX1; NbExp=3; IntAct=EBI-2835332, EBI-10179267; Q53SE7 FLJ13057; NbExp=3; IntAct=EBI-2835332, EBI-10172181; # IntAct O43822 17 # InterPro IPR001611 Leu-rich_rpt # InterPro IPR003603 U2A'_phosphoprotein32A_C # InterPro IPR032675 L_dom-like # MIM 603191 gene # Organism CU002_HUMAN Homo sapiens (Human) # PROSITE PS51450 LRR; 2 # Proteomes UP000005640 Chromosome 21 # RecName CU002_HUMAN Protein C21orf2 # RefSeq NP_001258369 NM_001271440.1. [O43822-3] # RefSeq NP_001258370 NM_001271441.1. [O43822-4] # RefSeq NP_001258371 NM_001271442.1 # RefSeq NP_004919 NM_004928.2. [O43822-1] # SIMILARITY Contains 1 LRRCT domain. {ECO 0000305}. # SIMILARITY Contains 3 LRR (leucine-rich) repeats. {ECO 0000305}. # SMART SM00446 LRRcap # SUBCELLULAR LOCATION CU002_HUMAN Mitochondrion {ECO 0000269|PubMed 9325172}. Cytoplasm, cytoskeleton, cilium basal body {ECO 0000269|PubMed 26167768}. Note=Colocalizes with NEK1 and SPATA7 at the basal body. {ECO 0000269|PubMed 26167768}. # SUBUNIT CU002_HUMAN Found in a complex with C21orf2, NEK1 and SPATA7 (PubMed 26167768). Interacts with NEK1 (PubMed 26167768). {ECO 0000269|PubMed 26167768}. # SUPFAM SSF52058 SSF52058 # TISSUE SPECIFICITY CU002_HUMAN Widely expressed (PubMed 26974433, PubMed 9325172). {ECO 0000269|PubMed 26974433, ECO 0000269|PubMed 9325172}. # UCSC uc002zep human. [O43822-1] # eggNOG ENOG410Y9AE LUCA # eggNOG KOG2123 Eukaryota BLAST swissprot:CU002_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CU002_HUMAN BioCyc ZFISH:ENSG00000160226-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000160226-MONOMER COXPRESdb 755 http://coxpresdb.jp/data/gene/755.shtml CleanEx HS_C21orf2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C21orf2 DOI 10.1006/bbrc.1997.7352 http://dx.doi.org/10.1006/bbrc.1997.7352 DOI 10.1006/geno.1997.5066 http://dx.doi.org/10.1006/geno.1997.5066 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/ncb3201 http://dx.doi.org/10.1038/ncb3201 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 10.1186/1741-7007-9-54 http://dx.doi.org/10.1186/1741-7007-9-54 DOI 10.1371/journal.pone.0150555 http://dx.doi.org/10.1371/journal.pone.0150555 EMBL AP001062 http://www.ebi.ac.uk/ena/data/view/AP001062 EMBL AP001754 http://www.ebi.ac.uk/ena/data/view/AP001754 EMBL BC031300 http://www.ebi.ac.uk/ena/data/view/BC031300 EMBL BC072012 http://www.ebi.ac.uk/ena/data/view/BC072012 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL U84569 http://www.ebi.ac.uk/ena/data/view/U84569 EMBL U84570 http://www.ebi.ac.uk/ena/data/view/U84570 EMBL Y11392 http://www.ebi.ac.uk/ena/data/view/Y11392 EMBL Z93322 http://www.ebi.ac.uk/ena/data/view/Z93322 Ensembl ENST00000325223 http://www.ensembl.org/id/ENST00000325223 Ensembl ENST00000339818 http://www.ensembl.org/id/ENST00000339818 Ensembl ENST00000397956 http://www.ensembl.org/id/ENST00000397956 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:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0032391 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032391 GO_component GO:0036064 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036064 GO_process GO:0007010 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010 GO_process GO:0007224 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007224 GO_process GO:0008360 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008360 GO_process GO:0060271 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060271 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: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_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 Gene3D 3.80.10.10 http://www.cathdb.info/version/latest/superfamily/3.80.10.10 GeneCards C21orf2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=C21orf2 GeneID 755 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=755 GeneTree ENSGT00390000018807 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018807 H-InvDB HIX0016167 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016167 H-InvDB HIX0016168 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0016168 HGNC HGNC:1260 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1260 HOGENOM HOG000006955 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000006955&db=HOGENOM6 HOVERGEN HBG051221 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051221&db=HOVERGEN HPA CAB034126 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB034126 HPA CAB034128 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB034128 HPA HPA030284 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA030284 InParanoid O43822 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43822 IntAct O43822 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43822* InterPro IPR001611 http://www.ebi.ac.uk/interpro/entry/IPR001611 InterPro IPR003603 http://www.ebi.ac.uk/interpro/entry/IPR003603 InterPro IPR032675 http://www.ebi.ac.uk/interpro/entry/IPR032675 Jabion 755 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=755 KEGG_Gene hsa:755 http://www.genome.jp/dbget-bin/www_bget?hsa:755 MIM 603191 http://www.ncbi.nlm.nih.gov/omim/603191 OMA WSVECGP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WSVECGP OrthoDB EOG091G0AX3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0AX3 PROSITE PS51450 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51450 PSORT swissprot:CU002_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CU002_HUMAN PSORT-B swissprot:CU002_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CU002_HUMAN PSORT2 swissprot:CU002_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CU002_HUMAN PharmGKB PA25816 http://www.pharmgkb.org/do/serve?objId=PA25816&objCls=Gene Phobius swissprot:CU002_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CU002_HUMAN PhylomeDB O43822 http://phylomedb.org/?seqid=O43822 ProteinModelPortal O43822 http://www.proteinmodelportal.org/query/uniprot/O43822 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 19369195 http://www.ncbi.nlm.nih.gov/pubmed/19369195 PubMed 21834987 http://www.ncbi.nlm.nih.gov/pubmed/21834987 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 26167768 http://www.ncbi.nlm.nih.gov/pubmed/26167768 PubMed 26974433 http://www.ncbi.nlm.nih.gov/pubmed/26974433 PubMed 9325172 http://www.ncbi.nlm.nih.gov/pubmed/9325172 PubMed 9465297 http://www.ncbi.nlm.nih.gov/pubmed/9465297 RefSeq NP_001258369 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258369 RefSeq NP_001258370 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258370 RefSeq NP_001258371 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258371 RefSeq NP_004919 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_004919 SMART SM00446 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00446 SMR O43822 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O43822 STRING 9606.ENSP00000344566 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000344566&targetmode=cogs SUPFAM SSF52058 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52058 UCSC uc002zep http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002zep&org=rat UniGene Hs.517331 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.517331 UniProtKB CU002_HUMAN http://www.uniprot.org/uniprot/CU002_HUMAN UniProtKB-AC O43822 http://www.uniprot.org/uniprot/O43822 charge swissprot:CU002_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CU002_HUMAN eggNOG ENOG410Y9AE http://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y9AE eggNOG KOG2123 http://eggnogapi.embl.de/nog_data/html/tree/KOG2123 epestfind swissprot:CU002_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CU002_HUMAN garnier swissprot:CU002_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CU002_HUMAN helixturnhelix swissprot:CU002_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CU002_HUMAN hmoment swissprot:CU002_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CU002_HUMAN iep swissprot:CU002_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CU002_HUMAN inforesidue swissprot:CU002_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CU002_HUMAN neXtProt NX_O43822 http://www.nextprot.org/db/entry/NX_O43822 octanol swissprot:CU002_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CU002_HUMAN pepcoil swissprot:CU002_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CU002_HUMAN pepdigest swissprot:CU002_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CU002_HUMAN pepinfo swissprot:CU002_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CU002_HUMAN pepnet swissprot:CU002_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CU002_HUMAN pepstats swissprot:CU002_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CU002_HUMAN pepwheel swissprot:CU002_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CU002_HUMAN pepwindow swissprot:CU002_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CU002_HUMAN sigcleave swissprot:CU002_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CU002_HUMAN ## Database ID URL or Descriptions # AltName GSX2_HUMAN Genetic-screened homeobox 2 # AltName GSX2_HUMAN Homeobox protein GSH-2 # Ensembl ENST00000326902 ENSP00000319118; ENSG00000180613 # Ensembl ENST00000611459 ENSP00000483522; ENSG00000180613 # ExpressionAtlas Q9BZM3 baseline and differential # FUNCTION GSX2_HUMAN During telencephalic development, causes ventralization of pallial progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity). Transcription factor that binds 5'-CNAATTAG-3' DNA sequence. {ECO 0000250|UniProtKB P31316}. # GO_component GO:0005634 nucleus; IEA:UniProtKB-SubCell. # GO_function GO:0043565 sequence-specific DNA binding; IEA:InterPro. # GO_process GO:0002087 regulation of respiratory gaseous exchange by neurological system process; IEA:Ensembl. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0006355 regulation of transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0021527 spinal cord association neuron differentiation; IEA:Ensembl. # GO_process GO:0021575 hindbrain morphogenesis; IEA:Ensembl. # GO_process GO:0021798 forebrain dorsal/ventral pattern formation; IEA:Ensembl. # GO_process GO:0021889 olfactory bulb interneuron differentiation; IEA:Ensembl. # GO_process GO:0021978 telencephalon regionalization; IEA:Ensembl. # GO_process GO:0030334 regulation of cell migration; IEA:Ensembl. # GO_process GO:0045747 positive regulation of Notch signaling pathway; IEA:Ensembl. # GO_process GO:0048665 neuron fate specification; IEA:Ensembl. # GO_process GO:0048714 positive regulation of oligodendrocyte differentiation; IEA:Ensembl. # GO_process GO:0048853 forebrain morphogenesis; IEA:Ensembl. # GO_process GO:0060163 subpallium neuron fate commitment; IEA:Ensembl. # GOslim_component GO:0005634 nucleus # GOslim_function GO:0003677 DNA binding # 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:0050877 neurological system process # Gene3D 1.10.10.60 -; 1. # Genevisible Q9BZM3 HS # HGNC HGNC:24959 GSX2 # InterPro IPR001356 Homeobox_dom # InterPro IPR009057 Homeodomain-like # InterPro IPR017970 Homeobox_CS # InterPro IPR020479 Homeobox_metazoa # KEGG_Brite ko03000 Transcription factors # MIM 616253 gene # Organism GSX2_HUMAN Homo sapiens (Human) # PRINTS PR00024 HOMEOBOX # PROSITE PS00027 HOMEOBOX_1 # PROSITE PS50071 HOMEOBOX_2 # Pfam PF00046 Homeobox # Proteomes UP000005640 Chromosome 4 # RecName GSX2_HUMAN GS homeobox 2 # RefSeq NP_573574 NM_133267.2 # SIMILARITY Belongs to the Antp homeobox family. {ECO 0000305}. # SIMILARITY Contains 1 homeobox DNA-binding domain. {ECO:0000255|PROSITE-ProRule PRU00108}. # SMART SM00389 HOX # SUBCELLULAR LOCATION GSX2_HUMAN Nucleus {ECO 0000255|PROSITE- ProRule PRU00108}. # SUPFAM SSF46689 SSF46689 # UCSC uc010igp human # eggNOG ENOG410ZTBY LUCA # eggNOG KOG0489 Eukaryota BLAST swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GSX2_HUMAN COXPRESdb 170825 http://coxpresdb.jp/data/gene/170825.shtml CleanEx HS_GSX2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GSX2 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 AB028838 http://www.ebi.ac.uk/ena/data/view/AB028838 EMBL AC110298 http://www.ebi.ac.uk/ena/data/view/AC110298 EMBL AF306343 http://www.ebi.ac.uk/ena/data/view/AF306343 EMBL AF306344 http://www.ebi.ac.uk/ena/data/view/AF306344 EMBL AF439445 http://www.ebi.ac.uk/ena/data/view/AF439445 EMBL BC075089 http://www.ebi.ac.uk/ena/data/view/BC075089 EMBL BC075090 http://www.ebi.ac.uk/ena/data/view/BC075090 Ensembl ENST00000326902 http://www.ensembl.org/id/ENST00000326902 Ensembl ENST00000611459 http://www.ensembl.org/id/ENST00000611459 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_function GO:0043565 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043565 GO_process GO:0002087 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002087 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:0021527 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021527 GO_process GO:0021575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021575 GO_process GO:0021798 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021798 GO_process GO:0021889 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021889 GO_process GO:0021978 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021978 GO_process GO:0030334 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030334 GO_process GO:0045747 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045747 GO_process GO:0048665 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048665 GO_process GO:0048714 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048714 GO_process GO:0048853 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048853 GO_process GO:0060163 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060163 GOslim_component GO:0005634 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634 GOslim_function GO:0003677 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677 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:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 Gene3D 1.10.10.60 http://www.cathdb.info/version/latest/superfamily/1.10.10.60 GeneCards GSX2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GSX2 GeneID 170825 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=170825 GeneTree ENSGT00760000118940 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118940 HGNC HGNC:24959 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:24959 HOGENOM HOG000010106 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000010106&db=HOGENOM6 HOVERGEN HBG003555 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG003555&db=HOVERGEN InParanoid Q9BZM3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9BZM3 IntAct Q9BZM3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9BZM3* InterPro IPR001356 http://www.ebi.ac.uk/interpro/entry/IPR001356 InterPro IPR009057 http://www.ebi.ac.uk/interpro/entry/IPR009057 InterPro IPR017970 http://www.ebi.ac.uk/interpro/entry/IPR017970 InterPro IPR020479 http://www.ebi.ac.uk/interpro/entry/IPR020479 Jabion 170825 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=170825 KEGG_Brite ko03000 http://www.genome.jp/dbget-bin/www_bget?ko03000 KEGG_Gene hsa:170825 http://www.genome.jp/dbget-bin/www_bget?hsa:170825 KEGG_Orthology KO:K09310 http://www.genome.jp/dbget-bin/www_bget?KO:K09310 MIM 616253 http://www.ncbi.nlm.nih.gov/omim/616253 OMA AFCVCPL http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AFCVCPL OrthoDB EOG091G0HAO http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HAO PRINTS PR00024 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00024 PROSITE PS00027 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00027 PROSITE PS50071 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50071 PSORT swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GSX2_HUMAN PSORT-B swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GSX2_HUMAN PSORT2 swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GSX2_HUMAN Pfam PF00046 http://pfam.xfam.org/family/PF00046 PharmGKB PA162390374 http://www.pharmgkb.org/do/serve?objId=PA162390374&objCls=Gene Phobius swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GSX2_HUMAN PhylomeDB Q9BZM3 http://phylomedb.org/?seqid=Q9BZM3 ProteinModelPortal Q9BZM3 http://www.proteinmodelportal.org/query/uniprot/Q9BZM3 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15815621 http://www.ncbi.nlm.nih.gov/pubmed/15815621 RefSeq NP_573574 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_573574 SMART SM00389 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00389 SMR Q9BZM3 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9BZM3 STRING 9606.ENSP00000319118 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000319118&targetmode=cogs SUPFAM SSF46689 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF46689 UCSC uc010igp http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010igp&org=rat UniGene Hs.371899 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.371899 UniProtKB GSX2_HUMAN http://www.uniprot.org/uniprot/GSX2_HUMAN UniProtKB-AC Q9BZM3 http://www.uniprot.org/uniprot/Q9BZM3 charge swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GSX2_HUMAN eggNOG ENOG410ZTBY http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZTBY eggNOG KOG0489 http://eggnogapi.embl.de/nog_data/html/tree/KOG0489 epestfind swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GSX2_HUMAN garnier swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GSX2_HUMAN helixturnhelix swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GSX2_HUMAN hmoment swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GSX2_HUMAN iep swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GSX2_HUMAN inforesidue swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GSX2_HUMAN neXtProt NX_Q9BZM3 http://www.nextprot.org/db/entry/NX_Q9BZM3 octanol swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GSX2_HUMAN pepcoil swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GSX2_HUMAN pepdigest swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GSX2_HUMAN pepinfo swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GSX2_HUMAN pepnet swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GSX2_HUMAN pepstats swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GSX2_HUMAN pepwheel swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GSX2_HUMAN pepwindow swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GSX2_HUMAN sigcleave swissprot:GSX2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GSX2_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CD177_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N6Q3-1; Sequence=Displayed; Name=2; IsoId=Q8N6Q3-2; Sequence=VSP_017860, VSP_017861; Note=Associated with CD177-negative phenotype.; Name=3; IsoId=Q8N6Q3-3; Sequence=VSP_017858, VSP_017859; Note=Associated with CD177-negative phenotype.; # AltName CD177_HUMAN CD177 # AltName CD177_HUMAN Human neutrophil alloantigen 2a # AltName CD177_HUMAN NB1 glycoprotein # AltName CD177_HUMAN Polycythemia rubra vera protein 1 # BioGrid 121389 3 # CCDS CCDS62700 -. [Q8N6Q3-1] # Ensembl ENST00000378012 ENSP00000367251; ENSG00000204936. [Q8N6Q3-3] # ExpressionAtlas Q8N6Q3 baseline and differential # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0031225 anchored component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_process GO:0007596 blood coagulation; TAS:Reactome. # GO_process GO:0050900 leukocyte migration; TAS:Reactome. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005886 plasma membrane # GOslim_component GO:0043226 organelle # GOslim_process GO:0002376 immune system process # GOslim_process GO:0008150 biological_process # GOslim_process GO:0048870 cell motility # Genevisible Q8N6Q3 HS # HGNC HGNC:30072 CD177 # INDUCTION CD177_HUMAN By CSF3 in resting granulocytes. Induced in patients with polycythemia vera (PV) and with essential thrombocythemia (ET). {ECO 0000269|PubMed 10753836, ECO 0000269|PubMed 12377969}. # INTERACTION CD177_HUMAN Q9Y2W7 KCNIP3; NbExp=6; IntAct=EBI-747170, EBI-751501; # IntAct Q8N6Q3 2 # InterPro IPR016054 LY6_UPA_recep-like # KEGG_Brite ko04090 Cellular antigens # KEGG_Brite ko04516 Cell adhesion molecules and their ligands # MASS SPECTROMETRY Mass=50556; Method=MALDI; Range=22-408; Evidence={ECO:0000269|PubMed 11465086}; # MIM 162860 gene # Organism CD177_HUMAN Homo sapiens (Human) # POLYMORPHISM There is a significant association between the variants Ala-3, Leu-251 and Thr-348 and a low expression of CD177 on neutrophils. {ECO:0000269|PubMed 12623849}. # PTM CD177_HUMAN A soluble form may also be produced by proteolytic cleavage at the cell surface (shedding). # PTM CD177_HUMAN N-glycosylated. {ECO 0000269|PubMed 11465086, ECO 0000269|PubMed 12239154}. # Pfam PF00021 UPAR_LY6; 2 # Proteomes UP000005640 Chromosome 19 # Reactome R-HSA-140875 Common Pathway of Fibrin Clot Formation # Reactome R-HSA-202733 Cell surface interactions at the vascular wall # Reactome R-HSA-6798695 Neutrophil degranulation # RecName CD177_HUMAN CD177 antigen # RefSeq NP_065139 NM_020406.3 # SIMILARITY Contains 2 UPAR/Ly6 domains. {ECO 0000305}. # SUBCELLULAR LOCATION CD177_HUMAN Cell membrane {ECO 0000269|PubMed 12239154}; Lipid-anchor, GPI-anchor {ECO 0000269|PubMed 12239154}. # TISSUE SPECIFICITY CD177_HUMAN Highly expressed in normal bone marrow and weakly expressed in fetal liver. Expressed on neutrophils. Expressed in granulocytes of patients with polycythemia vera (PV) and with essential thrombocythemia (ET). {ECO 0000269|PubMed 10753836, ECO 0000269|PubMed 12377969}. # UCSC uc060zla human. [Q8N6Q3-1] # eggNOG ENOG410J207 Eukaryota # eggNOG ENOG4111D7X LUCA BLAST swissprot:CD177_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CD177_HUMAN BioCyc ZFISH:G66-30767-MONOMER http://biocyc.org/getid?id=ZFISH:G66-30767-MONOMER COXPRESdb 57126 http://coxpresdb.jp/data/gene/57126.shtml CleanEx HS_CD177 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CD177 DOI 10.1002/1521-4141(200105)31:5<1301::AID-IMMU1301>3.0.CO http://dx.doi.org/10.1002/1521-4141(200105)31:5<1301::AID-IMMU1301>3.0.CO DOI 10.1046/j.0041-1132.2004.00606.x http://dx.doi.org/10.1046/j.0041-1132.2004.00606.x 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 10.1182/blood-2002-03-0949 http://dx.doi.org/10.1182/blood-2002-03-0949 DOI 10.1182/blood-2002-09-2831 http://dx.doi.org/10.1182/blood-2002-09-2831 DOI 10.1182/blood.V99.11.4231 http://dx.doi.org/10.1182/blood.V99.11.4231 DOI 10.1200/JCO.2002.11.507 http://dx.doi.org/10.1200/JCO.2002.11.507 EMBL AF146747 http://www.ebi.ac.uk/ena/data/view/AF146747 EMBL AJ290452 http://www.ebi.ac.uk/ena/data/view/AJ290452 EMBL AJ305326 http://www.ebi.ac.uk/ena/data/view/AJ305326 EMBL AJ310433 http://www.ebi.ac.uk/ena/data/view/AJ310433 EMBL AY358932 http://www.ebi.ac.uk/ena/data/view/AY358932 EMBL BC029167 http://www.ebi.ac.uk/ena/data/view/BC029167 EMBL BT020111 http://www.ebi.ac.uk/ena/data/view/BT020111 Ensembl ENST00000378012 http://www.ensembl.org/id/ENST00000378012 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0031225 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031225 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_process GO:0007596 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007596 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_component GO:0043226 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226 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:0048870 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870 GeneCards CD177 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CD177 GeneID 57126 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57126 GeneTree ENSGT00530000063351 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063351 H-InvDB HIX0017865 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0017865 HGNC HGNC:30072 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:30072 HOVERGEN HBG081064 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081064&db=HOVERGEN InParanoid Q8N6Q3 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8N6Q3 IntAct Q8N6Q3 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8N6Q3* InterPro IPR016054 http://www.ebi.ac.uk/interpro/entry/IPR016054 Jabion 57126 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=57126 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:57126 http://www.genome.jp/dbget-bin/www_bget?hsa:57126 KEGG_Orthology KO:K06552 http://www.genome.jp/dbget-bin/www_bget?KO:K06552 MIM 162860 http://www.ncbi.nlm.nih.gov/omim/162860 MINT MINT-1453771 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1453771 PSORT swissprot:CD177_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CD177_HUMAN PSORT-B swissprot:CD177_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CD177_HUMAN PSORT2 swissprot:CD177_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CD177_HUMAN Pfam PF00021 http://pfam.xfam.org/family/PF00021 PharmGKB PA142672147 http://www.pharmgkb.org/do/serve?objId=PA142672147&objCls=Gene Phobius swissprot:CD177_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CD177_HUMAN PhylomeDB Q8N6Q3 http://phylomedb.org/?seqid=Q8N6Q3 ProteinModelPortal Q8N6Q3 http://www.proteinmodelportal.org/query/uniprot/Q8N6Q3 PubMed 10753836 http://www.ncbi.nlm.nih.gov/pubmed/10753836 PubMed 11465086 http://www.ncbi.nlm.nih.gov/pubmed/11465086 PubMed 12010833 http://www.ncbi.nlm.nih.gov/pubmed/12010833 PubMed 12239154 http://www.ncbi.nlm.nih.gov/pubmed/12239154 PubMed 12377969 http://www.ncbi.nlm.nih.gov/pubmed/12377969 PubMed 12623849 http://www.ncbi.nlm.nih.gov/pubmed/12623849 PubMed 12975309 http://www.ncbi.nlm.nih.gov/pubmed/12975309 PubMed 14692971 http://www.ncbi.nlm.nih.gov/pubmed/14692971 PubMed 15340161 http://www.ncbi.nlm.nih.gov/pubmed/15340161 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-140875 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-140875 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_065139 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065139 STRING 9606.ENSP00000367248 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367248&targetmode=cogs UCSC uc060zla http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc060zla&org=rat UniGene Hs.232165 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.232165 UniProtKB CD177_HUMAN http://www.uniprot.org/uniprot/CD177_HUMAN UniProtKB-AC Q8N6Q3 http://www.uniprot.org/uniprot/Q8N6Q3 charge swissprot:CD177_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CD177_HUMAN eggNOG ENOG410J207 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J207 eggNOG ENOG4111D7X http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111D7X epestfind swissprot:CD177_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CD177_HUMAN garnier swissprot:CD177_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CD177_HUMAN helixturnhelix swissprot:CD177_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CD177_HUMAN hmoment swissprot:CD177_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CD177_HUMAN iep swissprot:CD177_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CD177_HUMAN inforesidue swissprot:CD177_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CD177_HUMAN neXtProt NX_Q8N6Q3 http://www.nextprot.org/db/entry/NX_Q8N6Q3 octanol swissprot:CD177_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CD177_HUMAN pepcoil swissprot:CD177_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CD177_HUMAN pepdigest swissprot:CD177_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CD177_HUMAN pepinfo swissprot:CD177_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CD177_HUMAN pepnet swissprot:CD177_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CD177_HUMAN pepstats swissprot:CD177_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CD177_HUMAN pepwheel swissprot:CD177_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CD177_HUMAN pepwindow swissprot:CD177_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CD177_HUMAN sigcleave swissprot:CD177_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CD177_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS CCD50_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Short; IsoId=Q8IVM0-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=Long; IsoId=Q8IVM0-2; Sequence=VSP_014985; # AltName CCD50_HUMAN Protein Ymer # BioGrid 127431 12 # CCDS CCDS33912 -. [Q8IVM0-2] # CCDS CCDS33913 -. [Q8IVM0-1] # ChiTaRS CCDC50 human # DISEASE CCD50_HUMAN Deafness, autosomal dominant, 44 (DFNA44) [MIM 607453] A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. {ECO 0000269|PubMed 17503326}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000392455 ENSP00000376249; ENSG00000152492. [Q8IVM0-1] # Ensembl ENST00000392456 ENSP00000376250; ENSG00000152492. [Q8IVM0-2] # FUNCTION CCD50_HUMAN Involved in EGFR signaling. {ECO 0000269|PubMed 15314609}. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005874 microtubule; IEA:Ensembl. # GO_function GO:0031625 ubiquitin protein ligase binding; IPI:UniProtKB. # GO_process GO:0007605 sensory perception of sound; IMP:MGI. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005737 cytoplasm # GOslim_function GO:0019899 enzyme binding # GOslim_process GO:0050877 neurological system process # Genevisible Q8IVM0 HS # HGNC HGNC:18111 CCDC50 # INTERACTION CCD50_HUMAN Q6GQQ9 OTUD7B; NbExp=5; IntAct=EBI-723996, EBI-527784; Q13546 RIPK1; NbExp=2; IntAct=EBI-723996, EBI-358507; P0CG47 UBB; NbExp=2; IntAct=EBI-723996, EBI-413034; # IntAct Q8IVM0 9 # InterPro IPR029311 CCDC50_N # KEGG_Disease H00604 [Nervous system disease; Nervous system disease] Deafness, autosomal dominant # MIM 607453 phenotype # MIM 611051 gene # MISCELLANEOUS CCD50_HUMAN Found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus. No causative CCDC50 mutations were found in HSP families. # Organism CCD50_HUMAN Homo sapiens (Human) # Orphanet 90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA # PTM CCD50_HUMAN Phosphorylated on tyrosine residues. {ECO 0000269|PubMed 15314609}. # Pfam PF15295 CCDC50_N # Proteomes UP000005640 Chromosome 3 # RecName CCD50_HUMAN Coiled-coil domain-containing protein 50 # RefSeq NP_777568 NM_174908.3. [Q8IVM0-1] # RefSeq NP_848018 NM_178335.2. [Q8IVM0-2] # SUBCELLULAR LOCATION CCD50_HUMAN Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus. {ECO 0000250}. # SUBUNIT Interacts with RNF126. {ECO:0000269|PubMed 23418353}. # TISSUE SPECIFICITY Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart. {ECO:0000269|PubMed 14527723}. # UCSC uc003fsv human. [Q8IVM0-1] BLAST swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CCD50_HUMAN COXPRESdb 152137 http://coxpresdb.jp/data/gene/152137.shtml CleanEx HS_CCDC50 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CCDC50 DOI 10.1016/S0378-1119(03)00710-8 http://dx.doi.org/10.1016/S0378-1119(03)00710-8 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/nbt1005 http://dx.doi.org/10.1038/nbt1005 DOI 10.1073/pnas.1210303109 http://dx.doi.org/10.1073/pnas.1210303109 DOI 10.1086/518311 http://dx.doi.org/10.1086/518311 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 10.1242/jcs.116129 http://dx.doi.org/10.1242/jcs.116129 EMBL AJ416916 http://www.ebi.ac.uk/ena/data/view/AJ416916 EMBL AJ557013 http://www.ebi.ac.uk/ena/data/view/AJ557013 EMBL BC065004 http://www.ebi.ac.uk/ena/data/view/BC065004 Ensembl ENST00000392455 http://www.ensembl.org/id/ENST00000392455 Ensembl ENST00000392456 http://www.ensembl.org/id/ENST00000392456 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:0005874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005874 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_process GO:0007605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007605 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:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_process GO:0050877 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877 GeneCards CCDC50 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CCDC50 GeneID 152137 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=152137 GeneTree ENSGT00390000011058 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011058 HGNC HGNC:18111 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18111 HOGENOM HOG000290669 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000290669&db=HOGENOM6 HOVERGEN HBG059995 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG059995&db=HOVERGEN HPA HPA001336 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001336 InParanoid Q8IVM0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IVM0 IntAct Q8IVM0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IVM0* InterPro IPR029311 http://www.ebi.ac.uk/interpro/entry/IPR029311 Jabion 152137 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=152137 KEGG_Disease H00604 http://www.genome.jp/dbget-bin/www_bget?H00604 KEGG_Gene hsa:152137 http://www.genome.jp/dbget-bin/www_bget?hsa:152137 MIM 607453 http://www.ncbi.nlm.nih.gov/omim/607453 MIM 611051 http://www.ncbi.nlm.nih.gov/omim/611051 MINT MINT-1392868 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1392868 OMA DTGMKPR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DTGMKPR Orphanet 90635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90635 OrthoDB EOG091G0GP5 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GP5 PSORT swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CCD50_HUMAN PSORT-B swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CCD50_HUMAN PSORT2 swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CCD50_HUMAN Pfam PF15295 http://pfam.xfam.org/family/PF15295 PharmGKB PA25902 http://www.pharmgkb.org/do/serve?objId=PA25902&objCls=Gene Phobius swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CCD50_HUMAN PhylomeDB Q8IVM0 http://phylomedb.org/?seqid=Q8IVM0 ProteinModelPortal Q8IVM0 http://www.proteinmodelportal.org/query/uniprot/Q8IVM0 PubMed 14527723 http://www.ncbi.nlm.nih.gov/pubmed/14527723 PubMed 15314609 http://www.ncbi.nlm.nih.gov/pubmed/15314609 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17081983 http://www.ncbi.nlm.nih.gov/pubmed/17081983 PubMed 17503326 http://www.ncbi.nlm.nih.gov/pubmed/17503326 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 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23418353 http://www.ncbi.nlm.nih.gov/pubmed/23418353 RefSeq NP_777568 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_777568 RefSeq NP_848018 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_848018 UCSC uc003fsv http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fsv&org=rat UniGene Hs.478682 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.478682 UniProtKB CCD50_HUMAN http://www.uniprot.org/uniprot/CCD50_HUMAN UniProtKB-AC Q8IVM0 http://www.uniprot.org/uniprot/Q8IVM0 charge swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CCD50_HUMAN epestfind swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CCD50_HUMAN garnier swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CCD50_HUMAN helixturnhelix swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CCD50_HUMAN hmoment swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CCD50_HUMAN iep swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CCD50_HUMAN inforesidue swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CCD50_HUMAN neXtProt NX_Q8IVM0 http://www.nextprot.org/db/entry/NX_Q8IVM0 octanol swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CCD50_HUMAN pepcoil swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CCD50_HUMAN pepdigest swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CCD50_HUMAN pepinfo swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CCD50_HUMAN pepnet swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CCD50_HUMAN pepstats swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CCD50_HUMAN pepwheel swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CCD50_HUMAN pepwindow swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CCD50_HUMAN sigcleave swissprot:CCD50_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CCD50_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS KR107_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P60409-1; Sequence=Displayed; Name=2; IsoId=P60409-2; Sequence=VSP_021023; # AltName KR107_HUMAN High sulfur keratin-associated protein 10.7 # AltName KR107_HUMAN Keratin-associated protein 10.7 # AltName KR107_HUMAN Keratin-associated protein 18-7 # AltName KR107_HUMAN Keratin-associated protein 18.7 # BioGrid 132126 217 # CCDS CCDS74803 -. [P60409-2] # Ensembl ENST00000609664 ENSP00000476821; ENSG00000272804 # ExpressionAtlas P60409 baseline # FUNCTION KR107_HUMAN In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins. # GO_component GO:0045095 keratin filament; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # HGNC HGNC:22970 KRTAP10-7 # INTERACTION KR107_HUMAN Self; NbExp=3; IntAct=EBI-10172290, EBI-10172290; B0FTY2 -; NbExp=3; IntAct=EBI-10172290, EBI-10175366; Q53FW8 -; NbExp=3; IntAct=EBI-10172290, EBI-10242473; Q5BKY6 -; NbExp=3; IntAct=EBI-10172290, EBI-10243533; Q5XG85 -; NbExp=3; IntAct=EBI-10172290, EBI-10248413; Q9H6F0 -; NbExp=3; IntAct=EBI-10172290, EBI-10307481; Q8WTP8 AEN; NbExp=3; IntAct=EBI-10172290, EBI-8637627; Q08117 AES; NbExp=3; IntAct=EBI-10172290, EBI-717810; P43353 ALDH3B1; NbExp=3; IntAct=EBI-10172290, EBI-2558314; Q96IX9 ANKRD36BP1; NbExp=3; IntAct=EBI-10172290, EBI-744859; Q9BXS5 AP1M1; NbExp=3; IntAct=EBI-10172290, EBI-541426; P29972 AQP1; NbExp=3; IntAct=EBI-10172290, EBI-745213; Q5T686 AVPI1; NbExp=3; IntAct=EBI-10172290, EBI-8640233; Q9UBV7 B4GALT7; NbExp=3; IntAct=EBI-10172290, EBI-10319970; Q8TBE0 BAHD1; NbExp=3; IntAct=EBI-10172290, EBI-742750; A8KA13 BCL6B; NbExp=4; IntAct=EBI-10172290, EBI-10174813; A8K571 BMP7; NbExp=3; IntAct=EBI-10172290, EBI-10174327; P41223 BUD31; NbExp=3; IntAct=EBI-10172290, EBI-3904603; Q13895 BYSL; NbExp=5; IntAct=EBI-10172290, EBI-358049; Q7L2K0 C16orf59; NbExp=3; IntAct=EBI-10172290, EBI-8465456; Q0VDD7 C19orf57; NbExp=3; IntAct=EBI-10172290, EBI-741210; Q9H7E9 C8orf33; NbExp=3; IntAct=EBI-10172290, EBI-715389; Q9Y2V2 CARHSP1; NbExp=3; IntAct=EBI-10172290, EBI-718719; Q7Z7H3 CATIP; NbExp=3; IntAct=EBI-10172290, EBI-10258233; Q14781 CBX2; NbExp=3; IntAct=EBI-10172290, EBI-745934; Q8N715 CCDC185; NbExp=3; IntAct=EBI-10172290, EBI-740814; Q8TAB7 CCDC26; NbExp=3; IntAct=EBI-10172290, EBI-10271580; P51959 CCNG1; NbExp=3; IntAct=EBI-10172290, EBI-3905829; Q96GN5 CDCA7L; NbExp=3; IntAct=EBI-10172290, EBI-5278764; Q9UKJ5 CHIC2; NbExp=3; IntAct=EBI-10172290, EBI-741528; Q9H2X0 CHRD; NbExp=3; IntAct=EBI-10172290, EBI-947551; P07510 CHRNG; NbExp=3; IntAct=EBI-10172290, EBI-9008836; P49759 CLK1; NbExp=3; IntAct=EBI-10172290, EBI-473775; Q9HAZ1 CLK4; NbExp=3; IntAct=EBI-10172290, EBI-633400; P27658 COL8A1; NbExp=3; IntAct=EBI-10172290, EBI-747133; Q9UGL9 CRCT1; NbExp=3; IntAct=EBI-10172290, EBI-713677; Q02930-3 CREB5; NbExp=4; IntAct=EBI-10172290, EBI-10192698; Q9HCP0 CSNK1G1; NbExp=3; IntAct=EBI-10172290, EBI-1383814; P78368 CSNK1G2; NbExp=3; IntAct=EBI-10172290, EBI-748380; Q9NSA3 CTNNBIP1; NbExp=3; IntAct=EBI-10172290, EBI-747082; Q99895 CTRC; NbExp=3; IntAct=EBI-10172290, EBI-10295404; Q9GZP9 DERL2; NbExp=3; IntAct=EBI-10172290, EBI-7962814; Q6P158 DHX57; NbExp=3; IntAct=EBI-10172290, EBI-1051531; Q9NQL9 DMRT3; NbExp=3; IntAct=EBI-10172290, EBI-9679045; O75461 E2F6; NbExp=3; IntAct=EBI-10172290, EBI-749694; H3BUJ7 E4F1; NbExp=3; IntAct=EBI-10172290, EBI-10178160; Q08426 EHHADH; NbExp=3; IntAct=EBI-10172290, EBI-2339219; Q9H5Z6 FAM124B; NbExp=3; IntAct=EBI-10172290, EBI-741626; Q3B820 FAM161A; NbExp=3; IntAct=EBI-10172290, EBI-719941; Q08E93 FAM27E3; NbExp=3; IntAct=EBI-10172290, EBI-2602739; Q5TZK3 FAM74A6; NbExp=3; IntAct=EBI-10172290, EBI-10247271; Q5HYJ3 FAM76B; NbExp=3; IntAct=EBI-10172290, EBI-751192; O95363 FARS2; NbExp=3; IntAct=EBI-10172290, EBI-2513774; Q9H0R8 GABARAPL1; NbExp=3; IntAct=EBI-10172290, EBI-746969; P60520 GABARAPL2; NbExp=3; IntAct=EBI-10172290, EBI-720116; P55040 GEM; NbExp=3; IntAct=EBI-10172290, EBI-744104; P43220 GLP1R; NbExp=3; IntAct=EBI-10172290, EBI-7466542; Q9Y223 GNE; NbExp=3; IntAct=EBI-10172290, EBI-4291090; Q0D2H9 GOLGA8DP; NbExp=3; IntAct=EBI-10172290, EBI-10181276; P28799 GRN; NbExp=3; IntAct=EBI-10172290, EBI-747754; P09211 GSTP1; NbExp=3; IntAct=EBI-10172290, EBI-353467; Q96NT3 GUCD1; NbExp=3; IntAct=EBI-10172290, EBI-8293751; P02008 HBZ; NbExp=3; IntAct=EBI-10172290, EBI-719843; Q03014 HHEX; NbExp=3; IntAct=EBI-10172290, EBI-747421; P37235 HPCAL1; NbExp=3; IntAct=EBI-10172290, EBI-749311; O75506 HSBP1; NbExp=3; IntAct=EBI-10172290, EBI-748664; Q9H2F3 HSD3B7; NbExp=3; IntAct=EBI-10172290, EBI-3918847; Q969P0 IGSF8; NbExp=3; IntAct=EBI-10172290, EBI-8293590; Q8WYH8 ING5; NbExp=3; IntAct=EBI-10172290, EBI-488533; Q92835 INPP5D; NbExp=3; IntAct=EBI-10172290, EBI-1380477; Q8NA54 IQUB; NbExp=3; IntAct=EBI-10172290, EBI-10220600; Q2WGJ6 KLHL38; NbExp=3; IntAct=EBI-10172290, EBI-6426443; P35900 KRT20; NbExp=3; IntAct=EBI-10172290, EBI-742094; P78385 KRT83; NbExp=3; IntAct=EBI-10172290, EBI-10221390; P60370 KRTAP10-5; NbExp=3; IntAct=EBI-10172290, EBI-10172150; P60410 KRTAP10-8; NbExp=3; IntAct=EBI-10172290, EBI-10171774; P60411 KRTAP10-9; NbExp=3; IntAct=EBI-10172290, EBI-10172052; P59990 KRTAP12-1; NbExp=3; IntAct=EBI-10172290, EBI-10210845; Q9BYR5 KRTAP4-2; NbExp=3; IntAct=EBI-10172290, EBI-10172511; Q6L8G9 KRTAP5-6; NbExp=3; IntAct=EBI-10172290, EBI-10250562; P26371 KRTAP5-9; NbExp=5; IntAct=EBI-10172290, EBI-3958099; Q9BYQ4 KRTAP9-2; NbExp=3; IntAct=EBI-10172290, EBI-1044640; Q5T7P3 LCE1B; NbExp=3; IntAct=EBI-10172290, EBI-10245913; Q5TA79 LCE2A; NbExp=3; IntAct=EBI-10172290, EBI-10246607; Q5T5B0 LCE3E; NbExp=3; IntAct=EBI-10172290, EBI-10245456; Q5TA78 LCE4A; NbExp=3; IntAct=EBI-10172290, EBI-10246358; Q7Z4I7-5 LIMS2; NbExp=3; IntAct=EBI-10172290, EBI-10257651; Q5T6M2 LINC00242; NbExp=3; IntAct=EBI-10172290, EBI-10245897; P02545 LMNA; NbExp=3; IntAct=EBI-10172290, EBI-351935; P25791 LMO2; NbExp=3; IntAct=EBI-10172290, EBI-739696; O75427 LRCH4; NbExp=3; IntAct=EBI-10172290, EBI-718707; O60336 MAPKBP1; NbExp=3; IntAct=EBI-10172290, EBI-947402; B1AHB0 MCM5; NbExp=3; IntAct=EBI-10172290, EBI-10175425; Q13875 MOBP; NbExp=3; IntAct=EBI-10172290, EBI-10230628; Q9NV56 MRGBP; NbExp=3; IntAct=EBI-10172290, EBI-399076; Q9BW11 MXD3; NbExp=3; IntAct=EBI-10172290, EBI-741574; P50539-3 MXI1; NbExp=3; IntAct=EBI-10172290, EBI-10211940; P41227 NAA10; NbExp=3; IntAct=EBI-10172290, EBI-747693; Q8IW45 NAXD; NbExp=3; IntAct=EBI-10172290, EBI-8650724; Q92692 NECTIN2; NbExp=3; IntAct=EBI-10172290, EBI-718419; Q9NQS3 NECTIN3; NbExp=3; IntAct=EBI-10172290, EBI-2826725; Q9UGY1 NOL12; NbExp=3; IntAct=EBI-10172290, EBI-716098; Q7Z3S9 NOTCH2NL; NbExp=3; IntAct=EBI-10172290, EBI-945833; P48146 NPBWR2; NbExp=3; IntAct=EBI-10172290, EBI-10210114; Q9NQX5 NPDC1; NbExp=3; IntAct=EBI-10172290, EBI-748927; Q9Y5Y2 NUBP2; NbExp=3; IntAct=EBI-10172290, EBI-1048886; A1L3A7 NUFIP2; NbExp=3; IntAct=EBI-10172290, EBI-10172018; Q15077 P2RY6; NbExp=3; IntAct=EBI-10172290, EBI-10235794; Q9H1Q7 PCED1A; NbExp=3; IntAct=EBI-10172290, EBI-748452; Q92824 PCSK5; NbExp=3; IntAct=EBI-10172290, EBI-751290; Q14554 PDIA5; NbExp=3; IntAct=EBI-10172290, EBI-953879; Q96HC4 PDLIM5; NbExp=3; IntAct=EBI-10172290, EBI-751267; P17858 PFKL; NbExp=3; IntAct=EBI-10172290, EBI-487243; Q13526 PIN1; NbExp=3; IntAct=EBI-10172290, EBI-714158; Q9UGP5-2 POLL; NbExp=3; IntAct=EBI-10172290, EBI-10320765; Q03181-2 PPARD; NbExp=3; IntAct=EBI-10172290, EBI-10223258; O43741 PRKAB2; NbExp=3; IntAct=EBI-10172290, EBI-1053424; Q1LZN1 PRM2; NbExp=3; IntAct=EBI-10172290, EBI-10239098; Q9NZ81 PRR13; NbExp=3; IntAct=EBI-10172290, EBI-740924; P41222 PTGDS; NbExp=3; IntAct=EBI-10172290, EBI-948821; Q147X8 PTGER3; NbExp=3; IntAct=EBI-10172290, EBI-10234038; Q8WUK0 PTPMT1; NbExp=3; IntAct=EBI-10172290, EBI-7199479; P15151 PVR; NbExp=3; IntAct=EBI-10172290, EBI-3919694; Q8N4F7 RNF175; NbExp=3; IntAct=EBI-10172290, EBI-10265447; Q9H9Y2 RPF1; NbExp=3; IntAct=EBI-10172290, EBI-9996007; P62913 RPL11; NbExp=3; IntAct=EBI-10172290, EBI-354380; Q969Q0 RPL36AL; NbExp=3; IntAct=EBI-10172290, EBI-2877705; P62857 RPS28; NbExp=3; IntAct=EBI-10172290, EBI-353027; Q6P087 RPUSD3; NbExp=3; IntAct=EBI-10172290, EBI-5458784; Q6UXX9 RSPO2; NbExp=3; IntAct=EBI-10172290, EBI-8481036; Q86UN2 RTN4RL1; NbExp=3; IntAct=EBI-10172290, EBI-10258951; P57060 RWDD2B; NbExp=3; IntAct=EBI-10172290, EBI-724442; Q9NUL5 RYDEN; NbExp=3; IntAct=EBI-10172290, EBI-10313866; Q9BWG6 SCNM1; NbExp=3; IntAct=EBI-10172290, EBI-748391; O00560 SDCBP; NbExp=3; IntAct=EBI-10172290, EBI-727004; Q9UHI7 SLC23A1; NbExp=3; IntAct=EBI-10172290, EBI-1759386; Q6ZT89 SLC25A48; NbExp=3; IntAct=EBI-10172290, EBI-10255185; Q9NP91 SLC6A20; NbExp=3; IntAct=EBI-10172290, EBI-10311198; Q9NRQ5 SMCO4; NbExp=3; IntAct=EBI-10172290, EBI-8640191; P49901 SMCP; NbExp=3; IntAct=EBI-10172290, EBI-750494; Q96E40 SPACA9; NbExp=3; IntAct=EBI-10172290, EBI-722584; Q6RVD6 SPATA8; NbExp=3; IntAct=EBI-10172290, EBI-8635958; Q9UQ90 SPG7; NbExp=3; IntAct=EBI-10172290, EBI-717201; O43609 SPRY1; NbExp=3; IntAct=EBI-10172290, EBI-3866665; Q9Y2D8 SSX2IP; NbExp=3; IntAct=EBI-10172290, EBI-2212028; O75716 STK16; NbExp=3; IntAct=EBI-10172290, EBI-749295; O43463 SUV39H1; NbExp=3; IntAct=EBI-10172290, EBI-349968; Q15560 TCEA2; NbExp=3; IntAct=EBI-10172290, EBI-710310; Q8N8B7 TCEANC; NbExp=3; IntAct=EBI-10172290, EBI-954696; Q9NVV9 THAP1; NbExp=3; IntAct=EBI-10172290, EBI-741515; Q8TBB0 THAP6; NbExp=3; IntAct=EBI-10172290, EBI-3925505; Q96EY4 TMA16; NbExp=3; IntAct=EBI-10172290, EBI-1045338; Q9HCN3 TMEM8A; NbExp=3; IntAct=EBI-10172290, EBI-10310808; Q4VB56 TNP2; NbExp=3; IntAct=EBI-10172290, EBI-10241829; Q63HR2 TNS2; NbExp=3; IntAct=EBI-10172290, EBI-949753; O14656 TOR1A; NbExp=3; IntAct=EBI-10172290, EBI-524257; Q9NSU2 TREX1; NbExp=3; IntAct=EBI-10172290, EBI-10313481; A1L4B6 TRIM42; NbExp=3; IntAct=EBI-10172290, EBI-10172216; O75386 TULP3; NbExp=3; IntAct=EBI-10172290, EBI-5357290; Q86UY0 TXNDC5; NbExp=3; IntAct=EBI-10172290, EBI-2825190; Q06418 TYRO3; NbExp=3; IntAct=EBI-10172290, EBI-3951628; P55851 UCP2; NbExp=3; IntAct=EBI-10172290, EBI-2842077; Q9UBK9 UXT; NbExp=3; IntAct=EBI-10172290, EBI-357355; Q9UEU0 VTI1B; NbExp=3; IntAct=EBI-10172290, EBI-723716; Q96HA8 WDYHV1; NbExp=3; IntAct=EBI-10172290, EBI-741158; O96014 WNT11; NbExp=3; IntAct=EBI-10172290, EBI-8058160; O43167 ZBTB24; NbExp=3; IntAct=EBI-10172290, EBI-744471; Q96C00 ZBTB9; NbExp=4; IntAct=EBI-10172290, EBI-395708; Q96H43 ZFYVE26; NbExp=3; IntAct=EBI-10172290, EBI-10286915; Q8IZC7 ZNF101; NbExp=3; IntAct=EBI-10172290, EBI-5278328; Q15973 ZNF124; NbExp=3; IntAct=EBI-10172290, EBI-2555767; P52736 ZNF133; NbExp=3; IntAct=EBI-10172290, EBI-2687350; Q12901-2 ZNF155; NbExp=3; IntAct=EBI-10172290, EBI-10227379; Q53Z40 ZNF165; NbExp=3; IntAct=EBI-10172290, EBI-10186058; Q14929 ZNF169; NbExp=3; IntAct=EBI-10172290, EBI-10234472; Q9Y473 ZNF175; NbExp=3; IntAct=EBI-10172290, EBI-3438881; Q9UJW8 ZNF180; NbExp=3; IntAct=EBI-10172290, EBI-10322527; Q9BSG1-2 ZNF2; NbExp=3; IntAct=EBI-10172290, EBI-10297542; P17024 ZNF20; NbExp=3; IntAct=EBI-10172290, EBI-717634; Q9UK11 ZNF223; NbExp=3; IntAct=EBI-10172290, EBI-10322867; P15622-3 ZNF250; NbExp=3; IntAct=EBI-10172290, EBI-10177272; P17031 ZNF26; NbExp=3; IntAct=EBI-10172290, EBI-2841331; Q14584 ZNF266; NbExp=5; IntAct=EBI-10172290, EBI-7115319; P17041 ZNF32; NbExp=3; IntAct=EBI-10172290, EBI-1965483; A2RRD8 ZNF320; NbExp=3; IntAct=EBI-10172290, EBI-10173019; Q86UD4 ZNF329; NbExp=3; IntAct=EBI-10172290, EBI-7233259; Q9Y3M9 ZNF337; NbExp=3; IntAct=EBI-10172290, EBI-714987; P51814 ZNF41; NbExp=3; IntAct=EBI-10172290, EBI-2681830; Q8TAU3 ZNF417; NbExp=3; IntAct=EBI-10172290, EBI-740727; Q8TF45 ZNF418; NbExp=3; IntAct=EBI-10172290, EBI-3446851; Q96HQ0 ZNF419; NbExp=3; IntAct=EBI-10172290, EBI-10288482; Q6IV72 ZNF425; NbExp=3; IntAct=EBI-10172290, EBI-10250516; Q8N7K0 ZNF433; NbExp=3; IntAct=EBI-10172290, EBI-10267553; Q8NDP4 ZNF439; NbExp=3; IntAct=EBI-10172290, EBI-747580; Q9ULM2 ZNF490; NbExp=3; IntAct=EBI-10172290, EBI-1105370; Q08ER8 ZNF543; NbExp=3; IntAct=EBI-10172290, EBI-10226133; Q8NEP9 ZNF555; NbExp=3; IntAct=EBI-10172290, EBI-10270752; Q8TBZ8 ZNF564; NbExp=3; IntAct=EBI-10172290, EBI-10273713; Q7Z3I7 ZNF572; NbExp=3; IntAct=EBI-10172290, EBI-10257016; Q3MI94 ZNF578; NbExp=3; IntAct=EBI-10172290, EBI-10241108; Q9P0T4 ZNF581; NbExp=3; IntAct=EBI-10172290, EBI-745520; Q96SQ5 ZNF587; NbExp=3; IntAct=EBI-10172290, EBI-6427977; Q96I27 ZNF625; NbExp=3; IntAct=EBI-10172290, EBI-4395587; Q9BS34 ZNF670; NbExp=3; IntAct=EBI-10172290, EBI-745276; Q8N508 ZNF697; NbExp=3; IntAct=EBI-10172290, EBI-10265733; Q96C28 ZNF707; NbExp=3; IntAct=EBI-10172290, EBI-748111; Q96MU6 ZNF778; NbExp=3; IntAct=EBI-10172290, EBI-10291463; Q3KQV3 ZNF792; NbExp=3; IntAct=EBI-10172290, EBI-10240849; Q147U1 ZNF846; NbExp=3; IntAct=EBI-10172290, EBI-10234020; O43257 ZNHIT1; NbExp=3; IntAct=EBI-10172290, EBI-347522; Q16670 ZSCAN26; NbExp=3; IntAct=EBI-10172290, EBI-3920053; # IntAct P60409 274 # InterPro IPR002494 KAP # Organism KR107_HUMAN Homo sapiens (Human) # PANTHER PTHR23262 PTHR23262; 4 # Pfam PF13885 Keratin_B2_2; 4 # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-6805567 Keratinization # RecName KR107_HUMAN Keratin-associated protein 10-7 # RefSeq NP_941962 NM_198689.2 # SIMILARITY Belongs to the KRTAP type 10 family. {ECO 0000305}. # SUBUNIT KR107_HUMAN Interacts with hair keratins. # TISSUE SPECIFICITY KR107_HUMAN Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues. {ECO 0000269|PubMed 14962103, ECO 0000269|PubMed 15028290}. # UCSC uc032qbr human. [P60409-1] # eggNOG ENOG410JBCF Eukaryota # eggNOG ENOG4111398 LUCA BLAST swissprot:KR107_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:KR107_HUMAN BioCyc ZFISH:G66-33569-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33569-MONOMER COXPRESdb 386675 http://coxpresdb.jp/data/gene/386675.shtml CleanEx HS_KRTAP10-7 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_KRTAP10-7 DOI 10.1016/j.ygeno.2003.09.024 http://dx.doi.org/10.1016/j.ygeno.2003.09.024 DOI 10.1038/35012518 http://dx.doi.org/10.1038/35012518 DOI 10.1046/j.0022-202X.2003.22128.x http://dx.doi.org/10.1046/j.0022-202X.2003.22128.x DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL AB076354 http://www.ebi.ac.uk/ena/data/view/AB076354 EMBL AJ566385 http://www.ebi.ac.uk/ena/data/view/AJ566385 EMBL AL773602 http://www.ebi.ac.uk/ena/data/view/AL773602 EMBL BC119643 http://www.ebi.ac.uk/ena/data/view/BC119643 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 Ensembl ENST00000609664 http://www.ensembl.org/id/ENST00000609664 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0045095 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045095 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GeneCards KRTAP10-7 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=KRTAP10-7 GeneID 386675 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=386675 HGNC HGNC:22970 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:22970 HOGENOM HOG000234031 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000234031&db=HOGENOM6 HOVERGEN HBG052270 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052270&db=HOVERGEN InParanoid P60409 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P60409 IntAct P60409 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P60409* InterPro IPR002494 http://www.ebi.ac.uk/interpro/entry/IPR002494 Jabion 386675 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=386675 KEGG_Gene hsa:386675 http://www.genome.jp/dbget-bin/www_bget?hsa:386675 OrthoDB EOG091G17RC http://cegg.unige.ch/orthodb/results?searchtext=EOG091G17RC PANTHER PTHR23262 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23262 PSORT swissprot:KR107_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:KR107_HUMAN PSORT-B swissprot:KR107_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:KR107_HUMAN PSORT2 swissprot:KR107_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:KR107_HUMAN Pfam PF13885 http://pfam.xfam.org/family/PF13885 PharmGKB PA134976547 http://www.pharmgkb.org/do/serve?objId=PA134976547&objCls=Gene Phobius swissprot:KR107_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:KR107_HUMAN PhylomeDB P60409 http://phylomedb.org/?seqid=P60409 ProteinModelPortal P60409 http://www.proteinmodelportal.org/query/uniprot/P60409 PubMed 10830953 http://www.ncbi.nlm.nih.gov/pubmed/10830953 PubMed 14962103 http://www.ncbi.nlm.nih.gov/pubmed/14962103 PubMed 15028290 http://www.ncbi.nlm.nih.gov/pubmed/15028290 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 Reactome R-HSA-6805567 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6805567 RefSeq NP_941962 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_941962 STRING 9606.ENSP00000369445 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000369445&targetmode=cogs UCSC uc032qbr http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc032qbr&org=rat UniGene Hs.473999 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.473999 UniProtKB KR107_HUMAN http://www.uniprot.org/uniprot/KR107_HUMAN UniProtKB-AC P60409 http://www.uniprot.org/uniprot/P60409 charge swissprot:KR107_HUMAN http://rest.g-language.org/emboss/charge/swissprot:KR107_HUMAN eggNOG ENOG410JBCF http://eggnogapi.embl.de/nog_data/html/tree/ENOG410JBCF eggNOG ENOG4111398 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111398 epestfind swissprot:KR107_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:KR107_HUMAN garnier swissprot:KR107_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:KR107_HUMAN helixturnhelix swissprot:KR107_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:KR107_HUMAN hmoment swissprot:KR107_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:KR107_HUMAN iep swissprot:KR107_HUMAN http://rest.g-language.org/emboss/iep/swissprot:KR107_HUMAN inforesidue swissprot:KR107_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:KR107_HUMAN neXtProt NX_P60409 http://www.nextprot.org/db/entry/NX_P60409 octanol swissprot:KR107_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:KR107_HUMAN pepcoil swissprot:KR107_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:KR107_HUMAN pepdigest swissprot:KR107_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:KR107_HUMAN pepinfo swissprot:KR107_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:KR107_HUMAN pepnet swissprot:KR107_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:KR107_HUMAN pepstats swissprot:KR107_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:KR107_HUMAN pepwheel swissprot:KR107_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:KR107_HUMAN pepwindow swissprot:KR107_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:KR107_HUMAN sigcleave swissprot:KR107_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:KR107_HUMAN ## Database ID URL or Descriptions # Ensembl ENST00000307003 ENSP00000304071; ENSG00000170279 # ExpressionAtlas Q8WU49 baseline and differential # Genevisible Q8WU49 HS # HGNC HGNC:21724 C7orf33 # Organism CG033_HUMAN Homo sapiens (Human) # Proteomes UP000005640 Chromosome 7 # RecName CG033_HUMAN Uncharacterized protein C7orf33 # RefSeq NP_660347 NM_145304.3 # UCSC uc003wew human # eggNOG ENOG410KHM3 Eukaryota # eggNOG ENOG4110R57 LUCA BLAST swissprot:CG033_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:CG033_HUMAN BioCyc ZFISH:ENSG00000170279-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000170279-MONOMER COXPRESdb 202865 http://coxpresdb.jp/data/gene/202865.shtml CleanEx HS_C7orf33 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_C7orf33 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 EMBL BC021251 http://www.ebi.ac.uk/ena/data/view/BC021251 Ensembl ENST00000307003 http://www.ensembl.org/id/ENST00000307003 G-Links 9606 http://link.g-language.org/9606/format=tsv GeneCards C7orf33 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=C7orf33 GeneID 202865 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=202865 GeneTree ENSGT00530000065058 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000065058 HGNC HGNC:21724 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21724 HOGENOM HOG000111590 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000111590&db=HOGENOM6 InParanoid Q8WU49 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WU49 Jabion 202865 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=202865 KEGG_Gene hsa:202865 http://www.genome.jp/dbget-bin/www_bget?hsa:202865 OMA LSYKPGR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LSYKPGR OrthoDB EOG091G0MJV http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0MJV PSORT swissprot:CG033_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:CG033_HUMAN PSORT-B swissprot:CG033_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:CG033_HUMAN PSORT2 swissprot:CG033_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:CG033_HUMAN PharmGKB PA134962911 http://www.pharmgkb.org/do/serve?objId=PA134962911&objCls=Gene Phobius swissprot:CG033_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:CG033_HUMAN PhylomeDB Q8WU49 http://phylomedb.org/?seqid=Q8WU49 ProteinModelPortal Q8WU49 http://www.proteinmodelportal.org/query/uniprot/Q8WU49 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 RefSeq NP_660347 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_660347 UCSC uc003wew http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003wew&org=rat UniGene Hs.352212 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.352212 UniProtKB CG033_HUMAN http://www.uniprot.org/uniprot/CG033_HUMAN UniProtKB-AC Q8WU49 http://www.uniprot.org/uniprot/Q8WU49 charge swissprot:CG033_HUMAN http://rest.g-language.org/emboss/charge/swissprot:CG033_HUMAN eggNOG ENOG410KHM3 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410KHM3 eggNOG ENOG4110R57 http://eggnogapi.embl.de/nog_data/html/tree/ENOG4110R57 epestfind swissprot:CG033_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:CG033_HUMAN garnier swissprot:CG033_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:CG033_HUMAN helixturnhelix swissprot:CG033_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:CG033_HUMAN hmoment swissprot:CG033_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:CG033_HUMAN iep swissprot:CG033_HUMAN http://rest.g-language.org/emboss/iep/swissprot:CG033_HUMAN inforesidue swissprot:CG033_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:CG033_HUMAN neXtProt NX_Q8WU49 http://www.nextprot.org/db/entry/NX_Q8WU49 octanol swissprot:CG033_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:CG033_HUMAN pepcoil swissprot:CG033_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:CG033_HUMAN pepdigest swissprot:CG033_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:CG033_HUMAN pepinfo swissprot:CG033_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:CG033_HUMAN pepnet swissprot:CG033_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:CG033_HUMAN pepstats swissprot:CG033_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:CG033_HUMAN pepwheel swissprot:CG033_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:CG033_HUMAN pepwindow swissprot:CG033_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:CG033_HUMAN sigcleave swissprot:CG033_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:CG033_HUMAN ## Database ID URL or Descriptions # ChiTaRS WSCD1 human # Ensembl ENST00000317744 ENSP00000323087; ENSG00000179314 # Ensembl ENST00000539421 ENSP00000446032; ENSG00000179314 # Ensembl ENST00000574232 ENSP00000458374; ENSG00000179314 # Ensembl ENST00000574946 ENSP00000460825; ENSG00000179314 # ExpressionAtlas Q658N2 baseline and differential # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_function GO:0008146 sulfotransferase activity; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_function GO:0003674 molecular_function # Gene3D 3.40.50.300 -; 1. # Genevisible Q658N2 HS # HGNC HGNC:29060 WSCD1 # InterPro IPR000863 Sulfotransferase_dom # InterPro IPR002889 WSC_carb-bd # InterPro IPR027417 P-loop_NTPase # Organism WSCD1_HUMAN Homo sapiens (Human) # PROSITE PS51212 WSC; 2 # Pfam PF00685 Sulfotransfer_1 # Pfam PF01822 WSC; 2 # Proteomes UP000005640 Chromosome 17 # RecName WSCD1_HUMAN WSC domain-containing protein 1 # RefSeq NP_056068 NM_015253.1 # RefSeq XP_005256629 XM_005256572.1 # RefSeq XP_005256630 XM_005256573.1 # SIMILARITY Belongs to the WSCD family. {ECO 0000305}. # SIMILARITY Contains 2 WSC domains. {ECO:0000255|PROSITE- ProRule PRU00558}. # SMART SM00321 WSC; 2 # SUBCELLULAR LOCATION WSCD1_HUMAN Membrane {ECO 0000305}; Single-pass membrane protein {ECO 0000305}. # SUPFAM SSF52540 SSF52540 # UCSC uc002gcn human # eggNOG ENOG410IR06 Eukaryota # eggNOG ENOG4111D3F LUCA BLAST swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:WSCD1_HUMAN COXPRESdb 23302 http://coxpresdb.jp/data/gene/23302.shtml CleanEx HS_WSCD1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_WSCD1 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 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 DOI 10.1186/1471-2164-8-399 http://dx.doi.org/10.1186/1471-2164-8-399 EMBL AB011095 http://www.ebi.ac.uk/ena/data/view/AB011095 EMBL AK289603 http://www.ebi.ac.uk/ena/data/view/AK289603 EMBL AL833730 http://www.ebi.ac.uk/ena/data/view/AL833730 EMBL BC009975 http://www.ebi.ac.uk/ena/data/view/BC009975 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 EMBL CH471108 http://www.ebi.ac.uk/ena/data/view/CH471108 Ensembl ENST00000317744 http://www.ensembl.org/id/ENST00000317744 Ensembl ENST00000539421 http://www.ensembl.org/id/ENST00000539421 Ensembl ENST00000574232 http://www.ensembl.org/id/ENST00000574232 Ensembl ENST00000574946 http://www.ensembl.org/id/ENST00000574946 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:0008146 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008146 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 Gene3D 3.40.50.300 http://www.cathdb.info/version/latest/superfamily/3.40.50.300 GeneCards WSCD1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=WSCD1 GeneID 23302 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=23302 GeneTree ENSGT00390000012250 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000012250 H-InvDB HIX0013475 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0013475 HGNC HGNC:29060 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:29060 HOGENOM HOG000060082 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060082&db=HOGENOM6 HOVERGEN HBG102242 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG102242&db=HOVERGEN HPA HPA015919 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA015919 InParanoid Q658N2 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q658N2 InterPro IPR000863 http://www.ebi.ac.uk/interpro/entry/IPR000863 InterPro IPR002889 http://www.ebi.ac.uk/interpro/entry/IPR002889 InterPro IPR027417 http://www.ebi.ac.uk/interpro/entry/IPR027417 Jabion 23302 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=23302 KEGG_Gene hsa:23302 http://www.genome.jp/dbget-bin/www_bget?hsa:23302 OMA SKEWPDF http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SKEWPDF OrthoDB EOG091G03QE http://cegg.unige.ch/orthodb/results?searchtext=EOG091G03QE PROSITE PS51212 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51212 PSORT swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:WSCD1_HUMAN PSORT-B swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:WSCD1_HUMAN PSORT2 swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:WSCD1_HUMAN Pfam PF00685 http://pfam.xfam.org/family/PF00685 Pfam PF01822 http://pfam.xfam.org/family/PF01822 PharmGKB PA162409253 http://www.pharmgkb.org/do/serve?objId=PA162409253&objCls=Gene Phobius swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:WSCD1_HUMAN PhylomeDB Q658N2 http://phylomedb.org/?seqid=Q658N2 ProteinModelPortal Q658N2 http://www.proteinmodelportal.org/query/uniprot/Q658N2 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 9628581 http://www.ncbi.nlm.nih.gov/pubmed/9628581 RefSeq NP_056068 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_056068 RefSeq XP_005256629 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005256629 RefSeq XP_005256630 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005256630 SMART SM00321 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00321 SMR Q658N2 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q658N2 SUPFAM SSF52540 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52540 UCSC uc002gcn http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002gcn&org=rat UniGene Hs.370166 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.370166 UniProtKB WSCD1_HUMAN http://www.uniprot.org/uniprot/WSCD1_HUMAN UniProtKB-AC Q658N2 http://www.uniprot.org/uniprot/Q658N2 charge swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:WSCD1_HUMAN eggNOG ENOG410IR06 http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IR06 eggNOG ENOG4111D3F http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111D3F epestfind swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:WSCD1_HUMAN garnier swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:WSCD1_HUMAN helixturnhelix swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:WSCD1_HUMAN hmoment swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:WSCD1_HUMAN iep swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:WSCD1_HUMAN inforesidue swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:WSCD1_HUMAN neXtProt NX_Q658N2 http://www.nextprot.org/db/entry/NX_Q658N2 octanol swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:WSCD1_HUMAN pepcoil swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:WSCD1_HUMAN pepdigest swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:WSCD1_HUMAN pepinfo swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:WSCD1_HUMAN pepnet swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:WSCD1_HUMAN pepstats swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:WSCD1_HUMAN pepwheel swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:WSCD1_HUMAN pepwindow swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:WSCD1_HUMAN sigcleave swissprot:WSCD1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:WSCD1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RNF31_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96EP0-1; Sequence=Displayed; Name=2; IsoId=Q96EP0-2; Sequence=VSP_009647, VSP_009648; Note=No experimental confirmation available.; Name=3; IsoId=Q96EP0-3; Sequence=VSP_014006, VSP_014007; # AltName HOIL-1-interacting protein {ECO:0000303|PubMed 22863777} # AltName RING finger protein 31 {ECO:0000312|HGNC HGNC:16031} # AltName Zinc in-between-RING-finger ubiquitin-associated domain protein {ECO:0000303|PubMed 15093743} # BioGrid 120389 72 # CCDS CCDS41931 -. [Q96EP0-1] # CCDS CCDS81792 -. [Q96EP0-3] # ChiTaRS RNF31 human # DOMAIN RNF31_HUMAN RING 1 and IBR zinc-fingers catalyze the first step transfer of ubiquitin from the E2 onto RING 2, to transiently form a HECT-like covalent thioester intermediate. {ECO 0000269|PubMed 22863777}. # DOMAIN RNF31_HUMAN The PUB domain mediates interaction with the PIM motifs of VCP and RNF31, with a strong preference for RNF31. {ECO 0000269|PubMed 24726323, ECO 0000269|PubMed 24726327}. # DOMAIN RNF31_HUMAN The RanBP2-type zinc fingers mediate the specific interaction with ubiquitin. {ECO 0000269|PubMed 21455181}. # DOMAIN RNF31_HUMAN The UBA domain mediates association with RBCK1/HOIL1 via interaction with its UBL domain. # DOMAIN RNF31_HUMAN The linear ubiquitin chain determining domain (LDD) mediates the final transfer of ubiquitin from RING 2 onto the N- terminus of a target ubiquitin. {ECO 0000269|PubMed 22863777}. # Ensembl ENST00000324103 ENSP00000315112; ENSG00000092098. [Q96EP0-1] # Ensembl ENST00000559275 ENSP00000453574; ENSG00000092098. [Q96EP0-3] # ExpressionAtlas Q96EP0 baseline and differential # FUNCTION RNF31_HUMAN E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed 17006537, PubMed 19136968, PubMed 20005846, PubMed 21455173, PubMed 21455180, PubMed 21455181, PubMed 22863777). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (PubMed 17006537, PubMed 19136968, PubMed 20005846, PubMed 21455173, PubMed 21455180, PubMed 21455181, PubMed 22863777). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed 21455173). LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (PubMed 20005846). Together with otulin, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types (PubMed 23708998). {ECO 0000269|PubMed 17006537, ECO 0000269|PubMed 19136968, ECO 0000269|PubMed 20005846, ECO 0000269|PubMed 21455173, ECO 0000269|PubMed 21455180, ECO 0000269|PubMed 21455181, ECO 0000269|PubMed 22863777, ECO 0000269|PubMed 23708998}. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0009898 cytoplasmic side of plasma membrane; ISS:BHF-UCL. # GO_component GO:0035631 CD40 receptor complex; ISS:BHF-UCL. # GO_component GO:0071797 LUBAC complex; IDA:UniProtKB. # GO_function GO:0004842 ubiquitin-protein transferase activity; IDA:UniProtKB. # GO_function GO:0008270 zinc ion binding; IEA:InterPro. # GO_function GO:0016874 ligase activity; IEA:UniProtKB-KW. # GO_function GO:0031625 ubiquitin protein ligase binding; IPI:ParkinsonsUK-UCL. # GO_function GO:0043130 ubiquitin binding; IDA:UniProtKB. # GO_process GO:0000209 protein polyubiquitination; IDA:UniProtKB. # GO_process GO:0007249 I-kappaB kinase/NF-kappaB signaling; TAS:Reactome. # GO_process GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway; TAS:Reactome. # GO_process GO:0023035 CD40 signaling pathway; ISS:BHF-UCL. # GO_process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling; IDA:UniProtKB. # GO_process GO:0050852 T cell receptor signaling pathway; IDA:UniProtKB. # GO_process GO:0051092 positive regulation of NF-kappaB transcription factor activity; IDA:UniProtKB. # GO_process GO:0097039 protein linear polyubiquitination; IDA:UniProtKB. # GO_process GO:1903955 positive regulation of protein targeting to mitochondrion; IMP:ParkinsonsUK-UCL. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005829 cytosol # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016874 ligase activity # GOslim_function GO:0019899 enzyme binding # GOslim_function GO:0032182 ubiquitin-like protein binding # GOslim_function GO:0043167 ion binding # GOslim_process GO:0002376 immune system process # GOslim_process GO:0006464 cellular protein modification process # GOslim_process GO:0007165 signal transduction # GOslim_process GO:0008150 biological_process # Genevisible Q96EP0 HS # HGNC HGNC:16031 RNF31 # INTERACTION RNF31_HUMAN Q08117 AES; NbExp=3; IntAct=EBI-10225152, EBI-717810; Q9QYP6 Azi2 (xeno); NbExp=2; IntAct=EBI-948111, EBI-6115874; Q8N4L8 CCDC24; NbExp=3; IntAct=EBI-10225152, EBI-1104933; Q9BYQ4 KRTAP9-2; NbExp=3; IntAct=EBI-10225152, EBI-1044640; Q9BYM8 RBCK1; NbExp=20; IntAct=EBI-948111, EBI-2340624; Q9H0F6 SHARPIN; NbExp=2; IntAct=EBI-948111, EBI-3942966; P84022 SMAD3; NbExp=2; IntAct=EBI-948111, EBI-347161; Q5TAL4 SNRPC; NbExp=3; IntAct=EBI-10225152, EBI-10246938; Q4VA12 Traf1 (xeno); NbExp=2; IntAct=EBI-948111, EBI-6116765; Q9Y5U2 TSSC4; NbExp=3; IntAct=EBI-10225152, EBI-717229; Q6EMK4 VASN; NbExp=3; IntAct=EBI-10225152, EBI-10249550; # IntAct Q96EP0 28 # InterPro IPR001876 Znf_RanBP2 # InterPro IPR002867 IBR_dom # InterPro IPR015940 UBA # InterPro IPR017907 Znf_RING_CS # InterPro IPR018997 PUB_domain # InterPro IPR026254 RNF31 # InterPro IPR032065 RNF31-UBA # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko04121 Ubiquitin system # MIM 612487 gene # Organism RNF31_HUMAN Homo sapiens (Human) # PANTHER PTHR16004 PTHR16004 # PDB 2CT7 NMR; -; A=779-851 # PDB 4DBG X-ray; 2.71 A; B=480-636 # PDB 4JUY X-ray; 2.40 A; A/B=1-180 # PDB 4LJO X-ray; 1.56 A; A=853-1072 # PDB 4LJP X-ray; 2.15 A; A=853-1072 # PDB 4LJQ X-ray; 2.45 A; A/B/C/D=853-1072 # PDB 4OWF X-ray; 2.00 A; G=350-379 # PDB 4OYJ X-ray; 3.00 A; A/B/C/D/E/F/G/H/I/J/K/L/M=1-184 # PDB 4OYK X-ray; 2.00 A; A/B=3-179 # PDB 4P09 X-ray; 1.70 A; A=1-179 # PDB 4P0A X-ray; 2.30 A; A/C=1-179 # PDB 4P0B X-ray; 2.70 A; A/C=1-179 # PDB 5EDV X-ray; 3.48 A; A/B=696-1072 # PDB 5LJN X-ray; 2.70 A; A/B=5-176 # PROSITE PS00518 ZF_RING_1 # PROSITE PS01358 ZF_RANBP2_1; 3 # PROSITE PS50030 UBA # PROSITE PS50199 ZF_RANBP2_2; 2 # PTM RNF31_HUMAN Autoubiquitinated. Interaction with OTULIN is required to prevent formation of 'Met-1'-linked polyubiquitin chains. {ECO 0000269|PubMed 24726323}. # Pfam PF01485 IBR # Pfam PF09409 PUB # Pfam PF16678 HOIP-UBA # Proteomes UP000005640 Chromosome 14 # Reactome R-HSA-5357905 Regulation of TNFR1 signaling # Reactome R-HSA-5357956 TNFR1-induced NFkappaB signaling pathway # RecName RNF31_HUMAN E3 ubiquitin-protein ligase RNF31 # RefSeq NP_001297261 NM_001310332.1. [Q96EP0-3] # RefSeq NP_060469 NM_017999.4. [Q96EP0-1] # SEQUENCE CAUTION RNF31_HUMAN Sequence=BAB15675.1; Type=Erroneous termination; Positions=1060; Note=Translated as Glu.; Evidence={ECO 0000305}; Sequence=BAB15675.1; Type=Frameshift; Positions=1036; Evidence={ECO 0000305}; Sequence=BAB15675.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO 0000305}; Sequence=BAB70948.1; Type=Erroneous initiation; Evidence={ECO 0000305}; # SIMILARITY Contains 1 IBR-type zinc finger. {ECO 0000305}. # SIMILARITY Contains 1 PUB (PUG) domain. {ECO 0000305}. # SIMILARITY Contains 1 UBA domain. {ECO:0000255|PROSITE- ProRule PRU00212}. # SIMILARITY Contains 2 RING-type zinc fingers. {ECO 0000305}. # SIMILARITY Contains 3 RanBP2-type zinc fingers. {ECO:0000255|PROSITE-ProRule PRU00322}. # SMART SM00547 ZnF_RBZ; 3 # SMART SM00647 IBR; 2 # SUBCELLULAR LOCATION RNF31_HUMAN Cytoplasm {ECO 0000250|UniProtKB Q924T7}. # SUBUNIT RNF31_HUMAN Component of the LUBAC complex (linear ubiquitin chain assembly complex) which consists of SHARPIN, RBCK1 and RNF31 (PubMed 17006537, PubMed 21455173, PubMed 21455180, PubMed 21455181). LUBAC has a MW of approximative 600 kDa suggesting a heteromultimeric assembly of its subunits (PubMed 17006537, PubMed 21455173, PubMed 21455180, PubMed 21455181). Associates with the TNF-R1 signaling complex (TNF-RSC) in a stimulation-dependent manner (PubMed 20005846). Interacts (via the PUB domain) with otulin (via the PIM motif); the interaction is direct (PubMed 23708998, PubMed 24726323, PubMed 24726327). Interacts (via the PUB domain) with VCP (via the PIM motif) (PubMed 24726327). Interacts with CYLD (PubMed 26997266). Interacts with MUSK (By similarity). {ECO 0000250|UniProtKB Q924T7, ECO 0000269|PubMed 17006537, ECO 0000269|PubMed 20005846, ECO 0000269|PubMed 21455173, ECO 0000269|PubMed 21455180, ECO 0000269|PubMed 21455181, ECO 0000269|PubMed 22430200, ECO 0000269|PubMed 23708998, ECO 0000269|PubMed 24726323, ECO 0000269|PubMed 24726327, ECO 0000269|PubMed 26997266}. # SUPFAM SSF143503 SSF143503 # SUPFAM SSF90209 SSF90209 # TISSUE SPECIFICITY Expressed in both normal and transformed breast epithelial cell lines. {ECO:0000269|PubMed 15093743}. # UCSC uc001wml human. [Q96EP0-1] # eggNOG ENOG410XS1H LUCA # eggNOG KOG1812 Eukaryota BLAST swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RNF31_HUMAN COXPRESdb 55072 http://coxpresdb.jp/data/gene/55072.shtml CleanEx HS_RNF31 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RNF31 DIP DIP-44034N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-44034N DOI 10.1016/j.celrep.2016.02.062 http://dx.doi.org/10.1016/j.celrep.2016.02.062 DOI 10.1016/j.jprot.2013.11.014 http://dx.doi.org/10.1016/j.jprot.2013.11.014 DOI 10.1016/j.molcel.2009.10.013 http://dx.doi.org/10.1016/j.molcel.2009.10.013 DOI 10.1016/j.molcel.2014.03.016 http://dx.doi.org/10.1016/j.molcel.2014.03.016 DOI 10.1016/j.molcel.2014.03.018 http://dx.doi.org/10.1016/j.molcel.2014.03.018 DOI 10.1016/j.yexcr.2004.01.019 http://dx.doi.org/10.1016/j.yexcr.2004.01.019 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/emboj.2012.217 http://dx.doi.org/10.1038/emboj.2012.217 DOI 10.1038/embor.2012.24 http://dx.doi.org/10.1038/embor.2012.24 DOI 10.1038/nature01348 http://dx.doi.org/10.1038/nature01348 DOI 10.1038/nature09814 http://dx.doi.org/10.1038/nature09814 DOI 10.1038/nature09815 http://dx.doi.org/10.1038/nature09815 DOI 10.1038/nature09816 http://dx.doi.org/10.1038/nature09816 DOI 10.1038/nature12296 http://dx.doi.org/10.1038/nature12296 DOI 10.1038/ncb1821 http://dx.doi.org/10.1038/ncb1821 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1038/sj.emboj.7601360 http://dx.doi.org/10.1038/sj.emboj.7601360 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 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 EC_number EC:6.3.2.- http://www.genome.jp/dbget-bin/www_bget?EC:6.3.2.- EMBL AB265810 http://www.ebi.ac.uk/ena/data/view/AB265810 EMBL AK000973 http://www.ebi.ac.uk/ena/data/view/AK000973 EMBL AK027154 http://www.ebi.ac.uk/ena/data/view/AK027154 EMBL AK055542 http://www.ebi.ac.uk/ena/data/view/AK055542 EMBL AK074144 http://www.ebi.ac.uk/ena/data/view/AK074144 EMBL AK291247 http://www.ebi.ac.uk/ena/data/view/AK291247 EMBL AL136295 http://www.ebi.ac.uk/ena/data/view/AL136295 EMBL AY256461 http://www.ebi.ac.uk/ena/data/view/AY256461 EMBL BC009821 http://www.ebi.ac.uk/ena/data/view/BC009821 EMBL BC012077 http://www.ebi.ac.uk/ena/data/view/BC012077 EMBL BC017376 http://www.ebi.ac.uk/ena/data/view/BC017376 EMBL CH471078 http://www.ebi.ac.uk/ena/data/view/CH471078 ENZYME 6.3.2.- http://enzyme.expasy.org/EC/6.3.2.- Ensembl ENST00000324103 http://www.ensembl.org/id/ENST00000324103 Ensembl ENST00000559275 http://www.ensembl.org/id/ENST00000559275 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:0009898 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009898 GO_component GO:0035631 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035631 GO_component GO:0071797 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071797 GO_function GO:0004842 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004842 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_function GO:0016874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016874 GO_function GO:0031625 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625 GO_function GO:0043130 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043130 GO_process GO:0000209 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000209 GO_process GO:0007249 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007249 GO_process GO:0010803 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010803 GO_process GO:0023035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0023035 GO_process GO:0043123 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123 GO_process GO:0050852 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050852 GO_process GO:0051092 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051092 GO_process GO:0097039 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097039 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: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:0016874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016874 GOslim_function GO:0019899 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899 GOslim_function GO:0032182 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032182 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: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 RNF31 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RNF31 GeneID 55072 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=55072 GeneTree ENSGT00530000064112 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000064112 HGNC HGNC:16031 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:16031 HOVERGEN HBG063678 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG063678&db=HOVERGEN HPA CAB009063 http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009063 HPA HPA048745 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA048745 InParanoid Q96EP0 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96EP0 IntAct Q96EP0 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96EP0* IntEnz 6.3.2 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=6.3.2 InterPro IPR001876 http://www.ebi.ac.uk/interpro/entry/IPR001876 InterPro IPR002867 http://www.ebi.ac.uk/interpro/entry/IPR002867 InterPro IPR015940 http://www.ebi.ac.uk/interpro/entry/IPR015940 InterPro IPR017907 http://www.ebi.ac.uk/interpro/entry/IPR017907 InterPro IPR018997 http://www.ebi.ac.uk/interpro/entry/IPR018997 InterPro IPR026254 http://www.ebi.ac.uk/interpro/entry/IPR026254 InterPro IPR032065 http://www.ebi.ac.uk/interpro/entry/IPR032065 Jabion 55072 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=55072 KEGG_Brite ko01000 http://www.genome.jp/dbget-bin/www_bget?ko01000 KEGG_Brite ko04121 http://www.genome.jp/dbget-bin/www_bget?ko04121 KEGG_Gene hsa:55072 http://www.genome.jp/dbget-bin/www_bget?hsa:55072 KEGG_Orthology KO:K11974 http://www.genome.jp/dbget-bin/www_bget?KO:K11974 MIM 612487 http://www.ncbi.nlm.nih.gov/omim/612487 MINT MINT-3377714 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3377714 OMA RTNDPEY http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=RTNDPEY OrthoDB EOG091G01NM http://cegg.unige.ch/orthodb/results?searchtext=EOG091G01NM PANTHER PTHR16004 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16004 PDB 2CT7 http://www.ebi.ac.uk/pdbe-srv/view/entry/2CT7 PDB 4DBG http://www.ebi.ac.uk/pdbe-srv/view/entry/4DBG PDB 4JUY http://www.ebi.ac.uk/pdbe-srv/view/entry/4JUY PDB 4LJO http://www.ebi.ac.uk/pdbe-srv/view/entry/4LJO PDB 4LJP http://www.ebi.ac.uk/pdbe-srv/view/entry/4LJP PDB 4LJQ http://www.ebi.ac.uk/pdbe-srv/view/entry/4LJQ PDB 4OWF http://www.ebi.ac.uk/pdbe-srv/view/entry/4OWF PDB 4OYJ http://www.ebi.ac.uk/pdbe-srv/view/entry/4OYJ PDB 4OYK http://www.ebi.ac.uk/pdbe-srv/view/entry/4OYK PDB 4P09 http://www.ebi.ac.uk/pdbe-srv/view/entry/4P09 PDB 4P0A http://www.ebi.ac.uk/pdbe-srv/view/entry/4P0A PDB 4P0B http://www.ebi.ac.uk/pdbe-srv/view/entry/4P0B PDB 5EDV http://www.ebi.ac.uk/pdbe-srv/view/entry/5EDV PDB 5LJN http://www.ebi.ac.uk/pdbe-srv/view/entry/5LJN PDBsum 2CT7 http://www.ebi.ac.uk/pdbsum/2CT7 PDBsum 4DBG http://www.ebi.ac.uk/pdbsum/4DBG PDBsum 4JUY http://www.ebi.ac.uk/pdbsum/4JUY PDBsum 4LJO http://www.ebi.ac.uk/pdbsum/4LJO PDBsum 4LJP http://www.ebi.ac.uk/pdbsum/4LJP PDBsum 4LJQ http://www.ebi.ac.uk/pdbsum/4LJQ PDBsum 4OWF http://www.ebi.ac.uk/pdbsum/4OWF PDBsum 4OYJ http://www.ebi.ac.uk/pdbsum/4OYJ PDBsum 4OYK http://www.ebi.ac.uk/pdbsum/4OYK PDBsum 4P09 http://www.ebi.ac.uk/pdbsum/4P09 PDBsum 4P0A http://www.ebi.ac.uk/pdbsum/4P0A PDBsum 4P0B http://www.ebi.ac.uk/pdbsum/4P0B PDBsum 5EDV http://www.ebi.ac.uk/pdbsum/5EDV PDBsum 5LJN http://www.ebi.ac.uk/pdbsum/5LJN PROSITE PS00518 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00518 PROSITE PS01358 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01358 PROSITE PS50030 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50030 PROSITE PS50199 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50199 PSORT swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RNF31_HUMAN PSORT-B swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RNF31_HUMAN PSORT2 swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RNF31_HUMAN Pfam PF01485 http://pfam.xfam.org/family/PF01485 Pfam PF09409 http://pfam.xfam.org/family/PF09409 Pfam PF16678 http://pfam.xfam.org/family/PF16678 PharmGKB PA134906471 http://www.pharmgkb.org/do/serve?objId=PA134906471&objCls=Gene Phobius swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RNF31_HUMAN PhylomeDB Q96EP0 http://phylomedb.org/?seqid=Q96EP0 ProteinModelPortal Q96EP0 http://www.proteinmodelportal.org/query/uniprot/Q96EP0 PubMed 12508121 http://www.ncbi.nlm.nih.gov/pubmed/12508121 PubMed 12693554 http://www.ncbi.nlm.nih.gov/pubmed/12693554 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15093743 http://www.ncbi.nlm.nih.gov/pubmed/15093743 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 17006537 http://www.ncbi.nlm.nih.gov/pubmed/17006537 PubMed 18220336 http://www.ncbi.nlm.nih.gov/pubmed/18220336 PubMed 18669648 http://www.ncbi.nlm.nih.gov/pubmed/18669648 PubMed 19136968 http://www.ncbi.nlm.nih.gov/pubmed/19136968 PubMed 20005846 http://www.ncbi.nlm.nih.gov/pubmed/20005846 PubMed 21455173 http://www.ncbi.nlm.nih.gov/pubmed/21455173 PubMed 21455180 http://www.ncbi.nlm.nih.gov/pubmed/21455180 PubMed 21455181 http://www.ncbi.nlm.nih.gov/pubmed/21455181 PubMed 22430200 http://www.ncbi.nlm.nih.gov/pubmed/22430200 PubMed 22863777 http://www.ncbi.nlm.nih.gov/pubmed/22863777 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 23708998 http://www.ncbi.nlm.nih.gov/pubmed/23708998 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 24726323 http://www.ncbi.nlm.nih.gov/pubmed/24726323 PubMed 24726327 http://www.ncbi.nlm.nih.gov/pubmed/24726327 PubMed 26997266 http://www.ncbi.nlm.nih.gov/pubmed/26997266 Reactome R-HSA-5357905 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5357905 Reactome R-HSA-5357956 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5357956 RefSeq NP_001297261 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001297261 RefSeq NP_060469 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_060469 SMART SM00547 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00547 SMART SM00647 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00647 SMR Q96EP0 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q96EP0 STRING 9606.ENSP00000315112 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000315112&targetmode=cogs SUPFAM SSF143503 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF143503 SUPFAM SSF90209 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90209 UCSC uc001wml http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001wml&org=rat UniGene Hs.375217 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.375217 UniGene Hs.434081 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.434081 UniProtKB RNF31_HUMAN http://www.uniprot.org/uniprot/RNF31_HUMAN UniProtKB-AC Q96EP0 http://www.uniprot.org/uniprot/Q96EP0 charge swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RNF31_HUMAN eggNOG ENOG410XS1H http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS1H eggNOG KOG1812 http://eggnogapi.embl.de/nog_data/html/tree/KOG1812 epestfind swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RNF31_HUMAN garnier swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RNF31_HUMAN helixturnhelix swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RNF31_HUMAN hmoment swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RNF31_HUMAN iep swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RNF31_HUMAN inforesidue swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RNF31_HUMAN neXtProt NX_Q96EP0 http://www.nextprot.org/db/entry/NX_Q96EP0 octanol swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RNF31_HUMAN pepcoil swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RNF31_HUMAN pepdigest swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RNF31_HUMAN pepinfo swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RNF31_HUMAN pepnet swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RNF31_HUMAN pepstats swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RNF31_HUMAN pepwheel swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RNF31_HUMAN pepwindow swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RNF31_HUMAN sigcleave swissprot:RNF31_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RNF31_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS GAK9_HUMAN Event=Ribosomal frameshifting; Named isoforms=2; Comment=This protein is synthesized as a Gag polypeptide and as a Gag-Pro-Pol polyprotein. The later is the precursor of the Pro and Pol proteins. It is thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=2; IsoId=P63126-1; Sequence=Displayed; Note=Gag-Pro polyprotein is produced from conventional translation of the gag ORF.; Name=1; IsoId=P63128-1; Sequence=External; # AltName GAK9_HUMAN HERV-K(C6) Gag protein # AltName GAK9_HUMAN HERV-K109 Gag protein # AltName GAK9_HUMAN HERV-K_6q14.1 provirus ancestral Gag polyprotein # DOMAIN GAK9_HUMAN HERV-K Gag polyprotein contains regions homologous to the matrix (MA), capsid (CA) and nucleocapsid (NC) proteins from infectious retroviruses. Evidence suggests that HERV-K(HML-2) Gag polyprotein can be cleaved into mature MA, CA and NC under certain circumstances. However, the exact boundaries as well as the size of processed Gag proteins have not been precisely determined yet. # FUNCTION GAK9_HUMAN The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution. # GO_component GO:0005886 plasma membrane; IEA:UniProtKB-SubCell. # GO_component GO:0019028 viral capsid; IEA:InterPro. # GO_function GO:0003676 nucleic acid binding; IEA:InterPro. # GO_function GO:0005198 structural molecule activity; IEA:InterPro. # GO_function GO:0008270 zinc ion binding; IEA:InterPro. # GO_process GO:0016032 viral process; IEA:InterPro. # 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:0043167 ion binding # GOslim_process GO:0044403 symbiosis, encompassing mutualism through parasitism # Gene3D 1.10.1200.30 -; 1. # Gene3D 1.10.375.10 -; 1. # Gene3D 4.10.60.10 -; 2. # HGNC HGNC:39005 ERVK-9 # InterPro IPR000721 Gag_p24 # InterPro IPR001878 Znf_CCHC # InterPro IPR003322 B_retro_matrix # InterPro IPR008916 Retrov_capsid_C # InterPro IPR008919 Retrov_capsid_N # InterPro IPR010999 Retrovr_matrix # MISCELLANEOUS GAK9_HUMAN This Gag protein is encoded by a human specific provirus. # Organism GAK9_HUMAN Homo sapiens (Human) # PROSITE PS50158 ZF_CCHC # PTM GAK9_HUMAN Myristoylation is essential for retroviral assembly. Alteration of the glycine residue leads to a block in the budding of particles and an accumulation of Gag inside the cell (By similarity). {ECO 0000250}. # PTM GAK9_HUMAN Specific enzymatic cleavages may yield mature proteins. {ECO 0000305}. # Pfam PF00098 zf-CCHC # Pfam PF00607 Gag_p24 # Pfam PF02337 Gag_p10 # ProDom PD004265 B_retro_matrix_N # Proteomes UP000005640 Unplaced # RecName GAK9_HUMAN Endogenous retrovirus group K member 9 Gag polyprotein # SEQUENCE CAUTION Sequence=AAD51799.1; Type=Frameshift; Positions=Several; Note=The frameshift occurs probably within the codons for the last amino acids in the Gag and Pro open reading frames.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the beta type-B retroviral Gag protein family. HERV class-II K(HML-2) gag subfamily. {ECO 0000305}. # SIMILARITY Contains 2 CCHC-type zinc fingers. {ECO:0000255|PROSITE-ProRule PRU00047}. # SMART SM00343 ZnF_C2HC; 2 # SUBCELLULAR LOCATION GAK9_HUMAN Cell membrane; Lipid-anchor. Note=Cytoplasmic membrane (in a transfection system). {ECO 0000250}. # SUPFAM SSF47353 SSF47353 # SUPFAM SSF47836 SSF47836 # SUPFAM SSF47943 SSF47943 # SUPFAM SSF57756 SSF57756; 2 BLAST swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:GAK9_HUMAN DOI 10.1016/S0960-9822(99)80390-X http://dx.doi.org/10.1016/S0960-9822(99)80390-X EMBL AF164615 http://www.ebi.ac.uk/ena/data/view/AF164615 G-Links 9606 http://link.g-language.org/9606/format=tsv GO_component GO:0005886 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886 GO_component GO:0019028 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019028 GO_function GO:0003676 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003676 GO_function GO:0005198 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198 GO_function GO:0008270 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270 GO_process GO:0016032 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/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:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0044403 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403 Gene3D 1.10.1200.30 http://www.cathdb.info/version/latest/superfamily/1.10.1200.30 Gene3D 1.10.375.10 http://www.cathdb.info/version/latest/superfamily/1.10.375.10 Gene3D 4.10.60.10 http://www.cathdb.info/version/latest/superfamily/4.10.60.10 GeneCards ERVK-9 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ERVK-9 HGNC HGNC:39005 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:39005 HOVERGEN HBG081547 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG081547&db=HOVERGEN InterPro IPR000721 http://www.ebi.ac.uk/interpro/entry/IPR000721 InterPro IPR001878 http://www.ebi.ac.uk/interpro/entry/IPR001878 InterPro IPR003322 http://www.ebi.ac.uk/interpro/entry/IPR003322 InterPro IPR008916 http://www.ebi.ac.uk/interpro/entry/IPR008916 InterPro IPR008919 http://www.ebi.ac.uk/interpro/entry/IPR008919 InterPro IPR010999 http://www.ebi.ac.uk/interpro/entry/IPR010999 PROSITE PS50158 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50158 PSORT swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:GAK9_HUMAN PSORT-B swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:GAK9_HUMAN PSORT2 swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:GAK9_HUMAN Pfam PF00098 http://pfam.xfam.org/family/PF00098 Pfam PF00607 http://pfam.xfam.org/family/PF00607 Pfam PF02337 http://pfam.xfam.org/family/PF02337 Phobius swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:GAK9_HUMAN PhylomeDB P63126 http://phylomedb.org/?seqid=P63126 ProteinModelPortal P63126 http://www.proteinmodelportal.org/query/uniprot/P63126 PubMed 10469592 http://www.ncbi.nlm.nih.gov/pubmed/10469592 PubMed 7983737 http://www.ncbi.nlm.nih.gov/pubmed/7983737 SMART SM00343 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00343 SMR P63126 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P63126 SUPFAM SSF47353 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47353 SUPFAM SSF47836 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47836 SUPFAM SSF47943 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47943 SUPFAM SSF57756 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF57756 UniProtKB GAK9_HUMAN http://www.uniprot.org/uniprot/GAK9_HUMAN UniProtKB-AC P63126 http://www.uniprot.org/uniprot/P63126 charge swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/charge/swissprot:GAK9_HUMAN epestfind swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:GAK9_HUMAN garnier swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:GAK9_HUMAN helixturnhelix swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:GAK9_HUMAN hmoment swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:GAK9_HUMAN iep swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/iep/swissprot:GAK9_HUMAN inforesidue swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:GAK9_HUMAN neXtProt NX_P63126 http://www.nextprot.org/db/entry/NX_P63126 octanol swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:GAK9_HUMAN pepcoil swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:GAK9_HUMAN pepdigest swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:GAK9_HUMAN pepinfo swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:GAK9_HUMAN pepnet swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:GAK9_HUMAN pepstats swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:GAK9_HUMAN pepwheel swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:GAK9_HUMAN pepwindow swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:GAK9_HUMAN sigcleave swissprot:GAK9_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:GAK9_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS RENR_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75787-1; Sequence=Displayed; Name=2; IsoId=O75787-2; Sequence=VSP_056910; Note=No experimental confirmation available.; # AltName RENR_HUMAN ATPase H(+)-transporting lysosomal accessory protein 2 # AltName RENR_HUMAN ATPase H(+)-transporting lysosomal-interacting protein 2 # AltName RENR_HUMAN ER-localized type I transmembrane adaptor # AltName RENR_HUMAN Embryonic liver differentiation factor 10 # AltName RENR_HUMAN N14F # AltName RENR_HUMAN Renin/prorenin receptor # AltName RENR_HUMAN Vacuolar ATP synthase membrane sector-associated protein M8-9 # BioGrid 115461 109 # CCDS CCDS14252 -. [O75787-1] # ChiTaRS ATP6AP2 human # DISEASE RENR_HUMAN Mental retardation, X-linked, with epilepsy (MRXE) [MIM 300423] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy. {ECO 0000269|PubMed 15746149}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE RENR_HUMAN Parkinsonism with spasticity, X-linked (XPDS) [MIM 300911] A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. {ECO 0000269|PubMed 23595882}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000636409 ENSP00000489819; ENSG00000182220. [O75787-2] # Ensembl ENST00000636580 ENSP00000490083; ENSG00000182220. [O75787-1] # ExpressionAtlas O75787 baseline and differential # FUNCTION RENR_HUMAN Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS). {ECO 0000269|PubMed 12045255}. # GO_component GO:0005886 plasma membrane; TAS:Reactome. # GO_component GO:0009897 external side of plasma membrane; IDA:HGNC. # GO_component GO:0016021 integral component of membrane; IEA:UniProtKB-KW. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004872 receptor activity; IEA:InterPro. # GO_process GO:0002003 angiotensin maturation; IDA:HGNC. # GO_process GO:0021903 rostrocaudal neural tube patterning; IMP:UniProtKB. # GO_process GO:0030177 positive regulation of Wnt signaling pathway; IMP:UniProtKB. # GO_process GO:0032914 positive regulation of transforming growth factor beta1 production; IDA:HGNC. # GO_process GO:0043408 regulation of MAPK cascade; IDA:HGNC. # GO_process GO:0048069 eye pigmentation; IMP:UniProtKB. # GO_process GO:0060323 head morphogenesis; IMP: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_process GO:0008150 biological_process # GOslim_process GO:0034641 cellular nitrogen compound metabolic process # GOslim_process GO:0043473 pigmentation # GOslim_process GO:0051604 protein maturation # Genevisible O75787 HS # HGNC HGNC:18305 ATP6AP2 # IntAct O75787 86 # InterPro IPR012493 Renin_rcpt # KEGG_Disease H00577 [Congenital disorder; Mental retardation; Epilepsy] Rolandic epilepsy # MIM 300423 phenotype # MIM 300556 gene # MIM 300911 phenotype # Organism RENR_HUMAN Homo sapiens (Human) # Orphanet 363654 X-linked parkinsonism-spasticity syndrome # Orphanet 93952 X-linked intellectual disability, Hedera type # PANTHER PTHR13351 PTHR13351 # PDB 3LBS X-ray; 2.15 A; A/B=333-350 # PDB 3LC8 X-ray; 2.00 A; A/B=333-350 # PIR T08667 T08667 # PTM RENR_HUMAN Phosphorylated. {ECO 0000269|PubMed 12045255}. # Pfam PF07850 Renin_r # Proteomes UP000005640 Chromosome X # Reactome R-HSA-2022377 Metabolism of Angiotensinogen to Angiotensins # Reactome R-HSA-6798695 Neutrophil degranulation # RecName RENR_HUMAN Renin receptor # RefSeq NP_005756 NM_005765.2. [O75787-1] # SEQUENCE CAUTION Sequence=AAH10395.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ13511.1; Type=Frameshift; Positions=155; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; Sequence=CAA76984.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; # SUBCELLULAR LOCATION RENR_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. # SUBUNIT Interacts with renin and the vacuolar proton-ATPase. {ECO:0000269|PubMed 12045255}. # TCDB 8.A.80.1 the (pro)renin receptor (prr) family # TISSUE SPECIFICITY RENR_HUMAN Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. {ECO 0000269|PubMed 12045255, ECO 0000269|PubMed 15746149}. # TopDownProteomics O75787-1 -. [O75787-1] # UCSC uc004det human. [O75787-1] # eggNOG ENOG4111F0U LUCA # eggNOG KOG4737 Eukaryota BLAST swissprot:RENR_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:RENR_HUMAN BioCyc MetaCyc:MONOMER66-34369 http://biocyc.org/getid?id=MetaCyc:MONOMER66-34369 BioCyc ZFISH:MONOMER66-34369 http://biocyc.org/getid?id=ZFISH:MONOMER66-34369 COXPRESdb 10159 http://coxpresdb.jp/data/gene/10159.shtml DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 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.160270997 http://dx.doi.org/10.1073/pnas.160270997 DOI 10.1074/jbc.273.18.10939 http://dx.doi.org/10.1074/jbc.273.18.10939 DOI 10.1093/dnares/12.2.117 http://dx.doi.org/10.1093/dnares/12.2.117 DOI 10.1093/hmg/ddi094 http://dx.doi.org/10.1093/hmg/ddi094 DOI 10.1093/hmg/ddt180 http://dx.doi.org/10.1093/hmg/ddt180 DOI 10.1101/gr.2596504 http://dx.doi.org/10.1101/gr.2596504 DOI 10.1172/JCI0214276 http://dx.doi.org/10.1172/JCI0214276 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 AC092473 http://www.ebi.ac.uk/ena/data/view/AC092473 EMBL AF109363 http://www.ebi.ac.uk/ena/data/view/AF109363 EMBL AF248966 http://www.ebi.ac.uk/ena/data/view/AF248966 EMBL AF291814 http://www.ebi.ac.uk/ena/data/view/AF291814 EMBL AK075382 http://www.ebi.ac.uk/ena/data/view/AK075382 EMBL AK315948 http://www.ebi.ac.uk/ena/data/view/AK315948 EMBL AL049929 http://www.ebi.ac.uk/ena/data/view/AL049929 EMBL AY038990 http://www.ebi.ac.uk/ena/data/view/AY038990 EMBL AY429341 http://www.ebi.ac.uk/ena/data/view/AY429341 EMBL BC010395 http://www.ebi.ac.uk/ena/data/view/BC010395 EMBL BC084541 http://www.ebi.ac.uk/ena/data/view/BC084541 EMBL Y17975 http://www.ebi.ac.uk/ena/data/view/Y17975 Ensembl ENST00000636409 http://www.ensembl.org/id/ENST00000636409 Ensembl ENST00000636580 http://www.ensembl.org/id/ENST00000636580 G-Links 9606 http://link.g-language.org/9606/format=tsv 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:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004872 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004872 GO_process GO:0002003 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002003 GO_process GO:0021903 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021903 GO_process GO:0030177 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030177 GO_process GO:0032914 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032914 GO_process GO:0043408 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043408 GO_process GO:0048069 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048069 GO_process GO:0060323 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060323 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-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_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:0043473 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043473 GOslim_process GO:0051604 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051604 GeneCards ATP6AP2 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ATP6AP2 GeneID 10159 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10159 GeneTree ENSGT00390000008856 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000008856 HGNC HGNC:18305 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18305 HOVERGEN HBG056579 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG056579&db=HOVERGEN HPA HPA003156 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003156 IntAct O75787 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O75787* InterPro IPR012493 http://www.ebi.ac.uk/interpro/entry/IPR012493 Jabion 10159 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10159 KEGG_Disease H00577 http://www.genome.jp/dbget-bin/www_bget?H00577 KEGG_Gene hsa:10159 http://www.genome.jp/dbget-bin/www_bget?hsa:10159 MIM 300423 http://www.ncbi.nlm.nih.gov/omim/300423 MIM 300556 http://www.ncbi.nlm.nih.gov/omim/300556 MIM 300911 http://www.ncbi.nlm.nih.gov/omim/300911 OMA NLWNMDP http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=NLWNMDP Orphanet 363654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=363654 Orphanet 93952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93952 OrthoDB EOG091G0HQ3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HQ3 PANTHER PTHR13351 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13351 PDB 3LBS http://www.ebi.ac.uk/pdbe-srv/view/entry/3LBS PDB 3LC8 http://www.ebi.ac.uk/pdbe-srv/view/entry/3LC8 PDBsum 3LBS http://www.ebi.ac.uk/pdbsum/3LBS PDBsum 3LC8 http://www.ebi.ac.uk/pdbsum/3LC8 PSORT swissprot:RENR_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:RENR_HUMAN PSORT-B swissprot:RENR_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:RENR_HUMAN PSORT2 swissprot:RENR_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:RENR_HUMAN Pfam PF07850 http://pfam.xfam.org/family/PF07850 PharmGKB PA25148 http://www.pharmgkb.org/do/serve?objId=PA25148&objCls=Gene Phobius swissprot:RENR_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:RENR_HUMAN PhylomeDB O75787 http://phylomedb.org/?seqid=O75787 ProteinModelPortal O75787 http://www.proteinmodelportal.org/query/uniprot/O75787 PubMed 10931946 http://www.ncbi.nlm.nih.gov/pubmed/10931946 PubMed 12045255 http://www.ncbi.nlm.nih.gov/pubmed/12045255 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15746149 http://www.ncbi.nlm.nih.gov/pubmed/15746149 PubMed 15772651 http://www.ncbi.nlm.nih.gov/pubmed/15772651 PubMed 16303743 http://www.ncbi.nlm.nih.gov/pubmed/16303743 PubMed 17974005 http://www.ncbi.nlm.nih.gov/pubmed/17974005 PubMed 21269460 http://www.ncbi.nlm.nih.gov/pubmed/21269460 PubMed 23595882 http://www.ncbi.nlm.nih.gov/pubmed/23595882 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 9556572 http://www.ncbi.nlm.nih.gov/pubmed/9556572 Reactome R-HSA-2022377 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2022377 Reactome R-HSA-6798695 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695 RefSeq NP_005756 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005756 SMR O75787 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O75787 STRING 9606.ENSP00000367697 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000367697&targetmode=cogs TCDB 8.A.80.1 http://www.tcdb.org/search/result.php?tc=8.A.80.1 UCSC uc004det http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004det&org=rat UniGene Hs.495960 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.495960 UniProtKB RENR_HUMAN http://www.uniprot.org/uniprot/RENR_HUMAN UniProtKB-AC O75787 http://www.uniprot.org/uniprot/O75787 charge swissprot:RENR_HUMAN http://rest.g-language.org/emboss/charge/swissprot:RENR_HUMAN eggNOG ENOG4111F0U http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111F0U eggNOG KOG4737 http://eggnogapi.embl.de/nog_data/html/tree/KOG4737 epestfind swissprot:RENR_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:RENR_HUMAN garnier swissprot:RENR_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:RENR_HUMAN helixturnhelix swissprot:RENR_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:RENR_HUMAN hmoment swissprot:RENR_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:RENR_HUMAN iep swissprot:RENR_HUMAN http://rest.g-language.org/emboss/iep/swissprot:RENR_HUMAN inforesidue swissprot:RENR_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:RENR_HUMAN neXtProt NX_O75787 http://www.nextprot.org/db/entry/NX_O75787 octanol swissprot:RENR_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:RENR_HUMAN pepcoil swissprot:RENR_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:RENR_HUMAN pepdigest swissprot:RENR_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:RENR_HUMAN pepinfo swissprot:RENR_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:RENR_HUMAN pepnet swissprot:RENR_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:RENR_HUMAN pepstats swissprot:RENR_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:RENR_HUMAN pepwheel swissprot:RENR_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:RENR_HUMAN pepwindow swissprot:RENR_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:RENR_HUMAN sigcleave swissprot:RENR_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:RENR_HUMAN ## Database ID URL or Descriptions # AltName SYG_HUMAN Diadenosine tetraphosphate synthetase # AltName SYG_HUMAN Glycyl-tRNA synthetase # BIOPHYSICOCHEMICAL PROPERTIES SYG_HUMAN Kinetic parameters KM=1.3 uM for tRNA(Gly(GCC)) {ECO 0000269|PubMed 17544401}; KM=15 uM for glycine {ECO 0000269|PubMed 17544401}; # BRENDA 6.1.1.14 2681 # BioGrid 108887 89 # CATALYTIC ACTIVITY ATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl-tRNA(Gly). {ECO:0000269|PubMed 17544401}. # CATALYTIC ACTIVITY P(1),P(4)-bis(5'-guanosyl) tetraphosphate + H(2)O = GTP + GMP. {ECO:0000269|PubMed 19710017}. # CAUTION SYG_HUMAN According to a report, variant Leu-635 induces reduced activity (PubMed 17544401). According to another report, it does not affect function (PubMed 25168514). {ECO 0000269|PubMed 17544401, ECO 0000269|PubMed 25168514}. # CDD cd00774 GlyRS-like_core # ChiTaRS GARS human # DISEASE SYG_HUMAN Charcot-Marie-Tooth disease 2D (CMT2D) [MIM 601472] A dominant 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 12690580, ECO 0000269|PubMed 26244500}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE SYG_HUMAN Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM 600794] A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases 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 12690580, ECO 0000269|PubMed 24627108}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DrugBank DB00145 Glycine # Ensembl ENST00000389266 ENSP00000373918; ENSG00000106105 # ExpressionAtlas P41250 baseline and differential # FUNCTION SYG_HUMAN Catalyzes the attachment of glycine to tRNA(Gly). Is also able produce diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. {ECO 0000269|PubMed 17544401, ECO 0000269|PubMed 19710017}. # GO_component GO:0005654 nucleoplasm; IDA:HPA. # GO_component GO:0005737 cytoplasm; IDA:HPA. # GO_component GO:0005759 mitochondrial matrix; TAS:Reactome. # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0030141 secretory granule; IEA:Ensembl. # GO_component GO:0030424 axon; IDA:UniProtKB. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004081 bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity; IDA:UniProtKB. # GO_function GO:0004820 glycine-tRNA ligase activity; IDA:UniProtKB. # GO_function GO:0005524 ATP binding; IEA:UniProtKB-KW. # GO_function GO:0046983 protein dimerization activity; IDA:UniProtKB. # GO_process GO:0006418 tRNA aminoacylation for protein translation; TAS:Reactome. # GO_process GO:0006426 glycyl-tRNA aminoacylation; IBA:GO_Central. # GO_process GO:0015966 diadenosine tetraphosphate biosynthetic process; IDA:UniProtKB. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005654 nucleoplasm # GOslim_component GO:0005737 cytoplasm # GOslim_component GO:0005829 cytosol # GOslim_component GO:0031410 cytoplasmic vesicle # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016874 ligase activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006399 tRNA metabolic process # GOslim_process GO:0006520 cellular amino acid 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 # Gene3D 1.10.287.10 -; 1. # Gene3D 3.40.50.800 -; 1. # Genevisible P41250 HS # HGNC HGNC:4162 GARS # IntAct P41250 19 # InterPro IPR000738 WHEP-TRS_dom # InterPro IPR002314 aa-tRNA-synt_IIb # InterPro IPR002315 tRNA-synt_gly # InterPro IPR004154 Anticodon-bd # InterPro IPR006195 aa-tRNA-synth_II # InterPro IPR009068 S15_NS1_RNA-bd # InterPro IPR027031 Gly-tRNA_synthase/POLG2 # InterPro IPR033731 GlyRS-like_core # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Brite ko01007 Amino acid related enzymes # KEGG_Brite ko03016 Transfer RNA biogenesis # KEGG_Disease H00264 [Neurodegenerative disease] Peroneal muscular atrophy # KEGG_Disease H00856 [Nervous system disease] Distal hereditary motor neuropathies (dHMN) # KEGG_Pathway ko00970 Aminoacyl-tRNA biosynthesis # MIM 600287 gene # MIM 600794 phenotype # MIM 601472 phenotype # Organism SYG_HUMAN Homo sapiens (Human) # Orphanet 139536 Distal hereditary motor neuropathy type 5 # Orphanet 99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D # PANTHER PTHR10745 PTHR10745 # PDB 2PME X-ray; 2.90 A; A=55-739 # PDB 2PMF X-ray; 2.85 A; A=55-739 # PDB 2Q5H X-ray; 3.00 A; A=55-739 # PDB 2Q5I X-ray; 2.80 A; A=55-739 # PDB 2ZT5 X-ray; 2.50 A; A=55-739 # PDB 2ZT6 X-ray; 3.08 A; A=55-739 # PDB 2ZT7 X-ray; 2.70 A; A=55-739 # PDB 2ZT8 X-ray; 3.35 A; A=55-739 # PDB 2ZXF X-ray; 3.40 A; A=55-739 # PDB 4KQE X-ray; 2.74 A; A=55-739 # PDB 4KR2 X-ray; 3.29 A; A=114-739 # PDB 4KR3 X-ray; 3.24 A; A=114-739 # PDB 4QEI X-ray; 2.88 A; A=118-739 # PDB 5E6M X-ray; 2.93 A; A/B=55-739 # PIR A55314 A55314 # PRINTS PR01043 TRNASYNTHGLY # PROSITE PS00762 WHEP_TRS_1 # PROSITE PS50862 AA_TRNA_LIGASE_II # PROSITE PS51185 WHEP_TRS_2 # Pfam PF00458 WHEP-TRS # Pfam PF00587 tRNA-synt_2b # Pfam PF03129 HGTP_anticodon # Proteomes UP000005640 Chromosome 7 # Reactome R-HSA-379716 Cytosolic tRNA aminoacylation # Reactome R-HSA-379726 Mitochondrial tRNA aminoacylation # RecName SYG_HUMAN Glycine--tRNA ligase # RefSeq NP_001303701 NM_001316772.1 # RefSeq NP_002038 NM_002047.3 # SEQUENCE CAUTION Sequence=AAA57001.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA86443.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Belongs to the class-II aminoacyl-tRNA synthetase family. {ECO 0000305}. # SIMILARITY Contains 1 WHEP-TRS domain. {ECO:0000255|PROSITE- ProRule PRU00531}. # SMART SM00991 WHEP-TRS # SUBCELLULAR LOCATION SYG_HUMAN Cytoplasm {ECO 0000269|PubMed 9524218}. Mitochondrion {ECO 0000269|PubMed 9524218}. Cell projection, axon {ECO 0000269|PubMed 17035524, ECO 0000269|PubMed 25168514}. Note=Associated with granules in cultured neuron cells. {ECO 0000269|PubMed 17035524}. # SUBUNIT SYG_HUMAN Homodimer. {ECO 0000269|PubMed 17544401, ECO 0000269|PubMed 17545306, ECO 0000269|PubMed 19710017}. # SUPFAM SSF47060 SSF47060 # SUPFAM SSF52954 SSF52954 # TIGRFAMs TIGR00389 glyS_dimeric # TISSUE SPECIFICITY Widely expressed, including brain and spinal cord. {ECO:0000269|PubMed 12690580}. # UCSC uc003tbm human # WEB RESOURCE SYG_HUMAN Name=Inherited peripheral neuropathies mutation db; URL="http //www.molgen.ua.ac.be/CMTMutations/"; # eggNOG COG0423 LUCA # eggNOG KOG2298 Eukaryota BLAST swissprot:SYG_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:SYG_HUMAN BioCyc ZFISH:HS02863-MONOMER http://biocyc.org/getid?id=ZFISH:HS02863-MONOMER COG COG0423 http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0423 COXPRESdb 2617 http://coxpresdb.jp/data/gene/2617.shtml CleanEx HS_GARS http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GARS DIP DIP-50471N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-50471N DOI 10.1002/humu.22681 http://dx.doi.org/10.1002/humu.22681 DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1007/s00415-014-7289-8 http://dx.doi.org/10.1007/s00415-014-7289-8 DOI 10.1016/S0378-1119(98)00007-9 http://dx.doi.org/10.1016/S0378-1119(98)00007-9 DOI 10.1016/j.febslet.2007.05.046 http://dx.doi.org/10.1016/j.febslet.2007.05.046 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/nature01782 http://dx.doi.org/10.1038/nature01782 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1073/pnas.0703908104 http://dx.doi.org/10.1073/pnas.0703908104 DOI 10.1074/jbc.M109.030692 http://dx.doi.org/10.1074/jbc.M109.030692 DOI 10.1086/375039 http://dx.doi.org/10.1086/375039 DOI 10.1093/nar/23.8.1307 http://dx.doi.org/10.1093/nar/23.8.1307 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 10.1371/journal.pone.0133423 http://dx.doi.org/10.1371/journal.pone.0133423 DOI 10.1523/JNEUROSCI.1671-06.2006 http://dx.doi.org/10.1523/JNEUROSCI.1671-06.2006 DrugBank DB00145 http://www.drugbank.ca/drugs/DB00145 EC_number EC:3.6.1.17 {ECO:0000269|PubMed:19710017} http://www.genome.jp/dbget-bin/www_bget?EC:3.6.1.17 {ECO:0000269|PubMed:19710017} EC_number EC:6.1.1.14 {ECO:0000269|PubMed:17544401} http://www.genome.jp/dbget-bin/www_bget?EC:6.1.1.14 {ECO:0000269|PubMed:17544401} EMBL AC004976 http://www.ebi.ac.uk/ena/data/view/AC004976 EMBL AC005154 http://www.ebi.ac.uk/ena/data/view/AC005154 EMBL AC006969 http://www.ebi.ac.uk/ena/data/view/AC006969 EMBL AK074524 http://www.ebi.ac.uk/ena/data/view/AK074524 EMBL AK295490 http://www.ebi.ac.uk/ena/data/view/AK295490 EMBL BC007722 http://www.ebi.ac.uk/ena/data/view/BC007722 EMBL BC007755 http://www.ebi.ac.uk/ena/data/view/BC007755 EMBL D30658 http://www.ebi.ac.uk/ena/data/view/D30658 EMBL U09510 http://www.ebi.ac.uk/ena/data/view/U09510 EMBL U09587 http://www.ebi.ac.uk/ena/data/view/U09587 ENZYME 3.6.1.17 {ECO:0000269|PubMed:19710017} http://enzyme.expasy.org/EC/3.6.1.17 {ECO:0000269|PubMed:19710017} ENZYME 6.1.1.14 {ECO:0000269|PubMed:17544401} http://enzyme.expasy.org/EC/6.1.1.14 {ECO:0000269|PubMed:17544401} Ensembl ENST00000389266 http://www.ensembl.org/id/ENST00000389266 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: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:0030141 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030141 GO_component GO:0030424 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424 GO_component GO:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004081 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004081 GO_function GO:0004820 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004820 GO_function GO:0005524 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005524 GO_function GO:0046983 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046983 GO_process GO:0006418 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006418 GO_process GO:0006426 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006426 GO_process GO:0015966 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015966 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: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:0016874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016874 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006399 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006399 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 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 1.10.287.10 http://www.cathdb.info/version/latest/superfamily/1.10.287.10 Gene3D 3.40.50.800 http://www.cathdb.info/version/latest/superfamily/3.40.50.800 GeneCards GARS http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GARS GeneID 2617 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2617 GeneTree ENSGT00390000016949 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016949 H-InvDB HIX0006570 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0006570 HGNC HGNC:4162 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4162 HOGENOM HOG000242015 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000242015&db=HOGENOM6 HOVERGEN HBG036190 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG036190&db=HOVERGEN HPA HPA017896 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA017896 HPA HPA019097 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019097 InParanoid P41250 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P41250 IntAct P41250 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P41250* IntEnz 3.6.1.17 {ECO:0000269|PubMed:19710017} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=3.6.1.17 {ECO:0000269|PubMed:19710017} IntEnz 6.1.1.14 {ECO:0000269|PubMed:17544401} http://www.ebi.ac.uk/intenz/query?cmd=Search&q=6.1.1.14 {ECO:0000269|PubMed:17544401} InterPro IPR000738 http://www.ebi.ac.uk/interpro/entry/IPR000738 InterPro IPR002314 http://www.ebi.ac.uk/interpro/entry/IPR002314 InterPro IPR002315 http://www.ebi.ac.uk/interpro/entry/IPR002315 InterPro IPR004154 http://www.ebi.ac.uk/interpro/entry/IPR004154 InterPro IPR006195 http://www.ebi.ac.uk/interpro/entry/IPR006195 InterPro IPR009068 http://www.ebi.ac.uk/interpro/entry/IPR009068 InterPro IPR027031 http://www.ebi.ac.uk/interpro/entry/IPR027031 InterPro IPR033731 http://www.ebi.ac.uk/interpro/entry/IPR033731 Jabion 2617 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2617 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_Brite ko01007 http://www.genome.jp/dbget-bin/www_bget?ko01007 KEGG_Brite ko03016 http://www.genome.jp/dbget-bin/www_bget?ko03016 KEGG_Disease H00264 http://www.genome.jp/dbget-bin/www_bget?H00264 KEGG_Disease H00856 http://www.genome.jp/dbget-bin/www_bget?H00856 KEGG_Gene hsa:2617 http://www.genome.jp/dbget-bin/www_bget?hsa:2617 KEGG_Orthology KO:K01880 http://www.genome.jp/dbget-bin/www_bget?KO:K01880 KEGG_Pathway ko00970 http://www.genome.jp/kegg-bin/show_pathway?ko00970 KEGG_Reaction rn:R03654 http://www.genome.jp/dbget-bin/www_bget?rn:R03654 MIM 600287 http://www.ncbi.nlm.nih.gov/omim/600287 MIM 600794 http://www.ncbi.nlm.nih.gov/omim/600794 MIM 601472 http://www.ncbi.nlm.nih.gov/omim/601472 MINT MINT-1395438 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1395438 OMA ERFGWVE http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=ERFGWVE Orphanet 139536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=139536 Orphanet 99938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=99938 OrthoDB EOG091G02U0 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G02U0 PANTHER PTHR10745 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10745 PDB 2PME http://www.ebi.ac.uk/pdbe-srv/view/entry/2PME PDB 2PMF http://www.ebi.ac.uk/pdbe-srv/view/entry/2PMF PDB 2Q5H http://www.ebi.ac.uk/pdbe-srv/view/entry/2Q5H PDB 2Q5I http://www.ebi.ac.uk/pdbe-srv/view/entry/2Q5I PDB 2ZT5 http://www.ebi.ac.uk/pdbe-srv/view/entry/2ZT5 PDB 2ZT6 http://www.ebi.ac.uk/pdbe-srv/view/entry/2ZT6 PDB 2ZT7 http://www.ebi.ac.uk/pdbe-srv/view/entry/2ZT7 PDB 2ZT8 http://www.ebi.ac.uk/pdbe-srv/view/entry/2ZT8 PDB 2ZXF http://www.ebi.ac.uk/pdbe-srv/view/entry/2ZXF PDB 4KQE http://www.ebi.ac.uk/pdbe-srv/view/entry/4KQE PDB 4KR2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4KR2 PDB 4KR3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4KR3 PDB 4QEI http://www.ebi.ac.uk/pdbe-srv/view/entry/4QEI PDB 5E6M http://www.ebi.ac.uk/pdbe-srv/view/entry/5E6M PDBsum 2PME http://www.ebi.ac.uk/pdbsum/2PME PDBsum 2PMF http://www.ebi.ac.uk/pdbsum/2PMF PDBsum 2Q5H http://www.ebi.ac.uk/pdbsum/2Q5H PDBsum 2Q5I http://www.ebi.ac.uk/pdbsum/2Q5I PDBsum 2ZT5 http://www.ebi.ac.uk/pdbsum/2ZT5 PDBsum 2ZT6 http://www.ebi.ac.uk/pdbsum/2ZT6 PDBsum 2ZT7 http://www.ebi.ac.uk/pdbsum/2ZT7 PDBsum 2ZT8 http://www.ebi.ac.uk/pdbsum/2ZT8 PDBsum 2ZXF http://www.ebi.ac.uk/pdbsum/2ZXF PDBsum 4KQE http://www.ebi.ac.uk/pdbsum/4KQE PDBsum 4KR2 http://www.ebi.ac.uk/pdbsum/4KR2 PDBsum 4KR3 http://www.ebi.ac.uk/pdbsum/4KR3 PDBsum 4QEI http://www.ebi.ac.uk/pdbsum/4QEI PDBsum 5E6M http://www.ebi.ac.uk/pdbsum/5E6M PRINTS PR01043 http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01043 PROSITE PS00762 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00762 PROSITE PS50862 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50862 PROSITE PS51185 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51185 PSORT swissprot:SYG_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:SYG_HUMAN PSORT-B swissprot:SYG_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:SYG_HUMAN PSORT2 swissprot:SYG_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:SYG_HUMAN Pfam PF00458 http://pfam.xfam.org/family/PF00458 Pfam PF00587 http://pfam.xfam.org/family/PF00587 Pfam PF03129 http://pfam.xfam.org/family/PF03129 PharmGKB PA28575 http://www.pharmgkb.org/do/serve?objId=PA28575&objCls=Gene Phobius swissprot:SYG_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:SYG_HUMAN PhylomeDB P41250 http://phylomedb.org/?seqid=P41250 ProteinModelPortal P41250 http://www.proteinmodelportal.org/query/uniprot/P41250 PubMed 12690580 http://www.ncbi.nlm.nih.gov/pubmed/12690580 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 17035524 http://www.ncbi.nlm.nih.gov/pubmed/17035524 PubMed 17544401 http://www.ncbi.nlm.nih.gov/pubmed/17544401 PubMed 17545306 http://www.ncbi.nlm.nih.gov/pubmed/17545306 PubMed 19608861 http://www.ncbi.nlm.nih.gov/pubmed/19608861 PubMed 19710017 http://www.ncbi.nlm.nih.gov/pubmed/19710017 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 24627108 http://www.ncbi.nlm.nih.gov/pubmed/24627108 PubMed 25168514 http://www.ncbi.nlm.nih.gov/pubmed/25168514 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 26244500 http://www.ncbi.nlm.nih.gov/pubmed/26244500 PubMed 7753621 http://www.ncbi.nlm.nih.gov/pubmed/7753621 PubMed 7961834 http://www.ncbi.nlm.nih.gov/pubmed/7961834 PubMed 7962006 http://www.ncbi.nlm.nih.gov/pubmed/7962006 PubMed 9524218 http://www.ncbi.nlm.nih.gov/pubmed/9524218 Reactome R-HSA-379716 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-379716 Reactome R-HSA-379726 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-379726 RefSeq NP_001303701 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001303701 RefSeq NP_002038 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002038 SMART SM00991 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00991 SMR P41250 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P41250 STRING 9606.ENSP00000373918 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000373918&targetmode=cogs STRING COG0423 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0423&targetmode=cogs SUPFAM SSF47060 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47060 SUPFAM SSF52954 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52954 TIGRFAMs TIGR00389 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00389 UCSC uc003tbm http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003tbm&org=rat UniGene Hs.404321 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.404321 UniProtKB SYG_HUMAN http://www.uniprot.org/uniprot/SYG_HUMAN UniProtKB-AC P41250 http://www.uniprot.org/uniprot/P41250 charge swissprot:SYG_HUMAN http://rest.g-language.org/emboss/charge/swissprot:SYG_HUMAN eggNOG COG0423 http://eggnogapi.embl.de/nog_data/html/tree/COG0423 eggNOG KOG2298 http://eggnogapi.embl.de/nog_data/html/tree/KOG2298 epestfind swissprot:SYG_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:SYG_HUMAN garnier swissprot:SYG_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:SYG_HUMAN helixturnhelix swissprot:SYG_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:SYG_HUMAN hmoment swissprot:SYG_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:SYG_HUMAN iep swissprot:SYG_HUMAN http://rest.g-language.org/emboss/iep/swissprot:SYG_HUMAN inforesidue swissprot:SYG_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:SYG_HUMAN neXtProt NX_P41250 http://www.nextprot.org/db/entry/NX_P41250 octanol swissprot:SYG_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:SYG_HUMAN pepcoil swissprot:SYG_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:SYG_HUMAN pepdigest swissprot:SYG_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:SYG_HUMAN pepinfo swissprot:SYG_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:SYG_HUMAN pepnet swissprot:SYG_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:SYG_HUMAN pepstats swissprot:SYG_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:SYG_HUMAN pepwheel swissprot:SYG_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:SYG_HUMAN pepwindow swissprot:SYG_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:SYG_HUMAN sigcleave swissprot:SYG_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:SYG_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MTX1_HUMAN Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q13505-1; Sequence=Displayed; Name=2; IsoId=Q13505-2; Sequence=VSP_035742; Name=3; IsoId=Q13505-3; Sequence=VSP_035741; # AltName MTX1_HUMAN Mitochondrial outer membrane import complex protein 1 # BioGrid 110667 33 # CCDS CCDS1100 -. [Q13505-1] # CCDS CCDS1101 -. [Q13505-2] # Ensembl ENST00000609421 ENSP00000476632; ENSG00000173171. [Q13505-3] # ExpressionAtlas Q13505 baseline and differential # FUNCTION MTX1_HUMAN Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity). {ECO 0000250}. # GO_component GO:0005741 mitochondrial outer membrane; IEA:UniProtKB-SubCell. # GO_component GO:0016021 integral component of membrane; TAS:ProtInc. # GO_process GO:0006626 protein targeting to mitochondrion; IEA:InterPro. # GOslim_component GO:0005575 cellular_component # GOslim_process GO:0006605 protein targeting # Gene3D 1.20.1050.10 -; 1. # Genevisible Q13505 HS # HGNC HGNC:7504 MTX1 # IntAct Q13505 4 # InterPro IPR010987 Glutathione-S-Trfase_C-like # InterPro IPR019564 Sam37/metaxin_N # InterPro IPR033468 Metaxin_GST # MIM 600605 gene # Organism MTX1_HUMAN Homo sapiens (Human) # PTM MTX1_HUMAN Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. {ECO 0000269|PubMed 25621951}. # Pfam PF10568 Tom37 # Pfam PF17171 GST_C_6 # Proteomes UP000005640 Chromosome 1 # Reactome R-HSA-1268020 Mitochondrial protein import # RecName MTX1_HUMAN Metaxin-1 # RefSeq NP_002446 NM_002455.4 # RefSeq NP_942584 NM_198883.3 # SIMILARITY Belongs to the metaxin family. {ECO 0000305}. # SUBCELLULAR LOCATION MTX1_HUMAN Membrane {ECO 0000305}; Single-pass type I membrane protein {ECO 0000305}. Mitochondrion outer membrane {ECO 0000250}. # SUBUNIT MTX1_HUMAN Interacts with MTX2/metaxin-2. Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. {ECO 0000269|PubMed 10381257, ECO 0000269|PubMed 22114354, ECO 0000269|PubMed 25997101}. # SUPFAM SSF47616 SSF47616 # TopDownProteomics Q13505-1 -. [Q13505-1] # TopDownProteomics Q13505-3 -. [Q13505-3] # UCSC uc001fjc human. [Q13505-1] # eggNOG ENOG41100SS LUCA # eggNOG KOG3028 Eukaryota BLAST swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MTX1_HUMAN BioCyc ZFISH:ENSG00000173171-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000173171-MONOMER COXPRESdb 4580 http://coxpresdb.jp/data/gene/4580.shtml CleanEx HS_MTX1 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MTX1 DOI 10.1002/(SICI)1097-4644(19990701)74:1<11::AID-JCB2>3.3.CO http://dx.doi.org/10.1002/(SICI)1097-4644(19990701)74:1<11::AID-JCB2>3.3.CO DOI 10.1002/pmic.201400617 http://dx.doi.org/10.1002/pmic.201400617 DOI 10.1006/geno.1996.0181 http://dx.doi.org/10.1006/geno.1996.0181 DOI 10.1038/nature04727 http://dx.doi.org/10.1038/nature04727 DOI 10.1038/ncb3097 http://dx.doi.org/10.1038/ncb3097 DOI 10.1038/ng1285 http://dx.doi.org/10.1038/ng1285 DOI 10.1091/mbc.E11-09-0774 http://dx.doi.org/10.1091/mbc.E11-09-0774 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 10.7554/eLife.06265 http://dx.doi.org/10.7554/eLife.06265 EMBL AF023268 http://www.ebi.ac.uk/ena/data/view/AF023268 EMBL AK313863 http://www.ebi.ac.uk/ena/data/view/AK313863 EMBL AL713999 http://www.ebi.ac.uk/ena/data/view/AL713999 EMBL AL713999 http://www.ebi.ac.uk/ena/data/view/AL713999 EMBL BC001906 http://www.ebi.ac.uk/ena/data/view/BC001906 EMBL CH471121 http://www.ebi.ac.uk/ena/data/view/CH471121 EMBL U46920 http://www.ebi.ac.uk/ena/data/view/U46920 Ensembl ENST00000609421 http://www.ensembl.org/id/ENST00000609421 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:0016021 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021 GO_process GO:0006626 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006626 GOslim_component GO:0005575 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575 GOslim_process GO:0006605 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006605 Gene3D 1.20.1050.10 http://www.cathdb.info/version/latest/superfamily/1.20.1050.10 GeneCards MTX1 http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MTX1 GeneID 4580 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4580 GeneTree ENSGT00530000063166 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063166 H-InvDB HIX0001121 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0001121 HGNC HGNC:7504 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:7504 HOGENOM HOG000237279 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000237279&db=HOGENOM6 HOVERGEN HBG001655 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG001655&db=HOVERGEN HPA HPA011543 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA011543 InParanoid Q13505 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13505 IntAct Q13505 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13505* InterPro IPR010987 http://www.ebi.ac.uk/interpro/entry/IPR010987 InterPro IPR019564 http://www.ebi.ac.uk/interpro/entry/IPR019564 InterPro IPR033468 http://www.ebi.ac.uk/interpro/entry/IPR033468 Jabion 4580 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4580 KEGG_Gene hsa:4580 http://www.genome.jp/dbget-bin/www_bget?hsa:4580 MIM 600605 http://www.ncbi.nlm.nih.gov/omim/600605 MINT MINT-3027869 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3027869 PSORT swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:MTX1_HUMAN PSORT-B swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:MTX1_HUMAN PSORT2 swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:MTX1_HUMAN Pfam PF10568 http://pfam.xfam.org/family/PF10568 Pfam PF17171 http://pfam.xfam.org/family/PF17171 PharmGKB PA31306 http://www.pharmgkb.org/do/serve?objId=PA31306&objCls=Gene Phobius swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:MTX1_HUMAN PhylomeDB Q13505 http://phylomedb.org/?seqid=Q13505 ProteinModelPortal Q13505 http://www.proteinmodelportal.org/query/uniprot/Q13505 PubMed 10381257 http://www.ncbi.nlm.nih.gov/pubmed/10381257 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 22114354 http://www.ncbi.nlm.nih.gov/pubmed/22114354 PubMed 25621951 http://www.ncbi.nlm.nih.gov/pubmed/25621951 PubMed 25944712 http://www.ncbi.nlm.nih.gov/pubmed/25944712 PubMed 25997101 http://www.ncbi.nlm.nih.gov/pubmed/25997101 PubMed 8660965 http://www.ncbi.nlm.nih.gov/pubmed/8660965 PubMed 9331372 http://www.ncbi.nlm.nih.gov/pubmed/9331372 Reactome R-HSA-1268020 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1268020 RefSeq NP_002446 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002446 RefSeq NP_942584 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_942584 SMR Q13505 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13505 STRING 9606.ENSP00000357360 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000357360&targetmode=cogs SUPFAM SSF47616 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47616 UCSC uc001fjc http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001fjc&org=rat UniGene Hs.490874 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.490874 UniProtKB MTX1_HUMAN http://www.uniprot.org/uniprot/MTX1_HUMAN UniProtKB-AC Q13505 http://www.uniprot.org/uniprot/Q13505 charge swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/charge/swissprot:MTX1_HUMAN eggNOG ENOG41100SS http://eggnogapi.embl.de/nog_data/html/tree/ENOG41100SS eggNOG KOG3028 http://eggnogapi.embl.de/nog_data/html/tree/KOG3028 epestfind swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:MTX1_HUMAN garnier swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:MTX1_HUMAN helixturnhelix swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:MTX1_HUMAN hmoment swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:MTX1_HUMAN iep swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/iep/swissprot:MTX1_HUMAN inforesidue swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:MTX1_HUMAN neXtProt NX_Q13505 http://www.nextprot.org/db/entry/NX_Q13505 octanol swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:MTX1_HUMAN pepcoil swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:MTX1_HUMAN pepdigest swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:MTX1_HUMAN pepinfo swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:MTX1_HUMAN pepnet swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:MTX1_HUMAN pepstats swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:MTX1_HUMAN pepwheel swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:MTX1_HUMAN pepwindow swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:MTX1_HUMAN sigcleave swissprot:MTX1_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:MTX1_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS NTM2A_HUMAN Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IVF1-1; Sequence=Displayed; Name=2; IsoId=Q8IVF1-2; Sequence=VSP_034018, VSP_034020; # CCDS CCDS44452 -. [Q8IVF1-1] # Ensembl ENST00000381689 ENSP00000371107; ENSG00000184923. [Q8IVF1-2] # Ensembl ENST00000381707 ENSP00000371126; ENSG00000184923. [Q8IVF1-1] # Genevisible Q8IVF1 HS # HGNC HGNC:23438 NUTM2A # InterPro IPR024309 NUT_N # InterPro IPR024310 NUT # Organism NTM2A_HUMAN Homo sapiens (Human) # PANTHER PTHR22879 PTHR22879; 2 # Pfam PF12881 NUT # Proteomes UP000005640 Chromosome 10 # RecName NTM2A_HUMAN NUT family member 2A # RefSeq NP_001092808 NM_001099338.1. [Q8IVF1-1] # RefSeq XP_011538424 XM_011540122.2. [Q8IVF1-1] # RefSeq XP_016872096 XM_017016607.1. [Q8IVF1-2] # SEQUENCE CAUTION Sequence=BAC23116.1; Type=Frameshift; Positions=83; Evidence={ECO:0000305}; Sequence=CAH72466.1; Type=Erroneous gene model prediction; Evidence={ECO 0000305}; # SIMILARITY Belongs to the NUT family. {ECO 0000305}. # UCSC uc001kek human. [Q8IVF1-1] # eggNOG ENOG410J94Q Eukaryota # eggNOG ENOG4111C0H LUCA BLAST swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:NTM2A_HUMAN BioCyc ZFISH:G66-31241-MONOMER http://biocyc.org/getid?id=ZFISH:G66-31241-MONOMER COXPRESdb 728118 http://coxpresdb.jp/data/gene/728118.shtml CleanEx HS_FAM22A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FAM22A CleanEx HS_FAM22D http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FAM22D DOI 10.1038/nature02462 http://dx.doi.org/10.1038/nature02462 EMBL AB095940 http://www.ebi.ac.uk/ena/data/view/AB095940 EMBL AL157893 http://www.ebi.ac.uk/ena/data/view/AL157893 Ensembl ENST00000381689 http://www.ensembl.org/id/ENST00000381689 Ensembl ENST00000381707 http://www.ensembl.org/id/ENST00000381707 G-Links 9606 http://link.g-language.org/9606/format=tsv GeneCards NUTM2A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=NUTM2A GeneID 728118 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=728118 GeneTree ENSGT00410000025793 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00410000025793 HGNC HGNC:23438 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:23438 HOGENOM HOG000112470 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000112470&db=HOGENOM6 HOVERGEN HBG107898 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG107898&db=HOVERGEN InParanoid Q8IVF1 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IVF1 IntAct Q8IVF1 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IVF1* InterPro IPR024309 http://www.ebi.ac.uk/interpro/entry/IPR024309 InterPro IPR024310 http://www.ebi.ac.uk/interpro/entry/IPR024310 Jabion 728118 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=728118 KEGG_Gene hsa:728118 http://www.genome.jp/dbget-bin/www_bget?hsa:728118 OMA QWMKEPQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=QWMKEPQ OrthoDB EOG091G034P http://cegg.unige.ch/orthodb/results?searchtext=EOG091G034P PANTHER PTHR22879 http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22879 PSORT swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:NTM2A_HUMAN PSORT-B swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:NTM2A_HUMAN PSORT2 swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:NTM2A_HUMAN Pfam PF12881 http://pfam.xfam.org/family/PF12881 PharmGKB PA134875735 http://www.pharmgkb.org/do/serve?objId=PA134875735&objCls=Gene Phobius swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:NTM2A_HUMAN PhylomeDB Q8IVF1 http://phylomedb.org/?seqid=Q8IVF1 ProteinModelPortal Q8IVF1 http://www.proteinmodelportal.org/query/uniprot/Q8IVF1 PubMed 15164054 http://www.ncbi.nlm.nih.gov/pubmed/15164054 RefSeq NP_001092808 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001092808 RefSeq XP_011538424 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011538424 RefSeq XP_016872096 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016872096 STRING 9606.ENSP00000371126 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371126&targetmode=cogs UCSC uc001kek http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001kek&org=rat UniGene Hs.701044 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.701044 UniGene Hs.710565 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.710565 UniProtKB NTM2A_HUMAN http://www.uniprot.org/uniprot/NTM2A_HUMAN UniProtKB-AC Q8IVF1 http://www.uniprot.org/uniprot/Q8IVF1 charge swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:NTM2A_HUMAN eggNOG ENOG410J94Q http://eggnogapi.embl.de/nog_data/html/tree/ENOG410J94Q eggNOG ENOG4111C0H http://eggnogapi.embl.de/nog_data/html/tree/ENOG4111C0H epestfind swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:NTM2A_HUMAN garnier swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:NTM2A_HUMAN helixturnhelix swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:NTM2A_HUMAN hmoment swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:NTM2A_HUMAN iep swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:NTM2A_HUMAN inforesidue swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:NTM2A_HUMAN neXtProt NX_Q8IVF1 http://www.nextprot.org/db/entry/NX_Q8IVF1 octanol swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:NTM2A_HUMAN pepcoil swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:NTM2A_HUMAN pepdigest swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:NTM2A_HUMAN pepinfo swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:NTM2A_HUMAN pepnet swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:NTM2A_HUMAN pepstats swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:NTM2A_HUMAN pepwheel swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:NTM2A_HUMAN pepwindow swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:NTM2A_HUMAN sigcleave swissprot:NTM2A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:NTM2A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS PUR2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P22102-1; Sequence=Displayed; Name=Short; IsoId=P22102-2; Sequence=VSP_005517; # AltName PUR2_HUMAN 5'-phosphoribosylglycinamide transformylase # AltName PUR2_HUMAN AIR synthase # AltName PUR2_HUMAN GAR transformylase # AltName PUR2_HUMAN Glycinamide ribonucleotide synthetase # AltName PUR2_HUMAN Phosphoribosyl-aminoimidazole synthetase # AltName PUR2_HUMAN Phosphoribosyl-aminoimidazole synthetase # AltName PUR2_HUMAN Phosphoribosylglycinamide synthetase # AltName PUR2_HUMAN Phosphoribosylglycinamide synthetase # BRENDA 2.1.2 2681 # BioGrid 108888 65 # CATALYTIC ACTIVITY PUR2_HUMAN 10-formyltetrahydrofolate + N(1)-(5-phospho-D- ribosyl)glycinamide = tetrahydrofolate + N(2)-formyl-N(1)-(5- phospho-D-ribosyl)glycinamide. # CATALYTIC ACTIVITY PUR2_HUMAN ATP + 2-(formamido)-N(1)-(5-phospho-D- ribosyl)acetamidine = ADP + phosphate + 5-amino-1-(5-phospho-D- ribosyl)imidazole. # CATALYTIC ACTIVITY PUR2_HUMAN ATP + 5-phospho-D-ribosylamine + glycine = ADP + phosphate + N(1)-(5-phospho-D-ribosyl)glycinamide. # CCDS CCDS13627 -. [P22102-1] # CCDS CCDS13628 -. [P22102-2] # CDD cd02196 PurM # CDD cd08645 FMT_core_GART # ChiTaRS GART human # DrugBank DB00642 Pemetrexed # Ensembl ENST00000361093 ENSP00000354388; ENSG00000159131. [P22102-2] # Ensembl ENST00000381815 ENSP00000371236; ENSG00000159131. [P22102-1] # Ensembl ENST00000381831 ENSP00000371253; ENSG00000159131. [P22102-1] # Ensembl ENST00000381839 ENSP00000371261; ENSG00000159131. [P22102-1] # Ensembl ENST00000571089 ENSP00000459532; ENSG00000262473 # Ensembl ENST00000573055 ENSP00000459391; ENSG00000262473 # Ensembl ENST00000575273 ENSP00000461700; ENSG00000262473 # ExpressionAtlas P22102 baseline and differential # GO_component GO:0005829 cytosol; TAS:Reactome. # GO_component GO:0070062 extracellular exosome; IDA:UniProtKB. # GO_function GO:0004637 phosphoribosylamine-glycine ligase activity; TAS:Reactome. # GO_function GO:0004641 phosphoribosylformylglycinamidine cyclo-ligase activity; TAS:Reactome. # GO_function GO:0004644 phosphoribosylglycinamide formyltransferase 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:0003360 brainstem development; IEA:Ensembl. # GO_process GO:0006189 'de novo' IMP biosynthetic process; IEA:UniProtKB-UniPathway. # GO_process GO:0006544 glycine metabolic process; IEA:Ensembl. # GO_process GO:0009113 purine nucleobase biosynthetic process; IEA:InterPro. # GO_process GO:0009168 purine ribonucleoside monophosphate biosynthetic process; TAS:Reactome. # GO_process GO:0010033 response to organic substance; IEA:Ensembl. # GO_process GO:0010035 response to inorganic substance; IEA:Ensembl. # GO_process GO:0021549 cerebellum development; IEA:Ensembl. # GO_process GO:0021987 cerebral cortex development; IEA:Ensembl. # GO_process GO:0046654 tetrahydrofolate biosynthetic process; IEA:Ensembl. # GOslim_component GO:0005829 cytosol # GOslim_component GO:0043226 organelle # GOslim_function GO:0003674 molecular_function # GOslim_function GO:0016874 ligase activity # GOslim_function GO:0043167 ion binding # GOslim_process GO:0006520 cellular amino acid 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:0048856 anatomical structure development # GOslim_process GO:0051186 cofactor metabolic process # Gene3D 3.30.1330.10 -; 1. # Gene3D 3.30.1490.20 -; 1. # Gene3D 3.30.470.20 -; 1. # Gene3D 3.40.50.170 -; 1. # Gene3D 3.40.50.20 -; 1. # Gene3D 3.90.600.10 -; 1. # Gene3D 3.90.650.10 -; 1. # Genevisible P22102 HS # HAMAP MF_00138 GARS # HAMAP MF_00741 AIRS # HAMAP MF_01930 PurN # HGNC HGNC:4163 GART # IntAct P22102 23 # InterPro IPR000115 PRibGlycinamide_synth # InterPro IPR001555 GART_AS # InterPro IPR002376 Formyl_transf_N # InterPro IPR004607 PurN # InterPro IPR004733 PurM_cligase # InterPro IPR010918 AIR_synth_C_dom # InterPro IPR011054 Rudment_hybrid_motif # InterPro IPR011761 ATP-grasp # InterPro IPR013815 ATP_grasp_subdomain_1 # InterPro IPR013816 ATP_grasp_subdomain_2 # InterPro IPR016185 PreATP-grasp_dom # InterPro IPR016188 PurM-like_N # InterPro IPR020559 PRibGlycinamide_synth_CS # InterPro IPR020560 PRibGlycinamide_synth_C-dom # InterPro IPR020561 PRibGlycinamid_synth_ATP-grasp # InterPro IPR020562 PRibGlycinamide_synth_N # KEGG_Brite ko00001 KEGG Orthology (KO) # KEGG_Brite ko00002 KEGG pathway modules # KEGG_Brite ko01000 Enzymes # KEGG_Pathway ko00230 Purine metabolism # KEGG_Pathway ko00670 One carbon pool by folate # MIM 138440 gene # Organism PUR2_HUMAN Homo sapiens (Human) # PATHWAY Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole from N(2)-formyl-N(1)-(5- phospho-D-ribosyl)glycinamide step 2/2. # PATHWAY Purine metabolism; IMP biosynthesis via de novo pathway; N(1)-(5-phospho-D-ribosyl)glycinamide from 5-phospho-alpha-D- ribose 1-diphosphate step 2/2. # PATHWAY Purine metabolism; IMP biosynthesis via de novo pathway; N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide from N(1)-(5- phospho-D-ribosyl)glycinamide (10-formyl THF route) step 1/1. # PDB 1MEJ X-ray; 2.00 A; A/B/C=810-1010 # PDB 1MEN X-ray; 2.23 A; A/B/C=810-1010 # PDB 1MEO X-ray; 1.72 A; A=808-1010 # PDB 1NJS X-ray; 1.98 A; A/B=808-1010 # PDB 1RBM X-ray; 2.30 A; A/B=808-1010 # PDB 1RBQ X-ray; 2.10 A; A/B/C/D=808-1010 # PDB 1RBY X-ray; 2.10 A; A/B/C/D=808-1010 # PDB 1RBZ X-ray; 2.10 A; A/B=808-1010 # PDB 1RC0 X-ray; 2.05 A; A/B=808-1010 # PDB 1RC1 X-ray; 2.25 A; A/B=808-1010 # PDB 1ZLX X-ray; 2.20 A; A=808-1010 # PDB 1ZLY X-ray; 2.07 A; A=808-1010 # PDB 2QK4 X-ray; 2.45 A; A/B=1-430 # PDB 2V9Y X-ray; 2.10 A; A/B=467-794 # PDB 4EW1 X-ray; 1.52 A; A=810-1010 # PDB 4EW2 X-ray; 1.60 A; A=808-1010 # PDB 4EW3 X-ray; 1.70 A; A=808-1010 # PDB 4ZYT X-ray; 1.70 A; A=808-1010 # PDB 4ZYU X-ray; 1.95 A; A=808-1010 # PDB 4ZYV X-ray; 2.05 A; A=808-1010 # PDB 4ZYW X-ray; 2.05 A; A=808-1010 # PDB 4ZYX X-ray; 1.65 A; A=808-1010 # PDB 4ZYY X-ray; 1.85 A; A=808-1010 # PDB 4ZYZ X-ray; 1.60 A; A=808-1010 # PDB 4ZZ0 X-ray; 1.65 A; A=808-1010 # PDB 4ZZ1 X-ray; 1.35 A; A=808-1010 # PDB 4ZZ2 X-ray; 1.45 A; A=808-1010 # PDB 4ZZ3 X-ray; 2.50 A; A=808-1010 # PDB 5J9F X-ray; 2.10 A; A=808-1010 # PIR S12616 AJHUPR # PROSITE PS00184 GARS # PROSITE PS00373 GART # PROSITE PS50975 ATP_GRASP # Pfam PF00551 Formyl_trans_N # Pfam PF00586 AIRS # Pfam PF01071 GARS_A # Pfam PF02769 AIRS_C # Pfam PF02843 GARS_C # Pfam PF02844 GARS_N # Proteomes UP000005640 Chromosome 21 # Reactome R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis # RecName PUR2_HUMAN Phosphoribosylamine--glycine ligase # RecName PUR2_HUMAN Phosphoribosylformylglycinamidine cyclo-ligase # RecName PUR2_HUMAN Phosphoribosylglycinamide formyltransferase # RecName PUR2_HUMAN Trifunctional purine biosynthetic protein adenosine-3 # RecName PUR2_HUMAN Trifunctional purine biosynthetic protein adenosine-3 # RefSeq NP_000810 NM_000819.4. [P22102-1] # RefSeq NP_001129477 NM_001136005.1. [P22102-1] # RefSeq NP_001129478 NM_001136006.1. [P22102-1] # RefSeq NP_780294 NM_175085.2. [P22102-2] # RefSeq XP_005260998 XM_005260941.1. [P22102-1] # RefSeq XP_006724052 XM_006723989.1. [P22102-1] # RefSeq XP_006724053 XM_006723990.1. [P22102-1] # RefSeq XP_011527828 XM_011529526.1. [P22102-1] # SIMILARITY Contains 1 ATP-grasp domain. {ECO 0000305}. # SIMILARITY In the C-terminal section; belongs to the GART family. {ECO 0000305}. # SIMILARITY In the N-terminal section; belongs to the GARS family. {ECO 0000305}. # SIMILARITY In the central section; belongs to the AIR synthase family. {ECO 0000305}. # SMART SM01210 GARS_C # SUPFAM SSF51246 SSF51246 # SUPFAM SSF52440 SSF52440 # SUPFAM SSF53328 SSF53328 # SUPFAM SSF56042 SSF56042 # TIGRFAMs TIGR00639 PurN # TIGRFAMs TIGR00877 purD # TIGRFAMs TIGR00878 purM # UCSC uc002yrx human. [P22102-1] # UniPathway UPA00074 UER00125 # UniPathway UPA00074 UER00126 # UniPathway UPA00074 UER00129 # eggNOG COG0150 LUCA # eggNOG COG0151 LUCA # eggNOG COG0299 LUCA # eggNOG KOG0237 Eukaryota # eggNOG KOG3076 Eukaryota BLAST swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:PUR2_HUMAN BioCyc MetaCyc:HS08358-MONOMER http://biocyc.org/getid?id=MetaCyc:HS08358-MONOMER BioCyc ZFISH:HS08358-MONOMER http://biocyc.org/getid?id=ZFISH:HS08358-MONOMER COXPRESdb 2618 http://coxpresdb.jp/data/gene/2618.shtml CleanEx HS_GART http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GART 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/bi020522m http://dx.doi.org/10.1021/bi020522m DOI 10.1021/bi034219c http://dx.doi.org/10.1021/bi034219c DOI 10.1021/bi050307g http://dx.doi.org/10.1021/bi050307g DOI 10.1021/pr300630k http://dx.doi.org/10.1021/pr300630k 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.87.8.2916 http://dx.doi.org/10.1073/pnas.87.8.2916 DOI 10.1093/nar/18.22.6665 http://dx.doi.org/10.1093/nar/18.22.6665 DOI 10.1093/nar/25.15.3118 http://dx.doi.org/10.1093/nar/25.15.3118 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 DB00642 http://www.drugbank.ca/drugs/DB00642 EC_number EC:2.1.2.2 http://www.genome.jp/dbget-bin/www_bget?EC:2.1.2.2 EC_number EC:6.3.3.1 http://www.genome.jp/dbget-bin/www_bget?EC:6.3.3.1 EC_number EC:6.3.4.13 http://www.genome.jp/dbget-bin/www_bget?EC:6.3.4.13 EMBL AF008653 http://www.ebi.ac.uk/ena/data/view/AF008653 EMBL AK292560 http://www.ebi.ac.uk/ena/data/view/AK292560 EMBL AK292897 http://www.ebi.ac.uk/ena/data/view/AK292897 EMBL BC038958 http://www.ebi.ac.uk/ena/data/view/BC038958 EMBL BC093641 http://www.ebi.ac.uk/ena/data/view/BC093641 EMBL BC101565 http://www.ebi.ac.uk/ena/data/view/BC101565 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL CH471079 http://www.ebi.ac.uk/ena/data/view/CH471079 EMBL M32082 http://www.ebi.ac.uk/ena/data/view/M32082 EMBL X54199 http://www.ebi.ac.uk/ena/data/view/X54199 ENZYME 2.1.2.2 http://enzyme.expasy.org/EC/2.1.2.2 ENZYME 6.3.3.1 http://enzyme.expasy.org/EC/6.3.3.1 ENZYME 6.3.4.13 http://enzyme.expasy.org/EC/6.3.4.13 Ensembl ENST00000361093 http://www.ensembl.org/id/ENST00000361093 Ensembl ENST00000381815 http://www.ensembl.org/id/ENST00000381815 Ensembl ENST00000381831 http://www.ensembl.org/id/ENST00000381831 Ensembl ENST00000381839 http://www.ensembl.org/id/ENST00000381839 Ensembl ENST00000571089 http://www.ensembl.org/id/ENST00000571089 Ensembl ENST00000573055 http://www.ensembl.org/id/ENST00000573055 Ensembl ENST00000575273 http://www.ensembl.org/id/ENST00000575273 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:0070062 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062 GO_function GO:0004637 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004637 GO_function GO:0004641 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004641 GO_function GO:0004644 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004644 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:0003360 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003360 GO_process GO:0006189 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006189 GO_process GO:0006544 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006544 GO_process GO:0009113 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009113 GO_process GO:0009168 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009168 GO_process GO:0010033 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010033 GO_process GO:0010035 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010035 GO_process GO:0021549 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021549 GO_process GO:0021987 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021987 GO_process GO:0046654 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046654 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:0016874 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016874 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GOslim_process GO:0006520 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520 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: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 Gene3D 3.30.1330.10 http://www.cathdb.info/version/latest/superfamily/3.30.1330.10 Gene3D 3.30.1490.20 http://www.cathdb.info/version/latest/superfamily/3.30.1490.20 Gene3D 3.30.470.20 http://www.cathdb.info/version/latest/superfamily/3.30.470.20 Gene3D 3.40.50.170 http://www.cathdb.info/version/latest/superfamily/3.40.50.170 Gene3D 3.40.50.20 http://www.cathdb.info/version/latest/superfamily/3.40.50.20 Gene3D 3.90.600.10 http://www.cathdb.info/version/latest/superfamily/3.90.600.10 Gene3D 3.90.650.10 http://www.cathdb.info/version/latest/superfamily/3.90.650.10 GeneCards GART http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GART GeneID 2618 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2618 GeneTree ENSGT00390000000292 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000000292 HAMAP MF_00138 http://hamap.expasy.org/unirule/MF_00138 HAMAP MF_00741 http://hamap.expasy.org/unirule/MF_00741 HAMAP MF_01930 http://hamap.expasy.org/unirule/MF_01930 HGNC HGNC:4163 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4163 HOVERGEN HBG008333 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008333&db=HOVERGEN HPA HPA002119 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA002119 HPA HPA005779 http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA005779 InParanoid P22102 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P22102 IntAct P22102 http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P22102* IntEnz 2.1.2.2 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.1.2.2 IntEnz 6.3.3.1 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=6.3.3.1 IntEnz 6.3.4.13 http://www.ebi.ac.uk/intenz/query?cmd=Search&q=6.3.4.13 InterPro IPR000115 http://www.ebi.ac.uk/interpro/entry/IPR000115 InterPro IPR001555 http://www.ebi.ac.uk/interpro/entry/IPR001555 InterPro IPR002376 http://www.ebi.ac.uk/interpro/entry/IPR002376 InterPro IPR004607 http://www.ebi.ac.uk/interpro/entry/IPR004607 InterPro IPR004733 http://www.ebi.ac.uk/interpro/entry/IPR004733 InterPro IPR010918 http://www.ebi.ac.uk/interpro/entry/IPR010918 InterPro IPR011054 http://www.ebi.ac.uk/interpro/entry/IPR011054 InterPro IPR011761 http://www.ebi.ac.uk/interpro/entry/IPR011761 InterPro IPR013815 http://www.ebi.ac.uk/interpro/entry/IPR013815 InterPro IPR013816 http://www.ebi.ac.uk/interpro/entry/IPR013816 InterPro IPR016185 http://www.ebi.ac.uk/interpro/entry/IPR016185 InterPro IPR016188 http://www.ebi.ac.uk/interpro/entry/IPR016188 InterPro IPR020559 http://www.ebi.ac.uk/interpro/entry/IPR020559 InterPro IPR020560 http://www.ebi.ac.uk/interpro/entry/IPR020560 InterPro IPR020561 http://www.ebi.ac.uk/interpro/entry/IPR020561 InterPro IPR020562 http://www.ebi.ac.uk/interpro/entry/IPR020562 Jabion 2618 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2618 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:2618 http://www.genome.jp/dbget-bin/www_bget?hsa:2618 KEGG_Orthology KO:K11787 http://www.genome.jp/dbget-bin/www_bget?KO:K11787 KEGG_Pathway ko00230 http://www.genome.jp/kegg-bin/show_pathway?ko00230 KEGG_Pathway ko00670 http://www.genome.jp/kegg-bin/show_pathway?ko00670 KEGG_Reaction rn:R04144 http://www.genome.jp/dbget-bin/www_bget?rn:R04144 KEGG_Reaction rn:R04208 http://www.genome.jp/dbget-bin/www_bget?rn:R04208 KEGG_Reaction rn:R04325 http://www.genome.jp/dbget-bin/www_bget?rn:R04325 KEGG_Reaction rn:R04326 http://www.genome.jp/dbget-bin/www_bget?rn:R04326 MIM 138440 http://www.ncbi.nlm.nih.gov/omim/138440 MINT MINT-1143007 http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1143007 OMA YRTDIAQ http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YRTDIAQ OrthoDB EOG091G026D http://cegg.unige.ch/orthodb/results?searchtext=EOG091G026D PDB 1MEJ http://www.ebi.ac.uk/pdbe-srv/view/entry/1MEJ PDB 1MEN http://www.ebi.ac.uk/pdbe-srv/view/entry/1MEN PDB 1MEO http://www.ebi.ac.uk/pdbe-srv/view/entry/1MEO PDB 1NJS http://www.ebi.ac.uk/pdbe-srv/view/entry/1NJS PDB 1RBM http://www.ebi.ac.uk/pdbe-srv/view/entry/1RBM PDB 1RBQ http://www.ebi.ac.uk/pdbe-srv/view/entry/1RBQ PDB 1RBY http://www.ebi.ac.uk/pdbe-srv/view/entry/1RBY PDB 1RBZ http://www.ebi.ac.uk/pdbe-srv/view/entry/1RBZ PDB 1RC0 http://www.ebi.ac.uk/pdbe-srv/view/entry/1RC0 PDB 1RC1 http://www.ebi.ac.uk/pdbe-srv/view/entry/1RC1 PDB 1ZLX http://www.ebi.ac.uk/pdbe-srv/view/entry/1ZLX PDB 1ZLY http://www.ebi.ac.uk/pdbe-srv/view/entry/1ZLY PDB 2QK4 http://www.ebi.ac.uk/pdbe-srv/view/entry/2QK4 PDB 2V9Y http://www.ebi.ac.uk/pdbe-srv/view/entry/2V9Y PDB 4EW1 http://www.ebi.ac.uk/pdbe-srv/view/entry/4EW1 PDB 4EW2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4EW2 PDB 4EW3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4EW3 PDB 4ZYT http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZYT PDB 4ZYU http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZYU PDB 4ZYV http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZYV PDB 4ZYW http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZYW PDB 4ZYX http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZYX PDB 4ZYY http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZYY PDB 4ZYZ http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZYZ PDB 4ZZ0 http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZZ0 PDB 4ZZ1 http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZZ1 PDB 4ZZ2 http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZZ2 PDB 4ZZ3 http://www.ebi.ac.uk/pdbe-srv/view/entry/4ZZ3 PDB 5J9F http://www.ebi.ac.uk/pdbe-srv/view/entry/5J9F PDBsum 1MEJ http://www.ebi.ac.uk/pdbsum/1MEJ PDBsum 1MEN http://www.ebi.ac.uk/pdbsum/1MEN PDBsum 1MEO http://www.ebi.ac.uk/pdbsum/1MEO PDBsum 1NJS http://www.ebi.ac.uk/pdbsum/1NJS PDBsum 1RBM http://www.ebi.ac.uk/pdbsum/1RBM PDBsum 1RBQ http://www.ebi.ac.uk/pdbsum/1RBQ PDBsum 1RBY http://www.ebi.ac.uk/pdbsum/1RBY PDBsum 1RBZ http://www.ebi.ac.uk/pdbsum/1RBZ PDBsum 1RC0 http://www.ebi.ac.uk/pdbsum/1RC0 PDBsum 1RC1 http://www.ebi.ac.uk/pdbsum/1RC1 PDBsum 1ZLX http://www.ebi.ac.uk/pdbsum/1ZLX PDBsum 1ZLY http://www.ebi.ac.uk/pdbsum/1ZLY PDBsum 2QK4 http://www.ebi.ac.uk/pdbsum/2QK4 PDBsum 2V9Y http://www.ebi.ac.uk/pdbsum/2V9Y PDBsum 4EW1 http://www.ebi.ac.uk/pdbsum/4EW1 PDBsum 4EW2 http://www.ebi.ac.uk/pdbsum/4EW2 PDBsum 4EW3 http://www.ebi.ac.uk/pdbsum/4EW3 PDBsum 4ZYT http://www.ebi.ac.uk/pdbsum/4ZYT PDBsum 4ZYU http://www.ebi.ac.uk/pdbsum/4ZYU PDBsum 4ZYV http://www.ebi.ac.uk/pdbsum/4ZYV PDBsum 4ZYW http://www.ebi.ac.uk/pdbsum/4ZYW PDBsum 4ZYX http://www.ebi.ac.uk/pdbsum/4ZYX PDBsum 4ZYY http://www.ebi.ac.uk/pdbsum/4ZYY PDBsum 4ZYZ http://www.ebi.ac.uk/pdbsum/4ZYZ PDBsum 4ZZ0 http://www.ebi.ac.uk/pdbsum/4ZZ0 PDBsum 4ZZ1 http://www.ebi.ac.uk/pdbsum/4ZZ1 PDBsum 4ZZ2 http://www.ebi.ac.uk/pdbsum/4ZZ2 PDBsum 4ZZ3 http://www.ebi.ac.uk/pdbsum/4ZZ3 PDBsum 5J9F http://www.ebi.ac.uk/pdbsum/5J9F PROSITE PS00184 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00184 PROSITE PS00373 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00373 PROSITE PS50975 http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50975 PSORT swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:PUR2_HUMAN PSORT-B swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:PUR2_HUMAN PSORT2 swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:PUR2_HUMAN Pfam PF00551 http://pfam.xfam.org/family/PF00551 Pfam PF00586 http://pfam.xfam.org/family/PF00586 Pfam PF01071 http://pfam.xfam.org/family/PF01071 Pfam PF02769 http://pfam.xfam.org/family/PF02769 Pfam PF02843 http://pfam.xfam.org/family/PF02843 Pfam PF02844 http://pfam.xfam.org/family/PF02844 PharmGKB PA28576 http://www.pharmgkb.org/do/serve?objId=PA28576&objCls=Gene Phobius swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:PUR2_HUMAN PhylomeDB P22102 http://phylomedb.org/?seqid=P22102 ProteinModelPortal P22102 http://www.proteinmodelportal.org/query/uniprot/P22102 PubMed 12450384 http://www.ncbi.nlm.nih.gov/pubmed/12450384 PubMed 12755606 http://www.ncbi.nlm.nih.gov/pubmed/12755606 PubMed 14702039 http://www.ncbi.nlm.nih.gov/pubmed/14702039 PubMed 15489334 http://www.ncbi.nlm.nih.gov/pubmed/15489334 PubMed 15592455 http://www.ncbi.nlm.nih.gov/pubmed/15592455 PubMed 16026156 http://www.ncbi.nlm.nih.gov/pubmed/16026156 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 2147474 http://www.ncbi.nlm.nih.gov/pubmed/2147474 PubMed 2183217 http://www.ncbi.nlm.nih.gov/pubmed/2183217 PubMed 23186163 http://www.ncbi.nlm.nih.gov/pubmed/23186163 PubMed 24275569 http://www.ncbi.nlm.nih.gov/pubmed/24275569 PubMed 9224613 http://www.ncbi.nlm.nih.gov/pubmed/9224613 Reactome R-HSA-73817 http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-73817 RefSeq NP_000810 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000810 RefSeq NP_001129477 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129477 RefSeq NP_001129478 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001129478 RefSeq NP_780294 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_780294 RefSeq XP_005260998 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005260998 RefSeq XP_006724052 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006724052 RefSeq XP_006724053 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006724053 RefSeq XP_011527828 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011527828 SMART SM01210 http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM01210 SMR P22102 http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P22102 STRING 9606.ENSP00000371236 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000371236&targetmode=cogs SUPFAM SSF51246 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51246 SUPFAM SSF52440 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52440 SUPFAM SSF53328 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53328 SUPFAM SSF56042 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF56042 TIGRFAMs TIGR00639 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00639 TIGRFAMs TIGR00877 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00877 TIGRFAMs TIGR00878 http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00878 UCSC uc002yrx http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002yrx&org=rat UniGene Hs.473648 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.473648 UniProtKB PUR2_HUMAN http://www.uniprot.org/uniprot/PUR2_HUMAN UniProtKB-AC P22102 http://www.uniprot.org/uniprot/P22102 charge swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/charge/swissprot:PUR2_HUMAN eggNOG COG0150 http://eggnogapi.embl.de/nog_data/html/tree/COG0150 eggNOG COG0151 http://eggnogapi.embl.de/nog_data/html/tree/COG0151 eggNOG COG0299 http://eggnogapi.embl.de/nog_data/html/tree/COG0299 eggNOG KOG0237 http://eggnogapi.embl.de/nog_data/html/tree/KOG0237 eggNOG KOG3076 http://eggnogapi.embl.de/nog_data/html/tree/KOG3076 epestfind swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:PUR2_HUMAN garnier swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:PUR2_HUMAN helixturnhelix swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:PUR2_HUMAN hmoment swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:PUR2_HUMAN iep swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/iep/swissprot:PUR2_HUMAN inforesidue swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:PUR2_HUMAN neXtProt NX_P22102 http://www.nextprot.org/db/entry/NX_P22102 octanol swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:PUR2_HUMAN pepcoil swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:PUR2_HUMAN pepdigest swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:PUR2_HUMAN pepinfo swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:PUR2_HUMAN pepnet swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:PUR2_HUMAN pepstats swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:PUR2_HUMAN pepwheel swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:PUR2_HUMAN pepwindow swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:PUR2_HUMAN sigcleave swissprot:PUR2_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:PUR2_HUMAN ## Database ID URL or Descriptions # AltName C2C4A_HUMAN Nuclear-localized factor 1 # AltName C2C4A_HUMAN Protein FAM148A # Ensembl ENST00000355522 ENSP00000347712; ENSG00000198535 # FUNCTION C2C4A_HUMAN May be involved in inflammatory process. May regulate cell architecture and adhesion. {ECO 0000269|PubMed 15527968}. # GO_component GO:0005634 nucleus; IEA:UniProtKB-SubCell. # GO_component GO:0005886 plasma membrane; IBA:GO_Central. # GO_function GO:0005509 calcium ion binding; IBA:GO_Central. # GO_function GO:0005544 calcium-dependent phospholipid binding; IBA:GO_Central. # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005886 plasma membrane # GOslim_function GO:0008289 lipid binding # GOslim_function GO:0043167 ion binding # Genevisible Q8NCU7 HS # HGNC HGNC:33627 C2CD4A # INDUCTION Up-regulated by pro-inflammatory cytokines. {ECO:0000269|PubMed 15527968}. # InterPro IPR000008 C2_dom # MIM 610343 gene # Organism C2C4A_HUMAN Homo sapiens (Human) # Proteomes UP000005640 Chromosome 15 # RecName C2C4A_HUMAN C2 calcium-dependent domain-containing protein 4A # RefSeq NP_997205 NM_207322.2 # SIMILARITY Belongs to the C2CD4 family. {ECO 0000305}. # SIMILARITY Contains 1 C2 domain. {ECO 0000305}. # SUBCELLULAR LOCATION C2C4A_HUMAN Nucleus {ECO 0000269|PubMed 15527968}. # SUPFAM SSF49562 SSF49562 # TISSUE SPECIFICITY Specifically expressed in endothelial cells. {ECO:0000269|PubMed 15527968}. # UCSC uc002ahf human # eggNOG ENOG410IW5P Eukaryota # eggNOG ENOG41113FH LUCA BLAST swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:C2C4A_HUMAN BioCyc ZFISH:G66-33638-MONOMER http://biocyc.org/getid?id=ZFISH:G66-33638-MONOMER COXPRESdb 145741 http://coxpresdb.jp/data/gene/145741.shtml CleanEx HS_FAM148A http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_FAM148A DOI 10.1016/j.gene.2004.07.027 http://dx.doi.org/10.1016/j.gene.2004.07.027 DOI 10.1038/nature04601 http://dx.doi.org/10.1038/nature04601 EMBL AC104590 http://www.ebi.ac.uk/ena/data/view/AC104590 EMBL AF504646 http://www.ebi.ac.uk/ena/data/view/AF504646 Ensembl ENST00000355522 http://www.ensembl.org/id/ENST00000355522 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_function GO:0005509 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509 GO_function GO:0005544 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005544 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:0008289 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289 GOslim_function GO:0043167 http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167 GeneCards C2CD4A http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=C2CD4A GeneID 145741 http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=145741 GeneTree ENSGT00530000063888 http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063888 H-InvDB HIX0026785 http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0026785 HGNC HGNC:33627 http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:33627 HOGENOM HOG000060308 http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060308&db=HOGENOM6 HOVERGEN HBG067228 http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG067228&db=HOVERGEN InParanoid Q8NCU7 http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NCU7 InterPro IPR000008 http://www.ebi.ac.uk/interpro/entry/IPR000008 Jabion 145741 http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=145741 KEGG_Gene hsa:145741 http://www.genome.jp/dbget-bin/www_bget?hsa:145741 MIM 610343 http://www.ncbi.nlm.nih.gov/omim/610343 OMA DWLLPGR http://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DWLLPGR OrthoDB EOG091G0HX3 http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0HX3 PSORT swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/kpsort/swissprot:C2C4A_HUMAN PSORT-B swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/kpsortb/swissprot:C2C4A_HUMAN PSORT2 swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/kpsort2/swissprot:C2C4A_HUMAN PharmGKB PA165478510 http://www.pharmgkb.org/do/serve?objId=PA165478510&objCls=Gene Phobius swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/kphobius/swissprot:C2C4A_HUMAN PhylomeDB Q8NCU7 http://phylomedb.org/?seqid=Q8NCU7 ProteinModelPortal Q8NCU7 http://www.proteinmodelportal.org/query/uniprot/Q8NCU7 PubMed 15527968 http://www.ncbi.nlm.nih.gov/pubmed/15527968 PubMed 16572171 http://www.ncbi.nlm.nih.gov/pubmed/16572171 RefSeq NP_997205 http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997205 STRING 9606.ENSP00000347712 http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000347712&targetmode=cogs SUPFAM SSF49562 http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49562 UCSC uc002ahf http://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ahf&org=rat UniGene Hs.202656 http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.202656 UniProtKB C2C4A_HUMAN http://www.uniprot.org/uniprot/C2C4A_HUMAN UniProtKB-AC Q8NCU7 http://www.uniprot.org/uniprot/Q8NCU7 charge swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/charge/swissprot:C2C4A_HUMAN eggNOG ENOG410IW5P http://eggnogapi.embl.de/nog_data/html/tree/ENOG410IW5P eggNOG ENOG41113FH http://eggnogapi.embl.de/nog_data/html/tree/ENOG41113FH epestfind swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/epestfind/swissprot:C2C4A_HUMAN garnier swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/garnier/swissprot:C2C4A_HUMAN helixturnhelix swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/helixturnhelix/swissprot:C2C4A_HUMAN hmoment swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/hmoment/swissprot:C2C4A_HUMAN iep swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/iep/swissprot:C2C4A_HUMAN inforesidue swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/inforesidue/swissprot:C2C4A_HUMAN neXtProt NX_Q8NCU7 http://www.nextprot.org/db/entry/NX_Q8NCU7 octanol swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/octanol/swissprot:C2C4A_HUMAN pepcoil swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/pepcoil/swissprot:C2C4A_HUMAN pepdigest swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/pepdigest/swissprot:C2C4A_HUMAN pepinfo swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/pepinfo/swissprot:C2C4A_HUMAN pepnet swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/pepnet/swissprot:C2C4A_HUMAN pepstats swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/pepstats/swissprot:C2C4A_HUMAN pepwheel swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/pepwheel/swissprot:C2C4A_HUMAN pepwindow swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/pepwindow/swissprot:C2C4A_HUMAN sigcleave swissprot:C2C4A_HUMAN http://rest.g-language.org/emboss/sigcleave/swissprot:C2C4A_HUMAN ## Database ID URL or Descriptions # ALTERNATIVE PRODUCTS MECP2_HUMAN Event=Alternative splicing; Named isoforms=2; Name=A; Synonyms=Beta; IsoId=P51608-1; Sequence=Displayed; Name=B; Synonyms=Alpha; IsoId=P51608-2; Sequence=VSP_022948; Note=Ten times higher expression levels than isoform A in brain.; # BioGrid 110368 157 # CCDS CCDS14741 -. [P51608-1] # CCDS CCDS48193 -. [P51608-2] # ChiTaRS MECP2 human # DISEASE MECP2_HUMAN Angelman syndrome (AS) [MIM 105830] A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue. {ECO 0000269|PubMed 11283202}. Note=The disease may be caused by mutations affecting the gene represented in this entry. # DISEASE MECP2_HUMAN Autism, X-linked 3 (AUTSX3) [MIM 300496] 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. {ECO 0000269|PubMed 12770674}. Note=The disease may be caused by mutations affecting the gene represented in this entry. # DISEASE MECP2_HUMAN Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM 300673] A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements. {ECO 0000269|PubMed 11238684}. Note=The disease is caused by mutations affecting the gene represented in this entry. The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations. # DISEASE MECP2_HUMAN Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM 300055] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism. {ECO 0000269|PubMed 10986043, ECO 0000269|PubMed 11007980, ECO 0000269|PubMed 11309367, ECO 0000269|PubMed 11805248, ECO 0000269|PubMed 11885030, ECO 0000269|PubMed 12161600, ECO 0000269|PubMed 12325019, ECO 0000269|PubMed 12615169, ECO 0000269|PubMed 16966553}. Note=The disease is caused by mutations affecting the gene represented in this entry. # DISEASE MECP2_HUMAN Mental retardation, X-linked, syndromic, Lubs type (MRXSL) [MIM 300260] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. {ECO 0000269|PubMed 16080119}. Note=The disease is caused by mutations affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype. # DISEASE MECP2_HUMAN Rett syndrome (RTT) [MIM 312750] An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. {ECO 0000269|PubMed 10508514, ECO 0000269|PubMed 10577905, ECO 0000269|PubMed 10745042, ECO 0000269|PubMed 10767337, ECO 0000269|PubMed 10814719, ECO 0000269|PubMed 10944854, ECO 0000269|PubMed 10991688, ECO 0000269|PubMed 10991689, ECO 0000269|PubMed 11055898, ECO 0000269|PubMed 11241840, ECO 0000269|PubMed 11269512, ECO 0000269|PubMed 11283202, ECO 0000269|PubMed 11376998, ECO 0000269|PubMed 11402105, ECO 0000269|PubMed 11706982, ECO 0000269|PubMed 11738883, ECO 0000269|PubMed 12161600, ECO 0000269|PubMed 12567420, ECO 0000269|PubMed 12966522, ECO 0000269|PubMed 12966523, ECO 0000269|PubMed 15034579, ECO 0000269|PubMed 15057977}. Note=The disease is caused by mutations affecting the gene represented in this entry. # Ensembl ENST00000303391 ENSP00000301948; ENSG00000169057. [P51608-1] # Ensembl ENST00000453960 ENSP00000395535; ENSG00000169057. [P51608-2] # ExpressionAtlas P51608 baseline and differential # FUNCTION MECP2_HUMAN Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC). {ECO 0000250|UniProtKB Q9Z2D6}. # GO_component GO:0000792 heterochromatin; IDA:UniProtKB. # GO_component GO:0005615 extracellular space; IDA:UniProtKB. # GO_component GO:0005634 nucleus; IDA:UniProtKB. # GO_component GO:0005739 mitochondrion; IEA:GOC. # GO_component GO:0005829 cytosol; IBA:GO_Central. # GO_component GO:0098794 postsynapse; IEA:GOC. # GO_function GO:0003677 DNA binding; TAS:ProtInc. # GO_function GO:0003682 chromatin binding; IEA:Ensembl. # GO_function GO:0003700 transcription factor activity, sequence-specific DNA binding; IEA:Ensembl. # GO_function GO:0003714 transcription corepressor activity; TAS:ProtInc. # GO_function GO:0003729 mRNA binding; IEA:Ensembl. # GO_function GO:0008327 methyl-CpG binding; IBA:GO_Central. # GO_function GO:0010385 double-stranded methylated DNA binding; IMP:MGI. # GO_function GO:0019904 protein domain specific binding; IPI:UniProtKB. # GO_function GO:0035197 siRNA binding; IEA:Ensembl. # GO_function GO:0044822 poly(A) RNA binding; IDA:UniProtKB. # GO_function GO:0047485 protein N-terminus binding; IPI:UniProtKB. # GO_process GO:0000122 negative regulation of transcription from RNA polymerase II promoter; TAS:ProtInc. # GO_process GO:0001662 behavioral fear response; IEA:Ensembl. # GO_process GO:0001666 response to hypoxia; IEA:Ensembl. # GO_process GO:0001964 startle response; IEA:Ensembl. # GO_process GO:0001976 neurological system process involved in regulation of systemic arterial blood pressure; IEA:Ensembl. # GO_process GO:0002087 regulation of respiratory gaseous exchange by neurological system process; IEA:Ensembl. # GO_process GO:0006020 inositol metabolic process; IEA:Ensembl. # GO_process GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c; IEA:Ensembl. # GO_process GO:0006342 chromatin silencing; IEA:Ensembl. # GO_process GO:0006349 regulation of gene expression by genetic imprinting; IEA:Ensembl. # GO_process GO:0006351 transcription, DNA-templated; IEA:UniProtKB-KW. # GO_process GO:0006541 glutamine metabolic process; IEA:Ensembl. # GO_process GO:0006576 cellular biogenic amine metabolic process; IEA:Ensembl. # GO_process GO:0007416 synapse assembly; IEA:Ensembl. # GO_process GO:0007585 respiratory gaseous exchange; IEA:Ensembl. # GO_process GO:0007616 long-term memory; IEA:Ensembl. # GO_process GO:0007626 locomotory behavior; IBA:GO_Central. # GO_process GO:0008104 protein localization; IEA:Ensembl. # GO_process GO:0008211 glucocorticoid metabolic process; IEA:Ensembl. # GO_process GO:0008284 positive regulation of cell proliferation; IEA:Ensembl. # GO_process GO:0008344 adult locomotory behavior; IEA:Ensembl. # GO_process GO:0008542 visual learning; IEA:Ensembl. # GO_process GO:0009314 response to radiation; IBA:GO_Central. # GO_process GO:0009405 pathogenesis; IEA:Ensembl. # GO_process GO:0009791 post-embryonic development; IEA:Ensembl. # GO_process GO:0016358 dendrite development; IEA:Ensembl. # GO_process GO:0016571 histone methylation; IEA:Ensembl. # GO_process GO:0016573 histone acetylation; IEA:Ensembl. # GO_process GO:0019230 proprioception; IEA:Ensembl. # GO_process GO:0019233 sensory perception of pain; IEA:Ensembl. # GO_process GO:0021549 cerebellum development; IEA:Ensembl. # GO_process GO:0021591 ventricular system development; IEA:Ensembl. # GO_process GO:0031061 negative regulation of histone methylation; IEA:Ensembl. # GO_process GO:0032048 cardiolipin metabolic process; IEA:Ensembl. # GO_process GO:0035067 negative regulation of histone acetylation; IEA:Ensembl. # GO_process GO:0035176 social behavior; IEA:Ensembl. # GO_process GO:0042551 neuron maturation; IEA:Ensembl. # GO_process GO:0043524 negative regulation of neuron apoptotic process; IEA:Ensembl. # GO_process GO:0045892 negative regulation of transcription, DNA-templated; IDA:UniProtKB. # GO_process GO:0045893 positive regulation of transcription, DNA-templated; IEA:Ensembl. # GO_process GO:0046470 phosphatidylcholine metabolic process; IEA:Ensembl. # GO_process GO:0050432 catecholamine secretion; IEA:Ensembl. # GO_process GO:0051965 positive regulation of synapse assembly; IEA:Ensembl. # GO_process GO:0060079 excitatory postsynaptic potential; IEA:Ensembl. # GO_process GO:0060291 long-term synaptic potentiation; IEA:Ensembl. # GOslim_component GO:0005575 cellular_component # GOslim_component GO:0005615 extracellular space # GOslim_component GO:0005634 nucleus # GOslim_component GO:0005739 mitochondrion # GOslim_component GO:0005829 cytosol # 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:0003677 DNA binding # GOslim_function GO:0003723 RNA binding # GOslim_function GO:0003729 mRNA 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:0006520 cellular amino acid metabolic 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:0009058 biosynthetic process # GOslim_process GO:0021700 developmental maturation # GOslim_process GO:0022607 cellular component assembly # 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 # Gene3D 3.30.890.10 -; 1. # Genevisible P51608 HS # HGNC HGNC:6990 MECP2 # INTERACTION MECP2_HUMAN Q9H2X6 HIPK2; NbExp=2; IntAct=EBI-1189067, EBI-348345; Q9QZR5 Hipk2 (xeno); NbExp=3; IntAct=EBI-1189067, EBI-366905; P61244 MAX; NbExp=2; IntAct=EBI-1189067, EBI-751711; P51531 SMARCA2; NbExp=4; IntAct=EBI-1189067, EBI-679562; # IntAct P51608 26 # InterPro IPR001739 Methyl_CpG_DNA-bd # InterPro IPR016177 DNA-bd_dom # InterPro IPR017353 Me_CpG-bd_MeCP2 # KEGG_Brite ko03036 Chromosome # KEGG_Disease H00440 [Neurodegenerative disease] Rett syndrome # KEGG_Disease H00478 [Developmental disorder] Prader-Willi syndrome (PWS) # KEGG_Disease H00480 [Congenital disorder; Mental retardation] Non-syndromic X-linked mental retardation # KEGG_Disease H01211 [Developmental disorder] MECP2-related severe neonatal encephalopathy # MIM 105830 phenotype # MIM 300005 gene # MIM 300055 phenotype # MIM 300260 phenotype # MIM 300496 phenotype # MIM 300673 phenotype # MIM 312750 phenotype # Organism MECP2_HUMAN Homo sapiens (Human) # Orphanet 106 Autism # Orphanet 1762 Trisomy Xq28 # Orphanet 209370 Severe neonatal-onset encephalopathy with microcephaly # Orphanet 3077 X-linked intellectual disability - psychosis - macroorchidism # Orphanet 3095 Atypical Rett syndrome # Orphanet 536 Systemic lupus erythematosus # Orphanet 777 X-linked non-syndromic intellectual disability # Orphanet 778 Rett syndrome # PDB 1QK9 NMR; -; A=77-166 # PDB 3C2I X-ray; 2.50 A; A=77-167 # PDB 5BT2 X-ray; 2.20 A; A=77-167 # PIRSF PIRSF038006 Methyl_CpG_bd_MeCP2 # PROSITE PS50982 MBD # PTM MECP2_HUMAN Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation. {ECO 0000250}. # Pfam PF01429 MBD # Proteomes UP000005640 Chromosome X # RecName MECP2_HUMAN Methyl-CpG-binding protein 2 # RefSeq NP_001104262 NM_001110792.1. [P51608-2] # RefSeq NP_001303266 NM_001316337.1 # RefSeq NP_004983 NM_004992.3. [P51608-1] # SEQUENCE CAUTION Sequence=CAD97991.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO 0000305}; # SIMILARITY Contains 1 MBD (methyl-CpG-binding) domain. {ECO:0000255|PROSITE-ProRule PRU00338}. # SIMILARITY Contains 2 A.T hook DNA-binding domains. {ECO 0000305}. # SMART SM00391 MBD # SUBCELLULAR LOCATION MECP2_HUMAN Nucleus. Note=Colocalized with methyl-CpG in the genome. # SUBUNIT MECP2_HUMAN Interacts with FNBP3 (By similarity). Interacts with CDKL5 (PubMed 15917271). Interacts with ATRX; MECP2 recruits ATRX to pericentric heterochromatin in neuronal cells (By similarity). Interacts with NCOR2 (By similarity). {ECO 0000250|UniProtKB Q9Z2D6, ECO 0000269|PubMed 15917271}. # SUPFAM SSF54171 SSF54171 # TISSUE SPECIFICITY MECP2_HUMAN Present in all adult somatic tissues tested. # UCSC uc004fjv human. [P51608-1] # WEB RESOURCE MECP2_HUMAN Name=RettBASE; Note=IRSA MECP2 variation database; URL="http //mecp2.chw.edu.au/mecp2/"; # eggNOG ENOG41126JX LUCA # eggNOG KOG4161 Eukaryota BLAST swissprot:MECP2_HUMAN http://rest.g-language.org/emboss/kblast/swissprot:MECP2_HUMAN BioCyc ZFISH:ENSG00000169057-MONOMER http://biocyc.org/getid?id=ZFISH:ENSG00000169057-MONOMER COXPRESdb 4204 http://coxpresdb.jp/data/gene/4204.shtml CleanEx HS_MECP2 http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MECP2 DIP DIP-39983N http://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-39983N DOI 10.1002/ajmg.a.10898 http://dx.doi.org/10.1002/ajmg.a.10898 DOI 10.1002/ajmg.a.20320 http://dx.doi.org/10.1002/ajmg.a.20320 DOI 10.1002/ajmg.a.20321 http://dx.doi.org/10.1002/ajmg.a.20321 DOI 10.1002/ajmg.a.20571 http://dx.doi.org/10.1002/ajmg.a.20571 DOI 10.1002/ana.1272 http://dx.doi.org/10.1002/ana.1272 DOI 10.1002/humu.10130 http://dx.doi.org/10.1002/humu.10130 DOI 10.1002/humu.10243 http://dx.doi.org/10.1002/humu.10243 DOI 10.1002/humu.3 http://dx.doi.org/10.1002/humu.3 DOI 10.1006/jmbi.1999.3023 http://dx.doi.org/10.1006/jmbi.1999.3023 DOI 10.1007/s001090000155 http://dx.doi.org/10.1007/s001090000155 DOI 10.1007/s003350010035 http://dx.doi.org/10.1007/s003350010035 DOI 10.1007/s003359900157 http://dx.doi.org/10.1007/s003359900157 DOI 10.1007/s00439-002-0786-3 http://dx.doi.org/10.1007/s00439-002-0786-3 DOI 10.1007/s100380070032 http://dx.doi.org/10.1007/s100380070032 DOI 10.1016/S0014-5793(00)01994-3 http://dx.doi.org/10.1016/S0014-5793(00)01994-3 DOI 10.1016/S0387-7604(01)00197-8 http://dx.doi.org/10.1016/S0387-7604(01)00197-8 DOI 10.1016/S0387-7604(01)00342-4 http://dx.doi.org/10.1016/S0387-7604(01)00342-4 DOI 10.1016/S0887-8994(02)00624-0 http://dx.doi.org/10.1016/S0887-8994(02)00624-0 DOI 10.1016/S1090-3798(02)00134-4 http://dx.doi.org/10.1016/S1090-3798(02)00134-4 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/pr300630k http://dx.doi.org/10.1021/pr300630k DOI 10.1021/pr800500r http://dx.doi.org/10.1021/pr800500r DOI 10.1038/13810 http://dx.doi.org/10.1038/13810 DOI 10.1038/nature03440 http://dx.doi.org/10.1038/nature03440 DOI 10.1038/ng1327 http://dx.doi.org/10.1038/ng1327 DOI 10.1038/sj.ejhg.5200761 http://dx.doi.org/10.1038/sj.ejhg.5200761 DOI 10.1038/sj.ejhg.5200836 http://dx.doi.org/10.1038/sj.ejhg.5200836 DOI 10.1073/pnas.0608056104 http://dx.doi.org/10.1073/pnas.0608056104 DOI 10.1073/pnas.0805139105 http://dx.doi.org/10.1073/pnas.0805139105 DOI 10.1086/302690 http://dx.doi.org/10.1086/302690 DOI 10.1086/303078 http://dx.doi.org/10.1086/303078 DOI 10.1086/316913 http://dx.doi.org/10.1086/316913 DOI 10.1086/339553 http://dx.doi.org/10.1086/339553 DOI 10.1086/444549 http