DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSSEN54_HUMANEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7Z6J9-1; Sequence=Displayed; Name=2; IsoId=Q7Z6J9-2; Sequence=VSP_010988, VSP_010989; Note=No experimental confirmation available.;
# AltNameSEN54_HUMANSEN54 homolog
# AltNameSEN54_HUMANtRNA-intron endonuclease Sen54
# BioGrid12972111
# CCDSCCDS11724-. [Q7Z6J9-1]
# ChiTaRSTSEN54human
# DISEASESEN54_HUMANPontocerebellar hypoplasia 2A (PCH2A) [MIM 277470] A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. {ECO 0000269|PubMed 18711368, ECO 0000269|PubMed 23307886}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DISEASESEN54_HUMANPontocerebellar hypoplasia 4 (PCH4) [MIM 225753] A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis. {ECO 0000269|PubMed 18711368, ECO 0000269|PubMed 21824568}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DISEASESEN54_HUMANPontocerebellar hypoplasia 5 (PCH5) [MIM 610204] A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. {ECO 0000269|PubMed 21368912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# EnsemblENST00000333213ENSP00000327487; ENSG00000182173. [Q7Z6J9-1]
# ExpressionAtlasQ7Z6J9baseline and differential
# FUNCTIONSEN54_HUMANNon-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events. {ECO 0000269|PubMed 15109492}.
# GO_componentGO:0000214tRNA-intron endonuclease complex; IBA:GO_Central.
# GO_componentGO:0005654nucleoplasm; TAS:Reactome.
# GO_componentGO:0005730nucleolus; IEA:UniProtKB-SubCell.
# GO_processGO:0000379tRNA-type intron splice site recognition and cleavage; IBA:GO_Central.
# GO_processGO:0006388tRNA splicing, via endonucleolytic cleavage and ligation; IDA:UniProtKB.
# GO_processGO:0006397mRNA processing; IEA:UniProtKB-KW.
# GO_processGO:0090502RNA phosphodiester bond hydrolysis, endonucleolytic; IEA:GOC.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005654nucleoplasm
# GOslim_componentGO:0005730nucleolus
# GOslim_processGO:0006397mRNA processing
# GOslim_processGO:0006399tRNA metabolic process
# GOslim_processGO:0034641cellular nitrogen compound metabolic process
# GenevisibleQ7Z6J9HS
# HGNCHGNC:27561TSEN54
# INTERACTIONSEN54_HUMANE9PL17 CLP1; NbExp=4; IntAct=EBI-2559824, EBI-11992862; Q8NCE0 TSEN2; NbExp=7; IntAct=EBI-2559824, EBI-2559818;
# IntActQ7Z6J912
# InterProIPR024336tRNA_splic_suSen54_N
# InterProIPR024337tRNA_splic_suSen54
# KEGG_Briteko03016Transfer RNA biogenesis
# KEGG_DiseaseH00897[Neurodegenerative disease; Developmental disorder] Pontocerebellar hypoplasia
# MIM225753phenotype
# MIM277470phenotype
# MIM608755gene
# MIM610204phenotype
# OrganismSEN54_HUMANHomo sapiens (Human)
# Orphanet166063Pontocerebellar hypoplasia type 4
# Orphanet166068Pontocerebellar hypoplasia type 5
# Orphanet2254Pontocerebellar hypoplasia type 1
# Orphanet2524Pontocerebellar hypoplasia type 2
# PANTHERPTHR21027PTHR21027; 3
# PfamPF12928tRNA_int_end_N2
# ProteomesUP000005640Chromosome 17
# ReactomeR-HSA-6784531tRNA processing in the nucleus
# RecNameSEN54_HUMANtRNA-splicing endonuclease subunit Sen54
# RefSeqNP_997229NM_207346.2. [Q7Z6J9-1]
# SEQUENCE CAUTIONSequence=AAH53643.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO0000305};
# SIMILARITYBelongs to the SEN54 family. {ECO0000305}.
# SUBCELLULAR LOCATIONSEN54_HUMANNucleus {ECO 0000305}. Nucleus, nucleolus {ECO 0000305}. Note=May be transiently localized in the nucleolus. {ECO 0000305}.
# SUBUNITSEN54_HUMANtRNA splicing endonuclease is a heterotetramer composed of SEN2, SEN15, SEN34/LENG5 and SEN54. tRNA splicing endonuclease complex also contains proteins of the pre-mRNA 3'-end processing machinery such as CLP1, CPSF1, CPSF4 and CSTF2. Also belongs to a complex containing isoform 2 of SEN2.
# UCSCuc002jofhuman. [Q7Z6J9-1]
# eggNOGENOG4111KNCLUCA
# eggNOGKOG4772Eukaryota
BLASTswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:SEN54_HUMAN
BioCycZFISH:HS11953-MONOMERhttp://biocyc.org/getid?id=ZFISH:HS11953-MONOMER
COXPRESdb283989http://coxpresdb.jp/data/gene/283989.shtml
CleanExHS_TSEN54http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TSEN54
DOI10.1016/S0092-8674(04)00342-3http://dx.doi.org/10.1016/S0092-8674(04)00342-3
DOI10.1016/j.pediatrneurol.2011.05.009http://dx.doi.org/10.1016/j.pediatrneurol.2011.05.009
DOI10.1021/ac9004309http://dx.doi.org/10.1021/ac9004309
DOI10.1021/pr300630khttp://dx.doi.org/10.1021/pr300630k
DOI10.1038/ejhg.2011.8http://dx.doi.org/10.1038/ejhg.2011.8
DOI10.1038/nature04689http://dx.doi.org/10.1038/nature04689
DOI10.1038/ng.204http://dx.doi.org/10.1038/ng.204
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1073/pnas.0805139105http://dx.doi.org/10.1073/pnas.0805139105
DOI10.1073/pnas.1210303109http://dx.doi.org/10.1073/pnas.1210303109
DOI10.1074/mcp.O113.027870http://dx.doi.org/10.1074/mcp.O113.027870
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1126/scisignal.2000475http://dx.doi.org/10.1126/scisignal.2000475
DOI10.1177/0883073812470002http://dx.doi.org/10.1177/0883073812470002
DOI10.3892/mmr.2014.2342http://dx.doi.org/10.3892/mmr.2014.2342
EMBLAC100787http://www.ebi.ac.uk/ena/data/view/AC100787
EMBLAK094466http://www.ebi.ac.uk/ena/data/view/AK094466
EMBLBC047793http://www.ebi.ac.uk/ena/data/view/BC047793
EMBLBC053643http://www.ebi.ac.uk/ena/data/view/BC053643
EnsemblENST00000333213http://www.ensembl.org/id/ENST00000333213
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0000214http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000214
GO_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GO_componentGO:0005730http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730
GO_processGO:0000379http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000379
GO_processGO:0006388http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006388
GO_processGO:0006397http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006397
GO_processGO:0090502http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090502
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GOslim_componentGO:0005730http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730
GOslim_processGO:0006397http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006397
GOslim_processGO:0006399http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006399
GOslim_processGO:0034641http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641
GeneCardsTSEN54http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TSEN54
GeneID283989http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=283989
GeneTreeENSGT00390000004214http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000004214
H-InvDBHIX0022516http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0022516
HGNCHGNC:27561http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:27561
HOGENOMHOG000049169http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000049169&db=HOGENOM6
HOVERGENHBG061211http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061211&db=HOVERGEN
HPAHPA053097http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA053097
InParanoidQ7Z6J9http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q7Z6J9
IntActQ7Z6J9http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q7Z6J9*
InterProIPR024336http://www.ebi.ac.uk/interpro/entry/IPR024336
InterProIPR024337http://www.ebi.ac.uk/interpro/entry/IPR024337
Jabion283989http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=283989
KEGG_Briteko03016http://www.genome.jp/dbget-bin/www_bget?ko03016
KEGG_DiseaseH00897http://www.genome.jp/dbget-bin/www_bget?H00897
KEGG_Genehsa:283989http://www.genome.jp/dbget-bin/www_bget?hsa:283989
KEGG_OrthologyKO:K15326http://www.genome.jp/dbget-bin/www_bget?KO:K15326
MIM225753http://www.ncbi.nlm.nih.gov/omim/225753
MIM277470http://www.ncbi.nlm.nih.gov/omim/277470
MIM608755http://www.ncbi.nlm.nih.gov/omim/608755
MIM610204http://www.ncbi.nlm.nih.gov/omim/610204
OMAAGKFWQThttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AGKFWQT
Orphanet166063http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=166063
Orphanet166068http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=166068
Orphanet2254http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2254
Orphanet2524http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2524
OrthoDBEOG091G0I1Phttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G0I1P
PANTHERPTHR21027http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21027
PSORT-Bswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:SEN54_HUMAN
PSORT2swissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:SEN54_HUMAN
PSORTswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:SEN54_HUMAN
PfamPF12928http://pfam.xfam.org/family/PF12928
PharmGKBPA142670692http://www.pharmgkb.org/do/serve?objId=PA142670692&objCls=Gene
Phobiusswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:SEN54_HUMAN
PhylomeDBQ7Z6J9http://phylomedb.org/?seqid=Q7Z6J9
ProteinModelPortalQ7Z6J9http://www.proteinmodelportal.org/query/uniprot/Q7Z6J9
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15109492http://www.ncbi.nlm.nih.gov/pubmed/15109492
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed16625196http://www.ncbi.nlm.nih.gov/pubmed/16625196
PubMed18669648http://www.ncbi.nlm.nih.gov/pubmed/18669648
PubMed18711368http://www.ncbi.nlm.nih.gov/pubmed/18711368
PubMed19413330http://www.ncbi.nlm.nih.gov/pubmed/19413330
PubMed20068231http://www.ncbi.nlm.nih.gov/pubmed/20068231
PubMed21368912http://www.ncbi.nlm.nih.gov/pubmed/21368912
PubMed21824568http://www.ncbi.nlm.nih.gov/pubmed/21824568
PubMed22814378http://www.ncbi.nlm.nih.gov/pubmed/22814378
PubMed23186163http://www.ncbi.nlm.nih.gov/pubmed/23186163
PubMed23307886http://www.ncbi.nlm.nih.gov/pubmed/23307886
PubMed24129315http://www.ncbi.nlm.nih.gov/pubmed/24129315
PubMed24938831http://www.ncbi.nlm.nih.gov/pubmed/24938831
ReactomeR-HSA-6784531http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6784531
RefSeqNP_997229http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_997229
STRING9606.ENSP00000327487http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000327487&targetmode=cogs
UCSCuc002jofhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002jof&org=rat
UniGeneHs.378501http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.378501
UniProtKB-ACQ7Z6J9http://www.uniprot.org/uniprot/Q7Z6J9
UniProtKBSEN54_HUMANhttp://www.uniprot.org/uniprot/SEN54_HUMAN
chargeswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:SEN54_HUMAN
eggNOGENOG4111KNChttp://eggnogapi.embl.de/nog_data/html/tree/ENOG4111KNC
eggNOGKOG4772http://eggnogapi.embl.de/nog_data/html/tree/KOG4772
epestfindswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:SEN54_HUMAN
garnierswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:SEN54_HUMAN
helixturnhelixswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:SEN54_HUMAN
hmomentswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:SEN54_HUMAN
iepswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:SEN54_HUMAN
inforesidueswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:SEN54_HUMAN
neXtProtNX_Q7Z6J9http://www.nextprot.org/db/entry/NX_Q7Z6J9
octanolswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:SEN54_HUMAN
pepcoilswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:SEN54_HUMAN
pepdigestswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:SEN54_HUMAN
pepinfoswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:SEN54_HUMAN
pepnetswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:SEN54_HUMAN
pepstatsswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:SEN54_HUMAN
pepwheelswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:SEN54_HUMAN
pepwindowswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:SEN54_HUMAN
sigcleaveswissprot:SEN54_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:SEN54_HUMAN
DataBaseIDURL or Descriptions
# AltNameP2Y12_HUMANADP-glucose receptor
# AltNameP2Y12_HUMANP2T(AC)
# AltNameP2Y12_HUMANP2Y(AC)
# AltNameP2Y12_HUMANP2Y(cyc)
# AltNameP2Y12_HUMANP2Y12 platelet ADP receptor
# AltNameP2Y12_HUMANSP1999
# BioGrid12230960
# DISEASEP2Y12_HUMANBleeding disorder, platelet-type 8 (BDPLT8) [MIM 609821] A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation. {ECO 0000269|PubMed 11196645, ECO 0000269|PubMed 12578987, ECO 0000269|PubMed 25428217}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DOMAINP2Y12_HUMANThe transmembrane domain is composed of seven transmembrane helices; most of these are not strictly perpendicular to the plane of the membrane, but are tilted and/or kinked. Agonist binding promotes a conformation change in the extracellular loops that leads to an inward movement of the transmembrane helices. Antagonists such as AZD1283 can bind to an overlapping site, but block the inward movement of the transmembrane helices (PubMed 24670650, PubMed 24784220). {ECO 0000269|PubMed 24670650, ECO 0000269|PubMed 24784220}.
# DrugBankDB00208Ticlopidine
# DrugBankDB00374Treprostinil
# DrugBankDB00758Clopidogrel
# DrugBankDB01240Epoprostenol
# DrugBankDB06209Prasugrel
# DrugBankDB06441Cangrelor
# DrugBankDB08816Ticagrelor
# EnsemblENST00000302632ENSP00000307259; ENSG00000169313
# FUNCTIONP2Y12_HUMANReceptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation. {ECO 0000269|PubMed 11104774, ECO 0000269|PubMed 11196645, ECO 0000269|PubMed 11502873, ECO 0000269|PubMed 12578987, ECO 0000269|PubMed 24670650, ECO 0000269|PubMed 24784220}.
# GO_componentGO:0005739mitochondrion; IEA:Ensembl.
# GO_componentGO:0005886plasma membrane; ISS:ParkinsonsUK-UCL.
# GO_componentGO:0005887integral component of plasma membrane; IBA:GO_Central.
# GO_componentGO:0005901caveola; IEA:Ensembl.
# GO_componentGO:0009897external side of plasma membrane; IEA:Ensembl.
# GO_componentGO:0009925basal plasma membrane; IEA:Ensembl.
# GO_componentGO:0009986cell surface; IDA:UniProtKB.
# GO_componentGO:0031224intrinsic component of membrane; IDA:UniProtKB.
# GO_functionGO:0001609G-protein coupled adenosine receptor activity; IEA:Ensembl.
# GO_functionGO:0001621ADP receptor activity; IDA:UniProtKB.
# GO_functionGO:0005085guanyl-nucleotide exchange factor activity; TAS:Reactome.
# GO_processGO:0006930substrate-dependent cell migration, cell extension; ISS:ParkinsonsUK-UCL.
# GO_processGO:0007186G-protein coupled receptor signaling pathway; IDA:UniProtKB.
# GO_processGO:0007193adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway; IMP:UniProtKB.
# GO_processGO:0007599hemostasis; NAS:UniProtKB.
# GO_processGO:0008347glial cell migration; IEA:Ensembl.
# GO_processGO:0010700negative regulation of norepinephrine secretion; IEA:Ensembl.
# GO_processGO:0043270positive regulation of ion transport; IEA:Ensembl.
# GO_processGO:0043491protein kinase B signaling; IEA:Ensembl.
# GO_processGO:0045596negative regulation of cell differentiation; IEA:Ensembl.
# GO_processGO:0051924regulation of calcium ion transport; IEA:Ensembl.
# GO_processGO:0070527platelet aggregation; IMP:UniProtKB.
# GO_processGO:0070588calcium ion transmembrane transport; IEA:Ensembl.
# GO_processGO:0071318cellular response to ATP; ISS:ParkinsonsUK-UCL.
# GO_processGO:0071805potassium ion transmembrane transport; IEA:Ensembl.
# GO_processGO:1904139regulation of microglial cell migration; ISS:ParkinsonsUK-UCL.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005739mitochondrion
# GOslim_componentGO:0005886plasma membrane
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0004871signal transducer activity
# GOslim_processGO:0007155cell adhesion
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0022607cellular component assembly
# GOslim_processGO:0048870cell motility
# GOslim_processGO:0055085transmembrane transport
# GenevisibleQ9H244HS
# HGNCHGNC:18124P2RY12
# InterProIPR000276GPCR_Rhodpsn
# InterProIPR005394P2Y12_rcpt
# InterProIPR017452GPCR_Rhodpsn_7TM
# KEGG_Briteko04030G protein-coupled receptors
# KEGG_DiseaseH01235[Hematologic disease] Bleeding disorder platelet-type
# MIM600515gene
# MIM609821phenotype
# OrganismP2Y12_HUMANHomo sapiens (Human)
# Orphanet240935Resistance to clopidogrel
# Orphanet36355P2Y12 defect
# PANTHERPTHR24233:SF0PTHR24233:SF0
# PDB1T78Model; -; A=1-337
# PDB1VZ1Model; -; A=1-337
# PDB1Y9CModel; -; A=1-342
# PDB4NTJX-ray; 2.62 A; A=2-342
# PDB4PXZX-ray; 2.50 A; A=2-342
# PDB4PY0X-ray; 3.10 A; A=2-342
# PRINTSPR00237GPCRRHODOPSN
# PRINTSPR01569P2Y12PRNCPTR
# PROSITEPS50262G_PROTEIN_RECEP_F1_2
# PfamPF000017tm_1
# ProteomesUP000005640Chromosome 3
# ReactomeR-HSA-392170ADP signalling through P2Y purinoceptor 12
# ReactomeR-HSA-417957P2Y receptors
# ReactomeR-HSA-418594G alpha (i) signalling events
# RecNameP2Y12_HUMANP2Y purinoceptor 12
# RefSeqNP_073625NM_022788.4
# RefSeqNP_795345NM_176876.2
# RefSeqXP_016862558XM_017007069.1
# SIMILARITYBelongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRulePRU00521}.
# SUBCELLULAR LOCATIONP2Y12_HUMANCell membrane {ECO 0000269|PubMed 11196645, ECO 0000269|PubMed 12578987, ECO 0000269|PubMed 24670650, ECO 0000269|PubMed 24784220}; Multi-pass membrane protein {ECO 0000269|PubMed 11196645, ECO 0000269|PubMed 12578987, ECO 0000269|PubMed 24670650, ECO 0000269|PubMed 24784220}.
# TISSUE SPECIFICITYP2Y12_HUMANHighly expressed in the platelets, lower levels in the brain. Lowest levels in the lung, appendix, pituitary and adrenal gland. Expressed in the spinal cord and in the fetal brain. {ECO 0000269|PubMed 11104774, ECO 0000269|PubMed 11196645, ECO 0000269|PubMed 11502873}.
# UCSCuc003eyxhuman
# eggNOGENOG410IFYDEukaryota
# eggNOGENOG410ZJD1LUCA
BLASTswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:P2Y12_HUMAN
BioCycZFISH:ENSG00000169313-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000169313-MONOMER
COXPRESdb64805http://coxpresdb.jp/data/gene/64805.shtml
CleanExHS_P2RY12http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_P2RY12
DIPDIP-61226Nhttp://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-61226N
DOI10.1016/S0014-5793(02)02775-8http://dx.doi.org/10.1016/S0014-5793(02)02775-8
DOI10.1038/35051599http://dx.doi.org/10.1038/35051599
DOI10.1038/nature13083http://dx.doi.org/10.1038/nature13083
DOI10.1038/nature13288http://dx.doi.org/10.1038/nature13288
DOI10.1073/pnas.0437879100http://dx.doi.org/10.1073/pnas.0437879100
DOI10.1074/jbc.M009718200http://dx.doi.org/10.1074/jbc.M009718200
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1182/blood-2013-07-517896http://dx.doi.org/10.1182/blood-2013-07-517896
DrugBankDB00208http://www.drugbank.ca/drugs/DB00208
DrugBankDB00374http://www.drugbank.ca/drugs/DB00374
DrugBankDB00758http://www.drugbank.ca/drugs/DB00758
DrugBankDB01240http://www.drugbank.ca/drugs/DB01240
DrugBankDB06209http://www.drugbank.ca/drugs/DB06209
DrugBankDB06441http://www.drugbank.ca/drugs/DB06441
DrugBankDB08816http://www.drugbank.ca/drugs/DB08816
EMBLAB052684http://www.ebi.ac.uk/ena/data/view/AB052684
EMBLAB083596http://www.ebi.ac.uk/ena/data/view/AB083596
EMBLAF310685http://www.ebi.ac.uk/ena/data/view/AF310685
EMBLAF313449http://www.ebi.ac.uk/ena/data/view/AF313449
EMBLAF321815http://www.ebi.ac.uk/ena/data/view/AF321815
EMBLAJ320495http://www.ebi.ac.uk/ena/data/view/AJ320495
EMBLAY136754http://www.ebi.ac.uk/ena/data/view/AY136754
EMBLBC017898http://www.ebi.ac.uk/ena/data/view/BC017898
EMBLCH471052http://www.ebi.ac.uk/ena/data/view/CH471052
EMBLCH471052http://www.ebi.ac.uk/ena/data/view/CH471052
EnsemblENST00000302632http://www.ensembl.org/id/ENST00000302632
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0005887http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887
GO_componentGO:0005901http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005901
GO_componentGO:0009897http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897
GO_componentGO:0009925http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009925
GO_componentGO:0009986http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986
GO_componentGO:0031224http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031224
GO_functionGO:0001609http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001609
GO_functionGO:0001621http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001621
GO_functionGO:0005085http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005085
GO_processGO:0006930http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006930
GO_processGO:0007186http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186
GO_processGO:0007193http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007193
GO_processGO:0007599http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007599
GO_processGO:0008347http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008347
GO_processGO:0010700http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010700
GO_processGO:0043270http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043270
GO_processGO:0043491http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043491
GO_processGO:0045596http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045596
GO_processGO:0051924http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051924
GO_processGO:0070527http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070527
GO_processGO:0070588http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070588
GO_processGO:0071318http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071318
GO_processGO:0071805http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071805
GO_processGO:1904139http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1904139
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0004871http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871
GOslim_processGO:0007155http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0022607http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607
GOslim_processGO:0048870http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870
GOslim_processGO:0055085http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085
GeneCardsP2RY12http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=P2RY12
GeneID64805http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=64805
GeneTreeENSGT00640000091213http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00640000091213
HGNCHGNC:18124http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:18124
HOGENOMHOG000273884http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000273884&db=HOGENOM6
HOVERGENHBG108228http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108228&db=HOVERGEN
HPAHPA013796http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA013796
HPAHPA014518http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA014518
InParanoidQ9H244http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9H244
InterProIPR000276http://www.ebi.ac.uk/interpro/entry/IPR000276
InterProIPR005394http://www.ebi.ac.uk/interpro/entry/IPR005394
InterProIPR017452http://www.ebi.ac.uk/interpro/entry/IPR017452
Jabion64805http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=64805
KEGG_Briteko04030http://www.genome.jp/dbget-bin/www_bget?ko04030
KEGG_DiseaseH01235http://www.genome.jp/dbget-bin/www_bget?H01235
KEGG_Genehsa:64805http://www.genome.jp/dbget-bin/www_bget?hsa:64805
KEGG_OrthologyKO:K04298http://www.genome.jp/dbget-bin/www_bget?KO:K04298
MIM600515http://www.ncbi.nlm.nih.gov/omim/600515
MIM609821http://www.ncbi.nlm.nih.gov/omim/609821
OMAIKVFIIIhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=IKVFIII
Orphanet240935http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=240935
Orphanet36355http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=36355
OrthoDBEOG091G0B3Hhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G0B3H
PANTHERPTHR24233:SF0http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24233:SF0
PDB1T78http://www.ebi.ac.uk/pdbe-srv/view/entry/1T78
PDB1VZ1http://www.ebi.ac.uk/pdbe-srv/view/entry/1VZ1
PDB1Y9Chttp://www.ebi.ac.uk/pdbe-srv/view/entry/1Y9C
PDB4NTJhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4NTJ
PDB4PXZhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4PXZ
PDB4PY0http://www.ebi.ac.uk/pdbe-srv/view/entry/4PY0
PDBsum1T78http://www.ebi.ac.uk/pdbsum/1T78
PDBsum1VZ1http://www.ebi.ac.uk/pdbsum/1VZ1
PDBsum1Y9Chttp://www.ebi.ac.uk/pdbsum/1Y9C
PDBsum4NTJhttp://www.ebi.ac.uk/pdbsum/4NTJ
PDBsum4PXZhttp://www.ebi.ac.uk/pdbsum/4PXZ
PDBsum4PY0http://www.ebi.ac.uk/pdbsum/4PY0
PRINTSPR00237http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00237
PRINTSPR01569http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01569
PROSITEPS50262http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50262
PSORT-Bswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:P2Y12_HUMAN
PSORT2swissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:P2Y12_HUMAN
PSORTswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:P2Y12_HUMAN
PfamPF00001http://pfam.xfam.org/family/PF00001
PharmGKBPA134971947http://www.pharmgkb.org/do/serve?objId=PA134971947&objCls=Gene
Phobiusswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:P2Y12_HUMAN
PhylomeDBQ9H244http://phylomedb.org/?seqid=Q9H244
ProteinModelPortalQ9H244http://www.proteinmodelportal.org/query/uniprot/Q9H244
PubMed11104774http://www.ncbi.nlm.nih.gov/pubmed/11104774
PubMed11196645http://www.ncbi.nlm.nih.gov/pubmed/11196645
PubMed11502873http://www.ncbi.nlm.nih.gov/pubmed/11502873
PubMed12044878http://www.ncbi.nlm.nih.gov/pubmed/12044878
PubMed12578987http://www.ncbi.nlm.nih.gov/pubmed/12578987
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed24670650http://www.ncbi.nlm.nih.gov/pubmed/24670650
PubMed24784220http://www.ncbi.nlm.nih.gov/pubmed/24784220
PubMed25428217http://www.ncbi.nlm.nih.gov/pubmed/25428217
ReactomeR-HSA-392170http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-392170
ReactomeR-HSA-417957http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-417957
ReactomeR-HSA-418594http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-418594
RefSeqNP_073625http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_073625
RefSeqNP_795345http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_795345
RefSeqXP_016862558http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016862558
SMRQ9H244http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9H244
STRING9606.ENSP00000307259http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000307259&targetmode=cogs
UCSCuc003eyxhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003eyx&org=rat
UniGeneHs.591281http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.591281
UniGeneHs.665544http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.665544
UniProtKB-ACQ9H244http://www.uniprot.org/uniprot/Q9H244
UniProtKBP2Y12_HUMANhttp://www.uniprot.org/uniprot/P2Y12_HUMAN
chargeswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:P2Y12_HUMAN
eggNOGENOG410IFYDhttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410IFYD
eggNOGENOG410ZJD1http://eggnogapi.embl.de/nog_data/html/tree/ENOG410ZJD1
epestfindswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:P2Y12_HUMAN
garnierswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:P2Y12_HUMAN
helixturnhelixswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:P2Y12_HUMAN
hmomentswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:P2Y12_HUMAN
iepswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:P2Y12_HUMAN
inforesidueswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:P2Y12_HUMAN
neXtProtNX_Q9H244http://www.nextprot.org/db/entry/NX_Q9H244
octanolswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:P2Y12_HUMAN
pepcoilswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:P2Y12_HUMAN
pepdigestswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:P2Y12_HUMAN
pepinfoswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:P2Y12_HUMAN
pepnetswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:P2Y12_HUMAN
pepstatsswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:P2Y12_HUMAN
pepwheelswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:P2Y12_HUMAN
pepwindowswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:P2Y12_HUMAN
sigcleaveswissprot:P2Y12_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:P2Y12_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSIRPL1_HUMANEvent=Alternative splicing; Named isoforms=1; Comment=A number of isoforms are produced.; Name=1; IsoId=Q9NZN1-1; Sequence=Displayed;
# AltNameIRPL1_HUMANOligophrenin-4
# AltNameIRPL1_HUMANThree immunoglobulin domain-containing IL-1 receptor-related 2
# AltNameIRPL1_HUMANX-linked interleukin-1 receptor accessory protein-like 1
# BioGrid1163132
# CCDSCCDS14218-. [Q9NZN1-1]
# ChiTaRSIL1RAPL1human
# DISEASEIRPL1_HUMANMental 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.
# EnsemblENST00000378993ENSP00000368278; ENSG00000169306. [Q9NZN1-1]
# ExpressionAtlasQ9NZN1baseline and differential
# FUNCTIONIRPL1_HUMANMay 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_componentGO:0005737cytoplasm; IEA:UniProtKB-SubCell.
# GO_componentGO:0005886plasma membrane; IDA:UniProtKB.
# GO_componentGO:0009986cell surface; ISS:BHF-UCL.
# GO_componentGO:0016021integral component of membrane; IEA:UniProtKB-KW.
# GO_componentGO:0030424axon; IEA:UniProtKB-SubCell.
# GO_componentGO:0030425dendrite; ISS:BHF-UCL.
# GO_componentGO:0045211postsynaptic membrane; NAS:BHF-UCL.
# GO_functionGO:0005102receptor binding; ISS:BHF-UCL.
# GO_functionGO:0005245voltage-gated calcium channel activity; ISS:UniProtKB.
# GO_processGO:0007157heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; ISS:BHF-UCL.
# GO_processGO:0007165signal transduction; IEA:InterPro.
# GO_processGO:0010975regulation of neuron projection development; ISS:UniProtKB.
# GO_processGO:0030182neuron differentiation; ISS:BHF-UCL.
# GO_processGO:0045920negative regulation of exocytosis; IDA:UniProtKB.
# GO_processGO:0050775positive regulation of dendrite morphogenesis; ISS:BHF-UCL.
# GO_processGO:0097105presynaptic membrane assembly; ISS:BHF-UCL.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005886plasma membrane
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0022857transmembrane transporter activity
# GOslim_processGO:0007155cell adhesion
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0022607cellular component assembly
# GOslim_processGO:0030154cell differentiation
# GOslim_processGO:0061024membrane organization
# Gene3D2.60.40.10-; 3.
# Gene3D3.40.50.10140-; 1.
# GenevisibleQ9NZN1HS
# HGNCHGNC:5996IL1RAPL1
# InterProIPR000157TIR_dom
# InterProIPR003598Ig_sub2
# InterProIPR003599Ig_sub
# InterProIPR007110Ig-like_dom
# InterProIPR013151Immunoglobulin
# InterProIPR013783Ig-like_fold
# InterProIPR015621IL-1_rcpt_fam
# KEGG_Briteko04050Cytokine receptors
# KEGG_DiseaseH00480[Congenital disorder; Mental retardation] Non-syndromic X-linked mental retardation
# MIM300143phenotype
# MIM300206gene
# OrganismIRPL1_HUMANHomo sapiens (Human)
# Orphanet777X-linked non-syndromic intellectual disability
# PANTHERPTHR11890PTHR11890
# PDB1T3GX-ray; 2.30 A; A/B=403-561
# PDB4M92X-ray; 1.60 A; B=207-222
# PROSITEPS50104TIR
# PROSITEPS50835IG_LIKE; 3
# PfamPF00047ig
# PfamPF01582TIR
# ProteomesUP000005640Chromosome X
# RecNameIRPL1_HUMANInterleukin-1 receptor accessory protein-like 1
# RefSeqNP_055086NM_014271.3. [Q9NZN1-1]
# RefSeqXP_016884729XM_017029240.1. [Q9NZN1-1]
# SIMILARITYBelongs to the interleukin-1 receptor family. {ECO0000305}.
# SIMILARITYContains 1 TIR domain. {ECO:0000255|PROSITE- ProRulePRU00204}.
# SIMILARITYContains 3 Ig-like C2-type (immunoglobulin-like) domains. {ECO0000305}.
# SMARTSM00255TIR
# SMARTSM00408IGc2; 2
# SMARTSM00409IG; 3
# SUBCELLULAR LOCATIONIRPL1_HUMANCell 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}.
# SUBUNITHomodimer. Interacts (calcium-independent) with NCS1. Interacts (via extracellular region) with PTPRD; this interaction is required for IL1RAPL1-mediated synapse formation. {ECO:0000269|PubMed12783849}.
# SUPFAMSSF48726SSF48726; 3
# SUPFAMSSF52200SSF52200
# TISSUE SPECIFICITYIRPL1_HUMANDetected 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}.
# eggNOGENOG410IF3GEukaryota
# eggNOGENOG4110Z8KLUCA
BLASTswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:IRPL1_HUMAN
BioCycZFISH:ENSG00000169306-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000169306-MONOMER
COXPRESdb11141http://coxpresdb.jp/data/gene/11141.shtml
CleanExHS_IL1RAPL1http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_IL1RAPL1
DOI10.1002/ajmg.a.31107http://dx.doi.org/10.1002/ajmg.a.31107
DOI10.1038/12623http://dx.doi.org/10.1038/12623
DOI10.1038/nature03440http://dx.doi.org/10.1038/nature03440
DOI10.1038/sj.ejhg.5200415http://dx.doi.org/10.1038/sj.ejhg.5200415
DOI10.1074/jbc.M004077200http://dx.doi.org/10.1074/jbc.M004077200
DOI10.1074/jbc.M403434200http://dx.doi.org/10.1074/jbc.M403434200
DOI10.1093/hmg/ddg147http://dx.doi.org/10.1093/hmg/ddg147
DOI10.1093/hmg/ddn300http://dx.doi.org/10.1093/hmg/ddn300
DOI10.1093/molbev/msg134http://dx.doi.org/10.1093/molbev/msg134
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
EMBLAB102650http://www.ebi.ac.uk/ena/data/view/AB102650
EMBLAC005748http://www.ebi.ac.uk/ena/data/view/AC005748
EMBLAC005748http://www.ebi.ac.uk/ena/data/view/AC005748
EMBLAC121343http://www.ebi.ac.uk/ena/data/view/AC121343
EMBLAC121343http://www.ebi.ac.uk/ena/data/view/AC121343
EMBLAC129852http://www.ebi.ac.uk/ena/data/view/AC129852
EMBLAC129852http://www.ebi.ac.uk/ena/data/view/AC129852
EMBLAF181284http://www.ebi.ac.uk/ena/data/view/AF181284
EMBLAF284435http://www.ebi.ac.uk/ena/data/view/AF284435
EMBLAJ243874http://www.ebi.ac.uk/ena/data/view/AJ243874
EMBLAL031466http://www.ebi.ac.uk/ena/data/view/AL031466
EMBLAL031466http://www.ebi.ac.uk/ena/data/view/AL031466
EMBLAL031575http://www.ebi.ac.uk/ena/data/view/AL031575
EMBLAL031575http://www.ebi.ac.uk/ena/data/view/AL031575
EMBLBC126345http://www.ebi.ac.uk/ena/data/view/BC126345
EMBLBC126347http://www.ebi.ac.uk/ena/data/view/BC126347
EMBLCH471074http://www.ebi.ac.uk/ena/data/view/CH471074
EnsemblENST00000378993http://www.ensembl.org/id/ENST00000378993
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0009986http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986
GO_componentGO:0016021http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021
GO_componentGO:0030424http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030424
GO_componentGO:0030425http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425
GO_componentGO:0045211http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211
GO_functionGO:0005102http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102
GO_functionGO:0005245http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005245
GO_processGO:0007157http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007157
GO_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GO_processGO:0010975http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010975
GO_processGO:0030182http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030182
GO_processGO:0045920http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045920
GO_processGO:0050775http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050775
GO_processGO:0097105http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097105
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0022857http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857
GOslim_processGO:0007155http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0022607http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607
GOslim_processGO:0030154http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154
GOslim_processGO:0061024http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024
Gene3D2.60.40.10http://www.cathdb.info/version/latest/superfamily/2.60.40.10
Gene3D3.40.50.10140http://www.cathdb.info/version/latest/superfamily/3.40.50.10140
GeneCardsIL1RAPL1http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=IL1RAPL1
GeneID11141http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=11141
GeneTreeENSGT00760000119071http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119071
HGNCHGNC:5996http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:5996
HOGENOMHOG000092977http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000092977&db=HOGENOM6
HOVERGENHBG052148http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG052148&db=HOVERGEN
HPAHPA000564http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA000564
InParanoidQ9NZN1http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NZN1
IntActQ9NZN1http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NZN1*
InterProIPR000157http://www.ebi.ac.uk/interpro/entry/IPR000157
InterProIPR003598http://www.ebi.ac.uk/interpro/entry/IPR003598
InterProIPR003599http://www.ebi.ac.uk/interpro/entry/IPR003599
InterProIPR007110http://www.ebi.ac.uk/interpro/entry/IPR007110
InterProIPR013151http://www.ebi.ac.uk/interpro/entry/IPR013151
InterProIPR013783http://www.ebi.ac.uk/interpro/entry/IPR013783
InterProIPR015621http://www.ebi.ac.uk/interpro/entry/IPR015621
Jabion11141http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=11141
KEGG_Briteko04050http://www.genome.jp/dbget-bin/www_bget?ko04050
KEGG_DiseaseH00480http://www.genome.jp/dbget-bin/www_bget?H00480
KEGG_Genehsa:11141http://www.genome.jp/dbget-bin/www_bget?hsa:11141
KEGG_OrthologyKO:K05170http://www.genome.jp/dbget-bin/www_bget?KO:K05170
MIM300143http://www.ncbi.nlm.nih.gov/omim/300143
MIM300206http://www.ncbi.nlm.nih.gov/omim/300206
OMAKLLHPLEhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KLLHPLE
Orphanet777http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=777
OrthoDBEOG091G0GXWhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G0GXW
PANTHERPTHR11890http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11890
PDB1T3Ghttp://www.ebi.ac.uk/pdbe-srv/view/entry/1T3G
PDB4M92http://www.ebi.ac.uk/pdbe-srv/view/entry/4M92
PDBsum1T3Ghttp://www.ebi.ac.uk/pdbsum/1T3G
PDBsum4M92http://www.ebi.ac.uk/pdbsum/4M92
PROSITEPS50104http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50104
PROSITEPS50835http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50835
PSORT-Bswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:IRPL1_HUMAN
PSORT2swissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:IRPL1_HUMAN
PSORTswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:IRPL1_HUMAN
PfamPF00047http://pfam.xfam.org/family/PF00047
PfamPF01582http://pfam.xfam.org/family/PF01582
PharmGKBPA29812http://www.pharmgkb.org/do/serve?objId=PA29812&objCls=Gene
Phobiusswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:IRPL1_HUMAN
PhylomeDBQ9NZN1http://phylomedb.org/?seqid=Q9NZN1
ProteinModelPortalQ9NZN1http://www.proteinmodelportal.org/query/uniprot/Q9NZN1
PubMed10471494http://www.ncbi.nlm.nih.gov/pubmed/10471494
PubMed10757639http://www.ncbi.nlm.nih.gov/pubmed/10757639
PubMed10882729http://www.ncbi.nlm.nih.gov/pubmed/10882729
PubMed12777533http://www.ncbi.nlm.nih.gov/pubmed/12777533
PubMed12783849http://www.ncbi.nlm.nih.gov/pubmed/12783849
PubMed15123616http://www.ncbi.nlm.nih.gov/pubmed/15123616
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15772651http://www.ncbi.nlm.nih.gov/pubmed/15772651
PubMed16470793http://www.ncbi.nlm.nih.gov/pubmed/16470793
PubMed18801879http://www.ncbi.nlm.nih.gov/pubmed/18801879
RefSeqNP_055086http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055086
RefSeqXP_016884729http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016884729
SMARTSM00255http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00255
SMARTSM00408http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00408
SMARTSM00409http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00409
SMRQ9NZN1http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NZN1
STRING9606.ENSP00000305200http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000305200&targetmode=cogs
SUPFAMSSF48726http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726
SUPFAMSSF52200http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF52200
UniGeneHs.658912http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.658912
UniProtKB-ACQ9NZN1http://www.uniprot.org/uniprot/Q9NZN1
UniProtKBIRPL1_HUMANhttp://www.uniprot.org/uniprot/IRPL1_HUMAN
chargeswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:IRPL1_HUMAN
eggNOGENOG410IF3Ghttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410IF3G
eggNOGENOG4110Z8Khttp://eggnogapi.embl.de/nog_data/html/tree/ENOG4110Z8K
epestfindswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:IRPL1_HUMAN
garnierswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:IRPL1_HUMAN
helixturnhelixswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:IRPL1_HUMAN
hmomentswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:IRPL1_HUMAN
iepswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:IRPL1_HUMAN
inforesidueswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:IRPL1_HUMAN
neXtProtNX_Q9NZN1http://www.nextprot.org/db/entry/NX_Q9NZN1
octanolswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:IRPL1_HUMAN
pepcoilswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:IRPL1_HUMAN
pepdigestswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:IRPL1_HUMAN
pepinfoswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:IRPL1_HUMAN
pepnetswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:IRPL1_HUMAN
pepstatsswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:IRPL1_HUMAN
pepwheelswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:IRPL1_HUMAN
pepwindowswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:IRPL1_HUMAN
sigcleaveswissprot:IRPL1_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:IRPL1_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSEvent=Alternative splicing; Named isoforms=7; Name=1; Synonyms=FOR II, FOR2, WWOXv1, WWOX v8; IsoId=Q9NZC7-1; Sequence=Displayed; Name=2; Synonyms=FOR I, FOR1, WOX2, WWOXv2; IsoId=Q9NZC7-2; Sequence=VSP_016367, VSP_016369; Name=3; Synonyms=FOR III, FOR3, WOX3; IsoId=Q9NZC7-3; Sequence=VSP_016364, VSP_016365; Note=Variant in position: 182K->E (found in a primary colorectal tumor and tumor cells).; Name=4; Synonyms=FOR IV; IsoId=Q9NZC7-4; Sequence=VSP_016358, VSP_016359; Name=5; Synonyms=WWOXdelta6-8, WWOXv4; IsoId=Q9NZC7-5; Sequence=VSP_016363; Name=6; Synonyms=WWOXdelta5-8, WWOXv3; IsoId=Q9NZC7-6; Sequence=VSP_016360; Name=7; IsoId=Q9NZC7-7; Sequence=VSP_016362, VSP_016366;
# AltNameWWOX_HUMANFragile site FRA16D oxidoreductase
# AltNameWWOX_HUMANShort chain dehydrogenase/reductase family 41C member 1
# BioGrid119707250
# CCDSCCDS42196-. [Q9NZC7-1]
# CCDSCCDS42197-. [Q9NZC7-3]
# ChiTaRSWWOXhuman
# DISEASEWWOX_HUMANEpileptic encephalopathy, early infantile, 28 (EIEE28) [MIM 616211] A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO 0000269|PubMed 25411445}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DISEASEWWOX_HUMANEsophageal cancer (ESCR) [MIM 133239] A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO 0000269|PubMed 11956080}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
# DISEASEWWOX_HUMANNote=Defects in WWOX may be involved in several cancer types. The gene spans the second most common chromosomal fragile site (FRA16D) which is frequently altered in cancers (PubMed 10861292). Alteration of the expression and expression of some isoforms is associated with cancers. However, it is still unclear if alteration of WWOX is directly implicated in cancerogenesis or if it corresponds to a secondary effect (PubMed 10861292, PubMed 11572989, PubMed 15266310, PubMed 15073125, PubMed 15131042). {ECO 0000269|PubMed 10861292, ECO 0000269|PubMed 11572989, ECO 0000269|PubMed 15073125, ECO 0000269|PubMed 15131042, ECO 0000269|PubMed 15266310}.
# DISEASEWWOX_HUMANSpinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM 614322] Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with mental retardation. Some patients may also show spasticity. {ECO 0000269|PubMed 24369382, ECO 0000269|PubMed 24456803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DOMAINWWOX_HUMANThe WW 1 domain mediates interaction with TP53, and probably TP73, TFAP2C, LITAF and WBP1. {ECO 0000269|PubMed 15064722, ECO 0000269|PubMed 15070730, ECO 0000269|PubMed 15548692}.
# EnsemblENST00000355860ENSP00000348119; ENSG00000186153. [Q9NZC7-3]
# EnsemblENST00000402655ENSP00000384238; ENSG00000186153. [Q9NZC7-6]
# EnsemblENST00000406884ENSP00000384495; ENSG00000186153. [Q9NZC7-5]
# EnsemblENST00000408984ENSP00000386161; ENSG00000186153. [Q9NZC7-2]
# EnsemblENST00000566780ENSP00000457230; ENSG00000186153. [Q9NZC7-1]
# EnsemblENST00000569818ENSP00000454485; ENSG00000186153. [Q9NZC7-4]
# ExpressionAtlasQ9NZC7baseline and differential
# FUNCTIONWWOX_HUMANPutative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm. {ECO 0000250, ECO 0000269|PubMed 11719429, ECO 0000269|PubMed 15070730, ECO 0000269|PubMed 15548692, ECO 0000269|PubMed 16061658, ECO 0000269|PubMed 16219768, ECO 0000269|PubMed 19366691, ECO 0000269|PubMed 19465938}.
# GO_componentGO:0005634nucleus; IDA:BHF-UCL.
# GO_componentGO:0005737cytoplasm; IDA:UniProtKB.
# GO_componentGO:0005739mitochondrion; ISS:BHF-UCL.
# GO_componentGO:0005794Golgi apparatus; IDA:UniProtKB.
# GO_componentGO:0005829cytosol; IDA:BHF-UCL.
# GO_componentGO:0090575RNA polymerase II transcription factor complex; ISS:BHF-UCL.
# GO_functionGO:0001105RNA polymerase II transcription coactivator activity; IEA:Ensembl.
# GO_functionGO:0016491oxidoreductase activity; NAS:UniProtKB.
# GO_functionGO:0019899enzyme binding; IPI:BHF-UCL.
# GO_functionGO:0046983protein dimerization activity; TAS:UniProtKB.
# GO_functionGO:0048037cofactor binding; TAS:UniProtKB.
# GO_functionGO:0050662coenzyme binding; TAS:UniProtKB.
# GO_processGO:0001649osteoblast differentiation; IEA:Ensembl.
# GO_processGO:0008202steroid metabolic process; TAS:UniProtKB.
# GO_processGO:0016055Wnt signaling pathway; IEA:UniProtKB-KW.
# GO_processGO:0030178negative regulation of Wnt signaling pathway; IDA:UniProtKB.
# GO_processGO:0045944positive regulation of transcription from RNA polymerase II promoter; ISS:BHF-UCL.
# GO_processGO:0048705skeletal system morphogenesis; ISS:BHF-UCL.
# GO_processGO:0055114oxidation-reduction process; TAS:UniProtKB.
# GO_processGO:0071560cellular response to transforming growth factor beta stimulus; IDA:BHF-UCL.
# GO_processGO:0072332intrinsic apoptotic signaling pathway by p53 class mediator; IEA:Ensembl.
# GO_processGO:0097191extrinsic apoptotic signaling pathway; IEA:Ensembl.
# GO_processGO:2001238positive regulation of extrinsic apoptotic signaling pathway; ISS:BHF-UCL.
# GO_processGO:2001241positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; IEA:Ensembl.
# GOslim_componentGO:0005634nucleus
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005739mitochondrion
# GOslim_componentGO:0005794Golgi apparatus
# GOslim_componentGO:0005829cytosol
# GOslim_componentGO:0043234protein complex
# GOslim_functionGO:0000988transcription factor activity, protein binding
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0016491oxidoreductase activity
# GOslim_functionGO:0019899enzyme binding
# GOslim_processGO:0006629lipid metabolic process
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0030154cell differentiation
# Gene3D3.40.50.720-; 1.
# GenevisibleQ9NZC7HS
# HGNCHGNC:12799WWOX
# INTERACTIONWWOX_HUMANQ67FY2 Bcl9l (xeno); NbExp=3; IntAct=EBI-4320739, EBI-5234367; Q60838 Dvl2 (xeno); NbExp=2; IntAct=EBI-4320739, EBI-641940; Q61527 Erbb4 (xeno); NbExp=3; IntAct=EBI-4320739, EBI-4398741; P81408 FAM189B; NbExp=2; IntAct=EBI-4320739, EBI-6366314; Q99732 LITAF; NbExp=5; IntAct=EBI-4320739, EBI-725647; Q8N114 SHISA5; NbExp=2; IntAct=EBI-4320739, EBI-2115556; Q96G27 WBP1; NbExp=3; IntAct=EBI-4320739, EBI-3867685;
# IntActQ9NZC720
# InterProIPR001202WW_dom
# InterProIPR002347SDR_fam
# InterProIPR016040NAD(P)-bd_dom
# KEGG_DiseaseH00063[Neurodegenerative disease] Spinocerebellar ataxia (SCA)
# MIM133239phenotype
# MIM605131gene
# MIM614322phenotype
# MIM616211phenotype
# OrganismWWOX_HUMANHomo sapiens (Human)
# Orphanet25151046,XY partial gonadal dysgenesis
# Orphanet284282Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
# PDB1WMVNMR; -; A=51-101
# PRINTSPR00081GDHRDH
# PROSITEPS01159WW_DOMAIN_1; 2
# PROSITEPS50020WW_DOMAIN_2; 2
# PTMWWOX_HUMANPhosphorylated upon genotoxic stress. Phosphorylation of Tyr- 33 regulates interaction with TP53, TP73 and MAPK8. May also regulate proapoptotic activity. Phosphorylation by TNK2 is associated with polyubiquitination and degradation. {ECO 0000269|PubMed 15070730, ECO 0000269|PubMed 16288044, ECO 0000269|PubMed 19366691}.
# PTMWWOX_HUMANUbiquitinated when phosphorylated by TNK2, leading to its degradation. {ECO 0000269|PubMed 16288044}.
# PfamPF00106adh_short
# PfamPF00397WW; 2
# ProteomesUP000005640Chromosome 16
# ReactomeR-HSA-1251985Nuclear signaling by ERBB4
# ReactomeR-HSA-8866904Negative regulation of activity of TFAP2 (AP-2) family transcription factors
# ReactomeR-HSA-8866907Activation of the TFAP2 (AP-2) family of transcription factors
# RecNameWWOX_HUMANWW domain-containing oxidoreductase
# RefSeqNP_001278926NM_001291997.1
# RefSeqNP_057457NM_016373.3. [Q9NZC7-1]
# RefSeqNP_570607NM_130791.3. [Q9NZC7-3]
# SEQUENCE CAUTIONSequence=AAP94227.1; Type=Frameshift; Positions=362; Evidence={ECO0000305};
# SIMILARITYBelongs to the short-chain dehydrogenases/reductases (SDR) family. {ECO0000305}.
# SIMILARITYContains 2 WW domains. {ECO:0000255|PROSITE- ProRulePRU00224}.
# SMARTSM00456WW; 2
# SUBCELLULAR LOCATIONWWOX_HUMANCytoplasm {ECO 0000269|PubMed 14695174, ECO 0000269|PubMed 15070730, ECO 0000269|PubMed 16219768, ECO 0000269|PubMed 19366691, ECO 0000269|PubMed 19465938}. Nucleus {ECO 0000269|PubMed 14695174, ECO 0000269|PubMed 15064722, ECO 0000269|PubMed 16219768, ECO 0000269|PubMed 19366691}. Mitochondrion {ECO 0000269|PubMed 14695174}. Golgi apparatus {ECO 0000305}. Note=Partially localizes to the mitochondria (PubMed 14695174). Translocates to the nucleus upon genotoxic stress or TNF stimulation (By similarity). Translocates to the nucleus in response to TGFB1 (PubMed 19366691). Isoform 5 and isoform 6 may localize in the nucleus. {ECO 0000250, ECO 0000269|PubMed 14695174, ECO 0000269|PubMed 19366691}.
# SUBUNITWWOX_HUMANInteracts with TP53, p73/TP73 and MAPK8. Interacts with MAPT/TAU, RUNX2 and HYAL2 (By similarity). Forms a ternary complex with TP53 and MDM2. Interacts with ERBB4, LITAF and WBP1. Interacts with DVL1, DVL2 and DVL3. May interact with FAM189B and SCOTIN. Interacts with TNK2. Interacts with TMEM207. {ECO 0000250, ECO 0000269|PubMed 12514174, ECO 0000269|PubMed 15064722, ECO 0000269|PubMed 15070730, ECO 0000269|PubMed 15548692, ECO 0000269|PubMed 16061658, ECO 0000269|PubMed 16219768, ECO 0000269|PubMed 16288044, ECO 0000269|PubMed 19366691, ECO 0000269|PubMed 19465938, ECO 0000269|PubMed 22226915}.
# SUPFAMSSF51045SSF51045; 2
# SUPFAMSSF51735SSF51735
# TISSUE SPECIFICITYWWOX_HUMANWidely expressed. Strongly expressed in testis, prostate, and ovary. Overexpressed in cancer cell lines. Isoform 5 and isoform 6 may only be expressed in tumor cell lines. {ECO 0000269|PubMed 10786676, ECO 0000269|PubMed 11719429}.
# UCSCuc002ffihuman. [Q9NZC7-1]
# WEB RESOURCEWWOX_HUMANName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/WWOXID508ch16q23.html";
# eggNOGCOG5021LUCA
# eggNOGENOG410INSSEukaryota
BLASTswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:WWOX_HUMAN
COXPRESdb51741http://coxpresdb.jp/data/gene/51741.shtml
DOI10.1016/j.jprot.2013.11.014http://dx.doi.org/10.1016/j.jprot.2013.11.014
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1038/onc.2009.120http://dx.doi.org/10.1038/onc.2009.120
DOI10.1038/sj.bjc.6602023http://dx.doi.org/10.1038/sj.bjc.6602023
DOI10.1038/sj.onc.1207680http://dx.doi.org/10.1038/sj.onc.1207680
DOI10.1073/pnas.0400805101http://dx.doi.org/10.1073/pnas.0400805101
DOI10.1073/pnas.0505485102http://dx.doi.org/10.1073/pnas.0505485102
DOI10.1073/pnas.191175898http://dx.doi.org/10.1073/pnas.191175898
DOI10.1074/jbc.M208373200http://dx.doi.org/10.1074/jbc.M208373200
DOI10.1074/jbc.M505590200http://dx.doi.org/10.1074/jbc.M505590200
DOI10.1074/jbc.M806688200http://dx.doi.org/10.1074/jbc.M806688200
DOI10.1093/brain/awt338http://dx.doi.org/10.1093/brain/awt338
DOI10.1093/carcin/bgs001http://dx.doi.org/10.1093/carcin/bgs001
DOI10.1093/hmg/9.11.1651http://dx.doi.org/10.1093/hmg/9.11.1651
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1126/scisignal.2000007http://dx.doi.org/10.1126/scisignal.2000007
DOI10.1136/jmedgenet-2014-102748http://dx.doi.org/10.1136/jmedgenet-2014-102748
DOI10.1158/0008-5472.CAN-04-2055http://dx.doi.org/10.1158/0008-5472.CAN-04-2055
DOI10.1158/0008-5472.CAN-05-1127http://dx.doi.org/10.1158/0008-5472.CAN-05-1127
DOI10.1158/0008-5472.CAN-05-1150http://dx.doi.org/10.1158/0008-5472.CAN-05-1150
DOI10.1158/1078-0432.CCR-03-0096http://dx.doi.org/10.1158/1078-0432.CCR-03-0096
DOI10.1158/1078-0432.CCR-03-0594http://dx.doi.org/10.1158/1078-0432.CCR-03-0594
DOI10.1186/1750-1172-9-12http://dx.doi.org/10.1186/1750-1172-9-12
EC_numberEC:1.1.1.-http://www.genome.jp/dbget-bin/www_bget?EC:1.1.1.-
EMBLAF211943http://www.ebi.ac.uk/ena/data/view/AF211943
EMBLAF212843http://www.ebi.ac.uk/ena/data/view/AF212843
EMBLAF227526http://www.ebi.ac.uk/ena/data/view/AF227526
EMBLAF227527http://www.ebi.ac.uk/ena/data/view/AF227527
EMBLAF227528http://www.ebi.ac.uk/ena/data/view/AF227528
EMBLAF227529http://www.ebi.ac.uk/ena/data/view/AF227529
EMBLAF325423http://www.ebi.ac.uk/ena/data/view/AF325423
EMBLAF325423http://www.ebi.ac.uk/ena/data/view/AF325423
EMBLAF325423http://www.ebi.ac.uk/ena/data/view/AF325423
EMBLAF325424http://www.ebi.ac.uk/ena/data/view/AF325424
EMBLAF325424http://www.ebi.ac.uk/ena/data/view/AF325424
EMBLAF325424http://www.ebi.ac.uk/ena/data/view/AF325424
EMBLAF325425http://www.ebi.ac.uk/ena/data/view/AF325425
EMBLAF325425http://www.ebi.ac.uk/ena/data/view/AF325425
EMBLAF325425http://www.ebi.ac.uk/ena/data/view/AF325425
EMBLAF325426http://www.ebi.ac.uk/ena/data/view/AF325426
EMBLAF325426http://www.ebi.ac.uk/ena/data/view/AF325426
EMBLAF325426http://www.ebi.ac.uk/ena/data/view/AF325426
EMBLAF325427http://www.ebi.ac.uk/ena/data/view/AF325427
EMBLAF325427http://www.ebi.ac.uk/ena/data/view/AF325427
EMBLAF325428http://www.ebi.ac.uk/ena/data/view/AF325428
EMBLAF325429http://www.ebi.ac.uk/ena/data/view/AF325429
EMBLAF325430http://www.ebi.ac.uk/ena/data/view/AF325430
EMBLAF325431http://www.ebi.ac.uk/ena/data/view/AF325431
EMBLAF325432http://www.ebi.ac.uk/ena/data/view/AF325432
EMBLAF325432http://www.ebi.ac.uk/ena/data/view/AF325432
EMBLAF325433http://www.ebi.ac.uk/ena/data/view/AF325433
EMBLAF395123http://www.ebi.ac.uk/ena/data/view/AF395123
EMBLAF395124http://www.ebi.ac.uk/ena/data/view/AF395124
EMBLAH009490http://www.ebi.ac.uk/ena/data/view/AH009490
EMBLAK290438http://www.ebi.ac.uk/ena/data/view/AK290438
EMBLAY256821http://www.ebi.ac.uk/ena/data/view/AY256821
EMBLBC003184http://www.ebi.ac.uk/ena/data/view/BC003184
EMBLBT007445http://www.ebi.ac.uk/ena/data/view/BT007445
ENZYME1.1.1.-http://enzyme.expasy.org/EC/1.1.1.-
EnsemblENST00000355860http://www.ensembl.org/id/ENST00000355860
EnsemblENST00000402655http://www.ensembl.org/id/ENST00000402655
EnsemblENST00000406884http://www.ensembl.org/id/ENST00000406884
EnsemblENST00000408984http://www.ensembl.org/id/ENST00000408984
EnsemblENST00000566780http://www.ensembl.org/id/ENST00000566780
EnsemblENST00000569818http://www.ensembl.org/id/ENST00000569818
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GO_componentGO:0005794http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794
GO_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GO_componentGO:0090575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090575
GO_functionGO:0001105http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001105
GO_functionGO:0016491http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491
GO_functionGO:0019899http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899
GO_functionGO:0046983http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046983
GO_functionGO:0048037http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048037
GO_functionGO:0050662http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050662
GO_processGO:0001649http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001649
GO_processGO:0008202http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008202
GO_processGO:0016055http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016055
GO_processGO:0030178http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030178
GO_processGO:0045944http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944
GO_processGO:0048705http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048705
GO_processGO:0055114http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055114
GO_processGO:0071560http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071560
GO_processGO:0072332http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072332
GO_processGO:0097191http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097191
GO_processGO:2001238http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001238
GO_processGO:2001241http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001241
GOslim_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GOslim_componentGO:0005794http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005794
GOslim_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GOslim_componentGO:0043234http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234
GOslim_functionGO:0000988http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000988
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0016491http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491
GOslim_functionGO:0019899http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899
GOslim_processGO:0006629http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0030154http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154
Gene3D3.40.50.720http://www.cathdb.info/version/latest/superfamily/3.40.50.720
GeneCardsWWOXhttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=WWOX
GeneID51741http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51741
GeneTreeENSGT00760000119068http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119068
HGNCHGNC:12799http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12799
HOVERGENHBG078800http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG078800&db=HOVERGEN
HPAHPA050992http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA050992
InParanoidQ9NZC7http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9NZC7
IntActQ9NZC7http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9NZC7*
IntEnz1.1.1http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.1.1
InterProIPR001202http://www.ebi.ac.uk/interpro/entry/IPR001202
InterProIPR002347http://www.ebi.ac.uk/interpro/entry/IPR002347
InterProIPR016040http://www.ebi.ac.uk/interpro/entry/IPR016040
Jabion51741http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51741
KEGG_DiseaseH00063http://www.genome.jp/dbget-bin/www_bget?H00063
KEGG_Genehsa:51741http://www.genome.jp/dbget-bin/www_bget?hsa:51741
MIM133239http://www.ncbi.nlm.nih.gov/omim/133239
MIM605131http://www.ncbi.nlm.nih.gov/omim/605131
MIM614322http://www.ncbi.nlm.nih.gov/omim/614322
MIM616211http://www.ncbi.nlm.nih.gov/omim/616211
MINTMINT-1175612http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1175612
OMAYSNIHRShttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=YSNIHRS
Orphanet251510http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=251510
Orphanet284282http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=284282
OrthoDBEOG091G0EI5http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0EI5
PDB1WMVhttp://www.ebi.ac.uk/pdbe-srv/view/entry/1WMV
PDBsum1WMVhttp://www.ebi.ac.uk/pdbsum/1WMV
PRINTSPR00081http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00081
PROSITEPS01159http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01159
PROSITEPS50020http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50020
PSORT-Bswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:WWOX_HUMAN
PSORT2swissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:WWOX_HUMAN
PSORTswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:WWOX_HUMAN
PfamPF00106http://pfam.xfam.org/family/PF00106
PfamPF00397http://pfam.xfam.org/family/PF00397
PharmGKBPA37398http://www.pharmgkb.org/do/serve?objId=PA37398&objCls=Gene
Phobiusswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:WWOX_HUMAN
PhylomeDBQ9NZC7http://phylomedb.org/?seqid=Q9NZC7
ProteinModelPortalQ9NZC7http://www.proteinmodelportal.org/query/uniprot/Q9NZC7
PubMed10786676http://www.ncbi.nlm.nih.gov/pubmed/10786676
PubMed10861292http://www.ncbi.nlm.nih.gov/pubmed/10861292
PubMed11572989http://www.ncbi.nlm.nih.gov/pubmed/11572989
PubMed11719429http://www.ncbi.nlm.nih.gov/pubmed/11719429
PubMed11956080http://www.ncbi.nlm.nih.gov/pubmed/11956080
PubMed12514174http://www.ncbi.nlm.nih.gov/pubmed/12514174
PubMed14695174http://www.ncbi.nlm.nih.gov/pubmed/14695174
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15064722http://www.ncbi.nlm.nih.gov/pubmed/15064722
PubMed15070730http://www.ncbi.nlm.nih.gov/pubmed/15070730
PubMed15073125http://www.ncbi.nlm.nih.gov/pubmed/15073125
PubMed15131042http://www.ncbi.nlm.nih.gov/pubmed/15131042
PubMed15266310http://www.ncbi.nlm.nih.gov/pubmed/15266310
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15548692http://www.ncbi.nlm.nih.gov/pubmed/15548692
PubMed16061658http://www.ncbi.nlm.nih.gov/pubmed/16061658
PubMed16219768http://www.ncbi.nlm.nih.gov/pubmed/16219768
PubMed16223882http://www.ncbi.nlm.nih.gov/pubmed/16223882
PubMed16288044http://www.ncbi.nlm.nih.gov/pubmed/16288044
PubMed19366691http://www.ncbi.nlm.nih.gov/pubmed/19366691
PubMed19465938http://www.ncbi.nlm.nih.gov/pubmed/19465938
PubMed19690332http://www.ncbi.nlm.nih.gov/pubmed/19690332
PubMed22226915http://www.ncbi.nlm.nih.gov/pubmed/22226915
PubMed24275569http://www.ncbi.nlm.nih.gov/pubmed/24275569
PubMed24369382http://www.ncbi.nlm.nih.gov/pubmed/24369382
PubMed24456803http://www.ncbi.nlm.nih.gov/pubmed/24456803
PubMed25411445http://www.ncbi.nlm.nih.gov/pubmed/25411445
ReactomeR-HSA-1251985http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1251985
ReactomeR-HSA-8866904http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8866904
ReactomeR-HSA-8866907http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8866907
RefSeqNP_001278926http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001278926
RefSeqNP_057457http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057457
RefSeqNP_570607http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_570607
SMARTSM00456http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00456
SMRQ9NZC7http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9NZC7
STRING9606.ENSP00000457230http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000457230&targetmode=cogs
SUPFAMSSF51045http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51045
SUPFAMSSF51735http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51735
UCSCuc002ffihttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ffi&org=rat
UniGeneHs.461453http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.461453
UniProtKB-ACQ9NZC7http://www.uniprot.org/uniprot/Q9NZC7
UniProtKBWWOX_HUMANhttp://www.uniprot.org/uniprot/WWOX_HUMAN
chargeswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:WWOX_HUMAN
eggNOGCOG5021http://eggnogapi.embl.de/nog_data/html/tree/COG5021
eggNOGENOG410INSShttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410INSS
epestfindswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:WWOX_HUMAN
garnierswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:WWOX_HUMAN
helixturnhelixswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:WWOX_HUMAN
hmomentswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:WWOX_HUMAN
iepswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:WWOX_HUMAN
inforesidueswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:WWOX_HUMAN
neXtProtNX_Q9NZC7http://www.nextprot.org/db/entry/NX_Q9NZC7
octanolswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:WWOX_HUMAN
pepcoilswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:WWOX_HUMAN
pepdigestswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:WWOX_HUMAN
pepinfoswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:WWOX_HUMAN
pepnetswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:WWOX_HUMAN
pepstatsswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:WWOX_HUMAN
pepwheelswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:WWOX_HUMAN
pepwindowswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:WWOX_HUMAN
sigcleaveswissprot:WWOX_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:WWOX_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSTYOBP_HUMANEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=KARAP-a; IsoId=O43914-1; Sequence=Displayed; Name=2; Synonyms=KARAP-b; IsoId=O43914-2; Sequence=VSP_012909; Name=3; IsoId=O43914-3; Sequence=VSP_046066; Note=No experimental confirmation available.;
# AltNameTYOBP_HUMANDNAX-activation protein 12
# AltNameTYOBP_HUMANKiller-activating receptor-associated protein
# BioGrid1131557
# CCDSCCDS12482-. [O43914-1]
# CCDSCCDS46058-. [O43914-2]
# CCDSCCDS54255-. [O43914-3]
# DISEASETYOBP_HUMANPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM 221770] Recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10(-6) in the Finns. {ECO 0000269|PubMed 10888890, ECO 0000269|PubMed 12370476}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# EnsemblENST00000262629ENSP00000262629; ENSG00000011600. [O43914-1]
# EnsemblENST00000544690ENSP00000445332; ENSG00000011600. [O43914-3]
# EnsemblENST00000589517ENSP00000468447; ENSG00000011600. [O43914-2]
# ExpressionAtlasO43914baseline and differential
# FUNCTIONTYOBP_HUMANNon-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin.
# GO_componentGO:0005622intracellular; IEA:GOC.
# GO_componentGO:0005886plasma membrane; TAS:Reactome.
# GO_componentGO:0005887integral component of plasma membrane; TAS:ProtInc.
# GO_componentGO:0009986cell surface; IDA:UniProtKB.
# GO_functionGO:0005057signal transducer activity, downstream of receptor; TAS:ProtInc.
# GO_functionGO:0005102receptor binding; IPI:UniProtKB.
# GO_processGO:0002281macrophage activation involved in immune response; IEA:Ensembl.
# GO_processGO:0002283neutrophil activation involved in immune response; IEA:Ensembl.
# GO_processGO:0006968cellular defense response; TAS:ProtInc.
# GO_processGO:0007165signal transduction; TAS:ProtInc.
# GO_processGO:0007229integrin-mediated signaling pathway; IEA:Ensembl.
# GO_processGO:0035556intracellular signal transduction; TAS:ProtInc.
# GO_processGO:0045087innate immune response; TAS:Reactome.
# GO_processGO:0050776regulation of immune response; TAS:Reactome.
# GO_processGO:2001204regulation of osteoclast development; IEA:Ensembl.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005622intracellular
# GOslim_componentGO:0005886plasma membrane
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0004871signal transducer activity
# GOslim_processGO:0002376immune system process
# GOslim_processGO:0006950response to stress
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0008150biological_process
# GenevisibleO43914HS
# HGNCHGNC:12449TYROBP
# INTERACTIONTYOBP_HUMANSelf; NbExp=2; IntAct=EBI-2214794, EBI-2214794; P26717 KLRC2; NbExp=2; IntAct=EBI-2214794, EBI-3862171; O00241 SIRPB1; NbExp=4; IntAct=EBI-2214794, EBI-2615458;
# IntActO439148
# InterProIPR026200Tyrobp
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_DiseaseH00438[Skeletal dysplasia; Neurodegenerative disease] Nasu-Hakola disease
# KEGG_Pathwayko04380Osteoclast differentiation
# KEGG_Pathwayko04650Natural killer cell mediated cytotoxicity
# MIM221770phenotype
# MIM604142gene
# OrganismTYOBP_HUMANHomo sapiens (Human)
# Orphanet2770Nasu-Hakola disease
# PANTHERPTHR17554PTHR17554
# PDB2L34NMR; -; A/B=35-67
# PDB2L35NMR; -; A=35-67, B=35-66
# PDB4WO1X-ray; 2.14 A; A/B/C/D=35-67
# PDB4WOLX-ray; 1.77 A; A/B/C=35-67
# PTMTYOBP_HUMANTyrosine phosphorylated.
# ProteomesUP000005640Chromosome 19
# ReactomeR-HSA-198933Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
# ReactomeR-HSA-2172127DAP12 interactions
# ReactomeR-HSA-2424491DAP12 signaling
# ReactomeR-HSA-391160Signal regulatory protein (SIRP) family interactions
# ReactomeR-HSA-416700Other semaphorin interactions
# ReactomeR-HSA-6798695Neutrophil degranulation
# RecNameTYOBP_HUMANTYRO protein tyrosine kinase-binding protein
# RefSeqNP_001166985NM_001173514.1. [O43914-3]
# RefSeqNP_003323NM_003332.3. [O43914-1]
# RefSeqNP_937758NM_198125.2. [O43914-2]
# SIMILARITYBelongs to the TYROBP family. {ECO0000305}.
# SIMILARITYContains 1 ITAM domain. {ECO0000305}.
# SUBCELLULAR LOCATIONTYOBP_HUMANMembrane; Single-pass type I membrane protein.
# SUBUNITTYOBP_HUMANHomodimer; disulfide-linked. Interacts with SIRPB1 and TREM1. Interacts with CLECSF5. Interacts with SIGLEC14. Interacts with CD300LB and CD300E. Interacts with CD300D (By similarity). Interacts (via ITAM domain) with SYK (via SH2 domains); activates SYK mediating neutrophils and macrophages integrin-mediated activation (By similarity). Interacts with KLRC2 and KIR2DS3. {ECO 0000250, ECO 0000269|PubMed 10449773, ECO 0000269|PubMed 10799849, ECO 0000269|PubMed 15557162, ECO 0000269|PubMed 16920917, ECO 0000269|PubMed 17012248, ECO 0000269|PubMed 17928527, ECO 0000269|PubMed 20890284}.
# TISSUE SPECIFICITYExpressed at low levels in the early development of the hematopoietic system and in the promonocytic stage and at high levels in mature monocytes. Expressed in hematological cells and tissues such as peripheral blood leukocytes and spleen. Also found in bone marrow, lymph nodes, placenta, lung and liver. Expressed at lower levels in different parts of the brain especially in the basal ganglia and corpus callosum. {ECO:0000269|PubMed11922939}.
# UCSCuc002ocmhuman. [O43914-1]
# eggNOGENOG410J1XSEukaryota
# eggNOGENOG410Z4TNLUCA
BLASTswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:TYOBP_HUMAN
BioCycZFISH:ENSG00000011600-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000011600-MONOMER
COXPRESdb7305http://coxpresdb.jp/data/gene/7305.shtml
CleanExHS_TYROBPhttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TYROBP
DOI10.1002/pmic.201400617http://dx.doi.org/10.1002/pmic.201400617
DOI10.1016/S0161-5890(02)00004-4http://dx.doi.org/10.1016/S0161-5890(02)00004-4
DOI10.1038/35642http://dx.doi.org/10.1038/35642
DOI10.1038/77153http://dx.doi.org/10.1038/77153
DOI10.1038/nature02399http://dx.doi.org/10.1038/nature02399
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1038/ni.1943http://dx.doi.org/10.1038/ni.1943
DOI10.1073/pnas.96.17.9792http://dx.doi.org/10.1073/pnas.96.17.9792
DOI10.1074/mcp.M800588-MCP200http://dx.doi.org/10.1074/mcp.M800588-MCP200
DOI10.1096/fj.06-5800comhttp://dx.doi.org/10.1096/fj.06-5800com
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1101/gr.4039406http://dx.doi.org/10.1101/gr.4039406
DOI10.1182/blood-2007-04-085787http://dx.doi.org/10.1182/blood-2007-04-085787
DOI10.1212/WNL.59.7.1105http://dx.doi.org/10.1212/WNL.59.7.1105
DOI10.4049/jimmunol.164.10.4991http://dx.doi.org/10.4049/jimmunol.164.10.4991
DOI10.4049/jimmunol.173.11.6703http://dx.doi.org/10.4049/jimmunol.173.11.6703
DOI10.4049/jimmunol.177.5.2819http://dx.doi.org/10.4049/jimmunol.177.5.2819
EMBLAD000833http://www.ebi.ac.uk/ena/data/view/AD000833
EMBLAD000864http://www.ebi.ac.uk/ena/data/view/AD000864
EMBLAF019562http://www.ebi.ac.uk/ena/data/view/AF019562
EMBLAF019563http://www.ebi.ac.uk/ena/data/view/AF019563
EMBLAJ010098http://www.ebi.ac.uk/ena/data/view/AJ010098
EMBLAK290385http://www.ebi.ac.uk/ena/data/view/AK290385
EMBLAY074782http://www.ebi.ac.uk/ena/data/view/AY074782
EMBLBC011175http://www.ebi.ac.uk/ena/data/view/BC011175
EMBLBP295666http://www.ebi.ac.uk/ena/data/view/BP295666
EMBLBT009851http://www.ebi.ac.uk/ena/data/view/BT009851
EMBLCR450342http://www.ebi.ac.uk/ena/data/view/CR450342
EMBLCR542202http://www.ebi.ac.uk/ena/data/view/CR542202
EnsemblENST00000262629http://www.ensembl.org/id/ENST00000262629
EnsemblENST00000544690http://www.ensembl.org/id/ENST00000544690
EnsemblENST00000589517http://www.ensembl.org/id/ENST00000589517
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005622http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0005887http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887
GO_componentGO:0009986http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009986
GO_functionGO:0005057http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005057
GO_functionGO:0005102http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102
GO_processGO:0002281http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002281
GO_processGO:0002283http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002283
GO_processGO:0006968http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006968
GO_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GO_processGO:0007229http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007229
GO_processGO:0035556http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035556
GO_processGO:0045087http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045087
GO_processGO:0050776http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050776
GO_processGO:2001204http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001204
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005622http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0004871http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871
GOslim_processGO:0002376http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376
GOslim_processGO:0006950http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GeneCardsTYROBPhttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TYROBP
GeneID7305http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7305
GeneTreeENSGT00390000016786http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016786
HGNCHGNC:12449http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12449
HOGENOMHOG000056440http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000056440&db=HOGENOM6
HOVERGENHBG061468http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG061468&db=HOVERGEN
HPACAB009493http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB009493
HPAHPA041899http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA041899
InParanoidO43914http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O43914
IntActO43914http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O43914*
InterProIPR026200http://www.ebi.ac.uk/interpro/entry/IPR026200
Jabion7305http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7305
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_DiseaseH00438http://www.genome.jp/dbget-bin/www_bget?H00438
KEGG_Genehsa:7305http://www.genome.jp/dbget-bin/www_bget?hsa:7305
KEGG_OrthologyKO:K07992http://www.genome.jp/dbget-bin/www_bget?KO:K07992
KEGG_Pathwayko04380http://www.genome.jp/kegg-bin/show_pathway?ko04380
KEGG_Pathwayko04650http://www.genome.jp/kegg-bin/show_pathway?ko04650
MIM221770http://www.ncbi.nlm.nih.gov/omim/221770
MIM604142http://www.ncbi.nlm.nih.gov/omim/604142
Orphanet2770http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2770
PANTHERPTHR17554http://www.pantherdb.org/panther/family.do?clsAccession=PTHR17554
PDB2L34http://www.ebi.ac.uk/pdbe-srv/view/entry/2L34
PDB2L35http://www.ebi.ac.uk/pdbe-srv/view/entry/2L35
PDB4WO1http://www.ebi.ac.uk/pdbe-srv/view/entry/4WO1
PDB4WOLhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4WOL
PDBsum2L34http://www.ebi.ac.uk/pdbsum/2L34
PDBsum2L35http://www.ebi.ac.uk/pdbsum/2L35
PDBsum4WO1http://www.ebi.ac.uk/pdbsum/4WO1
PDBsum4WOLhttp://www.ebi.ac.uk/pdbsum/4WOL
PSORT-Bswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:TYOBP_HUMAN
PSORT2swissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:TYOBP_HUMAN
PSORTswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:TYOBP_HUMAN
PharmGKBPA37100http://www.pharmgkb.org/do/serve?objId=PA37100&objCls=Gene
Phobiusswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:TYOBP_HUMAN
PhylomeDBO43914http://phylomedb.org/?seqid=O43914
ProteinModelPortalO43914http://www.proteinmodelportal.org/query/uniprot/O43914
PubMed10449773http://www.ncbi.nlm.nih.gov/pubmed/10449773
PubMed10799849http://www.ncbi.nlm.nih.gov/pubmed/10799849
PubMed10888890http://www.ncbi.nlm.nih.gov/pubmed/10888890
PubMed11922939http://www.ncbi.nlm.nih.gov/pubmed/11922939
PubMed12370476http://www.ncbi.nlm.nih.gov/pubmed/12370476
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15057824http://www.ncbi.nlm.nih.gov/pubmed/15057824
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15557162http://www.ncbi.nlm.nih.gov/pubmed/15557162
PubMed16344560http://www.ncbi.nlm.nih.gov/pubmed/16344560
PubMed16920917http://www.ncbi.nlm.nih.gov/pubmed/16920917
PubMed17012248http://www.ncbi.nlm.nih.gov/pubmed/17012248
PubMed17928527http://www.ncbi.nlm.nih.gov/pubmed/17928527
PubMed19369195http://www.ncbi.nlm.nih.gov/pubmed/19369195
PubMed20890284http://www.ncbi.nlm.nih.gov/pubmed/20890284
PubMed25944712http://www.ncbi.nlm.nih.gov/pubmed/25944712
PubMed9490415http://www.ncbi.nlm.nih.gov/pubmed/9490415
ReactomeR-HSA-198933http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-198933
ReactomeR-HSA-2172127http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2172127
ReactomeR-HSA-2424491http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2424491
ReactomeR-HSA-391160http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-391160
ReactomeR-HSA-416700http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416700
ReactomeR-HSA-6798695http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695
RefSeqNP_001166985http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001166985
RefSeqNP_003323http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003323
RefSeqNP_937758http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_937758
SMRO43914http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O43914
STRING9606.ENSP00000262629http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000262629&targetmode=cogs
UCSCuc002ocmhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002ocm&org=rat
UniGeneHs.515369http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.515369
UniProtKB-ACO43914http://www.uniprot.org/uniprot/O43914
UniProtKBTYOBP_HUMANhttp://www.uniprot.org/uniprot/TYOBP_HUMAN
chargeswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:TYOBP_HUMAN
eggNOGENOG410J1XShttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410J1XS
eggNOGENOG410Z4TNhttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410Z4TN
epestfindswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:TYOBP_HUMAN
garnierswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:TYOBP_HUMAN
helixturnhelixswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:TYOBP_HUMAN
hmomentswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:TYOBP_HUMAN
iepswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:TYOBP_HUMAN
inforesidueswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:TYOBP_HUMAN
neXtProtNX_O43914http://www.nextprot.org/db/entry/NX_O43914
octanolswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:TYOBP_HUMAN
pepcoilswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:TYOBP_HUMAN
pepdigestswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:TYOBP_HUMAN
pepinfoswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:TYOBP_HUMAN
pepnetswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:TYOBP_HUMAN
pepstatsswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:TYOBP_HUMAN
pepwheelswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:TYOBP_HUMAN
pepwindowswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:TYOBP_HUMAN
sigcleaveswissprot:TYOBP_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:TYOBP_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSMEF2C_HUMANEvent=Alternative splicing; Named isoforms=6; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q06413-1; Sequence=Displayed; Name=2; Synonyms=Muscle; IsoId=Q06413-2; Sequence=VSP_006248; Name=3; Synonyms=hMEF2C-delta32, Brain; IsoId=Q06413-3; Sequence=VSP_006249; Name=4; IsoId=Q06413-4; Sequence=VSP_043339, VSP_006248; Name=5; IsoId=Q06413-5; Sequence=VSP_045478, VSP_006248; Note=No experimental confirmation available.; Name=6; IsoId=Q06413-6; Sequence=VSP_046251, VSP_006248; Note=No experimental confirmation available.;
# BioGrid11037227
# CCDSCCDS47244-. [Q06413-6]
# CCDSCCDS47245-. [Q06413-1]
# CCDSCCDS54877-. [Q06413-4]
# CCDSCCDS54878-. [Q06413-5]
# CCDSCCDS78034-. [Q06413-2]
# CDDcd00265MADS_MEF2_like
# ChiTaRSMEF2Chuman
# DEVELOPMENTAL STAGEMEF2C_HUMANExpression is highest during the early stages of postnatal development, at later stages levels greatly decrease.
# DISEASEMEF2C_HUMANMental retardation, autosomal dominant 20 (MRD20) [MIM 613443] A disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures. {ECO 0000269|PubMed 19592390}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DOMAINMEF2C_HUMANThe beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity. {ECO 0000250}.
# EnsemblENST00000340208ENSP00000340874; ENSG00000081189. [Q06413-5]
# EnsemblENST00000424173ENSP00000389610; ENSG00000081189. [Q06413-6]
# EnsemblENST00000437473ENSP00000396219; ENSG00000081189. [Q06413-1]
# EnsemblENST00000504921ENSP00000421925; ENSG00000081189. [Q06413-1]
# EnsemblENST00000508569ENSP00000423597; ENSG00000081189. [Q06413-2]
# EnsemblENST00000514015ENSP00000424606; ENSG00000081189. [Q06413-3]
# EnsemblENST00000514028ENSP00000426665; ENSG00000081189. [Q06413-3]
# EnsemblENST00000625674ENSP00000487430; ENSG00000081189. [Q06413-6]
# EnsemblENST00000628656ENSP00000487311; ENSG00000081189. [Q06413-4]
# EnsemblENST00000629612ENSP00000486554; ENSG00000081189. [Q06413-2]
# EnsemblENST00000636294ENSP00000490473; ENSG00000081189. [Q06413-1]
# EnsemblENST00000636998ENSP00000490630; ENSG00000081189. [Q06413-3]
# EnsemblENST00000637732ENSP00000490241; ENSG00000081189. [Q06413-3]
# ExpressionAtlasQ06413baseline and differential
# FUNCTIONMEF2C_HUMANTranscription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle- specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2. {ECO 0000250|UniProtKB Q8CFN5, ECO 0000269|PubMed 11904443, ECO 0000269|PubMed 15340086, ECO 0000269|PubMed 15831463, ECO 0000269|PubMed 15834131, ECO 0000269|PubMed 9069290, ECO 0000269|PubMed 9384584}.
# GO_componentGO:0005634nucleus; IDA:UniProtKB.
# GO_componentGO:0005654nucleoplasm; IDA:HPA.
# GO_componentGO:0005737cytoplasm; IDA:UniProtKB.
# GO_componentGO:0005829cytosol; ISS:Alzheimers_University_of_Toronto.
# GO_componentGO:0016607nuclear speck; IDA:BHF-UCL.
# GO_componentGO:0043231intracellular membrane-bounded organelle; IDA:HPA.
# GO_componentGO:0043234protein complex; IDA:UniProtKB.
# GO_componentGO:0098794postsynapse; IEA:GOC.
# GO_functionGO:0000977RNA polymerase II regulatory region sequence-specific DNA binding; IDA:UniProtKB.
# GO_functionGO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding; IEA:Ensembl.
# GO_functionGO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding; IEA:Ensembl.
# GO_functionGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISS:UniProtKB.
# GO_functionGO:0000983transcription factor activity, RNA polymerase II core promoter sequence-specific; IDA:UniProtKB.
# GO_functionGO:0001046core promoter sequence-specific DNA binding; IEA:Ensembl.
# GO_functionGO:0001077transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; IDA:UniProtKB.
# GO_functionGO:0001205transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding; IEA:Ensembl.
# GO_functionGO:0003677DNA binding; IDA:UniProtKB.
# GO_functionGO:0003680AT DNA binding; IDA:UniProtKB.
# GO_functionGO:0003682chromatin binding; IEA:Ensembl.
# GO_functionGO:0003700transcription factor activity, sequence-specific DNA binding; IDA:BHF-UCL.
# GO_functionGO:0033613activating transcription factor binding; IPI:UniProtKB.
# GO_functionGO:0035198miRNA binding; IDA:UniProtKB.
# GO_functionGO:0044212transcription regulatory region DNA binding; ISS:BHF-UCL.
# GO_functionGO:0046982protein heterodimerization activity; IPI:UniProtKB.
# GO_processGO:0000122negative regulation of transcription from RNA polymerase II promoter; IMP:BHF-UCL.
# GO_processGO:0000165MAPK cascade; IDA:UniProtKB.
# GO_processGO:0001568blood vessel development; ISS:UniProtKB.
# GO_processGO:0001649osteoblast differentiation; ISS:UniProtKB.
# GO_processGO:0001764neuron migration; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0001782B cell homeostasis; ISS:UniProtKB.
# GO_processGO:0001947heart looping; ISS:UniProtKB.
# GO_processGO:0001958endochondral ossification; ISS:UniProtKB.
# GO_processGO:0001974blood vessel remodeling; ISS:UniProtKB.
# GO_processGO:0002062chondrocyte differentiation; ISS:UniProtKB.
# GO_processGO:0002467germinal center formation; ISS:UniProtKB.
# GO_processGO:0002634regulation of germinal center formation; ISS:UniProtKB.
# GO_processGO:0002931response to ischemia; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0003138primary heart field specification; ISS:UniProtKB.
# GO_processGO:0003139secondary heart field specification; ISS:UniProtKB.
# GO_processGO:0003151outflow tract morphogenesis; ISS:UniProtKB.
# GO_processGO:0003185sinoatrial valve morphogenesis; ISS:UniProtKB.
# GO_processGO:0003211cardiac ventricle formation; ISS:UniProtKB.
# GO_processGO:0006355regulation of transcription, DNA-templated; IDA:Alzheimers_University_of_Toronto.
# GO_processGO:0006915apoptotic process; IEA:UniProtKB-KW.
# GO_processGO:0006959humoral immune response; ISS:UniProtKB.
# GO_processGO:0007399nervous system development; TAS:ProtInc.
# GO_processGO:0007507heart development; IEP:UniProtKB.
# GO_processGO:0007517muscle organ development; TAS:ProtInc.
# GO_processGO:0007519skeletal muscle tissue development; ISS:UniProtKB.
# GO_processGO:0007521muscle cell fate determination; ISS:UniProtKB.
# GO_processGO:0007611learning or memory; ISS:UniProtKB.
# GO_processGO:0009615response to virus; IEP:UniProtKB.
# GO_processGO:0010628positive regulation of gene expression; IDA:UniProtKB.
# GO_processGO:0010629negative regulation of gene expression; ISS:UniProtKB.
# GO_processGO:0010694positive regulation of alkaline phosphatase activity; ISS:UniProtKB.
# GO_processGO:0014033neural crest cell differentiation; ISS:UniProtKB.
# GO_processGO:0014898cardiac muscle hypertrophy in response to stress; IEA:Ensembl.
# GO_processGO:0014902myotube differentiation; IEP:UniProtKB.
# GO_processGO:0021542dentate gyrus development; IEA:Ensembl.
# GO_processGO:0030182neuron differentiation; IEP:UniProtKB.
# GO_processGO:0030220platelet formation; ISS:UniProtKB.
# GO_processGO:0030224monocyte differentiation; IEA:Ensembl.
# GO_processGO:0030279negative regulation of ossification; IDA:UniProtKB.
# GO_processGO:0030318melanocyte differentiation; ISS:UniProtKB.
# GO_processGO:0030501positive regulation of bone mineralization; ISS:UniProtKB.
# GO_processGO:0030890positive regulation of B cell proliferation; ISS:UniProtKB.
# GO_processGO:0033197response to vitamin E; IEA:Ensembl.
# GO_processGO:0035690cellular response to drug; ISS:UniProtKB.
# GO_processGO:0035914skeletal muscle cell differentiation; IEA:Ensembl.
# GO_processGO:0035984cellular response to trichostatin A; ISS:UniProtKB.
# GO_processGO:0042100B cell proliferation; ISS:UniProtKB.
# GO_processGO:0043406positive regulation of MAP kinase activity; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0043523regulation of neuron apoptotic process; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0043524negative regulation of neuron apoptotic process; ISS:UniProtKB.
# GO_processGO:0045652regulation of megakaryocyte differentiation; ISS:UniProtKB.
# GO_processGO:0045663positive regulation of myoblast differentiation; IMP:UniProtKB.
# GO_processGO:0045666positive regulation of neuron differentiation; ISS:UniProtKB.
# GO_processGO:0045669positive regulation of osteoblast differentiation; ISS:UniProtKB.
# GO_processGO:0045893positive regulation of transcription, DNA-templated; IDA:UniProtKB.
# GO_processGO:0045944positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
# GO_processGO:0046928regulation of neurotransmitter secretion; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0048167regulation of synaptic plasticity; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0048643positive regulation of skeletal muscle tissue development; IMP:UniProtKB.
# GO_processGO:0048666neuron development; ISS:UniProtKB.
# GO_processGO:0048667cell morphogenesis involved in neuron differentiation; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0048703embryonic viscerocranium morphogenesis; IEA:Ensembl.
# GO_processGO:0050680negative regulation of epithelial cell proliferation; IEA:Ensembl.
# GO_processGO:0050853B cell receptor signaling pathway; ISS:UniProtKB.
# GO_processGO:0051145smooth muscle cell differentiation; ISS:UniProtKB.
# GO_processGO:0051149positive regulation of muscle cell differentiation; TAS:Reactome.
# GO_processGO:0051963regulation of synapse assembly; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0051966regulation of synaptic transmission, glutamatergic; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0055012ventricular cardiac muscle cell differentiation; ISS:UniProtKB.
# GO_processGO:0060021palate development; IEA:Ensembl.
# GO_processGO:0060025regulation of synaptic activity; ISS:UniProtKB.
# GO_processGO:0060045positive regulation of cardiac muscle cell proliferation; ISS:UniProtKB.
# GO_processGO:0060079excitatory postsynaptic potential; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0060290transdifferentiation; IEA:Ensembl.
# GO_processGO:0060297regulation of sarcomere organization; IEA:Ensembl.
# GO_processGO:0060536cartilage morphogenesis; IEA:Ensembl.
# GO_processGO:0060998regulation of dendritic spine development; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:0061333renal tubule morphogenesis; ISS:UniProtKB.
# GO_processGO:0071222cellular response to lipopolysaccharide; ISS:UniProtKB.
# GO_processGO:0071277cellular response to calcium ion; ISS:UniProtKB.
# GO_processGO:0071300cellular response to retinoic acid; IEA:Ensembl.
# GO_processGO:0071333cellular response to glucose stimulus; IEA:Ensembl.
# GO_processGO:0071374cellular response to parathyroid hormone stimulus; IDA:UniProtKB.
# GO_processGO:0071498cellular response to fluid shear stress; ISS:UniProtKB.
# GO_processGO:0071560cellular response to transforming growth factor beta stimulus; IDA:UniProtKB.
# GO_processGO:0071864positive regulation of cell proliferation in bone marrow; IEA:Ensembl.
# GO_processGO:0072102glomerulus morphogenesis; ISS:UniProtKB.
# GO_processGO:0072160nephron tubule epithelial cell differentiation; ISS:UniProtKB.
# GO_processGO:0090073positive regulation of protein homodimerization activity; ISS:UniProtKB.
# GO_processGO:2000111positive regulation of macrophage apoptotic process; ISS:UniProtKB.
# GO_processGO:2000310regulation of N-methyl-D-aspartate selective glutamate receptor activity; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:2000311regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; ISS:Alzheimers_University_of_Toronto.
# GO_processGO:2000727positive regulation of cardiac muscle cell differentiation; IDA:UniProtKB.
# GO_processGO:2000987positive regulation of behavioral fear response; ISS:UniProtKB.
# GO_processGO:2001013epithelial cell proliferation involved in renal tubule morphogenesis; ISS:UniProtKB.
# GO_processGO:2001016positive regulation of skeletal muscle cell differentiation; IDA:UniProtKB.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005634nucleus
# GOslim_componentGO:0005654nucleoplasm
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005829cytosol
# GOslim_componentGO:0043226organelle
# GOslim_componentGO:0043234protein complex
# GOslim_functionGO:0001071nucleic acid binding transcription factor activity
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0003677DNA binding
# GOslim_functionGO:0003723RNA binding
# GOslim_functionGO:0008134transcription factor binding
# GOslim_processGO:0000902cell morphogenesis
# GOslim_processGO:0002376immune system process
# GOslim_processGO:0006464cellular protein modification process
# GOslim_processGO:0006950response to stress
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0008219cell death
# GOslim_processGO:0008283cell proliferation
# GOslim_processGO:0030154cell differentiation
# GOslim_processGO:0042592homeostatic process
# GOslim_processGO:0044403symbiosis, encompassing mutualism through parasitism
# GOslim_processGO:0048646anatomical structure formation involved in morphogenesis
# GOslim_processGO:0048856anatomical structure development
# GOslim_processGO:0048870cell motility
# GOslim_processGO:0050877neurological system process
# GenevisibleQ06413HS
# HGNCHGNC:6996MEF2C
# INTERACTIONMEF2C_HUMANQ9H1R3 MYLK2; NbExp=2; IntAct=EBI-2684075, EBI-356910;
# IntActQ0641318
# InterProIPR002100TF_MADSbox
# InterProIPR022102HJURP_C
# InterProIPR033896MADS_MEF2-like
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko03000 Transcription factors
# KEGG_DiseaseH00773[Congenital disorder; Mental retardation] Autosomal dominant mental retardation
# KEGG_DiseaseH01223[Developmental disorder] Chromosome 5q14.3 deletion syndrome
# KEGG_Pathwayko04010MAPK signaling pathway
# KEGG_Pathwayko05202Transcriptional misregulation in cancer
# MIM600662gene
# MIM613443phenotype
# OrganismMEF2C_HUMANHomo sapiens (Human)
# Orphanet2283845q14.3 microdeletion syndrome
# PIRA47284A47284
# PRINTSPR00404MADSDOMAIN
# PROSITEPS00350MADS_BOX_1
# PROSITEPS50066MADS_BOX_2
# PTMMEF2C_HUMANAcetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity). {ECO 0000250}.
# PTMMEF2C_HUMANPhosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity. {ECO 0000250, ECO 0000269|PubMed 10849446, ECO 0000269|PubMed 15340086, ECO 0000269|PubMed 15561718, ECO 0000269|PubMed 15743823, ECO 0000269|PubMed 16478538, ECO 0000269|PubMed 9069290, ECO 0000269|PubMed 9384584}.
# PTMMEF2C_HUMANProteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation. {ECO 0000269|PubMed 11904443}.
# PTMMEF2C_HUMANSumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity. {ECO 0000269|PubMed 15561718, ECO 0000269|PubMed 15743823, ECO 0000269|PubMed 16478538}.
# PfamPF00319SRF-TF
# PfamPF12347HJURP_C
# ProteomesUP000005640Chromosome 5
# ReactomeR-HSA-198753ERK/MAPK targets
# ReactomeR-HSA-2151201Transcriptional activation of mitochondrial biogenesis
# ReactomeR-HSA-375170CDO in myogenesis
# ReactomeR-HSA-400253Circadian Clock
# RecNameMEF2C_HUMANMyocyte-specific enhancer factor 2C
# RefSeqNP_001124477NM_001131005.2. [Q06413-6]
# RefSeqNP_001180276NM_001193347.1. [Q06413-5]
# RefSeqNP_001180277NM_001193348.1. [Q06413-4]
# RefSeqNP_001180278NM_001193349.1
# RefSeqNP_001180279NM_001193350.1. [Q06413-1]
# RefSeqNP_001294931NM_001308002.1. [Q06413-2]
# RefSeqNP_002388NM_002397.4. [Q06413-1]
# RefSeqXP_005248568XM_005248511.2. [Q06413-1]
# RefSeqXP_006714682XM_006714619.2. [Q06413-1]
# RefSeqXP_006714688XM_006714625.3. [Q06413-5]
# RefSeqXP_011541698XM_011543396.2. [Q06413-1]
# RefSeqXP_011541702XM_011543400.1. [Q06413-3]
# RefSeqXP_016864965XM_017009476.1. [Q06413-2]
# RefSeqXP_016864966XM_017009477.1. [Q06413-2]
# RefSeqXP_016864967XM_017009478.1. [Q06413-6]
# RefSeqXP_016864968XM_017009479.1. [Q06413-3]
# RefSeqXP_016864969XM_017009480.1. [Q06413-3]
# RefSeqXP_016864970XM_017009481.1. [Q06413-3]
# SIMILARITYBelongs to the MEF2 family. {ECO0000305}.
# SIMILARITYContains 1 MADS-box domain. {ECO:0000255|PROSITE- ProRulePRU00251}.
# SIMILARITYContains 1 Mef2-type DNA-binding domain. {ECO0000305}.
# SMARTSM00432MADS
# SUBCELLULAR LOCATIONMEF2C_HUMANNucleus.
# SUBUNITMEF2C_HUMANForms a complex with class II HDACs in undifferentiating cells. On myogenic differentiation, HDACs are released into the cytoplasm allowing MEF2s to interact with other proteins for activation. Interacts with EP300 in differentiating cells; the interaction acetylates MEF2C leading to increased DNA binding and activation (By similarity). Interacts with HDAC7 and CARM1 (By similarity). Interacts with HDAC4 and HDAC9; the interaction with HDACs represses transcriptional activity (PubMed 10523670, PubMed 11535832). Interacts with LPIN1. Interacts with MYOCD. Interacts with AKAP13 (By similarity). Interacts with FOXK1; the interaction inhibits MEF2C transactivation activity (By similarity). {ECO 0000250|UniProtKB Q8CFN5, ECO 0000269|PubMed 10523670, ECO 0000269|PubMed 11535832}.
# SUPFAMSSF55455SSF55455
# TISSUE SPECIFICITYExpressed in brain and skeletal muscle. {ECO:0000269|PubMed9798649}.
# UCSCuc003kjjhuman. [Q06413-1]
BLASTswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:MEF2C_HUMAN
BioCycZFISH:ENSG00000081189-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000081189-MONOMER
COXPRESdb4208http://coxpresdb.jp/data/gene/4208.shtml
CleanExHS_MEF2Chttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_MEF2C
DIPDIP-40857Nhttp://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-40857N
DOI10.1016/S0161-5890(98)00058-3http://dx.doi.org/10.1016/S0161-5890(98)00058-3
DOI10.1021/pr300630khttp://dx.doi.org/10.1021/pr300630k
DOI10.1038/386296a0http://dx.doi.org/10.1038/386296a0
DOI10.1038/nature02919http://dx.doi.org/10.1038/nature02919
DOI10.1073/pnas.022036399http://dx.doi.org/10.1073/pnas.022036399
DOI10.1073/pnas.191375098http://dx.doi.org/10.1073/pnas.191375098
DOI10.1073/pnas.90.4.1546http://dx.doi.org/10.1073/pnas.90.4.1546
DOI10.1074/jbc.M001573200http://dx.doi.org/10.1074/jbc.M001573200
DOI10.1074/jbc.M411718200http://dx.doi.org/10.1074/jbc.M411718200
DOI10.1074/jbc.M502491200http://dx.doi.org/10.1074/jbc.M502491200
DOI10.1093/emboj/16.23.7054http://dx.doi.org/10.1093/emboj/16.23.7054
DOI10.1128/MCB.13.4.2564http://dx.doi.org/10.1128/MCB.13.4.2564
DOI10.1128/MCB.19.11.7816http://dx.doi.org/10.1128/MCB.19.11.7816
DOI10.1128/MCB.24.18.8264-8275.2004http://dx.doi.org/10.1128/MCB.24.18.8264-8275.2004
DOI10.1128/MCB.25.6.2273-2287.2005http://dx.doi.org/10.1128/MCB.25.6.2273-2287.2005
DOI10.1128/MCB.25.9.3575-3582.2005http://dx.doi.org/10.1128/MCB.25.9.3575-3582.2005
DOI10.1136/jmg.2009.069732http://dx.doi.org/10.1136/jmg.2009.069732
DOI10.1186/1471-2091-7-5http://dx.doi.org/10.1186/1471-2091-7-5
DOI10.1186/1471-2164-8-399http://dx.doi.org/10.1186/1471-2164-8-399
EMBLAC008525http://www.ebi.ac.uk/ena/data/view/AC008525
EMBLAC008835http://www.ebi.ac.uk/ena/data/view/AC008835
EMBLAL833268http://www.ebi.ac.uk/ena/data/view/AL833268
EMBLAL833274http://www.ebi.ac.uk/ena/data/view/AL833274
EMBLFM163484http://www.ebi.ac.uk/ena/data/view/FM163484
EMBLL08895http://www.ebi.ac.uk/ena/data/view/L08895
EMBLS57212http://www.ebi.ac.uk/ena/data/view/S57212
EnsemblENST00000340208http://www.ensembl.org/id/ENST00000340208
EnsemblENST00000424173http://www.ensembl.org/id/ENST00000424173
EnsemblENST00000437473http://www.ensembl.org/id/ENST00000437473
EnsemblENST00000504921http://www.ensembl.org/id/ENST00000504921
EnsemblENST00000508569http://www.ensembl.org/id/ENST00000508569
EnsemblENST00000514015http://www.ensembl.org/id/ENST00000514015
EnsemblENST00000514028http://www.ensembl.org/id/ENST00000514028
EnsemblENST00000625674http://www.ensembl.org/id/ENST00000625674
EnsemblENST00000628656http://www.ensembl.org/id/ENST00000628656
EnsemblENST00000629612http://www.ensembl.org/id/ENST00000629612
EnsemblENST00000636294http://www.ensembl.org/id/ENST00000636294
EnsemblENST00000636998http://www.ensembl.org/id/ENST00000636998
EnsemblENST00000637732http://www.ensembl.org/id/ENST00000637732
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GO_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GO_componentGO:0016607http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016607
GO_componentGO:0043231http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231
GO_componentGO:0043234http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234
GO_componentGO:0098794http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098794
GO_functionGO:0000977http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000977
GO_functionGO:0000978http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000978
GO_functionGO:0000980http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000980
GO_functionGO:0000981http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000981
GO_functionGO:0000983http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000983
GO_functionGO:0001046http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001046
GO_functionGO:0001077http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001077
GO_functionGO:0001205http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001205
GO_functionGO:0003677http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677
GO_functionGO:0003680http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003680
GO_functionGO:0003682http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003682
GO_functionGO:0003700http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003700
GO_functionGO:0033613http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033613
GO_functionGO:0035198http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035198
GO_functionGO:0044212http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044212
GO_functionGO:0046982http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982
GO_processGO:0000122http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000122
GO_processGO:0000165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000165
GO_processGO:0001568http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001568
GO_processGO:0001649http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001649
GO_processGO:0001764http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001764
GO_processGO:0001782http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001782
GO_processGO:0001947http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001947
GO_processGO:0001958http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001958
GO_processGO:0001974http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001974
GO_processGO:0002062http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002062
GO_processGO:0002467http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002467
GO_processGO:0002634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002634
GO_processGO:0002931http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002931
GO_processGO:0003138http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003138
GO_processGO:0003139http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003139
GO_processGO:0003151http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003151
GO_processGO:0003185http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003185
GO_processGO:0003211http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003211
GO_processGO:0006355http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006355
GO_processGO:0006915http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915
GO_processGO:0006959http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006959
GO_processGO:0007399http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399
GO_processGO:0007507http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007507
GO_processGO:0007517http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007517
GO_processGO:0007519http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007519
GO_processGO:0007521http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007521
GO_processGO:0007611http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007611
GO_processGO:0009615http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009615
GO_processGO:0010628http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010628
GO_processGO:0010629http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010629
GO_processGO:0010694http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010694
GO_processGO:0014033http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014033
GO_processGO:0014898http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014898
GO_processGO:0014902http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0014902
GO_processGO:0021542http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021542
GO_processGO:0030182http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030182
GO_processGO:0030220http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030220
GO_processGO:0030224http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030224
GO_processGO:0030279http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030279
GO_processGO:0030318http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030318
GO_processGO:0030501http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030501
GO_processGO:0030890http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030890
GO_processGO:0033197http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033197
GO_processGO:0035690http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035690
GO_processGO:0035914http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035914
GO_processGO:0035984http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035984
GO_processGO:0042100http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042100
GO_processGO:0043406http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043406
GO_processGO:0043523http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043523
GO_processGO:0043524http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043524
GO_processGO:0045652http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045652
GO_processGO:0045663http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045663
GO_processGO:0045666http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045666
GO_processGO:0045669http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045669
GO_processGO:0045893http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045893
GO_processGO:0045944http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944
GO_processGO:0046928http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046928
GO_processGO:0048167http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048167
GO_processGO:0048643http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048643
GO_processGO:0048666http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048666
GO_processGO:0048667http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048667
GO_processGO:0048703http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048703
GO_processGO:0050680http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050680
GO_processGO:0050853http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050853
GO_processGO:0051145http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051145
GO_processGO:0051149http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051149
GO_processGO:0051963http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051963
GO_processGO:0051966http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051966
GO_processGO:0055012http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055012
GO_processGO:0060021http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060021
GO_processGO:0060025http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060025
GO_processGO:0060045http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060045
GO_processGO:0060079http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060079
GO_processGO:0060290http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060290
GO_processGO:0060297http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060297
GO_processGO:0060536http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060536
GO_processGO:0060998http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060998
GO_processGO:0061333http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061333
GO_processGO:0071222http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071222
GO_processGO:0071277http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071277
GO_processGO:0071300http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071300
GO_processGO:0071333http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071333
GO_processGO:0071374http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071374
GO_processGO:0071498http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071498
GO_processGO:0071560http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071560
GO_processGO:0071864http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071864
GO_processGO:0072102http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072102
GO_processGO:0072160http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0072160
GO_processGO:0090073http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090073
GO_processGO:2000111http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000111
GO_processGO:2000310http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000310
GO_processGO:2000311http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000311
GO_processGO:2000727http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000727
GO_processGO:2000987http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000987
GO_processGO:2001013http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001013
GO_processGO:2001016http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2001016
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GOslim_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GOslim_componentGO:0043226http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226
GOslim_componentGO:0043234http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234
GOslim_functionGO:0001071http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001071
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0003677http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003677
GOslim_functionGO:0003723http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723
GOslim_functionGO:0008134http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008134
GOslim_processGO:0000902http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000902
GOslim_processGO:0002376http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376
GOslim_processGO:0006464http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464
GOslim_processGO:0006950http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0008219http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219
GOslim_processGO:0008283http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008283
GOslim_processGO:0030154http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154
GOslim_processGO:0042592http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592
GOslim_processGO:0044403http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403
GOslim_processGO:0048646http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646
GOslim_processGO:0048856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856
GOslim_processGO:0048870http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048870
GOslim_processGO:0050877http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877
GeneCardsMEF2Chttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=MEF2C
GeneID4208http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4208
GeneTreeENSGT00390000011828http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000011828
HGNCHGNC:6996http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:6996
HOGENOMHOG000230620http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000230620&db=HOGENOM6
HOVERGENHBG053944http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053944&db=HOVERGEN
HPACAB068196http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB068196
HPACAB068197http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB068197
HPAHPA003214http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA003214
HPAHPA005533http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA005533
InParanoidQ06413http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q06413
IntActQ06413http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q06413*
InterProIPR002100http://www.ebi.ac.uk/interpro/entry/IPR002100
InterProIPR022102http://www.ebi.ac.uk/interpro/entry/IPR022102
InterProIPR033896http://www.ebi.ac.uk/interpro/entry/IPR033896
Jabion4208http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=4208
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko03000http://www.genome.jp/dbget-bin/www_bget?ko03000
KEGG_DiseaseH00773http://www.genome.jp/dbget-bin/www_bget?H00773
KEGG_DiseaseH01223http://www.genome.jp/dbget-bin/www_bget?H01223
KEGG_Genehsa:4208http://www.genome.jp/dbget-bin/www_bget?hsa:4208
KEGG_OrthologyKO:K04454http://www.genome.jp/dbget-bin/www_bget?KO:K04454
KEGG_Pathwayko04010http://www.genome.jp/kegg-bin/show_pathway?ko04010
KEGG_Pathwayko05202http://www.genome.jp/kegg-bin/show_pathway?ko05202
MIM600662http://www.ncbi.nlm.nih.gov/omim/600662
MIM613443http://www.ncbi.nlm.nih.gov/omim/613443
MINTMINT-125556http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-125556
OMASSHLCQGhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=SSHLCQG
Orphanet228384http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=228384
OrthoDBEOG091G05BYhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G05BY
PRINTSPR00404http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00404
PROSITEPS00350http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00350
PROSITEPS50066http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50066
PSORT-Bswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:MEF2C_HUMAN
PSORT2swissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:MEF2C_HUMAN
PSORTswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:MEF2C_HUMAN
PfamPF00319http://pfam.xfam.org/family/PF00319
PfamPF12347http://pfam.xfam.org/family/PF12347
PharmGKBPA30734http://www.pharmgkb.org/do/serve?objId=PA30734&objCls=Gene
Phobiusswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:MEF2C_HUMAN
PhylomeDBQ06413http://phylomedb.org/?seqid=Q06413
ProteinModelPortalQ06413http://www.proteinmodelportal.org/query/uniprot/Q06413
PubMed10523670http://www.ncbi.nlm.nih.gov/pubmed/10523670
PubMed10849446http://www.ncbi.nlm.nih.gov/pubmed/10849446
PubMed11535832http://www.ncbi.nlm.nih.gov/pubmed/11535832
PubMed11904443http://www.ncbi.nlm.nih.gov/pubmed/11904443
PubMed15340086http://www.ncbi.nlm.nih.gov/pubmed/15340086
PubMed15372022http://www.ncbi.nlm.nih.gov/pubmed/15372022
PubMed15561718http://www.ncbi.nlm.nih.gov/pubmed/15561718
PubMed15743823http://www.ncbi.nlm.nih.gov/pubmed/15743823
PubMed15831463http://www.ncbi.nlm.nih.gov/pubmed/15831463
PubMed15834131http://www.ncbi.nlm.nih.gov/pubmed/15834131
PubMed16478538http://www.ncbi.nlm.nih.gov/pubmed/16478538
PubMed17974005http://www.ncbi.nlm.nih.gov/pubmed/17974005
PubMed19592390http://www.ncbi.nlm.nih.gov/pubmed/19592390
PubMed23186163http://www.ncbi.nlm.nih.gov/pubmed/23186163
PubMed7679508http://www.ncbi.nlm.nih.gov/pubmed/7679508
PubMed8455629http://www.ncbi.nlm.nih.gov/pubmed/8455629
PubMed9069290http://www.ncbi.nlm.nih.gov/pubmed/9069290
PubMed9384584http://www.ncbi.nlm.nih.gov/pubmed/9384584
PubMed9798649http://www.ncbi.nlm.nih.gov/pubmed/9798649
ReactomeR-HSA-198753http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-198753
ReactomeR-HSA-2151201http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2151201
ReactomeR-HSA-375170http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-375170
ReactomeR-HSA-400253http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-400253
RefSeqNP_001124477http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001124477
RefSeqNP_001180276http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180276
RefSeqNP_001180277http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180277
RefSeqNP_001180278http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180278
RefSeqNP_001180279http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001180279
RefSeqNP_001294931http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001294931
RefSeqNP_002388http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002388
RefSeqXP_005248568http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005248568
RefSeqXP_006714682http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006714682
RefSeqXP_006714688http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_006714688
RefSeqXP_011541698http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541698
RefSeqXP_011541702http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_011541702
RefSeqXP_016864965http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864965
RefSeqXP_016864966http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864966
RefSeqXP_016864967http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864967
RefSeqXP_016864968http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864968
RefSeqXP_016864969http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864969
RefSeqXP_016864970http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016864970
SMARTSM00432http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00432
SMRQ06413http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q06413
SUPFAMSSF55455http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF55455
UCSCuc003kjjhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003kjj&org=rat
UniGeneHs.649965http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.649965
UniProtKB-ACQ06413http://www.uniprot.org/uniprot/Q06413
UniProtKBMEF2C_HUMANhttp://www.uniprot.org/uniprot/MEF2C_HUMAN
chargeswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:MEF2C_HUMAN
epestfindswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:MEF2C_HUMAN
garnierswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:MEF2C_HUMAN
helixturnhelixswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:MEF2C_HUMAN
hmomentswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:MEF2C_HUMAN
iepswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:MEF2C_HUMAN
inforesidueswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:MEF2C_HUMAN
neXtProtNX_Q06413http://www.nextprot.org/db/entry/NX_Q06413
octanolswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:MEF2C_HUMAN
pepcoilswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:MEF2C_HUMAN
pepdigestswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:MEF2C_HUMAN
pepinfoswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:MEF2C_HUMAN
pepnetswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:MEF2C_HUMAN
pepstatsswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:MEF2C_HUMAN
pepwheelswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:MEF2C_HUMAN
pepwindowswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:MEF2C_HUMAN
sigcleaveswissprot:MEF2C_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:MEF2C_HUMAN
DataBaseIDURL or Descriptions
# AltNameDHI1_HUMAN11-beta-hydroxysteroid dehydrogenase 1
# AltNameDHI1_HUMANShort chain dehydrogenase/reductase family 26C member 1
# BRENDA1.1.1.1462681
# BRENDA1.1.1.B402681
# BioGrid10952315
# CATALYTIC ACTIVITYDHI1_HUMANAn 11-beta-hydroxysteroid + NADP(+) = an 11- oxosteroid + NADPH. {ECO 0000269|PubMed 10497248, ECO 0000269|PubMed 15152005, ECO 0000269|PubMed 17070044, ECO 0000269|PubMed 17919905}.
# ChiTaRSHSD11B1human
# DISEASEDHI1_HUMANCortisone reductase deficiency (CRD) [MIM 604931] In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS). {ECO 0000269|PubMed 12858176}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DrugBankDB00635Prednisone
# EnsemblENST00000367027ENSP00000355994; ENSG00000117594
# EnsemblENST00000367028ENSP00000355995; ENSG00000117594
# ExpressionAtlasP28845baseline and differential
# FUNCTIONDHI1_HUMANCatalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7- ketocholesterol to 7-beta-hydroxycholesterol (By similarity). {ECO 0000250}.
# GO_componentGO:0005789endoplasmic reticulum membrane; TAS:Reactome.
# GO_componentGO:0016020membrane; IDA:UniProtKB.
# GO_componentGO:0016021integral component of membrane; IEA:UniProtKB-KW.
# GO_functionGO:000384511-beta-hydroxysteroid dehydrogenase [NAD(P)] activity; TAS:Reactome.
# GO_functionGO:007052411-beta-hydroxysteroid dehydrogenase (NADP+) activity; IEA:UniProtKB-EC.
# GO_processGO:0006704glucocorticoid biosynthetic process; TAS:Reactome.
# GO_processGO:0030324lung development; IEA:Ensembl.
# GOslim_componentGO:0005575cellular_component
# GOslim_functionGO:0016491oxidoreductase activity
# GOslim_processGO:0006629lipid metabolic process
# GOslim_processGO:0009058biosynthetic process
# GOslim_processGO:0048856anatomical structure development
# Gene3D3.40.50.720-; 1.
# GenevisibleP28845HS
# HGNCHGNC:5208HSD11B1
# InterProIPR002347SDR_fam
# InterProIPR016040NAD(P)-bd_dom
# InterProIPR020904Sc_DH/Rdtase_CS
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko00002 KEGG pathway modules
# KEGG_Briteko01000 Enzymes
# KEGG_DiseaseH01111[Inherited metabolic disease; Endocrine disease] Cortisone reductase deficiency (CRD)
# KEGG_Pathwayko00140Steroid hormone biosynthesis
# KEGG_Pathwayko00980Metabolism of xenobiotics by cytochrome P450
# KEGG_Pathwayko05204Chemical carcinogenesis
# MIM600713gene
# MIM604931phenotype
# OrganismDHI1_HUMANHomo sapiens (Human)
# Orphanet168588Hyperandrogenism due to cortisone reductase deficiency
# PANTHERPTHR24322PTHR24322; 2
# PDB1XU7X-ray; 1.80 A; A/B/C/D=24-292
# PDB1XU9X-ray; 1.55 A; A/B/C/D=24-292
# PDB2BELX-ray; 2.11 A; A/B/C/D=26-284
# PDB2ILTX-ray; 2.30 A; A=24-285
# PDB2IRWX-ray; 3.10 A; A/B/C/D/E/F/G/H=26-289
# PDB2RBEX-ray; 1.90 A; A/B/C/D=25-292
# PDB3BYZX-ray; 2.69 A; A/B/C/D=25-292
# PDB3BZUX-ray; 2.25 A; A/B/C/D=24-292
# PDB3CH6X-ray; 2.35 A; A/B/D/E=24-292
# PDB3CZRX-ray; 2.35 A; A/B=24-292
# PDB3D3EX-ray; 2.60 A; A/B/C/D=24-292
# PDB3D4NX-ray; 2.50 A; A/B/C/D=24-292
# PDB3D5QX-ray; 2.55 A; A/B/C/D=24-292
# PDB3EY4X-ray; 3.00 A; A/B/C/D=25-292
# PDB3FCOX-ray; 2.65 A; A/B=24-291
# PDB3FRJX-ray; 2.30 A; A/B=24-292
# PDB3H6KX-ray; 2.19 A; A/B/C/D=24-292
# PDB3HFGX-ray; 2.30 A; A/B/C/D=24-292
# PDB3OQ1X-ray; 2.60 A; A/B/C/D=24-292
# PDB3PDJX-ray; 2.30 A; A/B=24-292
# PDB3QQPX-ray; 2.72 A; A/B/C/D=24-292
# PDB3TFQX-ray; 1.80 A; A/B/D/E=24-292
# PDB4BB5X-ray; 2.20 A; A/B/C/D=1-292
# PDB4BB6X-ray; 2.55 A; A/B=1-292
# PDB4C7JX-ray; 2.16 A; A/B/C/D=24-292
# PDB4C7KX-ray; 1.91 A; A/B/C/D=24-292
# PDB4HFRX-ray; 2.73 A; A/B=24-292
# PDB4HX5X-ray; 2.19 A; A/B/C/D=24-292
# PDB4IJUX-ray; 2.35 A; A/B/D/E=24-292
# PDB4IJVX-ray; 2.35 A; A/B/D/E=24-292
# PDB4IJWX-ray; 2.35 A; A/B/D/E=24-292
# PDB4K1LX-ray; 1.96 A; A/B/C/D=24-292
# PDB4P38X-ray; 2.80 A; A/B=26-290
# PDB4YYZX-ray; 3.20 A; A/B=26-284
# PIRA41173DXHUBH
# PRINTSPR00081GDHRDH
# PROSITEPS00061ADH_SHORT
# PTMDHI1_HUMANGlycosylated. {ECO 0000269|PubMed 10497248, ECO 0000269|PubMed 19159218}.
# PfamPF00106adh_short
# ProteomesUP000005640Chromosome 1
# ReactomeR-HSA-194002Glucocorticoid biosynthesis
# RecNameDHI1_HUMANCorticosteroid 11-beta-dehydrogenase isozyme 1
# RefSeqNP_001193670NM_001206741.1
# RefSeqNP_005516NM_005525.3
# RefSeqNP_861420NM_181755.2
# SIMILARITYBelongs to the short-chain dehydrogenases/reductases (SDR) family. {ECO0000305}.
# SUBCELLULAR LOCATIONDHI1_HUMANEndoplasmic reticulum membrane {ECO 0000269|PubMed 10497248}; Single-pass type II membrane protein {ECO 0000269|PubMed 10497248}.
# SUBUNITDHI1_HUMANHomodimer. {ECO 0000269|PubMed 15513927, ECO 0000269|PubMed 17919905, ECO 0000269|PubMed 18069989, ECO 0000269|PubMed 18485702, ECO 0000269|PubMed 18553955, ECO 0000269|PubMed 19217779}.
# SUPFAMSSF51735SSF51735
# TISSUE SPECIFICITYDHI1_HUMANWidely expressed. Highest expression in liver.
# eggNOGCOG1028LUCA
# eggNOGKOG1205Eukaryota
BLASTswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:DHI1_HUMAN
BioCycMetaCyc:HS04154-MONOMERhttp://biocyc.org/getid?id=MetaCyc:HS04154-MONOMER
BioCycZFISH:HS04154-MONOMERhttp://biocyc.org/getid?id=ZFISH:HS04154-MONOMER
COXPRESdb3290http://coxpresdb.jp/data/gene/3290.shtml
CleanExHS_HSD11B1http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_HSD11B1
DIPDIP-59618Nhttp://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-59618N
DOI10.1016/j.bmcl.2006.10.008http://dx.doi.org/10.1016/j.bmcl.2006.10.008
DOI10.1016/j.bmcl.2007.09.070http://dx.doi.org/10.1016/j.bmcl.2007.09.070
DOI10.1016/j.bmcl.2008.04.069http://dx.doi.org/10.1016/j.bmcl.2008.04.069
DOI10.1016/j.bmcl.2009.01.058http://dx.doi.org/10.1016/j.bmcl.2009.01.058
DOI10.1016/j.jprot.2013.11.014http://dx.doi.org/10.1016/j.jprot.2013.11.014
DOI10.1021/jm800310ghttp://dx.doi.org/10.1021/jm800310g
DOI10.1021/pr8008012http://dx.doi.org/10.1021/pr8008012
DOI10.1038/nature04727http://dx.doi.org/10.1038/nature04727
DOI10.1038/ng1214http://dx.doi.org/10.1038/ng1214
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1074/jbc.274.40.28762http://dx.doi.org/10.1074/jbc.274.40.28762
DOI10.1074/jbc.M313666200http://dx.doi.org/10.1074/jbc.M313666200
DOI10.1074/jbc.M411104200http://dx.doi.org/10.1074/jbc.M411104200
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1111/j.1747-0285.2007.00603.xhttp://dx.doi.org/10.1111/j.1747-0285.2007.00603.x
DOI10.1126/science.1133427http://dx.doi.org/10.1126/science.1133427
DOI10.1210/jc.2001-011375http://dx.doi.org/10.1210/jc.2001-011375
DrugBankDB00635http://www.drugbank.ca/drugs/DB00635
EC_numberEC:1.1.1.146http://www.genome.jp/dbget-bin/www_bget?EC:1.1.1.146
EMBLAK313973http://www.ebi.ac.uk/ena/data/view/AK313973
EMBLAL022398http://www.ebi.ac.uk/ena/data/view/AL022398
EMBLAL022398http://www.ebi.ac.uk/ena/data/view/AL022398
EMBLAL031316http://www.ebi.ac.uk/ena/data/view/AL031316
EMBLAL031316http://www.ebi.ac.uk/ena/data/view/AL031316
EMBLAY044083http://www.ebi.ac.uk/ena/data/view/AY044083
EMBLAY044084http://www.ebi.ac.uk/ena/data/view/AY044084
EMBLBC012593http://www.ebi.ac.uk/ena/data/view/BC012593
EMBLCH471100http://www.ebi.ac.uk/ena/data/view/CH471100
EMBLCH471100http://www.ebi.ac.uk/ena/data/view/CH471100
EMBLM76661http://www.ebi.ac.uk/ena/data/view/M76661
EMBLM76662http://www.ebi.ac.uk/ena/data/view/M76662
EMBLM76663http://www.ebi.ac.uk/ena/data/view/M76663
EMBLM76664http://www.ebi.ac.uk/ena/data/view/M76664
EMBLM76665http://www.ebi.ac.uk/ena/data/view/M76665
ENZYME1.1.1.146http://enzyme.expasy.org/EC/1.1.1.146
EnsemblENST00000367027http://www.ensembl.org/id/ENST00000367027
EnsemblENST00000367028http://www.ensembl.org/id/ENST00000367028
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005789http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789
GO_componentGO:0016020http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020
GO_componentGO:0016021http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021
GO_functionGO:0003845http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003845
GO_functionGO:0070524http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070524
GO_processGO:0006704http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006704
GO_processGO:0030324http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030324
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_functionGO:0016491http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491
GOslim_processGO:0006629http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629
GOslim_processGO:0009058http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058
GOslim_processGO:0048856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856
Gene3D3.40.50.720http://www.cathdb.info/version/latest/superfamily/3.40.50.720
GeneCardsHSD11B1http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=HSD11B1
GeneID3290http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3290
GeneTreeENSGT00860000133821http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00860000133821
HGNCHGNC:5208http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:5208
HOGENOMHOG000010276http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000010276&db=HOGENOM6
HOVERGENHBG005481http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005481&db=HOVERGEN
HPAHPA047729http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047729
InParanoidP28845http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P28845
IntActP28845http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P28845*
IntEnz1.1.1.146http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.1.1.146
InterProIPR002347http://www.ebi.ac.uk/interpro/entry/IPR002347
InterProIPR016040http://www.ebi.ac.uk/interpro/entry/IPR016040
InterProIPR020904http://www.ebi.ac.uk/interpro/entry/IPR020904
Jabion3290http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=3290
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko00002http://www.genome.jp/dbget-bin/www_bget?ko00002
KEGG_Briteko01000http://www.genome.jp/dbget-bin/www_bget?ko01000
KEGG_DiseaseH01111http://www.genome.jp/dbget-bin/www_bget?H01111
KEGG_Genehsa:3290http://www.genome.jp/dbget-bin/www_bget?hsa:3290
KEGG_OrthologyKO:K15680http://www.genome.jp/dbget-bin/www_bget?KO:K15680
KEGG_Pathwayko00140http://www.genome.jp/kegg-bin/show_pathway?ko00140
KEGG_Pathwayko00980http://www.genome.jp/kegg-bin/show_pathway?ko00980
KEGG_Pathwayko05204http://www.genome.jp/kegg-bin/show_pathway?ko05204
KEGG_Reactionrn:R02836http://www.genome.jp/dbget-bin/www_bget?rn:R02836
KEGG_Reactionrn:R03848http://www.genome.jp/dbget-bin/www_bget?rn:R03848
KEGG_Reactionrn:R04758http://www.genome.jp/dbget-bin/www_bget?rn:R04758
KEGG_Reactionrn:R04840http://www.genome.jp/dbget-bin/www_bget?rn:R04840
KEGG_Reactionrn:R09420http://www.genome.jp/dbget-bin/www_bget?rn:R09420
MIM600713http://www.ncbi.nlm.nih.gov/omim/600713
MIM604931http://www.ncbi.nlm.nih.gov/omim/604931
OMAFMAYYYYhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=FMAYYYY
Orphanet168588http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168588
OrthoDBEOG091G0H0Rhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G0H0R
PANTHERPTHR24322http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24322
PDB1XU7http://www.ebi.ac.uk/pdbe-srv/view/entry/1XU7
PDB1XU9http://www.ebi.ac.uk/pdbe-srv/view/entry/1XU9
PDB2BELhttp://www.ebi.ac.uk/pdbe-srv/view/entry/2BEL
PDB2ILThttp://www.ebi.ac.uk/pdbe-srv/view/entry/2ILT
PDB2IRWhttp://www.ebi.ac.uk/pdbe-srv/view/entry/2IRW
PDB2RBEhttp://www.ebi.ac.uk/pdbe-srv/view/entry/2RBE
PDB3BYZhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3BYZ
PDB3BZUhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3BZU
PDB3CH6http://www.ebi.ac.uk/pdbe-srv/view/entry/3CH6
PDB3CZRhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3CZR
PDB3D3Ehttp://www.ebi.ac.uk/pdbe-srv/view/entry/3D3E
PDB3D4Nhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3D4N
PDB3D5Qhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3D5Q
PDB3EY4http://www.ebi.ac.uk/pdbe-srv/view/entry/3EY4
PDB3FCOhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3FCO
PDB3FRJhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3FRJ
PDB3H6Khttp://www.ebi.ac.uk/pdbe-srv/view/entry/3H6K
PDB3HFGhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3HFG
PDB3OQ1http://www.ebi.ac.uk/pdbe-srv/view/entry/3OQ1
PDB3PDJhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3PDJ
PDB3QQPhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3QQP
PDB3TFQhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3TFQ
PDB4BB5http://www.ebi.ac.uk/pdbe-srv/view/entry/4BB5
PDB4BB6http://www.ebi.ac.uk/pdbe-srv/view/entry/4BB6
PDB4C7Jhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4C7J
PDB4C7Khttp://www.ebi.ac.uk/pdbe-srv/view/entry/4C7K
PDB4HFRhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4HFR
PDB4HX5http://www.ebi.ac.uk/pdbe-srv/view/entry/4HX5
PDB4IJUhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4IJU
PDB4IJVhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4IJV
PDB4IJWhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4IJW
PDB4K1Lhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4K1L
PDB4P38http://www.ebi.ac.uk/pdbe-srv/view/entry/4P38
PDB4YYZhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4YYZ
PDBsum1XU7http://www.ebi.ac.uk/pdbsum/1XU7
PDBsum1XU9http://www.ebi.ac.uk/pdbsum/1XU9
PDBsum2BELhttp://www.ebi.ac.uk/pdbsum/2BEL
PDBsum2ILThttp://www.ebi.ac.uk/pdbsum/2ILT
PDBsum2IRWhttp://www.ebi.ac.uk/pdbsum/2IRW
PDBsum2RBEhttp://www.ebi.ac.uk/pdbsum/2RBE
PDBsum3BYZhttp://www.ebi.ac.uk/pdbsum/3BYZ
PDBsum3BZUhttp://www.ebi.ac.uk/pdbsum/3BZU
PDBsum3CH6http://www.ebi.ac.uk/pdbsum/3CH6
PDBsum3CZRhttp://www.ebi.ac.uk/pdbsum/3CZR
PDBsum3D3Ehttp://www.ebi.ac.uk/pdbsum/3D3E
PDBsum3D4Nhttp://www.ebi.ac.uk/pdbsum/3D4N
PDBsum3D5Qhttp://www.ebi.ac.uk/pdbsum/3D5Q
PDBsum3EY4http://www.ebi.ac.uk/pdbsum/3EY4
PDBsum3FCOhttp://www.ebi.ac.uk/pdbsum/3FCO
PDBsum3FRJhttp://www.ebi.ac.uk/pdbsum/3FRJ
PDBsum3H6Khttp://www.ebi.ac.uk/pdbsum/3H6K
PDBsum3HFGhttp://www.ebi.ac.uk/pdbsum/3HFG
PDBsum3OQ1http://www.ebi.ac.uk/pdbsum/3OQ1
PDBsum3PDJhttp://www.ebi.ac.uk/pdbsum/3PDJ
PDBsum3QQPhttp://www.ebi.ac.uk/pdbsum/3QQP
PDBsum3TFQhttp://www.ebi.ac.uk/pdbsum/3TFQ
PDBsum4BB5http://www.ebi.ac.uk/pdbsum/4BB5
PDBsum4BB6http://www.ebi.ac.uk/pdbsum/4BB6
PDBsum4C7Jhttp://www.ebi.ac.uk/pdbsum/4C7J
PDBsum4C7Khttp://www.ebi.ac.uk/pdbsum/4C7K
PDBsum4HFRhttp://www.ebi.ac.uk/pdbsum/4HFR
PDBsum4HX5http://www.ebi.ac.uk/pdbsum/4HX5
PDBsum4IJUhttp://www.ebi.ac.uk/pdbsum/4IJU
PDBsum4IJVhttp://www.ebi.ac.uk/pdbsum/4IJV
PDBsum4IJWhttp://www.ebi.ac.uk/pdbsum/4IJW
PDBsum4K1Lhttp://www.ebi.ac.uk/pdbsum/4K1L
PDBsum4P38http://www.ebi.ac.uk/pdbsum/4P38
PDBsum4YYZhttp://www.ebi.ac.uk/pdbsum/4YYZ
PRINTSPR00081http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00081
PROSITEPS00061http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00061
PSORT-Bswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:DHI1_HUMAN
PSORT2swissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:DHI1_HUMAN
PSORTswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:DHI1_HUMAN
PfamPF00106http://pfam.xfam.org/family/PF00106
PharmGKBPA29476http://www.pharmgkb.org/do/serve?objId=PA29476&objCls=Gene
Phobiusswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:DHI1_HUMAN
PhylomeDBP28845http://phylomedb.org/?seqid=P28845
ProteinModelPortalP28845http://www.proteinmodelportal.org/query/uniprot/P28845
PubMed10497248http://www.ncbi.nlm.nih.gov/pubmed/10497248
PubMed12414862http://www.ncbi.nlm.nih.gov/pubmed/12414862
PubMed12858176http://www.ncbi.nlm.nih.gov/pubmed/12858176
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15152005http://www.ncbi.nlm.nih.gov/pubmed/15152005
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15513927http://www.ncbi.nlm.nih.gov/pubmed/15513927
PubMed16710414http://www.ncbi.nlm.nih.gov/pubmed/16710414
PubMed16959974http://www.ncbi.nlm.nih.gov/pubmed/16959974
PubMed17070044http://www.ncbi.nlm.nih.gov/pubmed/17070044
PubMed17919905http://www.ncbi.nlm.nih.gov/pubmed/17919905
PubMed18069989http://www.ncbi.nlm.nih.gov/pubmed/18069989
PubMed18485702http://www.ncbi.nlm.nih.gov/pubmed/18485702
PubMed18553955http://www.ncbi.nlm.nih.gov/pubmed/18553955
PubMed1885595http://www.ncbi.nlm.nih.gov/pubmed/1885595
PubMed19159218http://www.ncbi.nlm.nih.gov/pubmed/19159218
PubMed19217779http://www.ncbi.nlm.nih.gov/pubmed/19217779
PubMed24275569http://www.ncbi.nlm.nih.gov/pubmed/24275569
ReactomeR-HSA-194002http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-194002
RefSeqNP_001193670http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001193670
RefSeqNP_005516http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_005516
RefSeqNP_861420http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_861420
SMRP28845http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P28845
STRING9606.ENSP00000261465http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000261465&targetmode=cogs
SUPFAMSSF51735http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF51735
UniGeneHs.195040http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.195040
UniProtKB-ACP28845http://www.uniprot.org/uniprot/P28845
UniProtKBDHI1_HUMANhttp://www.uniprot.org/uniprot/DHI1_HUMAN
chargeswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:DHI1_HUMAN
eggNOGCOG1028http://eggnogapi.embl.de/nog_data/html/tree/COG1028
eggNOGKOG1205http://eggnogapi.embl.de/nog_data/html/tree/KOG1205
epestfindswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:DHI1_HUMAN
garnierswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:DHI1_HUMAN
helixturnhelixswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:DHI1_HUMAN
hmomentswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:DHI1_HUMAN
iepswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:DHI1_HUMAN
inforesidueswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:DHI1_HUMAN
neXtProtNX_P28845http://www.nextprot.org/db/entry/NX_P28845
octanolswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:DHI1_HUMAN
pepcoilswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:DHI1_HUMAN
pepdigestswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:DHI1_HUMAN
pepinfoswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:DHI1_HUMAN
pepnetswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:DHI1_HUMAN
pepstatsswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:DHI1_HUMAN
pepwheelswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:DHI1_HUMAN
pepwindowswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:DHI1_HUMAN
sigcleaveswissprot:DHI1_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:DHI1_HUMAN
DataBaseIDURL or Descriptions
# AltNameABHD5_HUMANAbhydrolase domain-containing protein 5
# AltNameABHD5_HUMANLipid droplet-binding protein CGI-58
# BioGrid11928812
# CATALYTIC ACTIVITYAcyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate. {ECO:0000269|PubMed18606822}.
# DEVELOPMENTAL STAGEDetected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level). {ECO:0000269|PubMed18832586}.
# DISEASEABHD5_HUMANChanarin-Dorfman syndrome (CDS) [MIM 275630] An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma. {ECO 0000269|PubMed 11590543, ECO 0000269|PubMed 17495960}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DOMAINABHD5_HUMANThe HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate. {ECO 0000250}.
# ESTHERhuman-ABHD5CGI-58_ABHD5_ABHD4
# EnsemblENST00000458276ENSP00000390849; ENSG00000011198
# ExpressionAtlasQ8WTS1baseline and differential
# FUNCTIONABHD5_HUMANLysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis (PubMed 18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed 16679289). Involved in keratinocyte differentiation (PubMed 18832586). Regulates lipid droplet fusion (By similarity). {ECO 0000250|UniProtKB Q9DBL9, ECO 0000269|PubMed 16679289, ECO 0000269|PubMed 18606822, ECO 0000269|PubMed 18832586}.
# GO_componentGO:0005634nucleus; IDA:HPA.
# GO_componentGO:0005737cytoplasm; IDA:HPA.
# GO_componentGO:0005811lipid particle; IDA:UniProtKB.
# GO_componentGO:0005829cytosol; ISS:UniProtKB.
# GO_componentGO:0043231intracellular membrane-bounded organelle; IDA:HPA.
# GO_functionGO:00038411-acylglycerol-3-phosphate O-acyltransferase activity; IEA:UniProtKB-EC.
# GO_functionGO:0042171lysophosphatidic acid acyltransferase activity; IDA:UniProtKB.
# GO_functionGO:0052689carboxylic ester hydrolase activity; IBA:GO_Central.
# GO_processGO:0006631fatty acid metabolic process; IEA:UniProtKB-KW.
# GO_processGO:0006654phosphatidic acid biosynthetic process; IDA:UniProtKB.
# GO_processGO:0008654phospholipid biosynthetic process; IEA:UniProtKB-KW.
# GO_processGO:0010891negative regulation of sequestering of triglyceride; IDA:UniProtKB.
# GO_processGO:0010898positive regulation of triglyceride catabolic process; IDA:UniProtKB.
# GO_processGO:0030154cell differentiation; IEA:UniProtKB-KW.
# GO_processGO:0051006positive regulation of lipoprotein lipase activity; IEA:Ensembl.
# GOslim_componentGO:0005634nucleus
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005811lipid particle
# GOslim_componentGO:0005829cytosol
# GOslim_componentGO:0043226organelle
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0016746transferase activity, transferring acyl groups
# GOslim_processGO:0006629lipid metabolic process
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0009058biosynthetic process
# GOslim_processGO:0030154cell differentiation
# GOslim_processGO:0044281small molecule metabolic process
# Gene3D3.40.50.1820-; 1.
# GenevisibleQ8WTS1HS
# HGNCHGNC:21396ABHD5
# INDUCTIONUp-regulated upon keratinocyte differentiation (at protein level). {ECO:0000269|PubMed18832586}.
# IntActQ8WTS13
# InterProIPR000073AB_hydrolase_1
# InterProIPR029058AB_hydrolase
# KEGG_Briteko01000Enzymes
# KEGG_Briteko01002 Peptidases
# KEGG_Briteko01004 Lipid biosynthesis proteins
# KEGG_DiseaseH00736[Congenital disorder; Skin and connective tissue disease; Liver disease] Chanarin-Dorfman syndrome
# MIM275630phenotype
# MIM604780gene
# OrganismABHD5_HUMANHomo sapiens (Human)
# Orphanet98907Dorfman-Chanarin disease
# PRINTSPR00111ABHYDROLASE
# PfamPF00561Abhydrolase_1
# ProteomesUP000005640Chromosome 3
# ReactomeR-HSA-163560Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis
# RecNameABHD5_HUMAN1-acylglycerol-3-phosphate O-acyltransferase ABHD5
# RefSeqNP_057090NM_016006.4
# SIMILARITYBelongs to the peptidase S33 family. ABHD4/ABHD5 subfamily. {ECO0000305}.
# SIMILARITYContains 1 AB hydrolase-1 (Alpha/Beta hydrolase fold 1) domain. {ECO0000255}.
# SUBCELLULAR LOCATIONABHD5_HUMANCytoplasm {ECO 0000269|PubMed 18832586}. Lipid droplet {ECO 0000250}. Note=Colocalized with PLIN and ADRP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA (By similarity). {ECO 0000250}.
# SUBUNITInteracts with ADRP, PLIN and PNPLA2. Interacts with PLIN5; promotes interaction with PNPLA2 (By similarity). {ECO0000250}.
# SUPFAMSSF53474SSF53474
# TISSUE SPECIFICITYABHD5_HUMANWidely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons (at protein level). {ECO 0000269|PubMed 11590543, ECO 0000269|PubMed 18832586}.
# UCSCuc003cmxhuman
# eggNOGCOG0596LUCA
# eggNOGKOG4409Eukaryota
BLASTswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:ABHD5_HUMAN
BioCycZFISH:HS00306-MONOMERhttp://biocyc.org/getid?id=ZFISH:HS00306-MONOMER
COXPRESdb51099http://coxpresdb.jp/data/gene/51099.shtml
CleanExHS_ABHD5http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_ABHD5
DOI10.1001/archderm.141.6.798http://dx.doi.org/10.1001/archderm.141.6.798
DOI10.1016/j.cmet.2006.03.005http://dx.doi.org/10.1016/j.cmet.2006.03.005
DOI10.1038/nature04728http://dx.doi.org/10.1038/nature04728
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1038/sj.jid.5700860http://dx.doi.org/10.1038/sj.jid.5700860
DOI10.1073/pnas.1210303109http://dx.doi.org/10.1073/pnas.1210303109
DOI10.1074/jbc.M801783200http://dx.doi.org/10.1074/jbc.M801783200
DOI10.1086/324121http://dx.doi.org/10.1086/324121
DOI10.1101/gr.10.5.703http://dx.doi.org/10.1101/gr.10.5.703
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.2353/ajpath.2008.080005http://dx.doi.org/10.2353/ajpath.2008.080005
EC_numberEC:2.3.1.51http://www.genome.jp/dbget-bin/www_bget?EC:2.3.1.51
EMBLAC105903http://www.ebi.ac.uk/ena/data/view/AC105903
EMBLAF151816http://www.ebi.ac.uk/ena/data/view/AF151816
EMBLAK313811http://www.ebi.ac.uk/ena/data/view/AK313811
EMBLAL606838http://www.ebi.ac.uk/ena/data/view/AL606838
EMBLBC021958http://www.ebi.ac.uk/ena/data/view/BC021958
EMBLCH471055http://www.ebi.ac.uk/ena/data/view/CH471055
ENZYME2.3.1.51http://enzyme.expasy.org/EC/2.3.1.51
EnsemblENST00000458276http://www.ensembl.org/id/ENST00000458276
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005811http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005811
GO_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GO_componentGO:0043231http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231
GO_functionGO:0003841http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003841
GO_functionGO:0042171http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042171
GO_functionGO:0052689http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0052689
GO_processGO:0006631http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006631
GO_processGO:0006654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006654
GO_processGO:0008654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008654
GO_processGO:0010891http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010891
GO_processGO:0010898http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010898
GO_processGO:0030154http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154
GO_processGO:0051006http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051006
GOslim_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005811http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005811
GOslim_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GOslim_componentGO:0043226http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0016746http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016746
GOslim_processGO:0006629http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0009058http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058
GOslim_processGO:0030154http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154
GOslim_processGO:0044281http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281
Gene3D3.40.50.1820http://www.cathdb.info/version/latest/superfamily/3.40.50.1820
GeneCardsABHD5http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=ABHD5
GeneID51099http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=51099
GeneTreeENSGT00390000016277http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000016277
HGNCHGNC:21396http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:21396
HOGENOMHOG000007445http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000007445&db=HOGENOM6
HOVERGENHBG054445http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054445&db=HOVERGEN
HPACAB020685http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB020685
HPAHPA035851http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035851
HPAHPA035852http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA035852
InParanoidQ8WTS1http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8WTS1
IntActQ8WTS1http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8WTS1*
IntEnz2.3.1.51http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.1.51
InterProIPR000073http://www.ebi.ac.uk/interpro/entry/IPR000073
InterProIPR029058http://www.ebi.ac.uk/interpro/entry/IPR029058
Jabion51099http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=51099
KEGG_Briteko01000http://www.genome.jp/dbget-bin/www_bget?ko01000
KEGG_Briteko01002http://www.genome.jp/dbget-bin/www_bget?ko01002
KEGG_Briteko01004http://www.genome.jp/dbget-bin/www_bget?ko01004
KEGG_DiseaseH00736http://www.genome.jp/dbget-bin/www_bget?H00736
KEGG_Genehsa:51099http://www.genome.jp/dbget-bin/www_bget?hsa:51099
KEGG_OrthologyKO:K13699http://www.genome.jp/dbget-bin/www_bget?KO:K13699
KEGG_Reactionrn:R09381http://www.genome.jp/dbget-bin/www_bget?rn:R09381
MIM275630http://www.ncbi.nlm.nih.gov/omim/275630
MIM604780http://www.ncbi.nlm.nih.gov/omim/604780
MINTMINT-4650384http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4650384
OMAWTLKFSHhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=WTLKFSH
Orphanet98907http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98907
OrthoDBEOG091G0AEWhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G0AEW
PRINTSPR00111http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00111
PSORT-Bswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:ABHD5_HUMAN
PSORT2swissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:ABHD5_HUMAN
PSORTswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:ABHD5_HUMAN
PfamPF00561http://pfam.xfam.org/family/PF00561
PharmGKBPA134891622http://www.pharmgkb.org/do/serve?objId=PA134891622&objCls=Gene
Phobiusswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:ABHD5_HUMAN
PhylomeDBQ8WTS1http://phylomedb.org/?seqid=Q8WTS1
ProteinModelPortalQ8WTS1http://www.proteinmodelportal.org/query/uniprot/Q8WTS1
PubMed10810093http://www.ncbi.nlm.nih.gov/pubmed/10810093
PubMed11590543http://www.ncbi.nlm.nih.gov/pubmed/11590543
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15967942http://www.ncbi.nlm.nih.gov/pubmed/15967942
PubMed16641997http://www.ncbi.nlm.nih.gov/pubmed/16641997
PubMed16679289http://www.ncbi.nlm.nih.gov/pubmed/16679289
PubMed17495960http://www.ncbi.nlm.nih.gov/pubmed/17495960
PubMed18606822http://www.ncbi.nlm.nih.gov/pubmed/18606822
PubMed18832586http://www.ncbi.nlm.nih.gov/pubmed/18832586
PubMed22814378http://www.ncbi.nlm.nih.gov/pubmed/22814378
ReactomeR-HSA-163560http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-163560
RefSeqNP_057090http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_057090
STRING9606.ENSP00000390849http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000390849&targetmode=cogs
SUPFAMSSF53474http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53474
UCSCuc003cmxhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003cmx&org=rat
UniGeneHs.19385http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.19385
UniProtKB-ACQ8WTS1http://www.uniprot.org/uniprot/Q8WTS1
UniProtKBABHD5_HUMANhttp://www.uniprot.org/uniprot/ABHD5_HUMAN
chargeswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:ABHD5_HUMAN
eggNOGCOG0596http://eggnogapi.embl.de/nog_data/html/tree/COG0596
eggNOGKOG4409http://eggnogapi.embl.de/nog_data/html/tree/KOG4409
epestfindswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:ABHD5_HUMAN
garnierswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:ABHD5_HUMAN
helixturnhelixswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:ABHD5_HUMAN
hmomentswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:ABHD5_HUMAN
iepswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:ABHD5_HUMAN
inforesidueswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:ABHD5_HUMAN
neXtProtNX_Q8WTS1http://www.nextprot.org/db/entry/NX_Q8WTS1
octanolswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:ABHD5_HUMAN
pepcoilswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:ABHD5_HUMAN
pepdigestswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:ABHD5_HUMAN
pepinfoswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:ABHD5_HUMAN
pepnetswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:ABHD5_HUMAN
pepstatsswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:ABHD5_HUMAN
pepwheelswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:ABHD5_HUMAN
pepwindowswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:ABHD5_HUMAN
sigcleaveswissprot:ABHD5_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:ABHD5_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSSNTA1_HUMANEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13424-1; Sequence=Displayed; Name=2; IsoId=Q13424-2; Sequence=VSP_056827; Note=No experimental confirmation available.;
# AltNameSNTA1_HUMAN59 kDa dystrophin-associated protein A1 acidic component 1
# AltNameSNTA1_HUMANPro-TGF-alpha cytoplasmic domain-interacting protein 1
# AltNameSNTA1_HUMANSyntrophin-1
# BioGrid11252380
# CCDSCCDS13220-. [Q13424-1]
# ChiTaRSSNTA1human
# DISEASESNTA1_HUMANLong QT syndrome 12 (LQT12) [MIM 612955] A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO 0000269|PubMed 18591664, ECO 0000269|PubMed 19684871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DOMAINSNTA1_HUMANThe PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity). {ECO 0000250}.
# DOMAINSNTA1_HUMANThe PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate. {ECO 0000250}.
# DOMAINSNTA1_HUMANThe SU domain binds calmodulin in a calcium-dependent manner. {ECO 0000250}.
# EnsemblENST00000217381ENSP00000217381; ENSG00000101400. [Q13424-1]
# FUNCTIONSNTA1_HUMANAdapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity). {ECO 0000250}.
# GO_componentGO:0005622intracellular; IDA:UniProtKB.
# GO_componentGO:0005737cytoplasm; IEA:UniProtKB-KW.
# GO_componentGO:0005856cytoskeleton; IEA:UniProtKB-SubCell.
# GO_componentGO:0016013syntrophin complex; TAS:BHF-UCL.
# GO_componentGO:0030054cell junction; IEA:UniProtKB-SubCell.
# GO_componentGO:0031594neuromuscular junction; IEA:Ensembl.
# GO_componentGO:0042383sarcolemma; IEA:UniProtKB-SubCell.
# GO_componentGO:0043234protein complex; IDA:BHF-UCL.
# GO_functionGO:0005198structural molecule activity; IEA:InterPro.
# GO_functionGO:0044325ion channel binding; IPI:BHF-UCL.
# GO_functionGO:0050998nitric-oxide synthase binding; IPI:BHF-UCL.
# GO_functionGO:0051117ATPase binding; IPI:BHF-UCL.
# GO_processGO:0002027regulation of heart rate; IMP:BHF-UCL.
# GO_processGO:0006936muscle contraction; TAS:ProtInc.
# GO_processGO:0060307regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL.
# GO_processGO:0086005ventricular cardiac muscle cell action potential; IMP:BHF-UCL.
# GO_processGO:1902083negative regulation of peptidyl-cysteine S-nitrosylation; IMP:BHF-UCL.
# GO_processGO:1902305regulation of sodium ion transmembrane transport; IMP:BHF-UCL.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005622intracellular
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005856cytoskeleton
# GOslim_componentGO:0005886plasma membrane
# GOslim_componentGO:0043234protein complex
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0005198structural molecule activity
# GOslim_functionGO:0019899enzyme binding
# GOslim_processGO:0008150biological_process
# Gene3D2.30.42.10-; 1.
# GenevisibleQ13424HS
# HGNCHGNC:11167SNTA1
# INTERACTIONSNTA1_HUMANO95477 ABCA1; NbExp=2; IntAct=EBI-717191, EBI-784112; Q63538 Mapk12 (xeno); NbExp=5; IntAct=EBI-717191, EBI-783937;
# IntActQ134246
# InterProIPR001478PDZ
# InterProIPR001849PH_domain
# InterProIPR011993PH_dom-like
# InterProIPR015482Syntrophin
# InterProIPR028552SNTA1
# KEGG_DiseaseH00720[Cardiovascular disease] Jervell and Lange-Nielsen syndrome (JLNS)
# MIM601017gene
# MIM612955phenotype
# OrganismSNTA1_HUMANHomo sapiens (Human)
# Orphanet101016Romano-Ward syndrome
# PANTHERPTHR10554:SF6PTHR10554:SF6
# PANTHERPTHR10554PTHR10554
# PIRS62894S62894
# PROSITEPS50003PH_DOMAIN; 2
# PROSITEPS50106PDZ
# PTMSNTA1_HUMANPhosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity). {ECO 0000250}.
# PfamPF00169PH
# PfamPF00595PDZ
# ProteomesUP000005640Chromosome 20
# RecNameSNTA1_HUMANAlpha-1-syntrophin
# RefSeqNP_003089NM_003098.2. [Q13424-1]
# SIMILARITYBelongs to the syntrophin family. {ECO0000305}.
# SIMILARITYContains 1 PDZ (DHR) domain. {ECO:0000255|PROSITE- ProRulePRU00143}.
# SIMILARITYContains 1 SU (syntrophin unique) domain. {ECO0000305}.
# SIMILARITYContains 2 PH domains. {ECO:0000255|PROSITE- ProRulePRU00145}.
# SMARTSM00228PDZ
# SMARTSM00233PH; 2
# SUBCELLULAR LOCATIONSNTA1_HUMANCell membrane, sarcolemma {ECO 0000250}; Peripheral membrane protein {ECO 0000250}; Cytoplasmic side {ECO 0000250}. Cell junction {ECO 0000250}. Cytoplasm, cytoskeleton {ECO 0000250}. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions. {ECO 0000250}.
# SUBUNITMonomer and homodimer. Interacts with the other members of the syntrophin family SNTB1 and SNTB2; SGCG and SGCA of the dystrophin glycoprotein complex; NOS1; GRB2; the sodium channel proteins SCN4A and SCN5A; F-actin and calmodulin (By similarity). Interacts with dystrophin protein DMD and related proteins DTNA and UTRN and with MAPK12, TGFA and GA. Interacts with MYOC; regulates muscle hypertrophy (By similarity). {ECO0000250}.
# SUPFAMSSF50156SSF50156
# SUPFAMSSF50729SSF50729
# TISSUE SPECIFICITYSNTA1_HUMANHigh expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.
# UCSCuc002wzdhuman. [Q13424-1]
# eggNOGENOG410IMRMEukaryota
# eggNOGENOG410XS4YLUCA
BLASTswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:SNTA1_HUMAN
BioCycZFISH:ENSG00000101400-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000101400-MONOMER
COXPRESdb6640http://coxpresdb.jp/data/gene/6640.shtml
CleanExHS_SNTA1http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SNTA1
DIPDIP-966Nhttp://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-966N
DOI10.1016/0014-5793(96)00214-1http://dx.doi.org/10.1016/0014-5793(96)00214-1
DOI10.1016/S0014-5793(00)02373-5http://dx.doi.org/10.1016/S0014-5793(00)02373-5
DOI10.1016/S1097-2765(00)80470-0http://dx.doi.org/10.1016/S1097-2765(00)80470-0
DOI10.1016/j.cell.2006.09.026http://dx.doi.org/10.1016/j.cell.2006.09.026
DOI10.1016/j.jprot.2013.11.014http://dx.doi.org/10.1016/j.jprot.2013.11.014
DOI10.1021/ac9004309http://dx.doi.org/10.1021/ac9004309
DOI10.1021/pr300630khttp://dx.doi.org/10.1021/pr300630k
DOI10.1038/414865ahttp://dx.doi.org/10.1038/414865a
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1073/pnas.0801294105http://dx.doi.org/10.1073/pnas.0801294105
DOI10.1073/pnas.0805139105http://dx.doi.org/10.1073/pnas.0805139105
DOI10.1074/jbc.271.5.2724http://dx.doi.org/10.1074/jbc.271.5.2724
DOI10.1074/jbc.274.18.12626http://dx.doi.org/10.1074/jbc.274.18.12626
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1126/scisignal.2000475http://dx.doi.org/10.1126/scisignal.2000475
DOI10.1161/CIRCEP.108.769224http://dx.doi.org/10.1161/CIRCEP.108.769224
EMBLAK291994http://www.ebi.ac.uk/ena/data/view/AK291994
EMBLAK301800http://www.ebi.ac.uk/ena/data/view/AK301800
EMBLAL355392http://www.ebi.ac.uk/ena/data/view/AL355392
EMBLBC026215http://www.ebi.ac.uk/ena/data/view/BC026215
EMBLCH471077http://www.ebi.ac.uk/ena/data/view/CH471077
EMBLCH471077http://www.ebi.ac.uk/ena/data/view/CH471077
EMBLS81737http://www.ebi.ac.uk/ena/data/view/S81737
EMBLU40571http://www.ebi.ac.uk/ena/data/view/U40571
EnsemblENST00000217381http://www.ensembl.org/id/ENST00000217381
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005622http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856
GO_componentGO:0016013http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016013
GO_componentGO:0030054http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054
GO_componentGO:0031594http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031594
GO_componentGO:0042383http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042383
GO_componentGO:0043234http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234
GO_functionGO:0005198http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198
GO_functionGO:0044325http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325
GO_functionGO:0050998http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050998
GO_functionGO:0051117http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051117
GO_processGO:0002027http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002027
GO_processGO:0006936http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006936
GO_processGO:0060307http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060307
GO_processGO:0086005http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086005
GO_processGO:1902083http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902083
GO_processGO:1902305http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902305
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005622http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005622
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_componentGO:0043234http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0005198http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198
GOslim_functionGO:0019899http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
Gene3D2.30.42.10http://www.cathdb.info/version/latest/superfamily/2.30.42.10
GeneCardsSNTA1http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SNTA1
GeneID6640http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6640
GeneTreeENSGT00550000074581http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074581
HGNCHGNC:11167http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11167
HOGENOMHOG000231596http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231596&db=HOGENOM6
HOVERGENHBG054204http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG054204&db=HOVERGEN
HPACAB037059http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB037059
InParanoidQ13424http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13424
IntActQ13424http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13424*
InterProIPR001478http://www.ebi.ac.uk/interpro/entry/IPR001478
InterProIPR001849http://www.ebi.ac.uk/interpro/entry/IPR001849
InterProIPR011993http://www.ebi.ac.uk/interpro/entry/IPR011993
InterProIPR015482http://www.ebi.ac.uk/interpro/entry/IPR015482
InterProIPR028552http://www.ebi.ac.uk/interpro/entry/IPR028552
Jabion6640http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6640
KEGG_DiseaseH00720http://www.genome.jp/dbget-bin/www_bget?H00720
KEGG_Genehsa:6640http://www.genome.jp/dbget-bin/www_bget?hsa:6640
MIM601017http://www.ncbi.nlm.nih.gov/omim/601017
MIM612955http://www.ncbi.nlm.nih.gov/omim/612955
MINTMINT-90249http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-90249
OMAKEMSAFFhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=KEMSAFF
Orphanet101016http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101016
OrthoDBEOG091G0O31http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0O31
PANTHERPTHR10554:SF6http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10554:SF6
PANTHERPTHR10554http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10554
PROSITEPS50003http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50003
PROSITEPS50106http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50106
PSORT-Bswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:SNTA1_HUMAN
PSORT2swissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:SNTA1_HUMAN
PSORTswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:SNTA1_HUMAN
PfamPF00169http://pfam.xfam.org/family/PF00169
PfamPF00595http://pfam.xfam.org/family/PF00595
PharmGKBPA36007http://www.pharmgkb.org/do/serve?objId=PA36007&objCls=Gene
Phobiusswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:SNTA1_HUMAN
PhylomeDBQ13424http://phylomedb.org/?seqid=Q13424
ProteinModelPortalQ13424http://www.proteinmodelportal.org/query/uniprot/Q13424
PubMed10212242http://www.ncbi.nlm.nih.gov/pubmed/10212242
PubMed10230395http://www.ncbi.nlm.nih.gov/pubmed/10230395
PubMed11163757http://www.ncbi.nlm.nih.gov/pubmed/11163757
PubMed11780052http://www.ncbi.nlm.nih.gov/pubmed/11780052
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed17081983http://www.ncbi.nlm.nih.gov/pubmed/17081983
PubMed18591664http://www.ncbi.nlm.nih.gov/pubmed/18591664
PubMed18669648http://www.ncbi.nlm.nih.gov/pubmed/18669648
PubMed19413330http://www.ncbi.nlm.nih.gov/pubmed/19413330
PubMed19684871http://www.ncbi.nlm.nih.gov/pubmed/19684871
PubMed20068231http://www.ncbi.nlm.nih.gov/pubmed/20068231
PubMed23186163http://www.ncbi.nlm.nih.gov/pubmed/23186163
PubMed24275569http://www.ncbi.nlm.nih.gov/pubmed/24275569
PubMed8576247http://www.ncbi.nlm.nih.gov/pubmed/8576247
PubMed8612778http://www.ncbi.nlm.nih.gov/pubmed/8612778
RefSeqNP_003089http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003089
SMARTSM00228http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00228
SMARTSM00233http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00233
SMRQ13424http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13424
STRING9606.ENSP00000217381http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000217381&targetmode=cogs
SUPFAMSSF50156http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50156
SUPFAMSSF50729http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50729
UCSCuc002wzdhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002wzd&org=rat
UniGeneHs.31121http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.31121
UniProtKB-ACQ13424http://www.uniprot.org/uniprot/Q13424
UniProtKBSNTA1_HUMANhttp://www.uniprot.org/uniprot/SNTA1_HUMAN
chargeswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:SNTA1_HUMAN
eggNOGENOG410IMRMhttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410IMRM
eggNOGENOG410XS4Yhttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410XS4Y
epestfindswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:SNTA1_HUMAN
garnierswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:SNTA1_HUMAN
helixturnhelixswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:SNTA1_HUMAN
hmomentswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:SNTA1_HUMAN
iepswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:SNTA1_HUMAN
inforesidueswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:SNTA1_HUMAN
neXtProtNX_Q13424http://www.nextprot.org/db/entry/NX_Q13424
octanolswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:SNTA1_HUMAN
pepcoilswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:SNTA1_HUMAN
pepdigestswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:SNTA1_HUMAN
pepinfoswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:SNTA1_HUMAN
pepnetswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:SNTA1_HUMAN
pepstatsswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:SNTA1_HUMAN
pepwheelswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:SNTA1_HUMAN
pepwindowswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:SNTA1_HUMAN
sigcleaveswissprot:SNTA1_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:SNTA1_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSGNPAT_HUMANEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15228-1; Sequence=Displayed; Name=2; IsoId=O15228-2; Sequence=VSP_056435; Note=No experimental confirmation available.;
# AltNameAcyl-CoAdihydroxyacetonephosphateacyltransferase
# AltNameGNPAT_HUMANGlycerone-phosphate O-acyltransferase
# BRENDA2.3.1.422681
# BioGrid11402132
# CATALYTIC ACTIVITYGNPAT_HUMANAcyl-CoA + glycerone phosphate = CoA + acylglycerone phosphate.
# CCDSCCDS1592-. [O15228-1]
# ChiTaRSGNPAThuman
# DISEASEGNPAT_HUMANRhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM 222765] A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity. {ECO 0000269|PubMed 11152660, ECO 0000269|PubMed 21990100, ECO 0000269|PubMed 9536089}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DOMAINGNPAT_HUMANThe HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate. {ECO 0000250}.
# EnsemblENST00000366647ENSP00000355607; ENSG00000116906. [O15228-1]
# ExpressionAtlasO15228baseline and differential
# GO_componentGO:0005739mitochondrion; IEA:Ensembl.
# GO_componentGO:0005777peroxisome; IDA:UniProtKB.
# GO_componentGO:0005778peroxisomal membrane; IDA:UniProtKB.
# GO_componentGO:0005782peroxisomal matrix; TAS:Reactome.
# GO_componentGO:0016020membrane; IDA:UniProtKB.
# GO_functionGO:0005102receptor binding; IPI:UniProtKB.
# GO_functionGO:0016287glycerone-phosphate O-acyltransferase activity; IDA:UniProtKB.
# GO_functionGO:0016290palmitoyl-CoA hydrolase activity; IDA:UniProtKB.
# GO_processGO:0006650glycerophospholipid metabolic process; IEA:UniProtKB-UniPathway.
# GO_processGO:0006654phosphatidic acid biosynthetic process; TAS:Reactome.
# GO_processGO:0007416synapse assembly; IEA:Ensembl.
# GO_processGO:0007584response to nutrient; IEA:Ensembl.
# GO_processGO:0008611ether lipid biosynthetic process; IDA:UniProtKB.
# GO_processGO:0021587cerebellum morphogenesis; IEA:Ensembl.
# GO_processGO:0030913paranodal junction assembly; IEA:Ensembl.
# GO_processGO:0042493response to drug; IEA:Ensembl.
# GO_processGO:0042594response to starvation; IEA:Ensembl.
# GO_processGO:0061024membrane organization; IEA:Ensembl.
# GO_processGO:0070542response to fatty acid; IEA:Ensembl.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005739mitochondrion
# GOslim_componentGO:0005777peroxisome
# GOslim_componentGO:0043226organelle
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0016746transferase activity, transferring acyl groups
# GOslim_processGO:0006629lipid metabolic process
# GOslim_processGO:0006950response to stress
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0009058biosynthetic process
# GOslim_processGO:0022607cellular component assembly
# GOslim_processGO:0034330cell junction organization
# GOslim_processGO:0044281small molecule metabolic process
# GOslim_processGO:0048646anatomical structure formation involved in morphogenesis
# GOslim_processGO:0061024membrane organization
# GenevisibleO15228HS
# HGNCHGNC:4416GNPAT
# IntActO152288
# InterProIPR002123Plipid/glycerol_acylTrfase
# InterProIPR022284GPAT/DHAPAT
# InterProIPR028353DHAPAT
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko01000 Enzymes
# KEGG_DiseaseH00207[Inherited metabolic disease; Musculoskeletal disease; Peroxisomal disease] Rhizomelic chondrodysplasia punctata, type III (RCDP3)
# KEGG_Pathwayko00564Glycerophospholipid metabolism
# KEGG_Pathwayko04146Peroxisome
# MIM222765phenotype
# MIM602744gene
# OrganismGNPAT_HUMANHomo sapiens (Human)
# Orphanet309796Rhizomelic chondrodysplasia punctata type 2
# PANTHERPTHR12563PTHR12563
# PATHWAYGNPAT_HUMANMembrane lipid metabolism; glycerophospholipid metabolism.
# PIRSFPIRSF000437GPAT_DHAPAT
# PIRSFPIRSF500063DHAPAT
# PfamPF01553Acyltransferase
# ProteomesUP000005640Chromosome 1
# ReactomeR-HSA-1483166Synthesis of PA
# ReactomeR-HSA-75896Plasmalogen biosynthesis
# RecNameGNPAT_HUMANDihydroxyacetone phosphate acyltransferase
# RefSeqNP_001303279NM_001316350.1. [O15228-2]
# RefSeqNP_055051NM_014236.3. [O15228-1]
# SIMILARITYBelongs to the GPAT/DAPAT family. {ECO0000305}.
# SMARTSM00563PlsC
# SUBCELLULAR LOCATIONGNPAT_HUMANPeroxisome membrane {ECO 0000250}; Peripheral membrane protein {ECO 0000250}; Matrix side {ECO 0000250}. Note=Exclusively localized to the lumenal side of the peroxisomal membrane. {ECO 0000250}.
# SUBUNITGNPAT_HUMANMay be part of a heterotrimeric complex composed of DAP- AT, ADAP-S and a modified form of DAP-AT.
# UCSCuc001huphuman. [O15228-1]
# eggNOGCOG2937LUCA
# eggNOGKOG3730Eukaryota
BLASTswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:GNPAT_HUMAN
BioCycMetaCyc:HS04068-MONOMERhttp://biocyc.org/getid?id=MetaCyc:HS04068-MONOMER
BioCycZFISH:HS04068-MONOMERhttp://biocyc.org/getid?id=ZFISH:HS04068-MONOMER
COXPRESdb8443http://coxpresdb.jp/data/gene/8443.shtml
CleanExHS_GNPAThttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GNPAT
DOI10.1002/humu.21623http://dx.doi.org/10.1002/humu.21623
DOI10.1002/pmic.201400617http://dx.doi.org/10.1002/pmic.201400617
DOI10.1006/bbrc.2001.4407http://dx.doi.org/10.1006/bbrc.2001.4407
DOI10.1016/S0014-5793(97)01495-6http://dx.doi.org/10.1016/S0014-5793(97)01495-6
DOI10.1038/nature04727http://dx.doi.org/10.1038/nature04727
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1093/hmg/10.2.127http://dx.doi.org/10.1093/hmg/10.2.127
DOI10.1093/hmg/7.5.847http://dx.doi.org/10.1093/hmg/7.5.847
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1126/science.1175371http://dx.doi.org/10.1126/science.1175371
DOI10.1186/1752-0509-5-17http://dx.doi.org/10.1186/1752-0509-5-17
EC_numberEC:2.3.1.42http://www.genome.jp/dbget-bin/www_bget?EC:2.3.1.42
EMBLAF043937http://www.ebi.ac.uk/ena/data/view/AF043937
EMBLAF218223http://www.ebi.ac.uk/ena/data/view/AF218223
EMBLAF218224http://www.ebi.ac.uk/ena/data/view/AF218224
EMBLAF218225http://www.ebi.ac.uk/ena/data/view/AF218225
EMBLAF218226http://www.ebi.ac.uk/ena/data/view/AF218226
EMBLAF218227http://www.ebi.ac.uk/ena/data/view/AF218227
EMBLAF218228http://www.ebi.ac.uk/ena/data/view/AF218228
EMBLAF218229http://www.ebi.ac.uk/ena/data/view/AF218229
EMBLAF218230http://www.ebi.ac.uk/ena/data/view/AF218230
EMBLAF218231http://www.ebi.ac.uk/ena/data/view/AF218231
EMBLAF218232http://www.ebi.ac.uk/ena/data/view/AF218232
EMBLAF218233http://www.ebi.ac.uk/ena/data/view/AF218233
EMBLAJ002190http://www.ebi.ac.uk/ena/data/view/AJ002190
EMBLAK297982http://www.ebi.ac.uk/ena/data/view/AK297982
EMBLAL117352http://www.ebi.ac.uk/ena/data/view/AL117352
EMBLAL117352http://www.ebi.ac.uk/ena/data/view/AL117352
EMBLAL137801http://www.ebi.ac.uk/ena/data/view/AL137801
EMBLAL137801http://www.ebi.ac.uk/ena/data/view/AL137801
EMBLBC000450http://www.ebi.ac.uk/ena/data/view/BC000450
ENZYME2.3.1.42http://enzyme.expasy.org/EC/2.3.1.42
EnsemblENST00000366647http://www.ensembl.org/id/ENST00000366647
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GO_componentGO:0005777http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777
GO_componentGO:0005778http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005778
GO_componentGO:0005782http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005782
GO_componentGO:0016020http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020
GO_functionGO:0005102http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005102
GO_functionGO:0016287http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016287
GO_functionGO:0016290http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016290
GO_processGO:0006650http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006650
GO_processGO:0006654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006654
GO_processGO:0007416http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007416
GO_processGO:0007584http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007584
GO_processGO:0008611http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008611
GO_processGO:0021587http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0021587
GO_processGO:0030913http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030913
GO_processGO:0042493http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493
GO_processGO:0042594http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042594
GO_processGO:0061024http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024
GO_processGO:0070542http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070542
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GOslim_componentGO:0005777http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005777
GOslim_componentGO:0043226http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0016746http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016746
GOslim_processGO:0006629http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629
GOslim_processGO:0006950http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0009058http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058
GOslim_processGO:0022607http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607
GOslim_processGO:0034330http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034330
GOslim_processGO:0044281http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281
GOslim_processGO:0048646http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048646
GOslim_processGO:0061024http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024
GeneCardsGNPAThttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GNPAT
GeneID8443http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8443
GeneTreeENSGT00520000055570http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00520000055570
HGNCHGNC:4416http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4416
HOVERGENHBG051749http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051749&db=HOVERGEN
HPAHPA060059http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA060059
HPAHPA064857http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA064857
InParanoidO15228http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O15228
IntActO15228http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O15228*
IntEnz2.3.1.42http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.3.1.42
InterProIPR002123http://www.ebi.ac.uk/interpro/entry/IPR002123
InterProIPR022284http://www.ebi.ac.uk/interpro/entry/IPR022284
InterProIPR028353http://www.ebi.ac.uk/interpro/entry/IPR028353
Jabion8443http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=8443
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko01000http://www.genome.jp/dbget-bin/www_bget?ko01000
KEGG_DiseaseH00207http://www.genome.jp/dbget-bin/www_bget?H00207
KEGG_Genehsa:8443http://www.genome.jp/dbget-bin/www_bget?hsa:8443
KEGG_OrthologyKO:K00649http://www.genome.jp/dbget-bin/www_bget?KO:K00649
KEGG_Pathwayko00564http://www.genome.jp/kegg-bin/show_pathway?ko00564
KEGG_Pathwayko04146http://www.genome.jp/kegg-bin/show_pathway?ko04146
KEGG_Reactionrn:R01013http://www.genome.jp/dbget-bin/www_bget?rn:R01013
MIM222765http://www.ncbi.nlm.nih.gov/omim/222765
MIM602744http://www.ncbi.nlm.nih.gov/omim/602744
OMAPRYIPQKhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PRYIPQK
Orphanet309796http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=309796
OrthoDBEOG091G0378http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0378
PANTHERPTHR12563http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12563
PSORT-Bswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:GNPAT_HUMAN
PSORT2swissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:GNPAT_HUMAN
PSORTswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:GNPAT_HUMAN
PfamPF01553http://pfam.xfam.org/family/PF01553
PharmGKBPA28795http://www.pharmgkb.org/do/serve?objId=PA28795&objCls=Gene
Phobiusswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:GNPAT_HUMAN
PhylomeDBO15228http://phylomedb.org/?seqid=O15228
ProteinModelPortalO15228http://www.proteinmodelportal.org/query/uniprot/O15228
PubMed11152660http://www.ncbi.nlm.nih.gov/pubmed/11152660
PubMed11237722http://www.ncbi.nlm.nih.gov/pubmed/11237722
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed16710414http://www.ncbi.nlm.nih.gov/pubmed/16710414
PubMed19608861http://www.ncbi.nlm.nih.gov/pubmed/19608861
PubMed21269460http://www.ncbi.nlm.nih.gov/pubmed/21269460
PubMed21990100http://www.ncbi.nlm.nih.gov/pubmed/21990100
PubMed25944712http://www.ncbi.nlm.nih.gov/pubmed/25944712
PubMed9459311http://www.ncbi.nlm.nih.gov/pubmed/9459311
PubMed9536089http://www.ncbi.nlm.nih.gov/pubmed/9536089
ReactomeR-HSA-1483166http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1483166
ReactomeR-HSA-75896http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-75896
RefSeqNP_001303279http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001303279
RefSeqNP_055051http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_055051
SMARTSM00563http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00563
STRING9606.ENSP00000355607http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000355607&targetmode=cogs
UCSCuc001huphttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001hup&org=rat
UniGeneHs.498028http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.498028
UniProtKB-ACO15228http://www.uniprot.org/uniprot/O15228
UniProtKBGNPAT_HUMANhttp://www.uniprot.org/uniprot/GNPAT_HUMAN
chargeswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:GNPAT_HUMAN
eggNOGCOG2937http://eggnogapi.embl.de/nog_data/html/tree/COG2937
eggNOGKOG3730http://eggnogapi.embl.de/nog_data/html/tree/KOG3730
epestfindswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:GNPAT_HUMAN
garnierswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:GNPAT_HUMAN
helixturnhelixswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:GNPAT_HUMAN
hmomentswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:GNPAT_HUMAN
iepswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:GNPAT_HUMAN
inforesidueswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:GNPAT_HUMAN
neXtProtNX_O15228http://www.nextprot.org/db/entry/NX_O15228
octanolswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:GNPAT_HUMAN
pepcoilswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:GNPAT_HUMAN
pepdigestswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:GNPAT_HUMAN
pepinfoswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:GNPAT_HUMAN
pepnetswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:GNPAT_HUMAN
pepstatsswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:GNPAT_HUMAN
pepwheelswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:GNPAT_HUMAN
pepwindowswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:GNPAT_HUMAN
sigcleaveswissprot:GNPAT_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:GNPAT_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSEvent=Alternative splicing; Named isoforms=7; Name=1; Synonyms=Bbeta, Bbeta1; IsoId=Q00005-1; Sequence=Displayed; Note=Conserved additional ATG codons are found 5' of the putative initiator codon in transcripts supporting isoform 1. They may initiate the translation of upstream short open reading frames altering the expression of that isoform as described in PubMed:1849734.; Name=2; Synonyms=Bbeta2; IsoId=Q00005-2; Sequence=VSP_037976; Note=Contains a cryptic mitochondrial transit peptide at positions 1-26. {ECO0000250}; Name=3; IsoId=Q00005-3; Sequence=VSP_037977; Name=4; IsoId=Q00005-4; Sequence=VSP_037978; Name=5; IsoId=Q00005-5; Sequence=VSP_037979; Name=6; IsoId=Q00005-6; Sequence=VSP_044923; Name=7; IsoId=Q00005-7; Sequence=VSP_045748; Note=No experimental confirmation available.;
# AltName2ABB_HUMANPP2A subunit B isoform B55-beta
# AltName2ABB_HUMANPP2A subunit B isoform PR55-beta
# AltName2ABB_HUMANPP2A subunit B isoform R2-beta
# AltName2ABB_HUMANPP2A subunit B isoform beta
# BioGrid11151347
# CCDSCCDS4283-. [Q00005-2]
# CCDSCCDS4284-. [Q00005-5]
# CCDSCCDS43380-. [Q00005-6]
# CCDSCCDS64281-. [Q00005-4]
# CCDSCCDS64282-. [Q00005-3]
# ChiTaRSPPP2R2Bhuman
# DISEASE2ABB_HUMANSpinocerebellar ataxia 12 (SCA12) [MIM 604326] Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA12 is an autosomal dominant cerebellar ataxia (ADCA). {ECO 0000269|PubMed 10581021}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DOMAIN2ABB_HUMANThe N-terminal 26 residues of isoform 2 constitute a cryptic mitochondrial matrix import signal with critical basic and hydrophobic residues, that is necessary and sufficient for targeting the PP2A holoenzyme to the outer mitochondrial membrane (OMM) and does not affect holoenzyme formation or catalytic activity. {ECO 0000250}.
# DOMAIN2ABB_HUMANThe last WD repeat of isoform 2 constitutes a mitochondrial stop-transfer domain that confers resistance to the unfolding step process required for import and therefore prevents PPP2R2B matrix translocation and signal sequence cleavage. {ECO 0000250}.
# EnsemblENST00000336640ENSP00000336591; ENSG00000156475. [Q00005-2]
# EnsemblENST00000394409ENSP00000377931; ENSG00000156475. [Q00005-1]
# EnsemblENST00000394411ENSP00000377933; ENSG00000156475. [Q00005-1]
# EnsemblENST00000394413ENSP00000377935; ENSG00000156475. [Q00005-4]
# EnsemblENST00000394414ENSP00000377936; ENSG00000156475. [Q00005-5]
# EnsemblENST00000453001ENSP00000398779; ENSG00000156475. [Q00005-6]
# EnsemblENST00000504198ENSP00000421396; ENSG00000156475. [Q00005-3]
# EnsemblENST00000508545ENSP00000431320; ENSG00000156475. [Q00005-6]
# ExpressionAtlasQ00005baseline and differential
# FUNCTION2ABB_HUMANThe B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through the mitochondrial fission and fusion balance (By similarity). {ECO 0000250}.
# GO_componentGO:0000159protein phosphatase type 2A complex; IBA:GO_Central.
# GO_componentGO:0005739mitochondrion; ISS:UniProtKB.
# GO_componentGO:0005741mitochondrial outer membrane; ISS:UniProtKB.
# GO_componentGO:0005829cytosol; IBA:GO_Central.
# GO_componentGO:0005856cytoskeleton; IEA:UniProtKB-SubCell.
# GO_functionGO:0008601protein phosphatase type 2A regulator activity; TAS:ProtInc.
# GO_processGO:0000278mitotic cell cycle; IBA:GO_Central.
# GO_processGO:0006915apoptotic process; IEA:UniProtKB-KW.
# GO_processGO:0032502developmental process; IBA:GO_Central.
# GO_processGO:0070262peptidyl-serine dephosphorylation; IBA:GO_Central.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005739mitochondrion
# GOslim_componentGO:0005829cytosol
# GOslim_componentGO:0005856cytoskeleton
# GOslim_processGO:0006464cellular protein modification process
# GOslim_processGO:0007049cell cycle
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0008219cell death
# Gene3D2.130.10.10-; 3.
# GenevisibleQ00005HS
# HGNCHGNC:9305PPP2R2B
# INTERACTION2ABB_HUMANO15530 PDPK1; NbExp=8; IntAct=EBI-1052159, EBI-717097; P30153 PPP2R1A; NbExp=6; IntAct=EBI-1052159, EBI-302388; P23443 RPS6KB1; NbExp=2; IntAct=EBI-1052159, EBI-1775921;
# IntActQ00005169
# InterProIPR000009PP2A_PR55
# InterProIPR001680WD40_repeat
# InterProIPR015943WD40/YVTN_repeat-like_dom
# InterProIPR017986WD40_repeat_dom
# InterProIPR018067PP2A_PR55_CS
# InterProIPR019775WD40_repeat_CS
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko03036 Chromosome
# KEGG_DiseaseH00063[Neurodegenerative disease] Spinocerebellar ataxia (SCA)
# KEGG_Pathwayko03015mRNA surveillance pathway
# KEGG_Pathwayko04111Cell cycle - yeast
# KEGG_Pathwayko04151PI3K-Akt signaling pathway
# KEGG_Pathwayko04390Hippo signaling pathway
# KEGG_Pathwayko04391Hippo signaling pathway - fly
# KEGG_Pathwayko04530Tight junction
# KEGG_Pathwayko04728Dopaminergic synapse
# KEGG_Pathwayko05142Chagas disease (American trypanosomiasis)
# KEGG_Pathwayko05160Hepatitis C
# MIM604325gene
# MIM604326phenotype
# Organism2ABB_HUMANHomo sapiens (Human)
# Orphanet98762Spinocerebellar ataxia type 12
# PANTHERPTHR11871PTHR11871
# PIRB38351B38351
# PIRSFPIRSF037309PP2A_PR55
# PRINTSPR00600PP2APR55
# PROSITEPS00678WD_REPEATS_1
# PROSITEPS01024PR55_1
# PROSITEPS01025PR55_2
# ProteomesUP000005640Chromosome 5
# RecName2ABB_HUMANSerine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform
# RefSeqNP_001258828NM_001271899.1. [Q00005-3]
# RefSeqNP_001258829NM_001271900.1. [Q00005-4]
# RefSeqNP_001258877NM_001271948.1. [Q00005-6]
# RefSeqNP_858060NM_181674.2. [Q00005-5]
# RefSeqNP_858061NM_181675.3. [Q00005-7]
# RefSeqNP_858062NM_181676.2. [Q00005-2]
# RefSeqNP_858063NM_181677.2
# RefSeqNP_858064NM_181678.2. [Q00005-6]
# SEQUENCE CAUTIONSequence=AAH31790.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG51642.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO0000305}; Sequence=BAG51642.1; Type=Erroneous termination; Positions=116; Note=Translated as Lys.; Evidence={ECO:0000305};
# SIMILARITYBelongs to the phosphatase 2A regulatory subunit B family. {ECO0000305}.
# SIMILARITYContains 7 WD repeats. {ECO0000305}.
# SMARTSM00320WD40; 6
# SUBCELLULAR LOCATION2ABB_HUMANIsoform 1 Cytoplasm {ECO 0000250}. Cytoplasm, cytoskeleton {ECO 0000250}. Membrane {ECO 0000250}.
# SUBCELLULAR LOCATION2ABB_HUMANIsoform 2 Cytoplasm {ECO 0000250}. Mitochondrion {ECO 0000250}. Mitochondrion outer membrane {ECO 0000250}. Note=Under basal conditions, localizes to both cytosolic and mitochondrial compartments. Relocalizes from the cytosolic to the mitochondrial compartment during apoptosis. Its targeting to the outer mitochondrial membrane (OMM) involves an association with import receptors of the TOM complex and is required to promote proapoptotic activity (By similarity). {ECO 0000250}.
# SUBUNIT2ABB_HUMANPP2A consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules.
# SUPFAMSSF50978SSF50978; 3
# TISSUE SPECIFICITY2ABB_HUMANBrain.
# UCSCuc003loehuman. [Q00005-1]
# eggNOGCOG5170LUCA
# eggNOGKOG1354Eukaryota
BLASTswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:2ABB_HUMAN
BioCycZFISH:ENSG00000156475-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000156475-MONOMER
COXPRESdb5521http://coxpresdb.jp/data/gene/5521.shtml
CleanExHS_PPP2R2Bhttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PPP2R2B
DOI10.1021/bi00229a001http://dx.doi.org/10.1021/bi00229a001
DOI10.1038/70493http://dx.doi.org/10.1038/70493
DOI10.1038/nature02919http://dx.doi.org/10.1038/nature02919
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
EMBLAC008728http://www.ebi.ac.uk/ena/data/view/AC008728
EMBLAC009186http://www.ebi.ac.uk/ena/data/view/AC009186
EMBLAC010251http://www.ebi.ac.uk/ena/data/view/AC010251
EMBLAC011357http://www.ebi.ac.uk/ena/data/view/AC011357
EMBLAC011386http://www.ebi.ac.uk/ena/data/view/AC011386
EMBLAC091919http://www.ebi.ac.uk/ena/data/view/AC091919
EMBLAC091924http://www.ebi.ac.uk/ena/data/view/AC091924
EMBLAK056192http://www.ebi.ac.uk/ena/data/view/AK056192
EMBLAK289717http://www.ebi.ac.uk/ena/data/view/AK289717
EMBLAK294659http://www.ebi.ac.uk/ena/data/view/AK294659
EMBLAK295347http://www.ebi.ac.uk/ena/data/view/AK295347
EMBLBC031790http://www.ebi.ac.uk/ena/data/view/BC031790
EMBLBI490027http://www.ebi.ac.uk/ena/data/view/BI490027
EMBLBI669304http://www.ebi.ac.uk/ena/data/view/BI669304
EMBLCH471062http://www.ebi.ac.uk/ena/data/view/CH471062
EMBLCH471062http://www.ebi.ac.uk/ena/data/view/CH471062
EMBLCH471062http://www.ebi.ac.uk/ena/data/view/CH471062
EMBLCH471062http://www.ebi.ac.uk/ena/data/view/CH471062
EMBLCH471062http://www.ebi.ac.uk/ena/data/view/CH471062
EMBLCH471062http://www.ebi.ac.uk/ena/data/view/CH471062
EMBLM64930http://www.ebi.ac.uk/ena/data/view/M64930
EnsemblENST00000336640http://www.ensembl.org/id/ENST00000336640
EnsemblENST00000394409http://www.ensembl.org/id/ENST00000394409
EnsemblENST00000394411http://www.ensembl.org/id/ENST00000394411
EnsemblENST00000394413http://www.ensembl.org/id/ENST00000394413
EnsemblENST00000394414http://www.ensembl.org/id/ENST00000394414
EnsemblENST00000453001http://www.ensembl.org/id/ENST00000453001
EnsemblENST00000504198http://www.ensembl.org/id/ENST00000504198
EnsemblENST00000508545http://www.ensembl.org/id/ENST00000508545
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0000159http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000159
GO_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GO_componentGO:0005741http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005741
GO_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GO_componentGO:0005856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856
GO_functionGO:0008601http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008601
GO_processGO:0000278http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000278
GO_processGO:0006915http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006915
GO_processGO:0032502http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032502
GO_processGO:0070262http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070262
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GOslim_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GOslim_componentGO:0005856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005856
GOslim_processGO:0006464http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464
GOslim_processGO:0007049http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007049
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0008219http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008219
Gene3D2.130.10.10http://www.cathdb.info/version/latest/superfamily/2.130.10.10
GeneCardsPPP2R2Bhttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PPP2R2B
GeneID5521http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5521
GeneTreeENSGT00390000006311http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000006311
HGNCHGNC:9305http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9305
HOVERGENHBG000012http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG000012&db=HOVERGEN
HPAHPA038118http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA038118
HPAHPA042122http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042122
HPAHPA042770http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA042770
InParanoidQ00005http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q00005
IntActQ00005http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q00005*
InterProIPR000009http://www.ebi.ac.uk/interpro/entry/IPR000009
InterProIPR001680http://www.ebi.ac.uk/interpro/entry/IPR001680
InterProIPR015943http://www.ebi.ac.uk/interpro/entry/IPR015943
InterProIPR017986http://www.ebi.ac.uk/interpro/entry/IPR017986
InterProIPR018067http://www.ebi.ac.uk/interpro/entry/IPR018067
InterProIPR019775http://www.ebi.ac.uk/interpro/entry/IPR019775
Jabion5521http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5521
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko03036http://www.genome.jp/dbget-bin/www_bget?ko03036
KEGG_DiseaseH00063http://www.genome.jp/dbget-bin/www_bget?H00063
KEGG_Genehsa:5521http://www.genome.jp/dbget-bin/www_bget?hsa:5521
KEGG_OrthologyKO:K04354http://www.genome.jp/dbget-bin/www_bget?KO:K04354
KEGG_Pathwayko03015http://www.genome.jp/kegg-bin/show_pathway?ko03015
KEGG_Pathwayko04111http://www.genome.jp/kegg-bin/show_pathway?ko04111
KEGG_Pathwayko04151http://www.genome.jp/kegg-bin/show_pathway?ko04151
KEGG_Pathwayko04390http://www.genome.jp/kegg-bin/show_pathway?ko04390
KEGG_Pathwayko04391http://www.genome.jp/kegg-bin/show_pathway?ko04391
KEGG_Pathwayko04530http://www.genome.jp/kegg-bin/show_pathway?ko04530
KEGG_Pathwayko04728http://www.genome.jp/kegg-bin/show_pathway?ko04728
KEGG_Pathwayko05142http://www.genome.jp/kegg-bin/show_pathway?ko05142
KEGG_Pathwayko05160http://www.genome.jp/kegg-bin/show_pathway?ko05160
MIM604325http://www.ncbi.nlm.nih.gov/omim/604325
MIM604326http://www.ncbi.nlm.nih.gov/omim/604326
MINTMINT-6631022http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-6631022
OMAPIPPRTFhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PIPPRTF
Orphanet98762http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98762
OrthoDBEOG091G09BBhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G09BB
PANTHERPTHR11871http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11871
PRINTSPR00600http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00600
PROSITEPS00678http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00678
PROSITEPS01024http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01024
PROSITEPS01025http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01025
PSORT-Bswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:2ABB_HUMAN
PSORT2swissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:2ABB_HUMAN
PSORTswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:2ABB_HUMAN
PharmGKBPA33669http://www.pharmgkb.org/do/serve?objId=PA33669&objCls=Gene
Phobiusswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:2ABB_HUMAN
PhylomeDBQ00005http://phylomedb.org/?seqid=Q00005
ProteinModelPortalQ00005http://www.proteinmodelportal.org/query/uniprot/Q00005
PubMed10581021http://www.ncbi.nlm.nih.gov/pubmed/10581021
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15372022http://www.ncbi.nlm.nih.gov/pubmed/15372022
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed1849734http://www.ncbi.nlm.nih.gov/pubmed/1849734
RefSeqNP_001258828http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258828
RefSeqNP_001258829http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258829
RefSeqNP_001258877http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001258877
RefSeqNP_858060http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_858060
RefSeqNP_858061http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_858061
RefSeqNP_858062http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_858062
RefSeqNP_858063http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_858063
RefSeqNP_858064http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_858064
SMARTSM00320http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00320
SMRQ00005http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q00005
STRING9606.ENSP00000336591http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000336591&targetmode=cogs
SUPFAMSSF50978http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50978
UCSCuc003loehttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003loe&org=rat
UniGeneHs.627618http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.627618
UniGeneHs.655213http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.655213
UniProtKB-ACQ00005http://www.uniprot.org/uniprot/Q00005
UniProtKB2ABB_HUMANhttp://www.uniprot.org/uniprot/2ABB_HUMAN
chargeswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:2ABB_HUMAN
eggNOGCOG5170http://eggnogapi.embl.de/nog_data/html/tree/COG5170
eggNOGKOG1354http://eggnogapi.embl.de/nog_data/html/tree/KOG1354
epestfindswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:2ABB_HUMAN
garnierswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:2ABB_HUMAN
helixturnhelixswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:2ABB_HUMAN
hmomentswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:2ABB_HUMAN
iepswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:2ABB_HUMAN
inforesidueswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:2ABB_HUMAN
neXtProtNX_Q00005http://www.nextprot.org/db/entry/NX_Q00005
octanolswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:2ABB_HUMAN
pepcoilswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:2ABB_HUMAN
pepdigestswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:2ABB_HUMAN
pepinfoswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:2ABB_HUMAN
pepnetswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:2ABB_HUMAN
pepstatsswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:2ABB_HUMAN
pepwheelswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:2ABB_HUMAN
pepwindowswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:2ABB_HUMAN
sigcleaveswissprot:2ABB_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:2ABB_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSGLRB_HUMANEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48167-1; Sequence=Displayed; Name=2; IsoId=P48167-2; Sequence=VSP_045466, VSP_045467; Note=No experimental confirmation available.;
# AltNameGLRB_HUMANGlycine receptor 58 kDa subunit
# BioGrid10900512
# CCDSCCDS3796-. [P48167-1]
# CCDSCCDS54813-. [P48167-2]
# DISEASEGLRB_HUMANHyperekplexia 2 (HKPX2) [MIM 614619] A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO 0000269|PubMed 11929858, ECO 0000269|PubMed 21391991, ECO 0000269|PubMed 23238346}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DrugBankDB00145Glycine
# DrugBankDB00228Enflurane
# DrugBankDB00431Lindane
# EnsemblENST00000264428ENSP00000264428; ENSG00000109738. [P48167-1]
# EnsemblENST00000509282ENSP00000427186; ENSG00000109738. [P48167-1]
# EnsemblENST00000541722ENSP00000441873; ENSG00000109738. [P48167-2]
# ExpressionAtlasP48167baseline and differential
# FUNCTIONGLRB_HUMANGlycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed 8717357, PubMed 15302677, PubMed 16144831, PubMed 22715885, PubMed 25445488, PubMed 11929858, PubMed 23238346). Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1 (PubMed 8717357). Plays an important role in the down-regulation of neuronal excitability (PubMed 11929858, PubMed 23238346). Contributes to the generation of inhibitory postsynaptic currents (PubMed 25445488). {ECO 0000269|PubMed 11929858, ECO 0000269|PubMed 15302677, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 23238346, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 8717357}.
# GO_componentGO:0005737cytoplasm; IEA:UniProtKB-SubCell.
# GO_componentGO:0005886plasma membrane; TAS:Reactome.
# GO_componentGO:0005887integral component of plasma membrane; IDA:UniProtKB.
# GO_componentGO:0016935glycine-gated chloride channel complex; IDA:UniProtKB.
# GO_componentGO:0030054cell junction; IEA:UniProtKB-KW.
# GO_componentGO:0030425dendrite; IEA:UniProtKB-SubCell.
# GO_componentGO:0045211postsynaptic membrane; IEA:UniProtKB-SubCell.
# GO_componentGO:0098982GABA-ergic synapse; IEA:Ensembl.
# GO_functionGO:0008144drug binding; IEA:Ensembl.
# GO_functionGO:0016594glycine binding; IEA:Ensembl.
# GO_functionGO:0016933extracellular-glycine-gated ion channel activity; IMP:UniProtKB.
# GO_functionGO:0016934extracellular-glycine-gated chloride channel activity; IEA:Ensembl.
# GO_processGO:0001964startle response; IMP:UniProtKB.
# GO_processGO:0006811ion transport; IDA:UniProtKB.
# GO_processGO:0007218neuropeptide signaling pathway; IDA:UniProtKB.
# GO_processGO:0007268chemical synaptic transmission; IMP:UniProtKB.
# GO_processGO:0007340acrosome reaction; IEA:Ensembl.
# GO_processGO:0007399nervous system development; IMP:UniProtKB.
# GO_processGO:0007601visual perception; IEA:Ensembl.
# GO_processGO:0007628adult walking behavior; IEA:Ensembl.
# GO_processGO:0034220ion transmembrane transport; TAS:Reactome.
# GO_processGO:0042391regulation of membrane potential; IEA:Ensembl.
# GO_processGO:0043200response to amino acid; IBA:GO_Central.
# GO_processGO:0051291protein heterooligomerization; IEA:Ensembl.
# GO_processGO:0060012synaptic transmission, glycinergic; IBA:GO_Central.
# GO_processGO:0060013righting reflex; IEA:Ensembl.
# GO_processGO:0097112gamma-aminobutyric acid receptor clustering; IEA:Ensembl.
# GO_processGO:1902476chloride transmembrane transport; IMP:UniProtKB.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005886plasma membrane
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0022857transmembrane transporter activity
# GOslim_functionGO:0043167ion binding
# GOslim_processGO:0006461protein complex assembly
# GOslim_processGO:0006810transport
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0007267cell-cell signaling
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0048856anatomical structure development
# GOslim_processGO:0050877neurological system process
# GOslim_processGO:0055085transmembrane transport
# GOslim_processGO:0061024membrane organization
# Gene3D2.70.170.10-; 1.
# GenevisibleP48167HS
# HGNCHGNC:4329GLRB
# InterProIPR006029Neurotrans-gated_channel_TM
# InterProIPR006201Neur_channel
# InterProIPR006202Neur_chan_lig-bd
# InterProIPR008060Glycine_rcpt_B
# InterProIPR018000Neurotransmitter_ion_chnl_CS
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko04040 Ion channels
# KEGG_DiseaseH00769[Nervous system disease] Hyperekplexia
# KEGG_Pathwayko04080Neuroactive ligand-receptor interaction
# MIM138492gene
# MIM614619phenotype
# OrganismGLRB_HUMANHomo sapiens (Human)
# Orphanet3197Hereditary hyperekplexia
# PANTHERPTHR18945:SF29PTHR18945:SF29; 2
# PANTHERPTHR18945PTHR18945; 2
# PIRG02031G02031
# PRINTSPR00252NRIONCHANNEL
# PRINTSPR01677GLYRBETA
# PROSITEPS00236NEUROTR_ION_CHANNEL
# PfamPF02931Neur_chan_LBD
# PfamPF02932Neur_chan_memb
# ProteomesUP000005640Chromosome 4
# ReactomeR-HSA-975298Ligand-gated ion channel transport
# RecNameGLRB_HUMANGlycine receptor subunit beta
# RefSeqNP_000815NM_000824.4. [P48167-1]
# RefSeqNP_001159532NM_001166060.1. [P48167-1]
# RefSeqNP_001159533NM_001166061.1. [P48167-2]
# RefSeqXP_016863524XM_017008035.1. [P48167-2]
# SIMILARITYBelongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRB sub- subfamily. {ECO0000305}.
# SUBCELLULAR LOCATIONGLRB_HUMANCell junction, synapse, postsynaptic cell membrane {ECO 0000250|UniProtKB P48168}; Multi-pass membrane protein {ECO 0000250|UniProtKB P48167}. Cell junction, synapse {ECO 0000250|UniProtKB P48168}. Cell projection, dendrite {ECO 0000250|UniProtKB P48168}. Cell membrane {ECO 0000269|PubMed 11929858, ECO 0000269|PubMed 12684523, ECO 0000269|PubMed 15302677, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 22973015, ECO 0000269|PubMed 23238346, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 8717357}; Multi-pass membrane protein {ECO 0000250|UniProtKB P23415}. Cytoplasm {ECO 0000269|PubMed 12684523}. Note=Retained in the cytoplasm upon heterologous expression by itself. Coexpression with GPHN promotes expression at the cell membrane (PubMed 12684523). Coexpression with GLRA1, GLRA2 or GLRA3 promotes expression at the cell membrane. {ECO 0000250|UniProtKB P20781, ECO 0000269|PubMed 12684523}.
# SUBUNITGLRB_HUMANHeteropentamer composed of GLRB and GLRA1 (PubMed 8717357, PubMed 14551753, PubMed 22973015, PubMed 22715885, PubMed 25445488, PubMed 11929858, PubMed 23238346). Heteropentamer composed of GLRB and GLRA2 (PubMed 15302677, PubMed 16144831, PubMed 25445488). Heteropentamer composed of GLRB and GLRA3 (PubMed 25445488). Heteropentamer composed of two GLRA1 and three GLRB subunits (PubMed 22715885). Heteropentamer composed of three GLRA1 and two GLRB subunits (PubMed 22973015). Interacts with GPHN (PubMed 12684523,PubMed 26613940). {ECO 0000269|PubMed 11929858, ECO 0000269|PubMed 12684523, ECO 0000269|PubMed 14551753, ECO 0000269|PubMed 15302677, ECO 0000269|PubMed 16144831, ECO 0000269|PubMed 22715885, ECO 0000269|PubMed 22973015, ECO 0000269|PubMed 23238346, ECO 0000269|PubMed 25445488, ECO 0000269|PubMed 26613940, ECO 0000269|PubMed 8717357}.
# SUPFAMSSF63712SSF63712
# SUPFAMSSF90112SSF90112
# TCDB1.A.9.3the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family
# TIGRFAMsTIGR00860LIC
# UCSCuc003ipjhuman. [P48167-1]
# eggNOGENOG410XP43LUCA
# eggNOGKOG3644Eukaryota
BLASTswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:GLRB_HUMAN
BioCycZFISH:ENSG00000109738-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000109738-MONOMER
COXPRESdb2743http://coxpresdb.jp/data/gene/2743.shtml
CleanExHS_GLRBhttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_GLRB
DOI10.1006/geno.1998.5324http://dx.doi.org/10.1006/geno.1998.5324
DOI10.1007/s00249-003-0286-yhttp://dx.doi.org/10.1007/s00249-003-0286-y
DOI10.1016/0169-328X(95)00215-Ehttp://dx.doi.org/10.1016/0169-328X(95)00215-E
DOI10.1016/j.nbd.2012.12.001http://dx.doi.org/10.1016/j.nbd.2012.12.001
DOI10.1016/j.neuropharm.2014.10.026http://dx.doi.org/10.1016/j.neuropharm.2014.10.026
DOI10.1016/j.ygeno.2003.09.023http://dx.doi.org/10.1016/j.ygeno.2003.09.023
DOI10.1021/bi300063mhttp://dx.doi.org/10.1021/bi300063m
DOI10.1038/nature03466http://dx.doi.org/10.1038/nature03466
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1038/sj.bjp.0705875http://dx.doi.org/10.1038/sj.bjp.0705875
DOI10.1074/jbc.M301070200http://dx.doi.org/10.1074/jbc.M301070200
DOI10.1074/jbc.M508303200http://dx.doi.org/10.1074/jbc.M508303200
DOI10.1093/hmg/11.7.853http://dx.doi.org/10.1093/hmg/11.7.853
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1111/j.1399-0004.2011.01661.xhttp://dx.doi.org/10.1111/j.1399-0004.2011.01661.x
DOI10.1523/JNEUROSCI.2050-12.2012http://dx.doi.org/10.1523/JNEUROSCI.2050-12.2012
DOI10.15252/emmm.201505323http://dx.doi.org/10.15252/emmm.201505323
DrugBankDB00145http://www.drugbank.ca/drugs/DB00145
DrugBankDB00228http://www.drugbank.ca/drugs/DB00228
DrugBankDB00431http://www.drugbank.ca/drugs/DB00431
EMBLAC079403http://www.ebi.ac.uk/ena/data/view/AC079403
EMBLAF094754http://www.ebi.ac.uk/ena/data/view/AF094754
EMBLAF094755http://www.ebi.ac.uk/ena/data/view/AF094755
EMBLAK290617http://www.ebi.ac.uk/ena/data/view/AK290617
EMBLBC032635http://www.ebi.ac.uk/ena/data/view/BC032635
EMBLCD013911http://www.ebi.ac.uk/ena/data/view/CD013911
EMBLCH471056http://www.ebi.ac.uk/ena/data/view/CH471056
EMBLCH471056http://www.ebi.ac.uk/ena/data/view/CH471056
EMBLU33267http://www.ebi.ac.uk/ena/data/view/U33267
EnsemblENST00000264428http://www.ensembl.org/id/ENST00000264428
EnsemblENST00000509282http://www.ensembl.org/id/ENST00000509282
EnsemblENST00000541722http://www.ensembl.org/id/ENST00000541722
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0005887http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887
GO_componentGO:0016935http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016935
GO_componentGO:0030054http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054
GO_componentGO:0030425http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425
GO_componentGO:0045211http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045211
GO_componentGO:0098982http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0098982
GO_functionGO:0008144http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008144
GO_functionGO:0016594http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016594
GO_functionGO:0016933http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016933
GO_functionGO:0016934http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016934
GO_processGO:0001964http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001964
GO_processGO:0006811http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006811
GO_processGO:0007218http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007218
GO_processGO:0007268http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007268
GO_processGO:0007340http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007340
GO_processGO:0007399http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007399
GO_processGO:0007601http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601
GO_processGO:0007628http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007628
GO_processGO:0034220http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034220
GO_processGO:0042391http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042391
GO_processGO:0043200http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043200
GO_processGO:0051291http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051291
GO_processGO:0060012http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060012
GO_processGO:0060013http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060013
GO_processGO:0097112http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097112
GO_processGO:1902476http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902476
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0022857http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857
GOslim_functionGO:0043167http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167
GOslim_processGO:0006461http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461
GOslim_processGO:0006810http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0007267http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007267
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0048856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856
GOslim_processGO:0050877http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877
GOslim_processGO:0055085http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055085
GOslim_processGO:0061024http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024
Gene3D2.70.170.10http://www.cathdb.info/version/latest/superfamily/2.70.170.10
GeneCardsGLRBhttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=GLRB
GeneID2743http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2743
GeneTreeENSGT00760000118821http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118821
HGNCHGNC:4329http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:4329
HOGENOMHOG000231336http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231336&db=HOGENOM6
HOVERGENHBG051707http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG051707&db=HOVERGEN
HPAHPA052363http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052363
InParanoidP48167http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P48167
IntActP48167http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P48167*
InterProIPR006029http://www.ebi.ac.uk/interpro/entry/IPR006029
InterProIPR006201http://www.ebi.ac.uk/interpro/entry/IPR006201
InterProIPR006202http://www.ebi.ac.uk/interpro/entry/IPR006202
InterProIPR008060http://www.ebi.ac.uk/interpro/entry/IPR008060
InterProIPR018000http://www.ebi.ac.uk/interpro/entry/IPR018000
Jabion2743http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=2743
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko04040http://www.genome.jp/dbget-bin/www_bget?ko04040
KEGG_DiseaseH00769http://www.genome.jp/dbget-bin/www_bget?H00769
KEGG_Genehsa:2743http://www.genome.jp/dbget-bin/www_bget?hsa:2743
KEGG_OrthologyKO:K05196http://www.genome.jp/dbget-bin/www_bget?KO:K05196
KEGG_Pathwayko04080http://www.genome.jp/kegg-bin/show_pathway?ko04080
MIM138492http://www.ncbi.nlm.nih.gov/omim/138492
MIM614619http://www.ncbi.nlm.nih.gov/omim/614619
OMAPRLKLPNhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PRLKLPN
Orphanet3197http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3197
OrthoDBEOG091G0805http://cegg.unige.ch/orthodb/results?searchtext=EOG091G0805
PANTHERPTHR18945:SF29http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945:SF29
PANTHERPTHR18945http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18945
PRINTSPR00252http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00252
PRINTSPR01677http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01677
PROSITEPS00236http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00236
PSORT-Bswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:GLRB_HUMAN
PSORT2swissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:GLRB_HUMAN
PSORTswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:GLRB_HUMAN
PfamPF02931http://pfam.xfam.org/family/PF02931
PfamPF02932http://pfam.xfam.org/family/PF02932
PharmGKBPA28730http://www.pharmgkb.org/do/serve?objId=PA28730&objCls=Gene
Phobiusswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:GLRB_HUMAN
PhylomeDBP48167http://phylomedb.org/?seqid=P48167
ProteinModelPortalP48167http://www.proteinmodelportal.org/query/uniprot/P48167
PubMed11929858http://www.ncbi.nlm.nih.gov/pubmed/11929858
PubMed12684523http://www.ncbi.nlm.nih.gov/pubmed/12684523
PubMed14551753http://www.ncbi.nlm.nih.gov/pubmed/14551753
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15028279http://www.ncbi.nlm.nih.gov/pubmed/15028279
PubMed15302677http://www.ncbi.nlm.nih.gov/pubmed/15302677
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15815621http://www.ncbi.nlm.nih.gov/pubmed/15815621
PubMed16144831http://www.ncbi.nlm.nih.gov/pubmed/16144831
PubMed21391991http://www.ncbi.nlm.nih.gov/pubmed/21391991
PubMed22715885http://www.ncbi.nlm.nih.gov/pubmed/22715885
PubMed22973015http://www.ncbi.nlm.nih.gov/pubmed/22973015
PubMed23238346http://www.ncbi.nlm.nih.gov/pubmed/23238346
PubMed25445488http://www.ncbi.nlm.nih.gov/pubmed/25445488
PubMed26613940http://www.ncbi.nlm.nih.gov/pubmed/26613940
PubMed8717357http://www.ncbi.nlm.nih.gov/pubmed/8717357
PubMed9676428http://www.ncbi.nlm.nih.gov/pubmed/9676428
ReactomeR-HSA-975298http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975298
RefSeqNP_000815http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000815
RefSeqNP_001159532http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159532
RefSeqNP_001159533http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001159533
RefSeqXP_016863524http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016863524
SMRP48167http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P48167
STRING9606.ENSP00000264428http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000264428&targetmode=cogs
SUPFAMSSF63712http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF63712
SUPFAMSSF90112http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF90112
TCDB1.A.9.3http://www.tcdb.org/search/result.php?tc=1.A.9.3
TIGRFAMsTIGR00860http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR00860
UCSCuc003ipjhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003ipj&org=rat
UniGeneHs.32973http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.32973
UniProtKB-ACP48167http://www.uniprot.org/uniprot/P48167
UniProtKBGLRB_HUMANhttp://www.uniprot.org/uniprot/GLRB_HUMAN
chargeswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:GLRB_HUMAN
eggNOGENOG410XP43http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XP43
eggNOGKOG3644http://eggnogapi.embl.de/nog_data/html/tree/KOG3644
epestfindswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:GLRB_HUMAN
garnierswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:GLRB_HUMAN
helixturnhelixswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:GLRB_HUMAN
hmomentswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:GLRB_HUMAN
iepswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:GLRB_HUMAN
inforesidueswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:GLRB_HUMAN
neXtProtNX_P48167http://www.nextprot.org/db/entry/NX_P48167
octanolswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:GLRB_HUMAN
pepcoilswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:GLRB_HUMAN
pepdigestswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:GLRB_HUMAN
pepinfoswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:GLRB_HUMAN
pepnetswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:GLRB_HUMAN
pepstatsswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:GLRB_HUMAN
pepwheelswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:GLRB_HUMAN
pepwindowswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:GLRB_HUMAN
sigcleaveswissprot:GLRB_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:GLRB_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSTULP1_HUMANEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00294-1; Sequence=Displayed; Name=2; IsoId=O00294-2; Sequence=VSP_023031;
# AltNameTULP1_HUMANTubby-like protein 1
# CCDSCCDS4807-. [O00294-1]
# CCDSCCDS75436-. [O00294-2]
# DISEASETULP1_HUMANLeber 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.
# DISEASETULP1_HUMANRetinitis 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.
# EnsemblENST00000229771ENSP00000229771; ENSG00000112041. [O00294-1]
# EnsemblENST00000322263ENSP00000319414; ENSG00000112041. [O00294-2]
# ExpressionAtlasO00294baseline and differential
# FUNCTIONTULP1_HUMANRequired 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_componentGO:0001750photoreceptor outer segment; ISS:UniProtKB.
# GO_componentGO:0001917photoreceptor inner segment; ISS:UniProtKB.
# GO_componentGO:0005576extracellular region; IEA:UniProtKB-SubCell.
# GO_componentGO:0005829cytosol; IEA:Ensembl.
# GO_componentGO:0005886plasma membrane; IDA:UniProtKB.
# GO_componentGO:0005929cilium; IBA:GO_Central.
# GO_componentGO:0030054cell junction; IEA:UniProtKB-KW.
# GO_componentGO:0042995cell projection; IDA:UniProtKB.
# GO_componentGO:0043679axon terminus; IEA:Ensembl.
# GO_componentGO:0045202synapse; ISS:UniProtKB.
# GO_functionGO:0005546phosphatidylinositol-4,5-bisphosphate binding; IDA:UniProtKB.
# GO_functionGO:0051015actin filament binding; IDA:UniProtKB.
# GO_processGO:0001895retina homeostasis; IMP:UniProtKB.
# GO_processGO:0006910phagocytosis, recognition; IEA:Ensembl.
# GO_processGO:0007601visual perception; TAS:ProtInc.
# GO_processGO:0016358dendrite development; ISS:UniProtKB.
# GO_processGO:0042462eye photoreceptor cell development; ISS:UniProtKB.
# GO_processGO:0045494photoreceptor cell maintenance; ISS:UniProtKB.
# GO_processGO:0050766positive regulation of phagocytosis; IDA:UniProtKB.
# GO_processGO:0050908detection of light stimulus involved in visual perception; IMP:UniProtKB.
# GO_processGO:0060041retina development in camera-type eye; IEA:Ensembl.
# GO_processGO:0097500receptor localization to non-motile cilium; IBA:GO_Central.
# GO_processGO:1903546protein localization to photoreceptor outer segment; IBA:GO_Central.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005576extracellular region
# GOslim_componentGO:0005829cytosol
# GOslim_componentGO:0005886plasma membrane
# GOslim_componentGO:0005929cilium
# GOslim_functionGO:0008092cytoskeletal protein binding
# GOslim_functionGO:0008289lipid binding
# GOslim_functionGO:0043167ion binding
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0042592homeostatic process
# GOslim_processGO:0048856anatomical structure development
# GOslim_processGO:0050877neurological system process
# GOslim_processGO:0061024membrane organization
# Gene3D3.20.90.10-; 1.
# GenevisibleO00294HS
# HGNCHGNC:12423TULP1
# INTERACTIONTULP1_HUMANP16333 NCK1; NbExp=2; IntAct=EBI-1756778, EBI-389883;
# IntActO002945
# InterProIPR000007Tubby_C
# InterProIPR018066Tubby_C_CS
# InterProIPR025659Tubby_C-like
# InterProIPR033018TULP1
# KEGG_DiseaseH00527[Inherited metabolic disease; Nervous system disease; Eye disease] Retinitis pigmentosa (RP)
# KEGG_DiseaseH00837[Nervous system disease; Eye disease] Leber congenital amaurosis (LCR)
# MIM600132phenotype
# MIM602280gene
# MIM613843phenotype
# OrganismTULP1_HUMANHomo sapiens (Human)
# Orphanet65Leber congenital amaurosis
# Orphanet791Retinitis pigmentosa
# PANTHERPTHR16517:SF12PTHR16517:SF12
# PDB2FIMX-ray; 1.90 A; A/B=290-542
# PDB3C5NX-ray; 1.80 A; A/B=291-536
# PRINTSPR01573SUPERTUBBY
# PROSITEPS01200TUB_1
# PROSITEPS01201TUB_2
# PfamPF01167Tub
# ProteomesUP000005640Chromosome 6
# RecNameTULP1_HUMANTubby-related protein 1
# RefSeqNP_001276324NM_001289395.1. [O00294-2]
# RefSeqNP_003313NM_003322.4. [O00294-1]
# SEQUENCE CAUTIONSequence=CAI20251.1; Type=Erroneous gene model prediction; Evidence={ECO0000305};
# SIMILARITYBelongs to the TUB family. {ECO0000305}.
# SUBCELLULAR LOCATIONTULP1_HUMANCytoplasm {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}.
# SUBUNITHomodimer (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, ECO0000305}.
# SUPFAMSSF54518SSF54518
# TISSUE SPECIFICITYTULP1_HUMANRetina-specific.
# UCSCuc003okvhuman. [O00294-1]
# WEB RESOURCETULP1_HUMANName=Mutations of the TULP1 gene; Note=Retina International's Scientific Newsletter; URL="http //www.retina-international.org/files/sci-news/tulpmut.htm";
# eggNOGENOG410XQFTLUCA
# eggNOGKOG2502Eukaryota
BLASTswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:TULP1_HUMAN
BioCycZFISH:ENSG00000112041-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000112041-MONOMER
COXPRESdb7287http://coxpresdb.jp/data/gene/7287.shtml
CleanExHS_TULP1http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TULP1
DOI10.1001/archopht.125.7.932http://dx.doi.org/10.1001/archopht.125.7.932
DOI10.1002/humu.20010http://dx.doi.org/10.1002/humu.20010
DOI10.1016/S0140-6736(05)79384-3http://dx.doi.org/10.1016/S0140-6736(05)79384-3
DOI10.1016/j.yexcr.2009.10.008http://dx.doi.org/10.1016/j.yexcr.2009.10.008
DOI10.1038/nature02055http://dx.doi.org/10.1038/nature02055
DOI10.1038/ng0298-174http://dx.doi.org/10.1038/ng0298-174
DOI10.1038/ng0298-177http://dx.doi.org/10.1038/ng0298-177
DOI10.1073/pnas.94.7.3128http://dx.doi.org/10.1073/pnas.94.7.3128
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1167/iovs.04-0544http://dx.doi.org/10.1167/iovs.04-0544
DOI10.1167/iovs.05-0693http://dx.doi.org/10.1167/iovs.05-0693
DOI10.1167/iovs.06-1013http://dx.doi.org/10.1167/iovs.06-1013
EMBLAF034919http://www.ebi.ac.uk/ena/data/view/AF034919
EMBLAF034920http://www.ebi.ac.uk/ena/data/view/AF034920
EMBLAF034921http://www.ebi.ac.uk/ena/data/view/AF034921
EMBLAF034922http://www.ebi.ac.uk/ena/data/view/AF034922
EMBLAF034923http://www.ebi.ac.uk/ena/data/view/AF034923
EMBLAL033519http://www.ebi.ac.uk/ena/data/view/AL033519
EMBLBC032714http://www.ebi.ac.uk/ena/data/view/BC032714
EMBLBC065261http://www.ebi.ac.uk/ena/data/view/BC065261
EMBLU82468http://www.ebi.ac.uk/ena/data/view/U82468
EnsemblENST00000229771http://www.ensembl.org/id/ENST00000229771
EnsemblENST00000322263http://www.ensembl.org/id/ENST00000322263
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0001750http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001750
GO_componentGO:0001917http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001917
GO_componentGO:0005576http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576
GO_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0005929http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929
GO_componentGO:0030054http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054
GO_componentGO:0042995http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042995
GO_componentGO:0043679http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043679
GO_componentGO:0045202http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202
GO_functionGO:0005546http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005546
GO_functionGO:0051015http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051015
GO_processGO:0001895http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001895
GO_processGO:0006910http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006910
GO_processGO:0007601http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007601
GO_processGO:0016358http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016358
GO_processGO:0042462http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042462
GO_processGO:0045494http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045494
GO_processGO:0050766http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050766
GO_processGO:0050908http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050908
GO_processGO:0060041http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060041
GO_processGO:0097500http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097500
GO_processGO:1903546http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903546
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005576http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576
GOslim_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_componentGO:0005929http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005929
GOslim_functionGO:0008092http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008092
GOslim_functionGO:0008289http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008289
GOslim_functionGO:0043167http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0042592http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592
GOslim_processGO:0048856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856
GOslim_processGO:0050877http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050877
GOslim_processGO:0061024http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024
Gene3D3.20.90.10http://www.cathdb.info/version/latest/superfamily/3.20.90.10
GeneCardsTULP1http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TULP1
GeneID7287http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7287
GeneTreeENSGT00610000085970http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00610000085970
H-InvDBHIX0005807http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0005807
HGNCHGNC:12423http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12423
HOGENOMHOG000016044http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000016044&db=HOGENOM6
HOVERGENHBG018010http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG018010&db=HOVERGEN
HPACAB070416http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB070416
InParanoidO00294http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00294
IntActO00294http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00294*
InterProIPR000007http://www.ebi.ac.uk/interpro/entry/IPR000007
InterProIPR018066http://www.ebi.ac.uk/interpro/entry/IPR018066
InterProIPR025659http://www.ebi.ac.uk/interpro/entry/IPR025659
InterProIPR033018http://www.ebi.ac.uk/interpro/entry/IPR033018
Jabion7287http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7287
KEGG_DiseaseH00527http://www.genome.jp/dbget-bin/www_bget?H00527
KEGG_DiseaseH00837http://www.genome.jp/dbget-bin/www_bget?H00837
KEGG_Genehsa:7287http://www.genome.jp/dbget-bin/www_bget?hsa:7287
MIM600132http://www.ncbi.nlm.nih.gov/omim/600132
MIM602280http://www.ncbi.nlm.nih.gov/omim/602280
MIM613843http://www.ncbi.nlm.nih.gov/omim/613843
OMAEAPESPChttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EAPESPC
Orphanet65http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=65
Orphanet791http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=791
OrthoDBEOG091G04TFhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G04TF
PANTHERPTHR16517:SF12http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16517:SF12
PDB2FIMhttp://www.ebi.ac.uk/pdbe-srv/view/entry/2FIM
PDB3C5Nhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3C5N
PDBsum2FIMhttp://www.ebi.ac.uk/pdbsum/2FIM
PDBsum3C5Nhttp://www.ebi.ac.uk/pdbsum/3C5N
PRINTSPR01573http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01573
PROSITEPS01200http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01200
PROSITEPS01201http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01201
PSORT-Bswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:TULP1_HUMAN
PSORT2swissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:TULP1_HUMAN
PSORTswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:TULP1_HUMAN
PfamPF01167http://pfam.xfam.org/family/PF01167
PharmGKBPA37085http://www.pharmgkb.org/do/serve?objId=PA37085&objCls=Gene
Phobiusswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:TULP1_HUMAN
PhylomeDBO00294http://phylomedb.org/?seqid=O00294
ProteinModelPortalO00294http://www.proteinmodelportal.org/query/uniprot/O00294
PubMed14574404http://www.ncbi.nlm.nih.gov/pubmed/14574404
PubMed15024725http://www.ncbi.nlm.nih.gov/pubmed/15024725
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15557452http://www.ncbi.nlm.nih.gov/pubmed/15557452
PubMed16303976http://www.ncbi.nlm.nih.gov/pubmed/16303976
PubMed17620573http://www.ncbi.nlm.nih.gov/pubmed/17620573
PubMed17962469http://www.ncbi.nlm.nih.gov/pubmed/17962469
PubMed19837063http://www.ncbi.nlm.nih.gov/pubmed/19837063
PubMed9096357http://www.ncbi.nlm.nih.gov/pubmed/9096357
PubMed9462750http://www.ncbi.nlm.nih.gov/pubmed/9462750
PubMed9462751http://www.ncbi.nlm.nih.gov/pubmed/9462751
PubMed9660588http://www.ncbi.nlm.nih.gov/pubmed/9660588
RefSeqNP_001276324http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001276324
RefSeqNP_003313http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003313
SMRO00294http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00294
STRING9606.ENSP00000229771http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000229771&targetmode=cogs
SUPFAMSSF54518http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54518
UCSCuc003okvhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003okv&org=rat
UniGeneHs.485208http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.485208
UniProtKB-ACO00294http://www.uniprot.org/uniprot/O00294
UniProtKBTULP1_HUMANhttp://www.uniprot.org/uniprot/TULP1_HUMAN
chargeswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:TULP1_HUMAN
eggNOGENOG410XQFThttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410XQFT
eggNOGKOG2502http://eggnogapi.embl.de/nog_data/html/tree/KOG2502
epestfindswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:TULP1_HUMAN
garnierswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:TULP1_HUMAN
helixturnhelixswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:TULP1_HUMAN
hmomentswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:TULP1_HUMAN
iepswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:TULP1_HUMAN
inforesidueswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:TULP1_HUMAN
neXtProtNX_O00294http://www.nextprot.org/db/entry/NX_O00294
octanolswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:TULP1_HUMAN
pepcoilswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:TULP1_HUMAN
pepdigestswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:TULP1_HUMAN
pepinfoswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:TULP1_HUMAN
pepnetswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:TULP1_HUMAN
pepstatsswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:TULP1_HUMAN
pepwheelswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:TULP1_HUMAN
pepwindowswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:TULP1_HUMAN
sigcleaveswissprot:TULP1_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:TULP1_HUMAN
DataBaseIDURL or Descriptions
# AltNameL-tyrosine2-oxoglutarate aminotransferase
# BioGrid1127614
# CATALYTIC ACTIVITYATTY_HUMANL-tyrosine + 2-oxoglutarate = 4- hydroxyphenylpyruvate + L-glutamate. {ECO 0000269|PubMed 16640556, ECO 0000269|PubMed 7999802}.
# COFACTORName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI597326;
# ChiTaRSTAThuman
# DISEASEATTY_HUMANTyrosinemia 2 (TYRSN2) [MIM 276600] An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and mental retardation. {ECO 0000269|PubMed 1357662}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DrugBankDB00120L-Phenylalanine
# DrugBankDB00135L-Tyrosine
# EnsemblENST00000355962ENSP00000348234; ENSG00000198650
# ExpressionAtlasP17735baseline and differential
# FUNCTIONATTY_HUMANTransaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine. {ECO 0000269|PubMed 16640556, ECO 0000269|PubMed 7999802}.
# GO_componentGO:0005739mitochondrion; IEA:Ensembl.
# GO_componentGO:0005829cytosol; TAS:Reactome.
# GO_functionATTY_HUMANGO 0004838 L-tyrosine 2-oxoglutarate aminotransferase activity; IDA UniProtKB.
# GO_functionATTY_HUMANGO 0080130 L-phenylalanine 2-oxoglutarate aminotransferase activity; IEA UniProtKB-EC.
# GO_functionGO:0016597amino acid binding; IEA:Ensembl.
# GO_functionGO:0030170pyridoxal phosphate binding; IEA:InterPro.
# GO_processGO:00061032-oxoglutarate metabolic process; IDA:UniProtKB.
# GO_processGO:0006536glutamate metabolic process; IDA:UniProtKB.
# GO_processGO:0006559L-phenylalanine catabolic process; TAS:Reactome.
# GO_processGO:0006572tyrosine catabolic process; IDA:UniProtKB.
# GO_processGO:0006979response to oxidative stress; IEA:Ensembl.
# GO_processGO:0009058biosynthetic process; IEA:InterPro.
# GO_processGO:0046689response to mercury ion; IEA:Ensembl.
# GO_processGO:0051384response to glucocorticoid; IEA:Ensembl.
# GOslim_componentGO:0005739mitochondrion
# GOslim_componentGO:0005829cytosol
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0043167ion binding
# GOslim_processGO:0006520cellular amino acid metabolic process
# GOslim_processGO:0006950response to stress
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0009056catabolic process
# GOslim_processGO:0009058biosynthetic process
# GOslim_processGO:0044281small molecule metabolic process
# Gene3D3.40.640.10-; 1.
# Gene3D3.90.1150.10-; 1.
# GenevisibleP17735HS
# HGNCHGNC:11573TAT
# InterProIPR004838NHTrfase_class1_PyrdxlP-BS
# InterProIPR004839Aminotransferase_I/II
# InterProIPR005957Tyrosine_aminoTrfase
# InterProIPR005958TyrNic_aminoTrfase
# InterProIPR011715Tyr_aminoTrfase_ubiquitination
# InterProIPR015421PyrdxlP-dep_Trfase_major_sub1
# InterProIPR015422PyrdxlP-dep_Trfase_major_sub2
# InterProIPR015424PyrdxlP-dep_Trfase
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko00002 KEGG pathway modules
# KEGG_Briteko01000 Enzymes
# KEGG_Briteko01007 Amino acid related enzymes
# KEGG_DiseaseH00165[Inherited metabolic disease; Nervous system disease] Hawkinsinuria
# KEGG_Pathwayko00130Ubiquinone and other terpenoid-quinone biosynthesis
# KEGG_Pathwayko00270Cysteine and methionine metabolism
# KEGG_Pathwayko00350Tyrosine metabolism
# KEGG_Pathwayko00360Phenylalanine metabolism
# KEGG_Pathwayko00400Phenylalanine, tyrosine and tryptophan biosynthesis
# KEGG_Pathwayko00401Novobiocin biosynthesis
# KEGG_Pathwayko00950Isoquinoline alkaloid biosynthesis
# KEGG_Pathwayko00960Tropane, piperidine and pyridine alkaloid biosynthesis
# MIM276600phenotype
# MIM613018gene
# OrganismATTY_HUMANHomo sapiens (Human)
# Orphanet28378Tyrosinemia type 2
# PATHWAYAmino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine step 2/6.
# PDB3DYDX-ray; 2.30 A; A/B=41-444
# PIRS10887S10887
# PIRSFPIRSF000517Tyr_transaminase
# PROSITEPS00105AA_TRANSFER_CLASS_1
# PfamPF00155Aminotran_1_2
# PfamPF07706TAT_ubiq
# ProteomesUP000005640Chromosome 16
# ReactomeR-HSA-71182Phenylalanine and tyrosine catabolism
# RecNameATTY_HUMANTyrosine aminotransferase
# RefSeqNP_000344NM_000353.2
# SIMILARITYBelongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. {ECO0000305}.
# SUBUNITHomodimer. {ECO0000305|Ref.8}.
# SUPFAMSSF53383SSF53383
# TIGRFAMsTIGR01264tyr_amTase_E
# TIGRFAMsTIGR01265tyr_nico_aTase
# UCSCuc002faphuman
# UniPathwayUPA00139UER00338
# eggNOGCOG0436LUCA
# eggNOGKOG0259Eukaryota
BLASTswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:ATTY_HUMAN
BioCycMetaCyc:HS06761-MONOMERhttp://biocyc.org/getid?id=MetaCyc:HS06761-MONOMER
BioCycZFISH:HS06761-MONOMERhttp://biocyc.org/getid?id=ZFISH:HS06761-MONOMER
COGCOG0079http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=COG0079
COXPRESdb6898http://coxpresdb.jp/data/gene/6898.shtml
CleanExHS_TAThttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TAT
DOI10.1016/j.jprot.2013.11.014http://dx.doi.org/10.1016/j.jprot.2013.11.014
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1073/pnas.89.19.9297http://dx.doi.org/10.1073/pnas.89.19.9297
DOI10.1093/nar/18.13.3853http://dx.doi.org/10.1093/nar/18.13.3853
DOI10.1111/j.1742-4658.2006.05202.xhttp://dx.doi.org/10.1111/j.1742-4658.2006.05202.x
DrugBankDB00120http://www.drugbank.ca/drugs/DB00120
DrugBankDB00135http://www.drugbank.ca/drugs/DB00135
EC_numberEC:2.6.1.5http://www.genome.jp/dbget-bin/www_bget?EC:2.6.1.5
EMBLAK313380http://www.ebi.ac.uk/ena/data/view/AK313380
EMBLCH471166http://www.ebi.ac.uk/ena/data/view/CH471166
EMBLCH471166http://www.ebi.ac.uk/ena/data/view/CH471166
EMBLX52509http://www.ebi.ac.uk/ena/data/view/X52509
EMBLX52510http://www.ebi.ac.uk/ena/data/view/X52510
EMBLX52511http://www.ebi.ac.uk/ena/data/view/X52511
EMBLX52512http://www.ebi.ac.uk/ena/data/view/X52512
EMBLX52513http://www.ebi.ac.uk/ena/data/view/X52513
EMBLX52514http://www.ebi.ac.uk/ena/data/view/X52514
EMBLX52515http://www.ebi.ac.uk/ena/data/view/X52515
EMBLX52516http://www.ebi.ac.uk/ena/data/view/X52516
EMBLX52517http://www.ebi.ac.uk/ena/data/view/X52517
EMBLX52518http://www.ebi.ac.uk/ena/data/view/X52518
EMBLX52519http://www.ebi.ac.uk/ena/data/view/X52519
EMBLX52520http://www.ebi.ac.uk/ena/data/view/X52520
EMBLX55675http://www.ebi.ac.uk/ena/data/view/X55675
ENZYME2.6.1.5http://enzyme.expasy.org/EC/2.6.1.5
EnsemblENST00000355962http://www.ensembl.org/id/ENST00000355962
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GO_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GO_functionGO:0004838http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004838
GO_functionGO:0016597http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016597
GO_functionGO:0030170http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030170
GO_functionGO:0080130http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0080130
GO_processGO:0006103http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006103
GO_processGO:0006536http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006536
GO_processGO:0006559http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006559
GO_processGO:0006572http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006572
GO_processGO:0006979http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006979
GO_processGO:0009058http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058
GO_processGO:0046689http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046689
GO_processGO:0051384http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051384
GOslim_componentGO:0005739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005739
GOslim_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0043167http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167
GOslim_processGO:0006520http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006520
GOslim_processGO:0006950http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0009056http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056
GOslim_processGO:0009058http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058
GOslim_processGO:0044281http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281
Gene3D3.40.640.10http://www.cathdb.info/version/latest/superfamily/3.40.640.10
Gene3D3.90.1150.10http://www.cathdb.info/version/latest/superfamily/3.90.1150.10
GeneCardsTAThttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TAT
GeneID6898http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6898
GeneTreeENSGT00650000093238http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00650000093238
HGNCHGNC:11573http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11573
HOGENOMHOG000239005http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000239005&db=HOGENOM6
HOVERGENHBG004318http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG004318&db=HOVERGEN
InParanoidP17735http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P17735
IntActP17735http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P17735*
IntEnz2.6.1.5http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.6.1.5
InterProIPR004838http://www.ebi.ac.uk/interpro/entry/IPR004838
InterProIPR004839http://www.ebi.ac.uk/interpro/entry/IPR004839
InterProIPR005957http://www.ebi.ac.uk/interpro/entry/IPR005957
InterProIPR005958http://www.ebi.ac.uk/interpro/entry/IPR005958
InterProIPR011715http://www.ebi.ac.uk/interpro/entry/IPR011715
InterProIPR015421http://www.ebi.ac.uk/interpro/entry/IPR015421
InterProIPR015422http://www.ebi.ac.uk/interpro/entry/IPR015422
InterProIPR015424http://www.ebi.ac.uk/interpro/entry/IPR015424
Jabion6898http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=6898
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko00002http://www.genome.jp/dbget-bin/www_bget?ko00002
KEGG_Briteko01000http://www.genome.jp/dbget-bin/www_bget?ko01000
KEGG_Briteko01007http://www.genome.jp/dbget-bin/www_bget?ko01007
KEGG_DiseaseH00165http://www.genome.jp/dbget-bin/www_bget?H00165
KEGG_Genehsa:6898http://www.genome.jp/dbget-bin/www_bget?hsa:6898
KEGG_OrthologyKO:K00815http://www.genome.jp/dbget-bin/www_bget?KO:K00815
KEGG_Pathwayko00130http://www.genome.jp/kegg-bin/show_pathway?ko00130
KEGG_Pathwayko00270http://www.genome.jp/kegg-bin/show_pathway?ko00270
KEGG_Pathwayko00350http://www.genome.jp/kegg-bin/show_pathway?ko00350
KEGG_Pathwayko00360http://www.genome.jp/kegg-bin/show_pathway?ko00360
KEGG_Pathwayko00400http://www.genome.jp/kegg-bin/show_pathway?ko00400
KEGG_Pathwayko00401http://www.genome.jp/kegg-bin/show_pathway?ko00401
KEGG_Pathwayko00950http://www.genome.jp/kegg-bin/show_pathway?ko00950
KEGG_Pathwayko00960http://www.genome.jp/kegg-bin/show_pathway?ko00960
KEGG_Reactionrn:R00694http://www.genome.jp/dbget-bin/www_bget?rn:R00694
KEGG_Reactionrn:R00734http://www.genome.jp/dbget-bin/www_bget?rn:R00734
KEGG_Reactionrn:R07396http://www.genome.jp/dbget-bin/www_bget?rn:R07396
MIM276600http://www.ncbi.nlm.nih.gov/omim/276600
MIM613018http://www.ncbi.nlm.nih.gov/omim/613018
OMAAEFCDRHhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AEFCDRH
Orphanet28378http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=28378
OrthoDBEOG091G06R8http://cegg.unige.ch/orthodb/results?searchtext=EOG091G06R8
PDB3DYDhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3DYD
PDBsum3DYDhttp://www.ebi.ac.uk/pdbsum/3DYD
PROSITEPS00105http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00105
PSORT-Bswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:ATTY_HUMAN
PSORT2swissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:ATTY_HUMAN
PSORTswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:ATTY_HUMAN
PfamPF00155http://pfam.xfam.org/family/PF00155
PfamPF07706http://pfam.xfam.org/family/PF07706
PharmGKBPA36338http://www.pharmgkb.org/do/serve?objId=PA36338&objCls=Gene
Phobiusswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:ATTY_HUMAN
PhylomeDBP17735http://phylomedb.org/?seqid=P17735
ProteinModelPortalP17735http://www.proteinmodelportal.org/query/uniprot/P17735
PubMed1357662http://www.ncbi.nlm.nih.gov/pubmed/1357662
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed16640556http://www.ncbi.nlm.nih.gov/pubmed/16640556
PubMed1973834http://www.ncbi.nlm.nih.gov/pubmed/1973834
PubMed24275569http://www.ncbi.nlm.nih.gov/pubmed/24275569
PubMed7908801http://www.ncbi.nlm.nih.gov/pubmed/7908801
PubMed7999802http://www.ncbi.nlm.nih.gov/pubmed/7999802
ReactomeR-HSA-71182http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-71182
RefSeqNP_000344http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000344
SMRP17735http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P17735
STRING9606.ENSP00000348234http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000348234&targetmode=cogs
STRINGCOG0079http://string-db.org/newstring_cgi/show_network_section.pl?identifier=COG0079&targetmode=cogs
SUPFAMSSF53383http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF53383
TIGRFAMsTIGR01264http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01264
TIGRFAMsTIGR01265http://cmr.jcvi.org/tigr-scripts/CMR/HmmReport.cgi?hmm_acc=TIGR01265
UCSCuc002faphttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fap&org=rat
UniGeneHs.161640http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.161640
UniProtKB-ACP17735http://www.uniprot.org/uniprot/P17735
UniProtKBATTY_HUMANhttp://www.uniprot.org/uniprot/ATTY_HUMAN
chargeswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:ATTY_HUMAN
eggNOGCOG0436http://eggnogapi.embl.de/nog_data/html/tree/COG0436
eggNOGKOG0259http://eggnogapi.embl.de/nog_data/html/tree/KOG0259
epestfindswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:ATTY_HUMAN
garnierswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:ATTY_HUMAN
helixturnhelixswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:ATTY_HUMAN
hmomentswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:ATTY_HUMAN
iepswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:ATTY_HUMAN
inforesidueswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:ATTY_HUMAN
neXtProtNX_P17735http://www.nextprot.org/db/entry/NX_P17735
octanolswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:ATTY_HUMAN
pepcoilswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:ATTY_HUMAN
pepdigestswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:ATTY_HUMAN
pepinfoswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:ATTY_HUMAN
pepnetswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:ATTY_HUMAN
pepstatsswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:ATTY_HUMAN
pepwheelswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:ATTY_HUMAN
pepwindowswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:ATTY_HUMAN
sigcleaveswissprot:ATTY_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:ATTY_HUMAN
DataBaseIDURL or Descriptions
# AltNamePKR2_HUMANG-protein coupled receptor 73-like 1
# AltNamePKR2_HUMANG-protein coupled receptor I5E
# AltNamePKR2_HUMANGPR73b
# AltNamePKR2_HUMANGPRg2
# DISEASEPKR2_HUMANHypogonadotropic 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}.
# EnsemblENST00000217270ENSP00000217270; ENSG00000101292
# FUNCTIONPKR2_HUMANReceptor 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_componentGO:0005886plasma membrane; IDA:UniProtKB.
# GO_componentGO:0005887integral component of plasma membrane; IBA:GO_Central.
# GO_functionGO:0004930G-protein coupled receptor activity; IBA:GO_Central.
# GO_functionGO:0004983neuropeptide Y receptor activity; IEA:InterPro.
# GO_processGO:0007166cell surface receptor signaling pathway; IBA:GO_Central.
# GO_processGO:0007186G-protein coupled receptor signaling pathway; IBA:GO_Central.
# GO_processGO:0007623circadian rhythm; IBA:GO_Central.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005886plasma membrane
# GOslim_functionGO:0004871signal transducer activity
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0008150biological_process
# GenevisibleQ8NFJ6HS
# HGNCHGNC:15836PROKR2
# InterProIPR000276GPCR_Rhodpsn
# InterProIPR000611NPY_rcpt
# InterProIPR017452GPCR_Rhodpsn_7TM
# KEGG_Briteko04030G protein-coupled receptors
# KEGG_DiseaseH00255[Endocrine disease] Fertile eunuch syndrome (FEUNS)
# MIM244200phenotype
# MIM607123gene
# OrganismPKR2_HUMANHomo sapiens (Human)
# Orphanet3157Septo-optic dysplasia
# Orphanet432Normosmic congenital hypogonadotropic hypogonadism
# Orphanet478Kallmann syndrome
# PRINTSPR00237GPCRRHODOPSN
# PRINTSPR01012NRPEPTIDEYR
# PROSITEPS00237G_PROTEIN_RECEP_F1_1
# PROSITEPS50262G_PROTEIN_RECEP_F1_2
# PfamPF000017tm_1
# ProteomesUP000005640Chromosome 20
# ReactomeR-HSA-375276Peptide ligand-binding receptors
# ReactomeR-HSA-416476G alpha (q) signalling events
# RecNamePKR2_HUMANProkineticin receptor 2
# RefSeqNP_658986NM_144773.3
# RefSeqXP_016883135XM_017027646.1
# SIMILARITYBelongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRulePRU00521}.
# SUBCELLULAR LOCATIONPKR2_HUMANCell membrane {ECO 0000269|PubMed 18826963}; Multi-pass membrane protein.
# SUBUNITHomodimer. {ECO:0000269|PubMed21161321}.
# TISSUE SPECIFICITYPKR2_HUMANExpressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain.
# UCSCuc010zqwhuman
# eggNOGENOG410XRW9LUCA
# eggNOGKOG3656Eukaryota
BLASTswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:PKR2_HUMAN
BioCycZFISH:ENSG00000101292-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000101292-MONOMER
COXPRESdb128674http://coxpresdb.jp/data/gene/128674.shtml
CleanExHS_PROKR2http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PROKR2
DOI10.1007/s00018-010-0601-6http://dx.doi.org/10.1007/s00018-010-0601-6
DOI10.1016/S0167-4781(02)00546-8http://dx.doi.org/10.1016/S0167-4781(02)00546-8
DOI10.1016/j.ajhg.2013.04.008http://dx.doi.org/10.1016/j.ajhg.2013.04.008
DOI10.1038/414865ahttp://dx.doi.org/10.1038/414865a
DOI10.1074/jbc.M202139200http://dx.doi.org/10.1074/jbc.M202139200
DOI10.1093/hmg/ddn318http://dx.doi.org/10.1093/hmg/ddn318
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1210/jc.2007-2654http://dx.doi.org/10.1210/jc.2007-2654
DOI10.1210/jc.2014-2110http://dx.doi.org/10.1210/jc.2014-2110
DOI10.1371/journal.pgen.0020175http://dx.doi.org/10.1371/journal.pgen.0020175
DOI10.1371/journal.pgen.1002896http://dx.doi.org/10.1371/journal.pgen.1002896
EMBLAB084081http://www.ebi.ac.uk/ena/data/view/AB084081
EMBLAF506288http://www.ebi.ac.uk/ena/data/view/AF506288
EMBLAL121755http://www.ebi.ac.uk/ena/data/view/AL121755
EMBLBC104959http://www.ebi.ac.uk/ena/data/view/BC104959
EMBLBC104961http://www.ebi.ac.uk/ena/data/view/BC104961
EMBLEF577398http://www.ebi.ac.uk/ena/data/view/EF577398
EnsemblENST00000217270http://www.ensembl.org/id/ENST00000217270
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0005887http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887
GO_functionGO:0004930http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004930
GO_functionGO:0004983http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004983
GO_processGO:0007166http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166
GO_processGO:0007186http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007186
GO_processGO:0007623http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007623
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_functionGO:0004871http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GeneCardsPROKR2http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PROKR2
GeneID128674http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=128674
GeneTreeENSGT00820000127076http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00820000127076
HGNCHGNC:15836http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:15836
HOGENOMHOG000231664http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000231664&db=HOGENOM6
HOVERGENHBG039631http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG039631&db=HOVERGEN
HPAHPA047281http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA047281
InParanoidQ8NFJ6http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8NFJ6
InterProIPR000276http://www.ebi.ac.uk/interpro/entry/IPR000276
InterProIPR000611http://www.ebi.ac.uk/interpro/entry/IPR000611
InterProIPR017452http://www.ebi.ac.uk/interpro/entry/IPR017452
Jabion128674http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=128674
KEGG_Briteko04030http://www.genome.jp/dbget-bin/www_bget?ko04030
KEGG_DiseaseH00255http://www.genome.jp/dbget-bin/www_bget?H00255
KEGG_Genehsa:128674http://www.genome.jp/dbget-bin/www_bget?hsa:128674
KEGG_OrthologyKO:K08380http://www.genome.jp/dbget-bin/www_bget?KO:K08380
MIM244200http://www.ncbi.nlm.nih.gov/omim/244200
MIM607123http://www.ncbi.nlm.nih.gov/omim/607123
OMADYDLPMDhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=DYDLPMD
Orphanet3157http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3157
Orphanet432http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=432
Orphanet478http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=478
OrthoDBEOG091G086Yhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G086Y
PRINTSPR00237http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR00237
PRINTSPR01012http://umber.sbs.man.ac.uk/cgi-bin/dbbrowser/sprint/searchprintss.cgi?display_opts=Prints&category=None&queryform=false&prints_accn=PR01012
PROSITEPS00237http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00237
PROSITEPS50262http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50262
PSORT-Bswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:PKR2_HUMAN
PSORT2swissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:PKR2_HUMAN
PSORTswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:PKR2_HUMAN
PfamPF00001http://pfam.xfam.org/family/PF00001
PharmGKBPA30014http://www.pharmgkb.org/do/serve?objId=PA30014&objCls=Gene
Phobiusswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:PKR2_HUMAN
PhylomeDBQ8NFJ6http://phylomedb.org/?seqid=Q8NFJ6
ProteinModelPortalQ8NFJ6http://www.proteinmodelportal.org/query/uniprot/Q8NFJ6
PubMed11780052http://www.ncbi.nlm.nih.gov/pubmed/11780052
PubMed11886876http://www.ncbi.nlm.nih.gov/pubmed/11886876
PubMed12427552http://www.ncbi.nlm.nih.gov/pubmed/12427552
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed17054399http://www.ncbi.nlm.nih.gov/pubmed/17054399
PubMed18559922http://www.ncbi.nlm.nih.gov/pubmed/18559922
PubMed18826963http://www.ncbi.nlm.nih.gov/pubmed/18826963
PubMed21161321http://www.ncbi.nlm.nih.gov/pubmed/21161321
PubMed22927827http://www.ncbi.nlm.nih.gov/pubmed/22927827
PubMed23643382http://www.ncbi.nlm.nih.gov/pubmed/23643382
PubMed25077900http://www.ncbi.nlm.nih.gov/pubmed/25077900
ReactomeR-HSA-375276http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-375276
ReactomeR-HSA-416476http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-416476
RefSeqNP_658986http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_658986
RefSeqXP_016883135http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016883135
STRING9606.ENSP00000217270http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000217270&targetmode=cogs
UCSCuc010zqwhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc010zqw&org=rat
UniGeneHs.375029http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.375029
UniProtKB-ACQ8NFJ6http://www.uniprot.org/uniprot/Q8NFJ6
UniProtKBPKR2_HUMANhttp://www.uniprot.org/uniprot/PKR2_HUMAN
chargeswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:PKR2_HUMAN
eggNOGENOG410XRW9http://eggnogapi.embl.de/nog_data/html/tree/ENOG410XRW9
eggNOGKOG3656http://eggnogapi.embl.de/nog_data/html/tree/KOG3656
epestfindswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:PKR2_HUMAN
garnierswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:PKR2_HUMAN
helixturnhelixswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:PKR2_HUMAN
hmomentswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:PKR2_HUMAN
iepswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:PKR2_HUMAN
inforesidueswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:PKR2_HUMAN
neXtProtNX_Q8NFJ6http://www.nextprot.org/db/entry/NX_Q8NFJ6
octanolswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:PKR2_HUMAN
pepcoilswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:PKR2_HUMAN
pepdigestswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:PKR2_HUMAN
pepinfoswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:PKR2_HUMAN
pepnetswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:PKR2_HUMAN
pepstatsswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:PKR2_HUMAN
pepwheelswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:PKR2_HUMAN
pepwindowswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:PKR2_HUMAN
sigcleaveswissprot:PKR2_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:PKR2_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSPKP1_HUMANEvent=Alternative splicing; Named isoforms=2; Name=2; Synonyms=1b; IsoId=Q13835-1; Sequence=Displayed; Name=1; Synonyms=1a; IsoId=Q13835-2; Sequence=VSP_006735;
# AltNamePKP1_HUMANBand 6 protein
# BioGrid11133433
# CCDSCCDS30966-. [Q13835-1]
# CCDSCCDS30967-. [Q13835-2]
# ChiTaRSPKP1human
# DISEASEPKP1_HUMANEctodermal dysplasia-skin fragility syndrome (EDSFS) [MIM 604536] A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. Note=The disease is caused by mutations affecting the gene represented in this entry.
# EnsemblENST00000263946ENSP00000263946; ENSG00000081277. [Q13835-1]
# EnsemblENST00000352845ENSP00000295597; ENSG00000081277. [Q13835-1]
# EnsemblENST00000367324ENSP00000356293; ENSG00000081277. [Q13835-2]
# ExpressionAtlasQ13835baseline and differential
# FUNCTIONPKP1_HUMANSeems to play a role in junctional plaques. Contributes to epidermal morphogenesis. {ECO 0000269|PubMed 9326952}.
# GO_componentGO:0005634nucleus; NAS:UniProtKB.
# GO_componentGO:0005654nucleoplasm; IDA:HPA.
# GO_componentGO:0005882intermediate filament; TAS:ProtInc.
# GO_componentGO:0005886plasma membrane; IDA:HPA.
# GO_componentGO:0030057desmosome; NAS:UniProtKB.
# GO_componentGO:0043231intracellular membrane-bounded organelle; IDA:HPA.
# GO_componentGO:0070062extracellular exosome; IDA:UniProtKB.
# GO_functionGO:0004871signal transducer activity; TAS:ProtInc.
# GO_functionGO:0005521lamin binding; IDA:BHF-UCL.
# GO_functionGO:0019215intermediate filament binding; NAS:UniProtKB.
# GO_functionGO:0030280structural constituent of epidermis; NAS:UniProtKB.
# GO_processGO:0007155cell adhesion; NAS:UniProtKB.
# GO_processGO:0007165signal transduction; NAS:UniProtKB.
# GO_processGO:0007275multicellular organism development; IEA:UniProtKB-KW.
# GO_processGO:0016337single organismal cell-cell adhesion; IEA:InterPro.
# GO_processGO:0045110intermediate filament bundle assembly; IDA:BHF-UCL.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005634nucleus
# GOslim_componentGO:0005654nucleoplasm
# GOslim_componentGO:0005886plasma membrane
# GOslim_componentGO:0043226organelle
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0004871signal transducer activity
# GOslim_functionGO:0005198structural molecule activity
# GOslim_processGO:0007010cytoskeleton organization
# GOslim_processGO:0007155cell adhesion
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0022607cellular component assembly
# GOslim_processGO:0048856anatomical structure development
# Gene3D1.25.10.10-; 2.
# GenevisibleQ13835HS
# HGNCHGNC:9023PKP1
# INTERACTIONPKP1_HUMANP15924 DSP; NbExp=2; IntAct=EBI-9087684, EBI-355041; P02533 KRT14; NbExp=2; IntAct=EBI-9087684, EBI-702178; P05783 KRT18; NbExp=4; IntAct=EBI-9087684, EBI-297888; P13647 KRT5; NbExp=2; IntAct=EBI-9087684, EBI-702187; P05787 KRT8; NbExp=3; IntAct=EBI-9087684, EBI-297852; Q63HR2 TNS2; NbExp=3; IntAct=EBI-2513407, EBI-949753; P08670 VIM; NbExp=3; IntAct=EBI-9087684, EBI-353844;
# IntActQ1383520
# InterProIPR000225Armadillo
# InterProIPR011989ARM-like
# InterProIPR016024ARM-type_fold
# InterProIPR028432Plakophilin-1
# InterProIPR028435Plakophilin/d_Catenin
# KEGG_Briteko04812Cytoskeleton proteins
# KEGG_DiseaseH00644[Developmental disorder; Skin and connective tissue disease] Ectodermal dysplasia/skin fragility syndrome
# MIM601975gene
# MIM604536phenotype
# OrganismPKP1_HUMANHomo sapiens (Human)
# Orphanet158668Epidermolysis bullosa simplex due to plakophilin deficiency
# PANTHERPTHR10372:SF3PTHR10372:SF3; 2
# PANTHERPTHR10372PTHR10372; 2
# PDB1XM9X-ray; 2.80 A; A=244-721
# PIRS60712S60712
# PROSITEPS50176ARM_REPEAT; 3
# PfamPF00514Arm
# ProteomesUP000005640Chromosome 1
# ReactomeR-HSA-351906Apoptotic cleavage of cell adhesion proteins
# ReactomeR-HSA-6798695Neutrophil degranulation
# ReactomeR-HSA-6805567Keratinization
# ReactomeR-HSA-6809371Formation of the cornified envelope
# RecNamePKP1_HUMANPlakophilin-1
# RefSeqNP_000290NM_000299.3. [Q13835-1]
# RefSeqNP_001005337NM_001005337.2. [Q13835-2]
# SIMILARITYBelongs to the beta-catenin family. {ECO0000305}.
# SIMILARITYContains 9 ARM repeats. {ECO:0000255|PROSITE- ProRulePRU00259}.
# SMARTSM00185ARM; 6
# SUBCELLULAR LOCATIONPKP1_HUMANIsoform 1 Nucleus. Cell junction, desmosome.
# SUBCELLULAR LOCATIONPKP1_HUMANNucleus.
# SUPFAMSSF48371SSF48371
# TISSUE SPECIFICITYPKP1_HUMANIsoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex, glandular duct and bladder epithelia.
# UCSCuc001gwdhuman. [Q13835-1]
# eggNOGENOG410Y21QLUCA
# eggNOGKOG1048Eukaryota
BLASTswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:PKP1_HUMAN
BioCycZFISH:ENSG00000081277-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000081277-MONOMER
COXPRESdb5317http://coxpresdb.jp/data/gene/5317.shtml
CleanExHS_PKP1http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PKP1
DOI10.1007/s004410050956http://dx.doi.org/10.1007/s004410050956
DOI10.1016/j.jmb.2004.11.048http://dx.doi.org/10.1016/j.jmb.2004.11.048
DOI10.1038/ng1097-240http://dx.doi.org/10.1038/ng1097-240
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
EMBLBC114571http://www.ebi.ac.uk/ena/data/view/BC114571
EMBLCH471067http://www.ebi.ac.uk/ena/data/view/CH471067
EMBLX79293http://www.ebi.ac.uk/ena/data/view/X79293
EMBLZ34974http://www.ebi.ac.uk/ena/data/view/Z34974
EMBLZ73677http://www.ebi.ac.uk/ena/data/view/Z73677
EMBLZ73678http://www.ebi.ac.uk/ena/data/view/Z73678
EnsemblENST00000263946http://www.ensembl.org/id/ENST00000263946
EnsemblENST00000352845http://www.ensembl.org/id/ENST00000352845
EnsemblENST00000367324http://www.ensembl.org/id/ENST00000367324
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GO_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GO_componentGO:0005882http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005882
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0030057http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030057
GO_componentGO:0043231http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043231
GO_componentGO:0070062http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062
GO_functionGO:0004871http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871
GO_functionGO:0005521http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005521
GO_functionGO:0019215http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019215
GO_functionGO:0030280http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030280
GO_processGO:0007155http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155
GO_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GO_processGO:0007275http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007275
GO_processGO:0016337http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016337
GO_processGO:0045110http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045110
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GOslim_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_componentGO:0043226http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0004871http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871
GOslim_functionGO:0005198http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198
GOslim_processGO:0007010http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007010
GOslim_processGO:0007155http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0022607http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022607
GOslim_processGO:0048856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856
Gene3D1.25.10.10http://www.cathdb.info/version/latest/superfamily/1.25.10.10
GeneCardsPKP1http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PKP1
GeneID5317http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5317
GeneTreeENSGT00760000119167http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000119167
HGNCHGNC:9023http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:9023
HOGENOMHOG000060193http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000060193&db=HOGENOM6
HOVERGENHBG096389http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG096389&db=HOVERGEN
HPAHPA027221http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA027221
HPAHPA027589http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA027589
InParanoidQ13835http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q13835
IntActQ13835http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q13835*
InterProIPR000225http://www.ebi.ac.uk/interpro/entry/IPR000225
InterProIPR011989http://www.ebi.ac.uk/interpro/entry/IPR011989
InterProIPR016024http://www.ebi.ac.uk/interpro/entry/IPR016024
InterProIPR028432http://www.ebi.ac.uk/interpro/entry/IPR028432
InterProIPR028435http://www.ebi.ac.uk/interpro/entry/IPR028435
Jabion5317http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5317
KEGG_Briteko04812http://www.genome.jp/dbget-bin/www_bget?ko04812
KEGG_DiseaseH00644http://www.genome.jp/dbget-bin/www_bget?H00644
KEGG_Genehsa:5317http://www.genome.jp/dbget-bin/www_bget?hsa:5317
KEGG_OrthologyKO:K10387http://www.genome.jp/dbget-bin/www_bget?KO:K10387
MIM601975http://www.ncbi.nlm.nih.gov/omim/601975
MIM604536http://www.ncbi.nlm.nih.gov/omim/604536
OMAAYECFQDhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=AYECFQD
Orphanet158668http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=158668
OrthoDBEOG091G02GJhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G02GJ
PANTHERPTHR10372:SF3http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10372:SF3
PANTHERPTHR10372http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10372
PDB1XM9http://www.ebi.ac.uk/pdbe-srv/view/entry/1XM9
PDBsum1XM9http://www.ebi.ac.uk/pdbsum/1XM9
PROSITEPS50176http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50176
PSORT-Bswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:PKP1_HUMAN
PSORT2swissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:PKP1_HUMAN
PSORTswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:PKP1_HUMAN
PfamPF00514http://pfam.xfam.org/family/PF00514
PharmGKBPA33356http://www.pharmgkb.org/do/serve?objId=PA33356&objCls=Gene
Phobiusswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:PKP1_HUMAN
PhylomeDBQ13835http://phylomedb.org/?seqid=Q13835
ProteinModelPortalQ13835http://www.proteinmodelportal.org/query/uniprot/Q13835
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15663951http://www.ncbi.nlm.nih.gov/pubmed/15663951
PubMed7527055http://www.ncbi.nlm.nih.gov/pubmed/7527055
PubMed9326952http://www.ncbi.nlm.nih.gov/pubmed/9326952
PubMed9369526http://www.ncbi.nlm.nih.gov/pubmed/9369526
ReactomeR-HSA-351906http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-351906
ReactomeR-HSA-6798695http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6798695
ReactomeR-HSA-6805567http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6805567
ReactomeR-HSA-6809371http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-6809371
RefSeqNP_000290http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000290
RefSeqNP_001005337http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001005337
SMARTSM00185http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00185
SMRQ13835http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q13835
STRING9606.ENSP00000263946http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000263946&targetmode=cogs
SUPFAMSSF48371http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48371
UCSCuc001gwdhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001gwd&org=rat
UniGeneHs.497350http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.497350
UniProtKB-ACQ13835http://www.uniprot.org/uniprot/Q13835
UniProtKBPKP1_HUMANhttp://www.uniprot.org/uniprot/PKP1_HUMAN
chargeswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:PKP1_HUMAN
eggNOGENOG410Y21Qhttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y21Q
eggNOGKOG1048http://eggnogapi.embl.de/nog_data/html/tree/KOG1048
epestfindswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:PKP1_HUMAN
garnierswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:PKP1_HUMAN
helixturnhelixswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:PKP1_HUMAN
hmomentswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:PKP1_HUMAN
iepswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:PKP1_HUMAN
inforesidueswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:PKP1_HUMAN
neXtProtNX_Q13835http://www.nextprot.org/db/entry/NX_Q13835
octanolswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:PKP1_HUMAN
pepcoilswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:PKP1_HUMAN
pepdigestswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:PKP1_HUMAN
pepinfoswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:PKP1_HUMAN
pepnetswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:PKP1_HUMAN
pepstatsswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:PKP1_HUMAN
pepwheelswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:PKP1_HUMAN
pepwindowswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:PKP1_HUMAN
sigcleaveswissprot:PKP1_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:PKP1_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSS22AC_HUMANEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96S37-1; Sequence=Displayed; Name=2; IsoId=Q96S37-2; Sequence=VSP_028879; Name=3; IsoId=Q96S37-3; Sequence=VSP_054054; Name=4; IsoId=Q96S37-4; Sequence=VSP_054055;
# AltNameS22AC_HUMANOrganic anion transporter 4-like protein
# AltNameS22AC_HUMANRenal-specific transporter
# AltNameS22AC_HUMANUrate anion exchanger 1
# BioGrid1254714
# CCDSCCDS60835-. [Q96S37-4]
# CCDSCCDS60836-. [Q96S37-2]
# CCDSCCDS8075-. [Q96S37-1]
# CDDcd06174MFS
# DISEASES22AC_HUMANHypouricemia renal 1 (RHUC1) [MIM 220150] A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. {ECO 0000269|PubMed 12024214, ECO 0000269|PubMed 14694169, ECO 0000269|PubMed 15327384, ECO 0000269|PubMed 15634722, ECO 0000269|PubMed 15912381, ECO 0000269|PubMed 16837472, ECO 0000269|PubMed 26418379}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DrugBankDB00678Losartan
# DrugBankDB01032Probenecid
# EnsemblENST00000336464ENSP00000336836; ENSG00000197891. [Q96S37-4]
# EnsemblENST00000377567ENSP00000366790; ENSG00000197891. [Q96S37-2]
# EnsemblENST00000377572ENSP00000366795; ENSG00000197891. [Q96S37-2]
# EnsemblENST00000377574ENSP00000366797; ENSG00000197891. [Q96S37-1]
# EnsemblENST00000473690ENSP00000438437; ENSG00000197891. [Q96S37-3]
# FUNCTIONS22AC_HUMANRequired for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions. {ECO 0000269|PubMed 12024214}.
# GO_componentGO:0005886plasma membrane; IDA:UniProtKB.
# GO_componentGO:0005887integral component of plasma membrane; IBA:GO_Central.
# GO_componentGO:0016021integral component of membrane; IDA:UniProtKB.
# GO_componentGO:0016324apical plasma membrane; IDA:UniProtKB.
# GO_componentGO:0031526brush border membrane; ISS:UniProtKB.
# GO_componentGO:0070062extracellular exosome; IDA:UniProtKB.
# GO_functionGO:0005452inorganic anion exchanger activity; IBA:GO_Central.
# GO_functionGO:0015143urate transmembrane transporter activity; IDA:UniProtKB.
# GO_functionGO:0015347sodium-independent organic anion transmembrane transporter activity; IBA:GO_Central.
# GO_functionGO:0030165PDZ domain binding; IPI:UniProtKB.
# GO_processGO:0015747urate transport; IDA:UniProtKB.
# GO_processGO:0019725cellular homeostasis; NAS:UniProtKB.
# GO_processGO:0042493response to drug; IDA:UniProtKB.
# GO_processGO:0043252sodium-independent organic anion transport; IBA:GO_Central.
# GO_processGO:0046415urate metabolic process; IMP:BHF-UCL.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005886plasma membrane
# GOslim_componentGO:0043226organelle
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0022857transmembrane transporter activity
# GOslim_processGO:0006810transport
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0034641cellular nitrogen compound metabolic process
# GOslim_processGO:0042592homeostatic process
# GOslim_processGO:0044281small molecule metabolic process
# GenevisibleQ96S37HS
# HGNCHGNC:17989SLC22A12
# InterProIPR005828MFS_sugar_transport-like
# InterProIPR020846MFS_dom
# KEGG_Briteko02000Transporters
# KEGG_Briteko02001 Solute carrier family
# KEGG_DiseaseH00948[Urinary system disease] Renal hypouricemia (RHUC)
# MIM220150phenotype
# MIM607096gene
# OrganismS22AC_HUMANHomo sapiens (Human)
# Orphanet94088Hereditary renal hypouricemia
# PROSITEPS50850MFS
# PfamPF00083Sugar_tr
# ProteomesUP000005640Chromosome 11
# ReactomeR-HSA-561048Organic anion transport
# RecNameS22AC_HUMANSolute carrier family 22 member 12
# RefSeqNP_001263255NM_001276326.1. [Q96S37-4]
# RefSeqNP_001263256NM_001276327.1. [Q96S37-2]
# RefSeqNP_653186NM_144585.3. [Q96S37-1]
# RefSeqNP_700357NM_153378.2. [Q96S37-3]
# SEQUENCE CAUTIONSequence=BAB68364.1; Type=Frameshift; Positions=84, 136; Evidence={ECO0000305};
# SIMILARITYBelongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO0000305}.
# SUBCELLULAR LOCATIONS22AC_HUMANCell membrane {ECO 0000269|PubMed 12024214}; Multi-pass membrane protein {ECO 0000269|PubMed 12024214}. Note=Detected in the luminal membrane of the epithelium of renal proximal tubules.
# SUBUNITS22AC_HUMANInteracts with PDZK1. {ECO 0000269|PubMed 14531806, ECO 0000269|PubMed 15304510}.
# SUPFAMSSF103473SSF103473
# TCDB2.A.1.19.11the major facilitator superfamily (mfs)
# TISSUE SPECIFICITYS22AC_HUMANDetected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex. {ECO 0000269|PubMed 12024214, ECO 0000269|PubMed 15304510}.
# UCSCuc001oalhuman. [Q96S37-1]
# eggNOGCOG0477LUCA
# eggNOGKOG0255Eukaryota
BLASTswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:S22AC_HUMAN
BioCycZFISH:ENSG00000171239-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000171239-MONOMER
COXPRESdb116085http://coxpresdb.jp/data/gene/116085.shtml
CleanExHS_SLC22A12http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SLC22A12
DOI10.1002/art.21499http://dx.doi.org/10.1002/art.21499
DOI10.1007/s00467-005-1863-3http://dx.doi.org/10.1007/s00467-005-1863-3
DOI10.1038/nature04632http://dx.doi.org/10.1038/nature04632
DOI10.1038/nature742http://dx.doi.org/10.1038/nature742
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1046/j.1523-1755.2003.00266.xhttp://dx.doi.org/10.1046/j.1523-1755.2003.00266.x
DOI10.1074/jbc.M406724200http://dx.doi.org/10.1074/jbc.M406724200
DOI10.1093/rheumatology/kel205http://dx.doi.org/10.1093/rheumatology/kel205
DOI10.1097/01.ASN.0000105320.04395.D0http://dx.doi.org/10.1097/01.ASN.0000105320.04395.D0
DOI10.1097/MAJ.0000000000000550http://dx.doi.org/10.1097/MAJ.0000000000000550
DOI10.1101/gr.1293003http://dx.doi.org/10.1101/gr.1293003
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1111/j.1523-1755.2004.00839.xhttp://dx.doi.org/10.1111/j.1523-1755.2004.00839.x
DOI10.1210/jc.2004-1111http://dx.doi.org/10.1210/jc.2004-1111
DrugBankDB00678http://www.drugbank.ca/drugs/DB00678
DrugBankDB01032http://www.drugbank.ca/drugs/DB01032
EMBLAB050269http://www.ebi.ac.uk/ena/data/view/AB050269
EMBLAB071863http://www.ebi.ac.uk/ena/data/view/AB071863
EMBLAC044790http://www.ebi.ac.uk/ena/data/view/AC044790
EMBLAK315061http://www.ebi.ac.uk/ena/data/view/AK315061
EMBLAP001092http://www.ebi.ac.uk/ena/data/view/AP001092
EMBLAY358183http://www.ebi.ac.uk/ena/data/view/AY358183
EMBLBC053348http://www.ebi.ac.uk/ena/data/view/BC053348
EMBLCH471076http://www.ebi.ac.uk/ena/data/view/CH471076
EMBLCH471076http://www.ebi.ac.uk/ena/data/view/CH471076
EMBLDQ514593http://www.ebi.ac.uk/ena/data/view/DQ514593
EMBLDQ514594http://www.ebi.ac.uk/ena/data/view/DQ514594
EMBLDQ514595http://www.ebi.ac.uk/ena/data/view/DQ514595
EMBLDQ514596http://www.ebi.ac.uk/ena/data/view/DQ514596
EnsemblENST00000336464http://www.ensembl.org/id/ENST00000336464
EnsemblENST00000377567http://www.ensembl.org/id/ENST00000377567
EnsemblENST00000377572http://www.ensembl.org/id/ENST00000377572
EnsemblENST00000377574http://www.ensembl.org/id/ENST00000377574
EnsemblENST00000473690http://www.ensembl.org/id/ENST00000473690
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0005887http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887
GO_componentGO:0016021http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021
GO_componentGO:0016324http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016324
GO_componentGO:0031526http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031526
GO_componentGO:0070062http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062
GO_functionGO:0005452http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005452
GO_functionGO:0015143http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015143
GO_functionGO:0015347http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015347
GO_functionGO:0030165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030165
GO_processGO:0015747http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015747
GO_processGO:0019725http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019725
GO_processGO:0042493http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042493
GO_processGO:0043252http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043252
GO_processGO:0046415http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046415
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_componentGO:0043226http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0022857http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0022857
GOslim_processGO:0006810http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0034641http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034641
GOslim_processGO:0042592http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592
GOslim_processGO:0044281http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281
GeneCardsSLC22A12http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SLC22A12
GeneID116085http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=116085
GeneTreeENSGT00760000118852http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00760000118852
HGNCHGNC:17989http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:17989
HOVERGENHBG108433http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG108433&db=HOVERGEN
HPAHPA024575http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA024575
InParanoidQ96S37http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q96S37
IntActQ96S37http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q96S37*
InterProIPR005828http://www.ebi.ac.uk/interpro/entry/IPR005828
InterProIPR020846http://www.ebi.ac.uk/interpro/entry/IPR020846
Jabion116085http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=116085
KEGG_Briteko02000http://www.genome.jp/dbget-bin/www_bget?ko02000
KEGG_Briteko02001http://www.genome.jp/dbget-bin/www_bget?ko02001
KEGG_DiseaseH00948http://www.genome.jp/dbget-bin/www_bget?H00948
KEGG_Genehsa:116085http://www.genome.jp/dbget-bin/www_bget?hsa:116085
KEGG_OrthologyKO:K08208http://www.genome.jp/dbget-bin/www_bget?KO:K08208
MIM220150http://www.ncbi.nlm.nih.gov/omim/220150
MIM607096http://www.ncbi.nlm.nih.gov/omim/607096
OMAVRDWTLLhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=VRDWTLL
Orphanet94088http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=94088
OrthoDBEOG091G068Ghttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G068G
PROSITEPS50850http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50850
PSORT-Bswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:S22AC_HUMAN
PSORT2swissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:S22AC_HUMAN
PSORTswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:S22AC_HUMAN
PfamPF00083http://pfam.xfam.org/family/PF00083
PharmGKBPA38478http://www.pharmgkb.org/do/serve?objId=PA38478&objCls=Gene
Phobiusswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:S22AC_HUMAN
PhylomeDBQ96S37http://phylomedb.org/?seqid=Q96S37
ProteinModelPortalQ96S37http://www.proteinmodelportal.org/query/uniprot/Q96S37
PubMed12024214http://www.ncbi.nlm.nih.gov/pubmed/12024214
PubMed12975309http://www.ncbi.nlm.nih.gov/pubmed/12975309
PubMed14531806http://www.ncbi.nlm.nih.gov/pubmed/14531806
PubMed14694169http://www.ncbi.nlm.nih.gov/pubmed/14694169
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15304510http://www.ncbi.nlm.nih.gov/pubmed/15304510
PubMed15327384http://www.ncbi.nlm.nih.gov/pubmed/15327384
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15634722http://www.ncbi.nlm.nih.gov/pubmed/15634722
PubMed15912381http://www.ncbi.nlm.nih.gov/pubmed/15912381
PubMed16385546http://www.ncbi.nlm.nih.gov/pubmed/16385546
PubMed16554811http://www.ncbi.nlm.nih.gov/pubmed/16554811
PubMed16837472http://www.ncbi.nlm.nih.gov/pubmed/16837472
PubMed26418379http://www.ncbi.nlm.nih.gov/pubmed/26418379
ReactomeR-HSA-561048http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-561048
RefSeqNP_001263255http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263255
RefSeqNP_001263256http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001263256
RefSeqNP_653186http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_653186
RefSeqNP_700357http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_700357
STRING9606.ENSP00000366797http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000366797&targetmode=cogs
SUPFAMSSF103473http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF103473
TCDB2.A.1.19.11http://www.tcdb.org/search/result.php?tc=2.A.1.19.11
UCSCuc001oalhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001oal&org=rat
UniGeneHs.174424http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.174424
UniGeneHs.700182http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.700182
UniProtKB-ACQ96S37http://www.uniprot.org/uniprot/Q96S37
UniProtKBS22AC_HUMANhttp://www.uniprot.org/uniprot/S22AC_HUMAN
chargeswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:S22AC_HUMAN
eggNOGCOG0477http://eggnogapi.embl.de/nog_data/html/tree/COG0477
eggNOGKOG0255http://eggnogapi.embl.de/nog_data/html/tree/KOG0255
epestfindswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:S22AC_HUMAN
garnierswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:S22AC_HUMAN
helixturnhelixswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:S22AC_HUMAN
hmomentswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:S22AC_HUMAN
iepswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:S22AC_HUMAN
inforesidueswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:S22AC_HUMAN
neXtProtNX_Q96S37http://www.nextprot.org/db/entry/NX_Q96S37
octanolswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:S22AC_HUMAN
pepcoilswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:S22AC_HUMAN
pepdigestswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:S22AC_HUMAN
pepinfoswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:S22AC_HUMAN
pepnetswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:S22AC_HUMAN
pepstatsswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:S22AC_HUMAN
pepwheelswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:S22AC_HUMAN
pepwindowswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:S22AC_HUMAN
sigcleaveswissprot:S22AC_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:S22AC_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSCD3D_HUMANEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P04234-1; Sequence=Displayed; Name=2; IsoId=P04234-2; Sequence=VSP_045800; Note=No experimental confirmation available.;
# AltNameCD3D_HUMANCD3d
# AltNameCD3D_HUMANT-cell receptor T3 delta chain
# BioGrid1073539
# CCDSCCDS41724-. [P04234-2]
# CCDSCCDS8394-. [P04234-1]
# ChiTaRSCD3Dhuman
# DISEASECD3D_HUMANImmunodeficiency 19 (IMD19) [MIM 615617] An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK- cell positive phenotype. {ECO 0000269|PubMed 15546002, ECO 0000269|PubMed 21883749}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DISEASECD3D_HUMANSevere combined immunodeficiency autosomal recessive T- cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM 608971] A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO 0000269|PubMed 14602880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DrugBankDB00075Muromonab
# DrugBankDB09052Blinatumomab
# EnsemblENST00000300692ENSP00000300692; ENSG00000167286. [P04234-1]
# EnsemblENST00000392884ENSP00000376622; ENSG00000167286. [P04234-2]
# ExpressionAtlasP04234baseline and differential
# FUNCTIONCD3D_HUMANThe CD3 complex mediates signal transduction.
# GO_componentGO:0005737cytoplasm; NAS:UniProtKB.
# GO_componentGO:0005886plasma membrane; TAS:Reactome.
# GO_componentGO:0016021integral component of membrane; IEA:UniProtKB-KW.
# GO_componentGO:0042101T cell receptor complex; NAS:UniProtKB.
# GO_componentGO:0042105alpha-beta T cell receptor complex; IEA:Ensembl.
# GO_functionGO:0003713transcription coactivator activity; IDA:MGI.
# GO_functionGO:0004888transmembrane signaling receptor activity; IC:UniProtKB.
# GO_functionGO:0046982protein heterodimerization activity; IPI:UniProtKB.
# GO_processGO:0007166cell surface receptor signaling pathway; IC:UniProtKB.
# GO_processGO:0030217T cell differentiation; IDA:MGI.
# GO_processGO:0031295T cell costimulation; TAS:Reactome.
# GO_processGO:0045059positive thymic T cell selection; ISS:UniProtKB.
# GO_processGO:0045944positive regulation of transcription from RNA polymerase II promoter; IDA:MGI.
# GO_processGO:0050776regulation of immune response; TAS:Reactome.
# GO_processGO:0050852T cell receptor signaling pathway; TAS:Reactome.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005886plasma membrane
# GOslim_functionGO:0000988transcription factor activity, protein binding
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0004871signal transducer activity
# GOslim_processGO:0002376immune system process
# GOslim_processGO:0007155cell adhesion
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0030154cell differentiation
# Gene3D2.60.40.10-; 1.
# GenevisibleP04234HS
# HGNCHGNC:1673CD3D
# IntActP042344
# InterProIPR003110Phos_immunorcpt_sig_ITAM
# InterProIPR007110Ig-like_dom
# InterProIPR013783Ig-like_fold
# InterProIPR015484CD3_esu/gsu/dsu
# InterProIPR015485CD3D
# InterProIPR032052Ig_4
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko04090 Cellular antigens
# KEGG_DiseaseH00091[Primary immunodeficiency] Immunodeficiency with thynoma
# KEGG_Pathwayko04640Hematopoietic cell lineage
# KEGG_Pathwayko04660T cell receptor signaling pathway
# KEGG_Pathwayko05142Chagas disease (American trypanosomiasis)
# KEGG_Pathwayko05162Measles
# KEGG_Pathwayko05166HTLV-I infection
# KEGG_Pathwayko05340Primary immunodeficiency
# MIM186790gene
# MIM608971phenotype
# MIM615617phenotype
# OrganismCD3D_HUMANHomo sapiens (Human)
# Orphanet169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
# PANTHERPTHR10570:SF5PTHR10570:SF5
# PANTHERPTHR10570PTHR10570
# PDB1XIWX-ray; 1.90 A; B/F=23-100
# PIRA94706RWHUD1
# PROSITEPS51055ITAM_1
# PfamPF02189ITAM
# PfamPF16680Ig_4
# ProteomesUP000005640Chromosome 11
# ReactomeR-HSA-198933Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
# ReactomeR-HSA-202424Downstream TCR signaling
# ReactomeR-HSA-202427Phosphorylation of CD3 and TCR zeta chains
# ReactomeR-HSA-202430Translocation of ZAP-70 to Immunological synapse
# ReactomeR-HSA-202433Generation of second messenger molecules
# ReactomeR-HSA-389948PD-1 signaling
# ReactomeR-HSA-8856825Cargo recognition for clathrin-mediated endocytosis
# ReactomeR-HSA-8856828Clathrin-mediated endocytosis
# RecNameCD3D_HUMANT-cell surface glycoprotein CD3 delta chain
# RefSeqNP_000723NM_000732.4. [P04234-1]
# RefSeqNP_001035741NM_001040651.1. [P04234-2]
# RefSeqXP_016874032XM_017018543.1. [P04234-1]
# SIMILARITYContains 1 ITAM domain. {ECO:0000255|PROSITE- ProRulePRU00379}.
# SMARTSM00077ITAM
# SUBCELLULAR LOCATIONCD3D_HUMANMembrane; Single-pass type I membrane protein.
# SUBUNITThe TCR/CD3 complex of T-lymphocytes consists of either a TCR alpha/beta or TCR gamma/delta heterodimer coexpressed at the cell surface with the invariant subunits of CD3 labeled gamma, delta, epsilon, zeta, and eta. {ECO:0000269|PubMed15534202}.
# SUPFAMSSF48726SSF48726
# UCSCuc001psshuman. [P04234-1]
# WEB RESOURCECD3D_HUMANName=CD3Dbase; Note=CD3D mutation db; URL="http //structure.bmc.lu.se/idbase/CD3Dbase/";
# eggNOGENOG410IWAXEukaryota
# eggNOGENOG410Y2TDLUCA
BLASTswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:CD3D_HUMAN
BioCycZFISH:ENSG00000167286-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000167286-MONOMER
COXPRESdb915http://coxpresdb.jp/data/gene/915.shtml
CleanExHS_CD3Dhttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_CD3D
DIPDIP-42855Nhttp://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-42855N
DOI10.1016/j.ygeno.2003.09.023http://dx.doi.org/10.1016/j.ygeno.2003.09.023
DOI10.1021/ac035352dhttp://dx.doi.org/10.1021/ac035352d
DOI10.1038/312413a0http://dx.doi.org/10.1038/312413a0
DOI10.1038/nature04632http://dx.doi.org/10.1038/nature04632
DOI10.1056/NEJMoa031178http://dx.doi.org/10.1056/NEJMoa031178
DOI10.1073/pnas.0407359101http://dx.doi.org/10.1073/pnas.0407359101
DOI10.1073/pnas.2436191100http://dx.doi.org/10.1073/pnas.2436191100
DOI10.1073/pnas.83.9.2944http://dx.doi.org/10.1073/pnas.83.9.2944
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1111/j.1399-3046.2011.01563.xhttp://dx.doi.org/10.1111/j.1399-3046.2011.01563.x
DOI10.1111/j.1432-1033.1989.tb14693.xhttp://dx.doi.org/10.1111/j.1432-1033.1989.tb14693.x
DOI10.1126/scisignal.2000007http://dx.doi.org/10.1126/scisignal.2000007
DOI10.1172/JCI22588http://dx.doi.org/10.1172/JCI22588
DisProtDP00505http://www.disprot.org/protein.php?id=DP00505
DrugBankDB00075http://www.drugbank.ca/drugs/DB00075
DrugBankDB09052http://www.drugbank.ca/drugs/DB09052
EMBLAP001582http://www.ebi.ac.uk/ena/data/view/AP001582
EMBLBC039035http://www.ebi.ac.uk/ena/data/view/BC039035
EMBLBC070321http://www.ebi.ac.uk/ena/data/view/BC070321
EMBLCD014058http://www.ebi.ac.uk/ena/data/view/CD014058
EMBLM12726http://www.ebi.ac.uk/ena/data/view/M12726
EMBLM12727http://www.ebi.ac.uk/ena/data/view/M12727
EMBLX01451http://www.ebi.ac.uk/ena/data/view/X01451
EMBLX03934http://www.ebi.ac.uk/ena/data/view/X03934
EnsemblENST00000300692http://www.ensembl.org/id/ENST00000300692
EnsemblENST00000392884http://www.ensembl.org/id/ENST00000392884
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0016021http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021
GO_componentGO:0042101http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042101
GO_componentGO:0042105http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042105
GO_functionGO:0003713http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003713
GO_functionGO:0004888http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004888
GO_functionGO:0046982http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046982
GO_processGO:0007166http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007166
GO_processGO:0030217http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030217
GO_processGO:0031295http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031295
GO_processGO:0045059http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045059
GO_processGO:0045944http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944
GO_processGO:0050776http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050776
GO_processGO:0050852http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050852
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_functionGO:0000988http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000988
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0004871http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871
GOslim_processGO:0002376http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376
GOslim_processGO:0007155http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007155
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0030154http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030154
Gene3D2.60.40.10http://www.cathdb.info/version/latest/superfamily/2.60.40.10
GeneCardsCD3Dhttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=CD3D
GeneID915http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=915
GeneTreeENSGT00510000046930http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000046930
HGNCHGNC:1673http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:1673
HOGENOMHOG000015287http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000015287&db=HOGENOM6
HOVERGENHBG005278http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG005278&db=HOVERGEN
HPACAB013055http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB013055
InParanoidP04234http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P04234
IntActP04234http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P04234*
InterProIPR003110http://www.ebi.ac.uk/interpro/entry/IPR003110
InterProIPR007110http://www.ebi.ac.uk/interpro/entry/IPR007110
InterProIPR013783http://www.ebi.ac.uk/interpro/entry/IPR013783
InterProIPR015484http://www.ebi.ac.uk/interpro/entry/IPR015484
InterProIPR015485http://www.ebi.ac.uk/interpro/entry/IPR015485
InterProIPR032052http://www.ebi.ac.uk/interpro/entry/IPR032052
Jabion915http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=915
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko04090http://www.genome.jp/dbget-bin/www_bget?ko04090
KEGG_DiseaseH00091http://www.genome.jp/dbget-bin/www_bget?H00091
KEGG_Genehsa:915http://www.genome.jp/dbget-bin/www_bget?hsa:915
KEGG_OrthologyKO:K06450http://www.genome.jp/dbget-bin/www_bget?KO:K06450
KEGG_Pathwayko04640http://www.genome.jp/kegg-bin/show_pathway?ko04640
KEGG_Pathwayko04660http://www.genome.jp/kegg-bin/show_pathway?ko04660
KEGG_Pathwayko05142http://www.genome.jp/kegg-bin/show_pathway?ko05142
KEGG_Pathwayko05162http://www.genome.jp/kegg-bin/show_pathway?ko05162
KEGG_Pathwayko05166http://www.genome.jp/kegg-bin/show_pathway?ko05166
KEGG_Pathwayko05340http://www.genome.jp/kegg-bin/show_pathway?ko05340
MIM186790http://www.ncbi.nlm.nih.gov/omim/186790
MIM608971http://www.ncbi.nlm.nih.gov/omim/608971
MIM615617http://www.ncbi.nlm.nih.gov/omim/615617
MINTMINT-3374023http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-3374023
OMAMCQSCVEhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=MCQSCVE
Orphanet169160http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=169160
OrthoDBEOG091G0U7Xhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G0U7X
PANTHERPTHR10570:SF5http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10570:SF5
PANTHERPTHR10570http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10570
PDB1XIWhttp://www.ebi.ac.uk/pdbe-srv/view/entry/1XIW
PDBsum1XIWhttp://www.ebi.ac.uk/pdbsum/1XIW
PROSITEPS51055http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51055
PSORT-Bswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:CD3D_HUMAN
PSORT2swissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:CD3D_HUMAN
PSORTswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:CD3D_HUMAN
PfamPF02189http://pfam.xfam.org/family/PF02189
PfamPF16680http://pfam.xfam.org/family/PF16680
PharmGKBPA26215http://www.pharmgkb.org/do/serve?objId=PA26215&objCls=Gene
Phobiusswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:CD3D_HUMAN
PhylomeDBP04234http://phylomedb.org/?seqid=P04234
ProteinModelPortalP04234http://www.proteinmodelportal.org/query/uniprot/P04234
PubMed12522270http://www.ncbi.nlm.nih.gov/pubmed/12522270
PubMed14602880http://www.ncbi.nlm.nih.gov/pubmed/14602880
PubMed15028279http://www.ncbi.nlm.nih.gov/pubmed/15028279
PubMed15144186http://www.ncbi.nlm.nih.gov/pubmed/15144186
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15534202http://www.ncbi.nlm.nih.gov/pubmed/15534202
PubMed15546002http://www.ncbi.nlm.nih.gov/pubmed/15546002
PubMed16554811http://www.ncbi.nlm.nih.gov/pubmed/16554811
PubMed19690332http://www.ncbi.nlm.nih.gov/pubmed/19690332
PubMed21883749http://www.ncbi.nlm.nih.gov/pubmed/21883749
PubMed2540970http://www.ncbi.nlm.nih.gov/pubmed/2540970
PubMed2939461http://www.ncbi.nlm.nih.gov/pubmed/2939461
PubMed3488209http://www.ncbi.nlm.nih.gov/pubmed/3488209
PubMed6095101http://www.ncbi.nlm.nih.gov/pubmed/6095101
ReactomeR-HSA-198933http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-198933
ReactomeR-HSA-202424http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-202424
ReactomeR-HSA-202427http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-202427
ReactomeR-HSA-202430http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-202430
ReactomeR-HSA-202433http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-202433
ReactomeR-HSA-389948http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-389948
ReactomeR-HSA-8856825http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856825
ReactomeR-HSA-8856828http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8856828
RefSeqNP_000723http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_000723
RefSeqNP_001035741http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001035741
RefSeqXP_016874032http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016874032
SMARTSM00077http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00077
SMRP04234http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P04234
STRING9606.ENSP00000300692http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000300692&targetmode=cogs
SUPFAMSSF48726http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF48726
UCSCuc001psshttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001pss&org=rat
UniGeneHs.504048http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.504048
UniProtKB-ACP04234http://www.uniprot.org/uniprot/P04234
UniProtKBCD3D_HUMANhttp://www.uniprot.org/uniprot/CD3D_HUMAN
chargeswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:CD3D_HUMAN
eggNOGENOG410IWAXhttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410IWAX
eggNOGENOG410Y2TDhttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410Y2TD
epestfindswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:CD3D_HUMAN
garnierswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:CD3D_HUMAN
helixturnhelixswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:CD3D_HUMAN
hmomentswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:CD3D_HUMAN
iepswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:CD3D_HUMAN
inforesidueswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:CD3D_HUMAN
neXtProtNX_P04234http://www.nextprot.org/db/entry/NX_P04234
octanolswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:CD3D_HUMAN
pepcoilswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:CD3D_HUMAN
pepdigestswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:CD3D_HUMAN
pepinfoswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:CD3D_HUMAN
pepnetswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:CD3D_HUMAN
pepstatsswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:CD3D_HUMAN
pepwheelswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:CD3D_HUMAN
pepwindowswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:CD3D_HUMAN
sigcleaveswissprot:CD3D_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:CD3D_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSPIGA_HUMANEvent=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.;
# AltNamePIGA_HUMANGlcNAc-PI synthesis protein
# AltNamePIGA_HUMANPhosphatidylinositol-glycan biosynthesis class A protein
# BioGrid11129526
# CATALYTIC ACTIVITYPIGA_HUMANUDP-N-acetyl-D-glucosamine + 1-phosphatidyl- 1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol.
# CAZyGT4Glycosyltransferase Family 4
# CCDSCCDS14165-. [P37287-1]
# CCDSCCDS48086-. [P37287-3]
# DISEASEPIGA_HUMANMultiple 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.
# DISEASEPIGA_HUMANParoxysmal 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.
# EnsemblENST00000333590ENSP00000369820; ENSG00000165195. [P37287-1]
# EnsemblENST00000482148ENSP00000489528; ENSG00000165195. [P37287-2]
# EnsemblENST00000542278ENSP00000442653; ENSG00000165195. [P37287-1]
# EnsemblENST00000634582ENSP00000489540; ENSG00000165195. [P37287-3]
# ExpressionAtlasP37287baseline and differential
# FUNCTIONPIGA_HUMANNecessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.
# GO_componentGO:0000506glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex; IDA:HGNC.
# GO_componentGO:0005789endoplasmic reticulum membrane; IDA:HGNC.
# GO_componentGO:0016020membrane; IDA:UniProtKB.
# GO_componentGO:0016021integral component of membrane; IEA:UniProtKB-KW.
# GO_functionGO:0008194UDP-glycosyltransferase activity; TAS:Reactome.
# GO_functionGO:0017176phosphatidylinositol N-acetylglucosaminyltransferase activity; TAS:HGNC.
# GO_processGO:0006506GPI anchor biosynthetic process; TAS:HGNC.
# GO_processGO:0009893positive regulation of metabolic process; TAS:HGNC.
# GO_processGO:0016254preassembly of GPI anchor in ER membrane; TAS:Reactome.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0043234protein complex
# GOslim_functionGO:0016757transferase activity, transferring glycosyl groups
# GOslim_processGO:0006464cellular protein modification process
# GOslim_processGO:0006629lipid metabolic process
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0009058biosynthetic process
# GenevisibleP37287HS
# HGNCHGNC:8957PIGA
# InterProIPR001296Glyco_trans_1
# InterProIPR013234PIGA_GPI_anchor_biosynthesis
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko00002 KEGG pathway modules
# KEGG_Briteko01000 Enzymes
# KEGG_Briteko01003 Glycosyltransferases
# KEGG_DiseaseH01053[Hematologic disease] Paroxysmal nocturnal hemoglobinuria (PNH)
# KEGG_DiseaseH01486[Inherited metabolic disease] Multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)
# KEGG_DiseaseH01489:[Inherited metabolic disease] Hyperphosphatasia with mental retardation syndrome (HPMRS) [DSH01488]
# KEGG_Pathwayko00563Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
# MIM300818phenotype
# MIM300868phenotype
# MIM311770gene
# OrganismPIGA_HUMANHomo sapiens (Human)
# Orphanet300496Multiple congenital anomalies-hypotonia-seizures syndrome type 2
# Orphanet3451West syndrome
# Orphanet397922Ferro-cerebro-cutaneous syndrome
# Orphanet447Paroxysmal nocturnal hemoglobinuria
# PATHWAYPIGA_HUMANGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
# PIRA46217A46217
# PfamPF00534Glycos_transf_1
# PfamPF08288PIGA
# ProteomesUP000005640Chromosome X
# ReactomeR-HSA-162710Synthesis of glycosylphosphatidylinositol (GPI)
# RecNamePIGA_HUMANPhosphatidylinositol N-acetylglucosaminyltransferase subunit A
# RefSeqNP_002632NM_002641.3. [P37287-1]
# RefSeqNP_065206NM_020473.3. [P37287-3]
# RefSeqXP_016885070XM_017029581.1. [P37287-1]
# SIMILARITYBelongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. {ECO0000305}.
# SUBCELLULAR LOCATIONPIGA_HUMANEndoplasmic reticulum membrane; Single-pass membrane protein.
# SUBUNITAssociates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity. Interacts directly with PIGY. {ECO:0000269|PubMed16162815}.
# UCSCuc004cwrhuman. [P37287-1]
# WEB RESOURCEPIGA_HUMANName=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";
# eggNOGCOG0438LUCA
# eggNOGKOG1111Eukaryota
BLASTswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:PIGA_HUMAN
BioCycZFISH:HS09198-MONOMERhttp://biocyc.org/getid?id=ZFISH:HS09198-MONOMER
COXPRESdb5277http://coxpresdb.jp/data/gene/5277.shtml
CleanExHS_PIGAhttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_PIGA
DOI10.1002/ajmg.a.36184http://dx.doi.org/10.1002/ajmg.a.36184
DOI10.1002/ajmg.a.36189http://dx.doi.org/10.1002/ajmg.a.36189
DOI10.1006/bcmd.1998.0203http://dx.doi.org/10.1006/bcmd.1998.0203
DOI10.1016/0092-8674(93)90250-Thttp://dx.doi.org/10.1016/0092-8674(93)90250-T
DOI10.1016/j.ajhg.2011.11.031http://dx.doi.org/10.1016/j.ajhg.2011.11.031
DOI10.1016/j.molcel.2008.07.007http://dx.doi.org/10.1016/j.molcel.2008.07.007
DOI10.1021/pr300630khttp://dx.doi.org/10.1021/pr300630k
DOI10.1038/nature03440http://dx.doi.org/10.1038/nature03440
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1091/mbc.E05-08-0743http://dx.doi.org/10.1091/mbc.E05-08-0743
DOI10.1093/hmg/3.5.751http://dx.doi.org/10.1093/hmg/3.5.751
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1126/science.7680492http://dx.doi.org/10.1126/science.7680492
DOI10.1136/jcp.55.6.410http://dx.doi.org/10.1136/jcp.55.6.410
DOI10.1212/WNL.0000000000000389http://dx.doi.org/10.1212/WNL.0000000000000389
EC_numberEC:2.4.1.198http://www.genome.jp/dbget-bin/www_bget?EC:2.4.1.198
EMBLAC095351http://www.ebi.ac.uk/ena/data/view/AC095351
EMBLAK303538http://www.ebi.ac.uk/ena/data/view/AK303538
EMBLBC038236http://www.ebi.ac.uk/ena/data/view/BC038236
EMBLD11466http://www.ebi.ac.uk/ena/data/view/D11466
EMBLD28791http://www.ebi.ac.uk/ena/data/view/D28791
EMBLS61523http://www.ebi.ac.uk/ena/data/view/S61523
EMBLS74936http://www.ebi.ac.uk/ena/data/view/S74936
EMBLX77725http://www.ebi.ac.uk/ena/data/view/X77725
EMBLX77726http://www.ebi.ac.uk/ena/data/view/X77726
EMBLX77727http://www.ebi.ac.uk/ena/data/view/X77727
EMBLX77728http://www.ebi.ac.uk/ena/data/view/X77728
ENZYME2.4.1.198http://enzyme.expasy.org/EC/2.4.1.198
EnsemblENST00000333590http://www.ensembl.org/id/ENST00000333590
EnsemblENST00000482148http://www.ensembl.org/id/ENST00000482148
EnsemblENST00000542278http://www.ensembl.org/id/ENST00000542278
EnsemblENST00000634582http://www.ensembl.org/id/ENST00000634582
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0000506http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000506
GO_componentGO:0005789http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005789
GO_componentGO:0016020http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016020
GO_componentGO:0016021http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021
GO_functionGO:0008194http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008194
GO_functionGO:0017176http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0017176
GO_processGO:0006506http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006506
GO_processGO:0009893http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009893
GO_processGO:0016254http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016254
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0043234http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234
GOslim_functionGO:0016757http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016757
GOslim_processGO:0006464http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464
GOslim_processGO:0006629http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0009058http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058
GeneCardsPIGAhttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=PIGA
GeneID5277http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5277
GeneTreeENSGT00390000014405http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000014405
HGNCHGNC:8957http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:8957
HOGENOMHOG000203293http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000203293&db=HOGENOM6
HOVERGENHBG008198http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG008198&db=HOVERGEN
HPAHPA001174http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA001174
InParanoidP37287http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P37287
IntEnz2.4.1.198http://www.ebi.ac.uk/intenz/query?cmd=Search&q=2.4.1.198
InterProIPR001296http://www.ebi.ac.uk/interpro/entry/IPR001296
InterProIPR013234http://www.ebi.ac.uk/interpro/entry/IPR013234
Jabion5277http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=5277
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko00002http://www.genome.jp/dbget-bin/www_bget?ko00002
KEGG_Briteko01000http://www.genome.jp/dbget-bin/www_bget?ko01000
KEGG_Briteko01003http://www.genome.jp/dbget-bin/www_bget?ko01003
KEGG_DiseaseH01053http://www.genome.jp/dbget-bin/www_bget?H01053
KEGG_DiseaseH01486http://www.genome.jp/dbget-bin/www_bget?H01486
KEGG_DiseaseH01489http://www.genome.jp/dbget-bin/www_bget?H01489
KEGG_Genehsa:5277http://www.genome.jp/dbget-bin/www_bget?hsa:5277
KEGG_OrthologyKO:K03857http://www.genome.jp/dbget-bin/www_bget?KO:K03857
KEGG_Pathwayko00563http://www.genome.jp/kegg-bin/show_pathway?ko00563
KEGG_Reactionrn:R05916http://www.genome.jp/dbget-bin/www_bget?rn:R05916
MIM300818http://www.ncbi.nlm.nih.gov/omim/300818
MIM300868http://www.ncbi.nlm.nih.gov/omim/300868
MIM311770http://www.ncbi.nlm.nih.gov/omim/311770
OMAREKYQLHhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=REKYQLH
Orphanet300496http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=300496
Orphanet3451http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3451
Orphanet397922http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=397922
Orphanet447http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=447
OrthoDBEOG091G060Dhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G060D
PSORT-Bswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:PIGA_HUMAN
PSORT2swissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:PIGA_HUMAN
PSORTswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:PIGA_HUMAN
PfamPF00534http://pfam.xfam.org/family/PF00534
PfamPF08288http://pfam.xfam.org/family/PF08288
PharmGKBPA33288http://www.pharmgkb.org/do/serve?objId=PA33288&objCls=Gene
Phobiusswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:PIGA_HUMAN
PhylomeDBP37287http://phylomedb.org/?seqid=P37287
ProteinModelPortalP37287http://www.proteinmodelportal.org/query/uniprot/P37287
PubMed10087994http://www.ncbi.nlm.nih.gov/pubmed/10087994
PubMed12037021http://www.ncbi.nlm.nih.gov/pubmed/12037021
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15772651http://www.ncbi.nlm.nih.gov/pubmed/15772651
PubMed16162815http://www.ncbi.nlm.nih.gov/pubmed/16162815
PubMed18691976http://www.ncbi.nlm.nih.gov/pubmed/18691976
PubMed22305531http://www.ncbi.nlm.nih.gov/pubmed/22305531
PubMed23186163http://www.ncbi.nlm.nih.gov/pubmed/23186163
PubMed24259184http://www.ncbi.nlm.nih.gov/pubmed/24259184
PubMed24259288http://www.ncbi.nlm.nih.gov/pubmed/24259288
PubMed24706016http://www.ncbi.nlm.nih.gov/pubmed/24706016
PubMed7680492http://www.ncbi.nlm.nih.gov/pubmed/7680492
PubMed8081230http://www.ncbi.nlm.nih.gov/pubmed/8081230
PubMed8081362http://www.ncbi.nlm.nih.gov/pubmed/8081362
PubMed8167330http://www.ncbi.nlm.nih.gov/pubmed/8167330
PubMed8193350http://www.ncbi.nlm.nih.gov/pubmed/8193350
PubMed8306954http://www.ncbi.nlm.nih.gov/pubmed/8306954
PubMed8500164http://www.ncbi.nlm.nih.gov/pubmed/8500164
ReactomeR-HSA-162710http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-162710
RefSeqNP_002632http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_002632
RefSeqNP_065206http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_065206
RefSeqXP_016885070http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016885070
STRING9606.ENSP00000369820http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000369820&targetmode=cogs
UCSCuc004cwrhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc004cwr&org=rat
UniGeneHs.137154http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.137154
UniProtKB-ACP37287http://www.uniprot.org/uniprot/P37287
UniProtKBPIGA_HUMANhttp://www.uniprot.org/uniprot/PIGA_HUMAN
chargeswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:PIGA_HUMAN
eggNOGCOG0438http://eggnogapi.embl.de/nog_data/html/tree/COG0438
eggNOGKOG1111http://eggnogapi.embl.de/nog_data/html/tree/KOG1111
epestfindswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:PIGA_HUMAN
garnierswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:PIGA_HUMAN
helixturnhelixswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:PIGA_HUMAN
hmomentswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:PIGA_HUMAN
iepswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:PIGA_HUMAN
inforesidueswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:PIGA_HUMAN
neXtProtNX_P37287http://www.nextprot.org/db/entry/NX_P37287
octanolswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:PIGA_HUMAN
pepcoilswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:PIGA_HUMAN
pepdigestswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:PIGA_HUMAN
pepinfoswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:PIGA_HUMAN
pepnetswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:PIGA_HUMAN
pepstatsswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:PIGA_HUMAN
pepwheelswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:PIGA_HUMAN
pepwindowswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:PIGA_HUMAN
sigcleaveswissprot:PIGA_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:PIGA_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSAGRIN_HUMANEvent=Alternative splicing; Named isoforms=7; Comment=Many isoforms may exist depending on the occurrence and length of inserts at the x, y or z splice site. Four 'z' isoforms can be produced with inserts of 0, 8, 11 or 19 AA. Isoforms differ in their acetylcholine receptor clustering activity and tissue specificity.; Name=1; Synonyms=Secreted agrin, LN-agrin; IsoId=O00468-1; Sequence=Displayed; Name=2; Synonyms=Transmembrane agrin, TM-agrin; IsoId=O00468-2; Sequence=VSP_045753, VSP_045754; Note=Produced by usage of an alternative first exon.; Name=3; Synonyms=Agrin z(0); IsoId=O00468-3; Sequence=VSP_045756; Name=4; Synonyms=Agrin z(+11); IsoId=O00468-4; Sequence=VSP_045757; Name=5; Synonyms=Agrin z(+8); IsoId=O00468-5; Sequence=VSP_045758; Name=6; Synonyms=Agrin y(0)z(0); IsoId=O00468-6; Sequence=VSP_045755, VSP_045756; Name=7; Synonyms=y(0); IsoId=O00468-7; Sequence=VSP_045755;
# BioGrid13200015
# CAUTIONThe unknown residue 'x' in the transmembrane isoform is probably a proline residue by similarity to mouse and rat sequences. {ECO0000305}.
# CCDSCCDS30551-. [O00468-6]
# ChiTaRSAGRNhuman
# DISEASEAGRIN_HUMANMyasthenic syndrome, congenital, 8 (CMS8) [MIM 615120] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS8 is an autosomal recessive disease characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable. {ECO 0000269|PubMed 19631309, ECO 0000269|PubMed 22205389, ECO 0000269|PubMed 24951643}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DOMAINAGRIN_HUMANBoth laminin G-like 2 (G2) and laminin G-like 3 (G3) domains are required for alpha-dystroglycan/DAG1 binding. G3 domain is required for C-terminal heparin, heparan sulfate and sialic acid binding (By similarity). {ECO 0000250}.
# DOMAINAGRIN_HUMANThe NtA domain, absent in TM-agrin, is required for binding laminin and connecting to basal lamina.
# EnsemblENST00000379370ENSP00000368678; ENSG00000188157. [O00468-6]
# ExpressionAtlasO00468baseline and differential
# FUNCTIONAGRIN_HUMANAgrin C-terminal 22 kDa fragment this released fragment is important for agrin signaling and to exert a maximal dendritic filopodia-inducing effect. All 'z' splice variants (z+) of this fragment also show an increase in the number of filopodia.
# FUNCTIONAGRIN_HUMANAgrin N-terminal 110 kDa subunit is involved in regulation of neurite outgrowth probably due to the presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr- and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity). {ECO 0000250, ECO 0000269|PubMed 19631309, ECO 0000269|PubMed 21969364}.
# FUNCTIONAGRIN_HUMANIsoform 1 heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Calcium ions are required for maximal AChR clustering. AGRN function in neurons is highly regulated by alternative splicing, glycan binding and proteolytic processing. Modulates calcium ion homeostasis in neurons, specifically by inducing an increase in cytoplasmic calcium ions. Functions differentially in the central nervous system (CNS) by inhibiting the alpha(3)- subtype of Na+/K+-ATPase and evoking depolarization at CNS synapses. This secreted isoform forms a bridge, after release from motor neurons, to basal lamina through binding laminin via the NtA domain.
# FUNCTIONAGRIN_HUMANIsoform 1, isoform 4 and isoform 5 neuron-specific (z+) isoforms that contain C-terminal insertions of 8-19 AA are potent activators of AChR clustering. Isoform 5, agrin (z+8), containing the 8-AA insert, forms a receptor complex in myotubules containing the neuronal AGRN, the muscle-specific kinase MUSK and LRP4, a member of the LDL receptor family. The splicing factors, NOVA1 and NOVA2, regulate AGRN splicing and production of the 'z' isoforms.
# FUNCTIONAGRIN_HUMANIsoform 2 transmembrane form that is the predominate form in neurons of the brain, induces dendritic filopodia and synapse formation in mature hippocampal neurons in large part due to the attached glycosaminoglycan chains and the action of Rho- family GTPases.
# FUNCTIONAGRIN_HUMANIsoform 3 and isoform 6 lack any 'z' insert, are muscle-specific and may be involved in endothelial cell differentiation.
# GO_componentGO:0005576extracellular region; TAS:Reactome.
# GO_componentGO:0005605basal lamina; IDA:UniProtKB.
# GO_componentGO:0005737cytoplasm; IDA:HPA.
# GO_componentGO:0005796Golgi lumen; TAS:Reactome.
# GO_componentGO:0005886plasma membrane; IDA:HPA.
# GO_componentGO:0016021integral component of membrane; IEA:UniProtKB-KW.
# GO_componentGO:0030054cell junction; IEA:UniProtKB-KW.
# GO_componentGO:0031012extracellular matrix; IDA:UniProtKB.
# GO_componentGO:0043202lysosomal lumen; TAS:Reactome.
# GO_componentGO:0045202synapse; ISS:UniProtKB.
# GO_componentGO:0070062extracellular exosome; IDA:UniProtKB.
# GO_functionGO:0002162dystroglycan binding; ISS:UniProtKB.
# GO_functionGO:0005200structural constituent of cytoskeleton; TAS:UniProtKB.
# GO_functionGO:0005509calcium ion binding; ISS:UniProtKB.
# GO_functionGO:0033691sialic acid binding; ISS:UniProtKB.
# GO_functionGO:0035374chondroitin sulfate binding; ISS:UniProtKB.
# GO_functionGO:0043236laminin binding; TAS:UniProtKB.
# GO_functionGO:0043395heparan sulfate proteoglycan binding; ISS:UniProtKB.
# GO_processGO:0001523retinoid metabolic process; TAS:Reactome.
# GO_processGO:0006024glycosaminoglycan biosynthetic process; TAS:Reactome.
# GO_processGO:0006027glycosaminoglycan catabolic process; TAS:Reactome.
# GO_processGO:0007165signal transduction; TAS:UniProtKB.
# GO_processGO:0007213G-protein coupled acetylcholine receptor signaling pathway; TAS:UniProtKB.
# GO_processGO:0030198extracellular matrix organization; TAS:Reactome.
# GO_processGO:0030203glycosaminoglycan metabolic process; TAS:Reactome.
# GO_processGO:0043113receptor clustering; IDA:UniProtKB.
# GO_processGO:0043547positive regulation of GTPase activity; ISS:UniProtKB.
# GO_processGO:0045162clustering of voltage-gated sodium channels; TAS:UniProtKB.
# GO_processGO:0045887positive regulation of synaptic growth at neuromuscular junction; ISS:UniProtKB.
# GO_processGO:0045944positive regulation of transcription from RNA polymerase II promoter; ISS:UniProtKB.
# GO_processGO:0050808synapse organization; TAS:UniProtKB.
# GO_processGO:0051491positive regulation of filopodium assembly; ISS:UniProtKB.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005576extracellular region
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005886plasma membrane
# GOslim_componentGO:0043226organelle
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0005198structural molecule activity
# GOslim_functionGO:0043167ion binding
# GOslim_processGO:0006629lipid metabolic process
# GOslim_processGO:0007165signal transduction
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0009056catabolic process
# GOslim_processGO:0009058biosynthetic process
# GOslim_processGO:0030198extracellular matrix organization
# GOslim_processGO:0061024membrane organization
# Gene3D2.60.120.200-; 3.
# Gene3D3.30.70.960-; 1.
# GenevisibleO00468HS
# HGNCHGNC:329AGRN
# INTERACTIONAGRIN_HUMANO15265 ATXN7; NbExp=2; IntAct=EBI-947482, EBI-708350;
# IntActO004688
# InterProIPR000082SEA_dom
# InterProIPR000742EGF-like_dom
# InterProIPR001791Laminin_G
# InterProIPR001881EGF-like_Ca-bd_dom
# InterProIPR002049Laminin_EGF
# InterProIPR002350Kazal_dom
# InterProIPR003645Fol_N
# InterProIPR003884FacI_MAC
# InterProIPR004850NtA_dom
# InterProIPR008993TIMP-like_OB-fold
# InterProIPR013032EGF-like_CS
# InterProIPR013320ConA-like_dom
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko00535 Proteoglycans
# KEGG_Briteko04516 Cell adhesion molecules and their ligands
# KEGG_DiseaseH00770[Nervous system disease] Congenital myasthenic syndrome
# KEGG_Pathwayko04512ECM-receptor interaction
# MIM103320gene
# MIM615120phenotype
# MISCELLANEOUSCleaved C-terminal fragments may be used as a biomarker for sarcopenia, age-related progressive loss of skeletal muscle. {ECO:0000305|PubMed22683512}.
# OrganismAGRIN_HUMANHomo sapiens (Human)
# Orphanet98913Postsynaptic congenital myasthenic syndromes
# Orphanet98914Presynaptic congenital myasthenic syndromes
# PROSITEPS00022EGF_1; 6
# PROSITEPS01186EGF_2
# PROSITEPS01248EGF_LAM_1
# PROSITEPS50024SEA
# PROSITEPS50025LAM_G_DOMAIN; 3
# PROSITEPS50026EGF_3; 4
# PROSITEPS50027EGF_LAM_2; 2
# PROSITEPS51121NTA
# PROSITEPS51465KAZAL_2; 9
# PTMAGRIN_HUMANAt synaptic junctions, cleaved at two conserved sites, alpha and beta, by neurotrypsin. Cleavage at the alpha-site produces the agrin N-terminal 110-kDa subunit and the agrin C-terminal 110-kDa subunit. Further cleavage of agrin C-terminal 110-kDa subunit at the beta site produces the C-terminal fragments, agrin C-terminal 90 kDa fragment and agrin C-terminal 22 kDa fragment. Excessive cleavage at the beta-site releases large amounts of the agrin C- terminal 22 kDa fragment leading to destabilization at the neuromuscular junction (NMJ).
# PTMAGRIN_HUMANContains heparan and chondroitin sulfate chains and alpha- dystroglycan as well as N-linked and O-linked oligosaccharides. Glycosaminoglycans (GAGs), present in the N-terminal 110 kDa fragment, are required for induction of filopodia in hippocampal neurons. The first cluster (Gly/Ser-rich) for GAG attachment contains heparan sulfate (HS) chains and the second cluster (Ser/Thr-rich), contains chondroitin sulfate (CS) chains. Heparin and heparin sulfate binding in the G3 domain is independent of calcium ions. Binds heparin with a stoichiometry of 2 1. Binds sialic acid with a stoichiometry of 1 1 and binding requires calcium ions (By similarity). {ECO 0000250}.
# PfamPF00008EGF; 2
# PfamPF00050Kazal_1; 2
# PfamPF00053Laminin_EGF; 2
# PfamPF00054Laminin_G_1; 3
# PfamPF01390SEA
# PfamPF03146NtA
# PfamPF07648Kazal_2; 7
# ProteomesUP000005640Chromosome 1
# ReactomeR-HSA-1971475A tetrasaccharide linker sequence is required for GAG synthesis
# ReactomeR-HSA-2022928HS-GAG biosynthesis
# ReactomeR-HSA-2024096HS-GAG degradation
# ReactomeR-HSA-216083Integrin cell surface interactions
# ReactomeR-HSA-3000171Non-integrin membrane-ECM interactions
# ReactomeR-HSA-3000178ECM proteoglycans
# ReactomeR-HSA-3560783Defective B4GALT7 causes EDS, progeroid type
# ReactomeR-HSA-3560801Defective B3GAT3 causes JDSSDHD
# ReactomeR-HSA-3656237Defective EXT2 causes exostoses 2
# ReactomeR-HSA-3656253Defective EXT1 causes exostoses 1, TRPS2 and CHDS
# ReactomeR-HSA-419037NCAM1 interactions
# ReactomeR-HSA-4420332Defective B3GALT6 causes EDSP2 and SEMDJL1
# ReactomeR-HSA-975634Retinoid metabolism and transport
# RecNameAGRIN_HUMANAgrin C-terminal 110 kDa subunit
# RecNameAGRIN_HUMANAgrin C-terminal 110 kDa subunit
# RecNameAGRIN_HUMANAgrin C-terminal 22 kDa fragment
# RecNameAGRIN_HUMANAgrin C-terminal 90 kDa fragment
# RecNameAGRIN_HUMANAgrin N-terminal 110 kDa subunit
# RecNameAGRIN_HUMANAgrin N-terminal 110 kDa subunit
# RecNameAGRIN_HUMANAgrin
# RecNameAGRIN_HUMANAgrin
# RefSeqNP_940978NM_198576.3. [O00468-6]
# RefSeqXP_005244806XM_005244749.3. [O00468-3]
# SIMILARITYContains 1 NtA (N-terminal agrin) domain. {ECO:0000255|PROSITE-ProRulePRU00443}.
# SIMILARITYContains 1 SEA domain. {ECO:0000255|PROSITE- ProRulePRU00188}.
# SIMILARITYContains 2 laminin EGF-like domains. {ECO:0000255|PROSITE-ProRulePRU00460}.
# SIMILARITYContains 3 laminin G-like domains. {ECO:0000255|PROSITE-ProRulePRU00122}.
# SIMILARITYContains 4 EGF-like domains. {ECO:0000255|PROSITE- ProRulePRU00076}.
# SIMILARITYContains 9 Kazal-like domains. {ECO:0000255|PROSITE- ProRulePRU00798}.
# SMARTSM00057FIMAC; 4
# SMARTSM00179EGF_CA; 3
# SMARTSM00180EGF_Lam; 2
# SMARTSM00181EGF; 7
# SMARTSM00200SEA
# SMARTSM00274FOLN; 5
# SMARTSM00280KAZAL; 9
# SMARTSM00282LamG; 3
# SUBCELLULAR LOCATIONAGRIN_HUMANIsoform 1 Secreted, extracellular space, extracellular matrix {ECO 0000269|PubMed 20551380}. Note=Synaptic basal lamina at the neuromuscular junction. {ECO 0000250|UniProtKB P31696}.
# SUBCELLULAR LOCATIONAGRIN_HUMANIsoform 2 Cell junction, synapse {ECO 0000250|UniProtKB A2ASQ1}. Cell membrane {ECO 0000250|UniProtKB A2ASQ1}; Single-pass type II membrane protein {ECO 0000250|UniProtKB A2ASQ1}.
# SUBUNITAGRIN_HUMANMonomer (By similarity). Interacts (N-terminal subunit) with TGF-beta family members, BMP2 AND BMP4; the interactions inhibit the activity of these growth factors. Interacts with TGFB1; the interaction enhances the activity of TGFB1 (By similarity). Component of the AGRN-LRP4 complex that consists of a tetramer of two AGRN-LRP4 heterodimers. Interacts (via the laminin G-like 3 domain) directly with LRP4; the interaction is required for activation of MUSK and clustering of AChR and requires the 'z8' insert present in the z(+8) isoforms. Interacts with DAG1; the interaction is influenced by cell surface glycosaminoglycans and by alternative splicing of AGRN. {ECO 0000250, ECO 0000269|PubMed 21969364, ECO 0000269|PubMed 22205389, ECO 0000269|PubMed 9151673}.
# SUPFAMSSF49899SSF49899; 4
# SUPFAMSSF50242SSF50242
# SUPFAMSSF82671SSF82671
# TISSUE SPECIFICITYAGRIN_HUMANExpressed in basement membranes of lung and kidney. Muscle- and neuron-specific isoforms are found. Isoforms (y+) with the 4 AA insert and (z+8) isoforms with the 8 AA insert are all neuron-specific. Isoforms (z+11) are found in both neuronal and non-neuronal tissues. {ECO 0000269|PubMed 16487930, ECO 0000269|PubMed 20551380, ECO 0000269|PubMed 9652404}.
# UCSCuc001ackhuman. [O00468-1]
# WEB RESOURCEAGRIN_HUMANName=The Leiden Muscular Dystrophy pages, Agrin (AGRN); Note=Leiden Open Variation Database (LOVD); URL="http //www.lovd.nl/AGRN";
# eggNOGENOG410ITSIEukaryota
# eggNOGENOG410YKSALUCA
BLASTswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:AGRIN_HUMAN
BioCycZFISH:G66-33274-MONOMERhttp://biocyc.org/getid?id=ZFISH:G66-33274-MONOMER
COXPRESdb375790http://coxpresdb.jp/data/gene/375790.shtml
CleanExHS_AGRNhttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_AGRN
DOI10.1006/mcne.2000.0932http://dx.doi.org/10.1006/mcne.2000.0932
DOI10.1007/s00439-011-1132-4http://dx.doi.org/10.1007/s00439-011-1132-4
DOI10.1016/j.ajhg.2009.06.015http://dx.doi.org/10.1016/j.ajhg.2009.06.015
DOI10.1016/j.bbrc.2006.01.161http://dx.doi.org/10.1016/j.bbrc.2006.01.161
DOI10.1016/j.exger.2012.05.021http://dx.doi.org/10.1016/j.exger.2012.05.021
DOI10.1021/pr8008012http://dx.doi.org/10.1021/pr8008012
DOI10.1038/nature04727http://dx.doi.org/10.1038/nature04727
DOI10.1046/j.1432-1327.1998.2540123.xhttp://dx.doi.org/10.1046/j.1432-1327.1998.2540123.x
DOI10.1074/jbc.M111.279307http://dx.doi.org/10.1074/jbc.M111.279307
DOI10.1074/mcp.M110.001693http://dx.doi.org/10.1074/mcp.M110.001693
DOI10.1083/jcb.137.3.671http://dx.doi.org/10.1083/jcb.137.3.671
DOI10.1093/brain/awu160http://dx.doi.org/10.1093/brain/awu160
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
EMBLAB191264http://www.ebi.ac.uk/ena/data/view/AB191264
EMBLAF016903http://www.ebi.ac.uk/ena/data/view/AF016903
EMBLAL645608http://www.ebi.ac.uk/ena/data/view/AL645608
EMBLAL645608http://www.ebi.ac.uk/ena/data/view/AL645608
EMBLBC004220http://www.ebi.ac.uk/ena/data/view/BC004220
EMBLBC007649http://www.ebi.ac.uk/ena/data/view/BC007649
EMBLBC034009http://www.ebi.ac.uk/ena/data/view/BC034009
EMBLBC063620http://www.ebi.ac.uk/ena/data/view/BC063620
EMBLU84406http://www.ebi.ac.uk/ena/data/view/U84406
EnsemblENST00000379370http://www.ensembl.org/id/ENST00000379370
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005576http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576
GO_componentGO:0005605http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005605
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005796http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005796
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0016021http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016021
GO_componentGO:0030054http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030054
GO_componentGO:0031012http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031012
GO_componentGO:0043202http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043202
GO_componentGO:0045202http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202
GO_componentGO:0070062http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062
GO_functionGO:0002162http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002162
GO_functionGO:0005200http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005200
GO_functionGO:0005509http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005509
GO_functionGO:0033691http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033691
GO_functionGO:0035374http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035374
GO_functionGO:0043236http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043236
GO_functionGO:0043395http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043395
GO_processGO:0001523http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001523
GO_processGO:0006024http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006024
GO_processGO:0006027http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006027
GO_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GO_processGO:0007213http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007213
GO_processGO:0030198http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198
GO_processGO:0030203http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030203
GO_processGO:0043113http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043113
GO_processGO:0043547http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043547
GO_processGO:0045162http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045162
GO_processGO:0045887http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045887
GO_processGO:0045944http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944
GO_processGO:0050808http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050808
GO_processGO:0051491http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051491
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005576http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005576
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_componentGO:0043226http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0005198http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005198
GOslim_functionGO:0043167http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167
GOslim_processGO:0006629http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629
GOslim_processGO:0007165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007165
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0009056http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056
GOslim_processGO:0009058http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058
GOslim_processGO:0030198http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030198
GOslim_processGO:0061024http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0061024
Gene3D2.60.120.200http://www.cathdb.info/version/latest/superfamily/2.60.120.200
Gene3D3.30.70.960http://www.cathdb.info/version/latest/superfamily/3.30.70.960
GeneCardsAGRNhttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=AGRN
GeneID375790http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=375790
GeneTreeENSGT00530000063501http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00530000063501
HGNCHGNC:329http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:329
HOGENOMHOG000033860http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000033860&db=HOGENOM6
HOVERGENHBG080471http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG080471&db=HOVERGEN
HPAHPA040090http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA040090
InParanoidO00468http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=O00468
IntActO00468http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=O00468*
InterProIPR000082http://www.ebi.ac.uk/interpro/entry/IPR000082
InterProIPR000742http://www.ebi.ac.uk/interpro/entry/IPR000742
InterProIPR001791http://www.ebi.ac.uk/interpro/entry/IPR001791
InterProIPR001881http://www.ebi.ac.uk/interpro/entry/IPR001881
InterProIPR002049http://www.ebi.ac.uk/interpro/entry/IPR002049
InterProIPR002350http://www.ebi.ac.uk/interpro/entry/IPR002350
InterProIPR003645http://www.ebi.ac.uk/interpro/entry/IPR003645
InterProIPR003884http://www.ebi.ac.uk/interpro/entry/IPR003884
InterProIPR004850http://www.ebi.ac.uk/interpro/entry/IPR004850
InterProIPR008993http://www.ebi.ac.uk/interpro/entry/IPR008993
InterProIPR013032http://www.ebi.ac.uk/interpro/entry/IPR013032
InterProIPR013320http://www.ebi.ac.uk/interpro/entry/IPR013320
Jabion375790http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=375790
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko00535http://www.genome.jp/dbget-bin/www_bget?ko00535
KEGG_Briteko04516http://www.genome.jp/dbget-bin/www_bget?ko04516
KEGG_DiseaseH00770http://www.genome.jp/dbget-bin/www_bget?H00770
KEGG_Genehsa:375790http://www.genome.jp/dbget-bin/www_bget?hsa:375790
KEGG_OrthologyKO:K06254http://www.genome.jp/dbget-bin/www_bget?KO:K06254
KEGG_Pathwayko04512http://www.genome.jp/kegg-bin/show_pathway?ko04512
MIM103320http://www.ncbi.nlm.nih.gov/omim/103320
MIM615120http://www.ncbi.nlm.nih.gov/omim/615120
MINTMINT-4053526http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-4053526
OMAPRCSCDRhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=PRCSCDR
Orphanet98913http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98913
Orphanet98914http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98914
OrthoDBEOG091G048Mhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G048M
PROSITEPS00022http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS00022
PROSITEPS01186http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01186
PROSITEPS01248http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS01248
PROSITEPS50024http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50024
PROSITEPS50025http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50025
PROSITEPS50026http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50026
PROSITEPS50027http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50027
PROSITEPS51121http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51121
PROSITEPS51465http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS51465
PSORT-Bswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:AGRIN_HUMAN
PSORT2swissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:AGRIN_HUMAN
PSORTswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:AGRIN_HUMAN
PfamPF00008http://pfam.xfam.org/family/PF00008
PfamPF00050http://pfam.xfam.org/family/PF00050
PfamPF00053http://pfam.xfam.org/family/PF00053
PfamPF00054http://pfam.xfam.org/family/PF00054
PfamPF01390http://pfam.xfam.org/family/PF01390
PfamPF03146http://pfam.xfam.org/family/PF03146
PfamPF07648http://pfam.xfam.org/family/PF07648
PharmGKBPA24626http://www.pharmgkb.org/do/serve?objId=PA24626&objCls=Gene
Phobiusswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:AGRIN_HUMAN
ProteinModelPortalO00468http://www.proteinmodelportal.org/query/uniprot/O00468
PubMed11161480http://www.ncbi.nlm.nih.gov/pubmed/11161480
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed16487930http://www.ncbi.nlm.nih.gov/pubmed/16487930
PubMed16710414http://www.ncbi.nlm.nih.gov/pubmed/16710414
PubMed19159218http://www.ncbi.nlm.nih.gov/pubmed/19159218
PubMed19631309http://www.ncbi.nlm.nih.gov/pubmed/19631309
PubMed20551380http://www.ncbi.nlm.nih.gov/pubmed/20551380
PubMed21969364http://www.ncbi.nlm.nih.gov/pubmed/21969364
PubMed22205389http://www.ncbi.nlm.nih.gov/pubmed/22205389
PubMed22683512http://www.ncbi.nlm.nih.gov/pubmed/22683512
PubMed24951643http://www.ncbi.nlm.nih.gov/pubmed/24951643
PubMed9151673http://www.ncbi.nlm.nih.gov/pubmed/9151673
PubMed9652404http://www.ncbi.nlm.nih.gov/pubmed/9652404
ReactomeR-HSA-1971475http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-1971475
ReactomeR-HSA-2022928http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2022928
ReactomeR-HSA-2024096http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-2024096
ReactomeR-HSA-216083http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-216083
ReactomeR-HSA-3000171http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3000171
ReactomeR-HSA-3000178http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3000178
ReactomeR-HSA-3560783http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3560783
ReactomeR-HSA-3560801http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3560801
ReactomeR-HSA-3656237http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3656237
ReactomeR-HSA-3656253http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3656253
ReactomeR-HSA-419037http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-419037
ReactomeR-HSA-4420332http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4420332
ReactomeR-HSA-975634http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975634
RefSeqNP_940978http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_940978
RefSeqXP_005244806http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005244806
SMARTSM00057http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00057
SMARTSM00179http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00179
SMARTSM00180http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00180
SMARTSM00181http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00181
SMARTSM00200http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00200
SMARTSM00274http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00274
SMARTSM00280http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00280
SMARTSM00282http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00282
SMRO00468http://swissmodel.expasy.org/repository/smr.php?sptr_ac=O00468
STRING9606.ENSP00000368678http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000368678&targetmode=cogs
SUPFAMSSF49899http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF49899
SUPFAMSSF50242http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF50242
SUPFAMSSF82671http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF82671
UCSCuc001ackhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc001ack&org=rat
UniGeneHs.273330http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.273330
UniGeneHs.602356http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.602356
UniProtKB-ACO00468http://www.uniprot.org/uniprot/O00468
UniProtKBAGRIN_HUMANhttp://www.uniprot.org/uniprot/AGRIN_HUMAN
chargeswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:AGRIN_HUMAN
eggNOGENOG410ITSIhttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410ITSI
eggNOGENOG410YKSAhttp://eggnogapi.embl.de/nog_data/html/tree/ENOG410YKSA
epestfindswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:AGRIN_HUMAN
garnierswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:AGRIN_HUMAN
helixturnhelixswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:AGRIN_HUMAN
hmomentswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:AGRIN_HUMAN
iepswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:AGRIN_HUMAN
inforesidueswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:AGRIN_HUMAN
neXtProtNX_O00468http://www.nextprot.org/db/entry/NX_O00468
octanolswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:AGRIN_HUMAN
pepcoilswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:AGRIN_HUMAN
pepdigestswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:AGRIN_HUMAN
pepinfoswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:AGRIN_HUMAN
pepnetswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:AGRIN_HUMAN
pepstatsswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:AGRIN_HUMAN
pepwheelswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:AGRIN_HUMAN
pepwindowswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:AGRIN_HUMAN
sigcleaveswissprot:AGRIN_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:AGRIN_HUMAN
DataBaseIDURL or Descriptions
# AltNameRING finger protein 168 {ECO:0000255|HAMAP-RuleMF_03066}
# BioGrid12792242
# CAUTIONRN168_HUMANAccording to a well-established model, RNF168 cannot initiate H2A 'Lys-63'-linked ubiquitination and is recruited following RNF8-dependent histone ubiquitination to amplify H2A 'Lys-63'-linked ubiquitination (PubMed 19500350, PubMed 19203578 and PubMed 19203579). However, other data suggest that RNF168 is the priming ubiquitin ligase by mediating monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub respectively) (PubMed 22980979). These data suggest that RNF168 might be recruited to DSBs sites in a RNF8-dependent manner by binding to non-histone proteins ubiquitinated via 'Lys-63'- linked and initiates monoubiquitination of H2A, which is then amplified by RNF8 (PubMed 22980979). Additional evidences are however required to confirm these data. {ECO 0000255|HAMAP- Rule MF_03066, ECO 0000305|PubMed 22980979}.
# ChiTaRSRNF168human
# DISEASERN168_HUMANRiddle syndrome (RIDDLES) [MIM 611943] Characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. Defects are probably due to impaired localization of TP53BP1 and BRCA1 at DNA lesions. {ECO 0000269|PubMed 19203578}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DOMAINRN168_HUMANThe MIU motif (motif interacting with ubiquitin) mediates the interaction with both 'Lys-48'- and 'Lys-63'-linked ubiquitin chains (PubMed 19500350). The UMI motif mediates interaction with ubiquitin with a preference for 'Lys-63'-linked ubiquitin (PubMed 21041483). The specificity for different types of ubiquitin is mediated by juxtaposition of ubiquitin-binding motifs (MIU and UMI motifs) with LR motifs (LRMs) (PubMed 22742833). {ECO 0000255|HAMAP-Rule MF_03066, ECO 0000269|PubMed 19500350, ECO 0000269|PubMed 21041483, ECO 0000269|PubMed 22742833}.
# EnsemblENST00000318037ENSP00000320898; ENSG00000163961
# ExpressionAtlasQ8IYW5baseline and differential
# FUNCTIONRN168_HUMANE3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8- dependent H2A ubiquitination, promoting the formation of 'Lys-63'- linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. Not able to initiate 'Lys-63'-linked ubiquitination in vitro; possibly due to partial occlusion of the UBE2N/UBC13-binding region. Catalyzes monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub, respectively). {ECO 0000255|HAMAP- Rule MF_03066, ECO 0000269|PubMed 19203578, ECO 0000269|PubMed 19203579, ECO 0000269|PubMed 20550933, ECO 0000269|PubMed 22373579, ECO 0000269|PubMed 22705371, ECO 0000269|PubMed 22713238, ECO 0000269|PubMed 22742833, ECO 0000269|PubMed 22980979}.
# GO_componentGO:0000151ubiquitin ligase complex; IDA:UniProtKB.
# GO_componentGO:0005634nucleus; IDA:UniProtKB.
# GO_componentGO:0005654nucleoplasm; IDA:HPA.
# GO_componentGO:0005737cytoplasm; IDA:HPA.
# GO_componentGO:0035861site of double-strand break; IDA:UniProtKB.
# GO_componentGO:0043234protein complex; IDA:MGI.
# GO_functionGO:0003682chromatin binding; IDA:UniProtKB.
# GO_functionGO:0004842ubiquitin-protein transferase activity; IDA:UniProtKB.
# GO_functionGO:0008270zinc ion binding; IEA:InterPro.
# GO_functionGO:0016874ligase activity; IEA:UniProtKB-KW.
# GO_functionGO:0031491nucleosome binding; IDA:UniProtKB.
# GO_functionGO:0042393histone binding; IDA:UniProtKB.
# GO_functionGO:0043130ubiquitin binding; IDA:UniProtKB.
# GO_functionGO:0070530K63-linked polyubiquitin binding; IDA:UniProtKB.
# GO_processGO:0006302double-strand break repair; IDA:UniProtKB.
# GO_processGO:0006303double-strand break repair via nonhomologous end joining; TAS:Reactome.
# GO_processGO:0006511ubiquitin-dependent protein catabolic process; IDA:UniProtKB.
# GO_processGO:0006974cellular response to DNA damage stimulus; IDA:UniProtKB.
# GO_processGO:0010212response to ionizing radiation; IDA:UniProtKB.
# GO_processGO:0016567protein ubiquitination; IDA:UniProtKB.
# GO_processGO:0016925protein sumoylation; TAS:Reactome.
# GO_processGO:0034244negative regulation of transcription elongation from RNA polymerase II promoter; IMP:UniProtKB.
# GO_processGO:0035518histone H2A monoubiquitination; IDA:UniProtKB.
# GO_processGO:0036297interstrand cross-link repair; TAS:UniProtKB.
# GO_processGO:0036351histone H2A-K13 ubiquitination; IDA:UniProtKB.
# GO_processGO:0036352histone H2A-K15 ubiquitination; IDA:UniProtKB.
# GO_processGO:0045190isotype switching; ISS:UniProtKB.
# GO_processGO:0045739positive regulation of DNA repair; IDA:UniProtKB.
# GO_processGO:0070534protein K63-linked ubiquitination; IDA:UniProtKB.
# GO_processGO:0070535histone H2A K63-linked ubiquitination; IDA:UniProtKB.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005634nucleus
# GOslim_componentGO:0005654nucleoplasm
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0043234protein complex
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0016874ligase activity
# GOslim_functionGO:0032182ubiquitin-like protein binding
# GOslim_functionGO:0042393histone binding
# GOslim_functionGO:0043167ion binding
# GOslim_processGO:0002376immune system process
# GOslim_processGO:0006259DNA metabolic process
# GOslim_processGO:0006464cellular protein modification process
# GOslim_processGO:0006950response to stress
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0009056catabolic process
# Gene3D3.30.40.10-; 1.
# GenevisibleQ8IYW5HS
# HAMAPMF_03066RNF168
# HGNCHGNC:26661RNF168
# INTERACTIONRN168_HUMANP61088 UBE2N; NbExp=2; IntAct=EBI-914207, EBI-1052908;
# IntActQ8IYW520
# InterProIPR001841Znf_RING
# InterProIPR013083Znf_RING/FYVE/PHD
# KEGG_DiseaseH00962[Primary immunodeficiency; Congenital disorder of DNA repair systems] RIDDLE syndrome
# MIM611943phenotype
# MIM612688gene
# OrganismRN168_HUMANHomo sapiens (Human)
# PATHWAYProtein modification; protein ubiquitination. {ECO:0000255|HAMAP-RuleMF_03066}.
# PDB3L11X-ray; 2.12 A; A=1-113
# PDB4GB0X-ray; 2.60 A; A=1-111
# PROSITEPS50089ZF_RING_2
# PTMRN168_HUMANSumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs). {ECO 0000255|HAMAP-Rule MF_03066, ECO 0000269|PubMed 22508508}.
# PTMRN168_HUMANUbiquitinated. {ECO 0000255|HAMAP-Rule MF_03066, ECO 0000269|PubMed 19500350, ECO 0000269|PubMed 21041483}.
# ProteomesUP000005640Chromosome 3
# ReactomeR-HSA-3108214SUMOylation of DNA damage response and repair proteins
# ReactomeR-HSA-5693565Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
# ReactomeR-HSA-5693571Nonhomologous End-Joining (NHEJ)
# ReactomeR-HSA-5693607Processing of DNA double-strand break ends
# ReactomeR-HSA-69473G2/M DNA damage checkpoint
# RecNameE3 ubiquitin-protein ligase RNF168 {ECO:0000255|HAMAP-RuleMF_03066}
# RefSeqNP_689830NM_152617.3
# SEQUENCE CAUTIONSequence=BAC04060.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO0000305};
# SIMILARITYBelongs to the RNF168 family. {ECO:0000255|HAMAP- RuleMF_03066}.
# SIMILARITYContains 1 RING-type zinc finger. {ECO:0000255|HAMAP- RuleMF_03066}.
# SMARTSM00184RING
# SUBCELLULAR LOCATIONRN168_HUMANNucleus {ECO 0000255|HAMAP-Rule MF_03066, ECO 0000269|PubMed 19203578, ECO 0000269|PubMed 19203579, ECO 0000269|PubMed 19500350, ECO 0000269|PubMed 21041483, ECO 0000269|PubMed 22742833}. Note=Localizes to double-strand breaks (DSBs) sites of DNA damage. {ECO 0000255|HAMAP- Rule MF_03066}.
# SUBUNITRN168_HUMANMonomer. Interacts with UBE2N/UBC13. {ECO 0000255|HAMAP- Rule MF_03066, ECO 0000269|PubMed 19203578, ECO 0000269|PubMed 22589545}.
# UCSCuc003fwqhuman
# eggNOGCOG2802LUCA
# eggNOGKOG4159Eukaryota
BLASTswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:RN168_HUMAN
COXPRESdb165918http://coxpresdb.jp/data/gene/165918.shtml
CleanExHS_RNF168http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_RNF168
DIPDIP-37451Nhttp://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-37451N
DOI10.1016/j.cell.2008.12.041http://dx.doi.org/10.1016/j.cell.2008.12.041
DOI10.1016/j.cell.2008.12.042http://dx.doi.org/10.1016/j.cell.2008.12.042
DOI10.1016/j.cell.2010.04.038http://dx.doi.org/10.1016/j.cell.2010.04.038
DOI10.1016/j.cell.2012.08.005http://dx.doi.org/10.1016/j.cell.2012.08.005
DOI10.1016/j.molcel.2012.05.026http://dx.doi.org/10.1016/j.molcel.2012.05.026
DOI10.1016/j.molcel.2012.05.045http://dx.doi.org/10.1016/j.molcel.2012.05.045
DOI10.1021/pr300630khttp://dx.doi.org/10.1021/pr300630k
DOI10.1038/emboj.2012.47http://dx.doi.org/10.1038/emboj.2012.47
DOI10.1038/nature04728http://dx.doi.org/10.1038/nature04728
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1073/pnas.0805139105http://dx.doi.org/10.1073/pnas.0805139105
DOI10.1074/jbc.M112.359653http://dx.doi.org/10.1074/jbc.M112.359653
DOI10.1083/jcb.201106152http://dx.doi.org/10.1083/jcb.201106152
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1126/scisignal.2000007http://dx.doi.org/10.1126/scisignal.2000007
DOI10.1128/MCB.00818-10http://dx.doi.org/10.1128/MCB.00818-10
DOI10.1186/1471-2199-10-55http://dx.doi.org/10.1186/1471-2199-10-55
DOI10.4161/cc.20919http://dx.doi.org/10.4161/cc.20919
EC_numberEC:6.3.2.- {ECO:0000255|HAMAP-Rule:MF_03066}http://www.genome.jp/dbget-bin/www_bget?EC:6.3.2.- {ECO:0000255|HAMAP-Rule:MF_03066}
EMBLAC092933http://www.ebi.ac.uk/ena/data/view/AC092933
EMBLAC117490http://www.ebi.ac.uk/ena/data/view/AC117490
EMBLAK054732http://www.ebi.ac.uk/ena/data/view/AK054732
EMBLAK093113http://www.ebi.ac.uk/ena/data/view/AK093113
EMBLBC033791http://www.ebi.ac.uk/ena/data/view/BC033791
ENZYME6.3.2.- {ECO:0000255|HAMAP-Rule:MF_03066}http://enzyme.expasy.org/EC/6.3.2.- {ECO:0000255|HAMAP-Rule:MF_03066}
EnsemblENST00000318037http://www.ensembl.org/id/ENST00000318037
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0000151http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000151
GO_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GO_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0035861http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035861
GO_componentGO:0043234http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234
GO_functionGO:0003682http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003682
GO_functionGO:0004842http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004842
GO_functionGO:0008270http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008270
GO_functionGO:0016874http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016874
GO_functionGO:0031491http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031491
GO_functionGO:0042393http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042393
GO_functionGO:0043130http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043130
GO_functionGO:0070530http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070530
GO_processGO:0006302http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006302
GO_processGO:0006303http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006303
GO_processGO:0006511http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006511
GO_processGO:0006974http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006974
GO_processGO:0010212http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010212
GO_processGO:0016567http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016567
GO_processGO:0016925http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016925
GO_processGO:0034244http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034244
GO_processGO:0035518http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035518
GO_processGO:0036297http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036297
GO_processGO:0036351http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036351
GO_processGO:0036352http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0036352
GO_processGO:0045190http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045190
GO_processGO:0045739http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045739
GO_processGO:0070534http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070534
GO_processGO:0070535http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070535
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GOslim_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0043234http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0016874http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016874
GOslim_functionGO:0032182http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032182
GOslim_functionGO:0042393http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042393
GOslim_functionGO:0043167http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167
GOslim_processGO:0002376http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0002376
GOslim_processGO:0006259http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259
GOslim_processGO:0006464http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464
GOslim_processGO:0006950http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0009056http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009056
Gene3D3.30.40.10http://www.cathdb.info/version/latest/superfamily/3.30.40.10
GeneCardsRNF168http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=RNF168
GeneID165918http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=165918
GeneTreeENSGT00730000111120http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00730000111120
HAMAPMF_03066http://hamap.expasy.org/unirule/MF_03066
HGNCHGNC:26661http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:26661
HOGENOMHOG000154156http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000154156&db=HOGENOM6
HOVERGENHBG067220http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG067220&db=HOVERGEN
HPAHPA046109http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA046109
InParanoidQ8IYW5http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q8IYW5
IntActQ8IYW5http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q8IYW5*
IntEnz6.3.2.- {ECO:0000255|HAMAP-Rule:MF_03066}http://www.ebi.ac.uk/intenz/query?cmd=Search&q=6.3.2.- {ECO:0000255|HAMAP-Rule:MF_03066}
InterProIPR001841http://www.ebi.ac.uk/interpro/entry/IPR001841
InterProIPR013083http://www.ebi.ac.uk/interpro/entry/IPR013083
Jabion165918http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=165918
KEGG_DiseaseH00962http://www.genome.jp/dbget-bin/www_bget?H00962
KEGG_Genehsa:165918http://www.genome.jp/dbget-bin/www_bget?hsa:165918
MIM611943http://www.ncbi.nlm.nih.gov/omim/611943
MIM612688http://www.ncbi.nlm.nih.gov/omim/612688
MINTMINT-1180501http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-1180501
OMAHKQEEQDhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=HKQEEQD
OrthoDBEOG091G0FWXhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G0FWX
PDB3L11http://www.ebi.ac.uk/pdbe-srv/view/entry/3L11
PDB4GB0http://www.ebi.ac.uk/pdbe-srv/view/entry/4GB0
PDBsum3L11http://www.ebi.ac.uk/pdbsum/3L11
PDBsum4GB0http://www.ebi.ac.uk/pdbsum/4GB0
PROSITEPS50089http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50089
PSORT-Bswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:RN168_HUMAN
PSORT2swissprot:RN168_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:RN168_HUMAN
PSORTswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:RN168_HUMAN
PharmGKBPA134945219http://www.pharmgkb.org/do/serve?objId=PA134945219&objCls=Gene
Phobiusswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:RN168_HUMAN
PhylomeDBQ8IYW5http://phylomedb.org/?seqid=Q8IYW5
ProteinModelPortalQ8IYW5http://www.proteinmodelportal.org/query/uniprot/Q8IYW5
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed16641997http://www.ncbi.nlm.nih.gov/pubmed/16641997
PubMed18669648http://www.ncbi.nlm.nih.gov/pubmed/18669648
PubMed19203578http://www.ncbi.nlm.nih.gov/pubmed/19203578
PubMed19203579http://www.ncbi.nlm.nih.gov/pubmed/19203579
PubMed19500350http://www.ncbi.nlm.nih.gov/pubmed/19500350
PubMed19690332http://www.ncbi.nlm.nih.gov/pubmed/19690332
PubMed20550933http://www.ncbi.nlm.nih.gov/pubmed/20550933
PubMed21041483http://www.ncbi.nlm.nih.gov/pubmed/21041483
PubMed22373579http://www.ncbi.nlm.nih.gov/pubmed/22373579
PubMed22508508http://www.ncbi.nlm.nih.gov/pubmed/22508508
PubMed22589545http://www.ncbi.nlm.nih.gov/pubmed/22589545
PubMed22705371http://www.ncbi.nlm.nih.gov/pubmed/22705371
PubMed22713238http://www.ncbi.nlm.nih.gov/pubmed/22713238
PubMed22742833http://www.ncbi.nlm.nih.gov/pubmed/22742833
PubMed22980979http://www.ncbi.nlm.nih.gov/pubmed/22980979
PubMed23186163http://www.ncbi.nlm.nih.gov/pubmed/23186163
ReactomeR-HSA-3108214http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3108214
ReactomeR-HSA-5693565http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5693565
ReactomeR-HSA-5693571http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5693571
ReactomeR-HSA-5693607http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5693607
ReactomeR-HSA-69473http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-69473
RefSeqNP_689830http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_689830
SMARTSM00184http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00184
SMRQ8IYW5http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q8IYW5
STRING9606.ENSP00000320898http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000320898&targetmode=cogs
UCSCuc003fwqhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003fwq&org=rat
UniGeneHs.250648http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.250648
UniProtKB-ACQ8IYW5http://www.uniprot.org/uniprot/Q8IYW5
UniProtKBRN168_HUMANhttp://www.uniprot.org/uniprot/RN168_HUMAN
chargeswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:RN168_HUMAN
eggNOGCOG2802http://eggnogapi.embl.de/nog_data/html/tree/COG2802
eggNOGKOG4159http://eggnogapi.embl.de/nog_data/html/tree/KOG4159
epestfindswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:RN168_HUMAN
garnierswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:RN168_HUMAN
helixturnhelixswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:RN168_HUMAN
hmomentswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:RN168_HUMAN
iepswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:RN168_HUMAN
inforesidueswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:RN168_HUMAN
neXtProtNX_Q8IYW5http://www.nextprot.org/db/entry/NX_Q8IYW5
octanolswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:RN168_HUMAN
pepcoilswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:RN168_HUMAN
pepdigestswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:RN168_HUMAN
pepinfoswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:RN168_HUMAN
pepnetswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:RN168_HUMAN
pepstatsswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:RN168_HUMAN
pepwheelswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:RN168_HUMAN
pepwindowswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:RN168_HUMAN
sigcleaveswissprot:RN168_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:RN168_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSTFR2_HUMANEvent=Alternative splicing; Named isoforms=3; Name=Alpha; IsoId=Q9UP52-1; Sequence=Displayed; Name=Beta; IsoId=Q9UP52-2; Sequence=VSP_005354; Name=Gamma; IsoId=Q9UP52-3; Sequence=VSP_005355;
# BioGrid11289410
# CCDSCCDS34707-. [Q9UP52-1]
# DISEASETFR2_HUMANHemochromatosis 3 (HFE3) [MIM 604250] A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO 0000269|PubMed 11313241, ECO 0000269|PubMed 12130528, ECO 0000269|PubMed 14633868}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DrugBankDB05260Gallium nitrate
# EnsemblENST00000223051ENSP00000223051; ENSG00000106327. [Q9UP52-1]
# EnsemblENST00000462107ENSP00000420525; ENSG00000106327. [Q9UP52-1]
# ExpressionAtlasQ9UP52baseline and differential
# FUNCTIONTFR2_HUMANMediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.
# GO_componentGO:0005887integral component of plasma membrane; NAS:UniProtKB.
# GO_componentGO:0009897external side of plasma membrane; IGI:BHF-UCL.
# GO_componentGO:0031410cytoplasmic vesicle; IDA:BHF-UCL.
# GO_componentGO:1990712HFE-transferrin receptor complex; IDA:BHF-UCL.
# GO_functionGO:0001948glycoprotein binding; IPI:BHF-UCL.
# GO_functionGO:0004998transferrin receptor activity; NAS:UniProtKB.
# GO_functionGO:0039706co-receptor binding; IPI:BHF-UCL.
# GO_processGO:0006826iron ion transport; NAS:UniProtKB.
# GO_processGO:0006879cellular iron ion homeostasis; TAS:UniProtKB.
# GO_processGO:0006898receptor-mediated endocytosis; IGI:BHF-UCL.
# GO_processGO:0006953acute-phase response; IEA:Ensembl.
# GO_processGO:0010039response to iron ion; IMP:BHF-UCL.
# GO_processGO:0033572transferrin transport; IGI:BHF-UCL.
# GO_processGO:0045807positive regulation of endocytosis; IGI:BHF-UCL.
# GO_processGO:0045944positive regulation of transcription from RNA polymerase II promoter; IGI:BHF-UCL.
# GO_processGO:0055072iron ion homeostasis; IMP:BHF-UCL.
# GO_processGO:0071281cellular response to iron ion; IGI:BHF-UCL.
# GO_processGO:0090277positive regulation of peptide hormone secretion; IMP:BHF-UCL.
# GO_processGO:0097460ferrous iron import into cell; IGI:BHF-UCL.
# GO_processGO:1903319positive regulation of protein maturation; IGI:BHF-UCL.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0031410cytoplasmic vesicle
# GOslim_functionGO:0003674molecular_function
# GOslim_processGO:0006810transport
# GOslim_processGO:0006950response to stress
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0016192vesicle-mediated transport
# GOslim_processGO:0042592homeostatic process
# Gene3D1.20.930.40-; 1.
# GenevisibleQ9UP52HS
# HGNCHGNC:11762TFR2
# InterProIPR003137PA_domain
# InterProIPR007365TFR-like_dimer_dom
# InterProIPR007484Peptidase_M28
# KEGG_DiseaseH00211[Inherited metabolic disease] Juvenile hemochromatosis (JH)
# MIM604250phenotype
# MIM604720gene
# MISCELLANEOUSTFR2_HUMANThe variant Lys-172 found in hereditary hemochromatosis type III affects the putative initiation codon of the beta isoform thus preventing its translation.
# OrganismTFR2_HUMANHomo sapiens (Human)
# Orphanet225123Hemochromatosis type 3
# PfamPF02225PA
# PfamPF04389Peptidase_M28
# ProteomesUP000005640Chromosome 7
# RecNameTFR2_HUMANTransferrin receptor protein 2
# RefSeqNP_001193784NM_001206855.1. [Q9UP52-2]
# RefSeqNP_003218NM_003227.3. [Q9UP52-1]
# RefSeqXP_005250610XM_005250553.4. [Q9UP52-1]
# RefSeqXP_016868062XM_017012573.1. [Q9UP52-1]
# SEQUENCE CAUTIONSequence=BAA91153.1; Type=Erroneous initiation; Evidence={ECO0000305};
# SIMILARITYBelongs to the peptidase M28 family. M28B subfamily. {ECO0000305}.
# SUBCELLULAR LOCATIONTFR2_HUMANCell membrane; Single-pass type II membrane protein.
# SUBCELLULAR LOCATIONTFR2_HUMANIsoform Beta Cytoplasm {ECO 0000305}. Note=Lacks the transmembrane domain. Probably intracellular.
# SUBUNITTFR2_HUMANHomodimer.
# SUPFAMSSF47672SSF47672
# TISSUE SPECIFICITYTFR2_HUMANPredominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.
# UCSCuc003uvvhuman. [Q9UP52-1]
# eggNOGCOG2234LUCA
# eggNOGKOG2195Eukaryota
BLASTswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:TFR2_HUMAN
BioCycZFISH:ENSG00000106327-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000106327-MONOMER
COXPRESdb7036http://coxpresdb.jp/data/gene/7036.shtml
CleanExHS_TFR2http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TFR2
DOI10.1016/j.jprot.2013.11.014http://dx.doi.org/10.1016/j.jprot.2013.11.014
DOI10.1021/pr8008012http://dx.doi.org/10.1021/pr8008012
DOI10.1038/75534http://dx.doi.org/10.1038/75534
DOI10.1038/nature01782http://dx.doi.org/10.1038/nature01782
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1074/jbc.274.30.20826http://dx.doi.org/10.1074/jbc.274.30.20826
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1182/blood-2002-01-0133http://dx.doi.org/10.1182/blood-2002-01-0133
DOI10.1182/blood-2002-04-1077http://dx.doi.org/10.1182/blood-2002-04-1077
DOI10.1182/blood.V97.9.2555http://dx.doi.org/10.1182/blood.V97.9.2555
DOI10.1373/clinchem.2003.023440http://dx.doi.org/10.1373/clinchem.2003.023440
DrugBankDB05260http://www.drugbank.ca/drugs/DB05260
EMBLAC099394http://www.ebi.ac.uk/ena/data/view/AC099394
EMBLAF053356http://www.ebi.ac.uk/ena/data/view/AF053356
EMBLAF067864http://www.ebi.ac.uk/ena/data/view/AF067864
EMBLAK000421http://www.ebi.ac.uk/ena/data/view/AK000421
EMBLAK022002http://www.ebi.ac.uk/ena/data/view/AK022002
EMBLBC142630http://www.ebi.ac.uk/ena/data/view/BC142630
EMBLDQ496110http://www.ebi.ac.uk/ena/data/view/DQ496110
EnsemblENST00000223051http://www.ensembl.org/id/ENST00000223051
EnsemblENST00000462107http://www.ensembl.org/id/ENST00000462107
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005887http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005887
GO_componentGO:0009897http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009897
GO_componentGO:0031410http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410
GO_componentGO:1990712http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1990712
GO_functionGO:0001948http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001948
GO_functionGO:0004998http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004998
GO_functionGO:0039706http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0039706
GO_processGO:0006826http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006826
GO_processGO:0006879http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006879
GO_processGO:0006898http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006898
GO_processGO:0006953http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006953
GO_processGO:0010039http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0010039
GO_processGO:0033572http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0033572
GO_processGO:0045807http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045807
GO_processGO:0045944http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045944
GO_processGO:0055072http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0055072
GO_processGO:0071281http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071281
GO_processGO:0090277http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090277
GO_processGO:0097460http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097460
GO_processGO:1903319http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1903319
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0031410http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031410
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_processGO:0006810http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006810
GOslim_processGO:0006950http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0016192http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016192
GOslim_processGO:0042592http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042592
Gene3D1.20.930.40http://www.cathdb.info/version/latest/superfamily/1.20.930.40
GeneCardsTFR2http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TFR2
GeneID7036http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7036
GeneTreeENSGT00550000074421http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00550000074421
HGNCHGNC:11762http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11762
HOGENOMHOG000124067http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000124067&db=HOGENOM6
HOVERGENHBG023177http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG023177&db=HOVERGEN
HPACAB016255http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB016255
HPAHPA011937http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA011937
InParanoidQ9UP52http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q9UP52
IntActQ9UP52http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9UP52*
InterProIPR003137http://www.ebi.ac.uk/interpro/entry/IPR003137
InterProIPR007365http://www.ebi.ac.uk/interpro/entry/IPR007365
InterProIPR007484http://www.ebi.ac.uk/interpro/entry/IPR007484
Jabion7036http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7036
KEGG_DiseaseH00211http://www.genome.jp/dbget-bin/www_bget?H00211
KEGG_Genehsa:7036http://www.genome.jp/dbget-bin/www_bget?hsa:7036
MIM604250http://www.ncbi.nlm.nih.gov/omim/604250
MIM604720http://www.ncbi.nlm.nih.gov/omim/604720
OMALFISWDGhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=LFISWDG
Orphanet225123http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=225123
OrthoDBEOG091G02ZMhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G02ZM
PSORT-Bswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:TFR2_HUMAN
PSORT2swissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:TFR2_HUMAN
PSORTswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:TFR2_HUMAN
PfamPF02225http://pfam.xfam.org/family/PF02225
PfamPF04389http://pfam.xfam.org/family/PF04389
PharmGKBPA36477http://www.pharmgkb.org/do/serve?objId=PA36477&objCls=Gene
Phobiusswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:TFR2_HUMAN
PhylomeDBQ9UP52http://phylomedb.org/?seqid=Q9UP52
ProteinModelPortalQ9UP52http://www.proteinmodelportal.org/query/uniprot/Q9UP52
PubMed10409623http://www.ncbi.nlm.nih.gov/pubmed/10409623
PubMed10802645http://www.ncbi.nlm.nih.gov/pubmed/10802645
PubMed11313241http://www.ncbi.nlm.nih.gov/pubmed/11313241
PubMed12130528http://www.ncbi.nlm.nih.gov/pubmed/12130528
PubMed12150153http://www.ncbi.nlm.nih.gov/pubmed/12150153
PubMed12853948http://www.ncbi.nlm.nih.gov/pubmed/12853948
PubMed14633868http://www.ncbi.nlm.nih.gov/pubmed/14633868
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed19159218http://www.ncbi.nlm.nih.gov/pubmed/19159218
PubMed24275569http://www.ncbi.nlm.nih.gov/pubmed/24275569
PubMed9799793http://www.ncbi.nlm.nih.gov/pubmed/9799793
RefSeqNP_001193784http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001193784
RefSeqNP_003218http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003218
RefSeqXP_005250610http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_005250610
RefSeqXP_016868062http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=XP_016868062
STRING9606.ENSP00000223051http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000223051&targetmode=cogs
SUPFAMSSF47672http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF47672
UCSCuc003uvvhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc003uvv&org=rat
UniGeneHs.544932http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.544932
UniProtKB-ACQ9UP52http://www.uniprot.org/uniprot/Q9UP52
UniProtKBTFR2_HUMANhttp://www.uniprot.org/uniprot/TFR2_HUMAN
chargeswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:TFR2_HUMAN
eggNOGCOG2234http://eggnogapi.embl.de/nog_data/html/tree/COG2234
eggNOGKOG2195http://eggnogapi.embl.de/nog_data/html/tree/KOG2195
epestfindswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:TFR2_HUMAN
garnierswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:TFR2_HUMAN
helixturnhelixswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:TFR2_HUMAN
hmomentswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:TFR2_HUMAN
iepswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:TFR2_HUMAN
inforesidueswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:TFR2_HUMAN
neXtProtNX_Q9UP52http://www.nextprot.org/db/entry/NX_Q9UP52
octanolswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:TFR2_HUMAN
pepcoilswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:TFR2_HUMAN
pepdigestswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:TFR2_HUMAN
pepinfoswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:TFR2_HUMAN
pepnetswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:TFR2_HUMAN
pepstatsswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:TFR2_HUMAN
pepwheelswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:TFR2_HUMAN
pepwindowswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:TFR2_HUMAN
sigcleaveswissprot:TFR2_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:TFR2_HUMAN
DataBaseIDURL or Descriptions
# AltNameBCDO1_HUMANBeta-carotene dioxygenase 1
# AltNameBeta-carotene oxygenase 1 {ECO:0000312|HGNCHGNC:13815}
# BRENDA1.14.99.362681
# CATALYTIC ACTIVITYBeta-carotene + O(2) = 2 all-trans-retinal. {ECO:0000269|PubMed24668807}.
# COFACTORBCDO1_HUMANName=Fe(2+); Xref=ChEBI CHEBI 29033; Evidence={ECO 0000250}; Note=Binds 1 Fe(2+) ion per subunit. {ECO 0000250};
# ChiTaRSBCMO1human
# DISEASEBCDO1_HUMANHypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD) [MIM 115300] A disorder characterized by increased serum beta-carotene, decreased conversion of beta- carotene to vitamin A and decreased serum vitamin A. {ECO 0000269|PubMed 17951468}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# EnsemblENST00000258168ENSP00000258168; ENSG00000135697
# ExpressionAtlasQ9HAY6baseline and differential
# FUNCTIONBCDO1_HUMANSymmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism. {ECO 0000269|PubMed 24668807}.
# GO_componentGO:0005829cytosol; TAS:Reactome.
# GO_functionGO:0003834beta-carotene 15,15'-monooxygenase activity; IDA:UniProtKB.
# GO_functionGO:0046872metal ion binding; IEA:UniProtKB-KW.
# GO_processGO:0001523retinoid metabolic process; IDA:UniProtKB.
# GO_processGO:0035238vitamin A biosynthetic process; NAS:BHF-UCL.
# GO_processGO:0042572retinol metabolic process; IEA:UniProtKB-UniPathway.
# GO_processGO:0042574retinal metabolic process; NAS:BHF-UCL.
# GO_processGO:1901810beta-carotene metabolic process; IEA:Ensembl.
# GOslim_componentGO:0005829cytosol
# GOslim_functionGO:0016491oxidoreductase activity
# GOslim_functionGO:0043167ion binding
# GOslim_processGO:0006629lipid metabolic process
# GOslim_processGO:0009058biosynthetic process
# GOslim_processGO:0044281small molecule metabolic process
# GenevisibleQ9HAY6HS
# HGNCHGNC:13815BCO1
# InterProIPR004294Carotenoid_Oase
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko01000 Enzymes
# KEGG_DiseaseH01266[Inherited metabolic disease] Hypercarotenemia and vitamin A deficiency
# KEGG_Pathwayko00830Retinol metabolism
# MIM115300phenotype
# MIM605748gene
# OrganismBCDO1_HUMANHomo sapiens (Human)
# Orphanet199285Hereditary hypercarotenemia and vitamin A deficiency
# PANTHERPTHR10543PTHR10543; 2
# PATHWAYBCDO1_HUMANCofactor metabolism; retinol metabolism.
# PfamPF03055RPE65
# ProteomesUP000005640Chromosome 16
# ReactomeR-HSA-975634Retinoid metabolism and transport
# RecNameBCDO1_HUMANBeta,beta-carotene 15,15'-dioxygenase
# RefSeqNP_059125NM_017429.2
# SIMILARITYBelongs to the carotenoid oxygenase family. {ECO0000305}.
# TISSUE SPECIFICITYHighly expressed in retinal pigment epithelium. Also expressed in kidney, testis, liver, brain, small intestine and colon. {ECO:0000269|PubMed11401432}.
# UCSCuc002fgnhuman
# eggNOGCOG3670LUCA
# eggNOGKOG1285Eukaryota
BLASTswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:BCDO1_HUMAN
BioCycMetaCyc:HS06050-MONOMERhttp://biocyc.org/getid?id=MetaCyc:HS06050-MONOMER
BioCycZFISH:HS06050-MONOMERhttp://biocyc.org/getid?id=ZFISH:HS06050-MONOMER
COXPRESdb53630http://coxpresdb.jp/data/gene/53630.shtml
CleanExHS_BCMO1http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_BCMO1
DOI10.1006/geno.2000.6476http://dx.doi.org/10.1006/geno.2000.6476
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1074/jbc.M114.557710http://dx.doi.org/10.1074/jbc.M114.557710
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
EC_numberEC:1.13.11.63 {ECO:0000269|PubMed:24668807}http://www.genome.jp/dbget-bin/www_bget?EC:1.13.11.63 {ECO:0000269|PubMed:24668807}
EMBLAF294900http://www.ebi.ac.uk/ena/data/view/AF294900
EMBLAK001592http://www.ebi.ac.uk/ena/data/view/AK001592
EMBLBC126210http://www.ebi.ac.uk/ena/data/view/BC126210
EMBLBC126212http://www.ebi.ac.uk/ena/data/view/BC126212
EMBLCH471114http://www.ebi.ac.uk/ena/data/view/CH471114
ENZYME1.13.11.63 {ECO:0000269|PubMed:24668807}http://enzyme.expasy.org/EC/1.13.11.63 {ECO:0000269|PubMed:24668807}
EnsemblENST00000258168http://www.ensembl.org/id/ENST00000258168
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GO_functionGO:0003834http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003834
GO_functionGO:0046872http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0046872
GO_processGO:0001523http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001523
GO_processGO:0035238http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0035238
GO_processGO:0042572http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042572
GO_processGO:0042574http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042574
GO_processGO:1901810http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901810
GOslim_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GOslim_functionGO:0016491http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016491
GOslim_functionGO:0043167http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043167
GOslim_processGO:0006629http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006629
GOslim_processGO:0009058http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0009058
GOslim_processGO:0044281http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044281
GeneCardsBCO1http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=BCO1
GeneID53630http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=53630
GeneTreeENSGT00500000044783http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00500000044783
HGNCHGNC:13815http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:13815
HOGENOMHOG000232156http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000232156&db=HOGENOM6
HOVERGENHBG050679http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG050679&db=HOVERGEN
HPAHPA043811http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA043811
IntActQ9HAY6http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q9HAY6*
IntEnz1.13.11.63 {ECO:0000269|PubMed:24668807}http://www.ebi.ac.uk/intenz/query?cmd=Search&q=1.13.11.63 {ECO:0000269|PubMed:24668807}
InterProIPR004294http://www.ebi.ac.uk/interpro/entry/IPR004294
Jabion53630http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=53630
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko01000http://www.genome.jp/dbget-bin/www_bget?ko01000
KEGG_DiseaseH01266http://www.genome.jp/dbget-bin/www_bget?H01266
KEGG_Genehsa:53630http://www.genome.jp/dbget-bin/www_bget?hsa:53630
KEGG_OrthologyKO:K00515http://www.genome.jp/dbget-bin/www_bget?KO:K00515
KEGG_Pathwayko00830http://www.genome.jp/kegg-bin/show_pathway?ko00830
KEGG_Reactionrn:R00032http://www.genome.jp/dbget-bin/www_bget?rn:R00032
KEGG_Reactionrn:R10083http://www.genome.jp/dbget-bin/www_bget?rn:R10083
KEGG_Reactionrn:R10084http://www.genome.jp/dbget-bin/www_bget?rn:R10084
KEGG_Reactionrn:R10085http://www.genome.jp/dbget-bin/www_bget?rn:R10085
MIM115300http://www.ncbi.nlm.nih.gov/omim/115300
MIM605748http://www.ncbi.nlm.nih.gov/omim/605748
OMAEDKTHIHhttp://omabrowser.org/cgi-bin/gateway.pl?f=DisplayGroup&p1=EDKTHIH
Orphanet199285http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=199285
OrthoDBEOG091G04WWhttp://cegg.unige.ch/orthodb/results?searchtext=EOG091G04WW
PANTHERPTHR10543http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10543
PSORT-Bswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:BCDO1_HUMAN
PSORT2swissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:BCDO1_HUMAN
PSORTswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:BCDO1_HUMAN
PfamPF03055http://pfam.xfam.org/family/PF03055
PharmGKBPA37812http://www.pharmgkb.org/do/serve?objId=PA37812&objCls=Gene
Phobiusswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:BCDO1_HUMAN
PhylomeDBQ9HAY6http://phylomedb.org/?seqid=Q9HAY6
ProteinModelPortalQ9HAY6http://www.proteinmodelportal.org/query/uniprot/Q9HAY6
PubMed11401432http://www.ncbi.nlm.nih.gov/pubmed/11401432
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed17951468http://www.ncbi.nlm.nih.gov/pubmed/17951468
PubMed24668807http://www.ncbi.nlm.nih.gov/pubmed/24668807
ReactomeR-HSA-975634http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-975634
RefSeqNP_059125http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_059125
SMRQ9HAY6http://swissmodel.expasy.org/repository/smr.php?sptr_ac=Q9HAY6
STRING9606.ENSP00000258168http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000258168&targetmode=cogs
UCSCuc002fgnhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002fgn&org=rat
UniGeneHs.212172http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.212172
UniProtKB-ACQ9HAY6http://www.uniprot.org/uniprot/Q9HAY6
UniProtKBBCDO1_HUMANhttp://www.uniprot.org/uniprot/BCDO1_HUMAN
chargeswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:BCDO1_HUMAN
eggNOGCOG3670http://eggnogapi.embl.de/nog_data/html/tree/COG3670
eggNOGKOG1285http://eggnogapi.embl.de/nog_data/html/tree/KOG1285
epestfindswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:BCDO1_HUMAN
garnierswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:BCDO1_HUMAN
helixturnhelixswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:BCDO1_HUMAN
hmomentswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:BCDO1_HUMAN
iepswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:BCDO1_HUMAN
inforesidueswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:BCDO1_HUMAN
neXtProtNX_Q9HAY6http://www.nextprot.org/db/entry/NX_Q9HAY6
octanolswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:BCDO1_HUMAN
pepcoilswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:BCDO1_HUMAN
pepdigestswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:BCDO1_HUMAN
pepinfoswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:BCDO1_HUMAN
pepnetswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:BCDO1_HUMAN
pepstatsswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:BCDO1_HUMAN
pepwheelswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:BCDO1_HUMAN
pepwindowswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:BCDO1_HUMAN
sigcleaveswissprot:BCDO1_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:BCDO1_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSSUMO1_HUMANEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P63165-1; Sequence=Displayed; Name=2; IsoId=P63165-2; Sequence=VSP_046756; Note=No experimental confirmation available. Gene prediction based on EST data.;
# AltNameSUMO1_HUMANGAP-modifying protein 1
# AltNameSUMO1_HUMANSMT3 homolog 3
# AltNameSUMO1_HUMANSentrin
# AltNameSUMO1_HUMANUbiquitin-homology domain protein PIC1
# AltNameSUMO1_HUMANUbiquitin-like protein SMT3C
# AltNameSUMO1_HUMANUbiquitin-like protein UBL1
# BioGrid113188167
# CCDSCCDS2352-. [P63165-1]
# CCDSCCDS46493-. [P63165-2]
# CDDcd01763Sumo
# DISEASESUMO1_HUMANNon-syndromic orofacial cleft 10 (OFC10) [MIM 613705] A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO 0000269|PubMed 16990542}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving SUMO1 is the cause of OFC10. Translocation t(2;8)(q33.1;q24.3). The breakpoint occurred in the SUMO1 gene and resulted in haploinsufficiency confirmed by protein assays.
# EnsemblENST00000392244ENSP00000376075; ENSG00000116030. [P63165-2]
# EnsemblENST00000392245ENSP00000376076; ENSG00000116030. [P63165-1]
# EnsemblENST00000392246ENSP00000376077; ENSG00000116030. [P63165-1]
# ExpressionAtlasP63165baseline and differential
# FUNCTIONSUMO1_HUMANUbiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for instance in targeting RANGAP1 to the nuclear pore complex protein RANBP2. Covalently attached to the voltage-gated potassium channel KCNB1; this modulates the gating characteristics of KCNB1 (PubMed 19223394). Polymeric SUMO1 chains are also susceptible to polyubiquitination which functions as a signal for proteasomal degradation of modified proteins. May also regulate a network of genes involved in palate development. Covalently attached to ZFHX3 (PubMed 24651376). {ECO 0000269|PubMed 18408734, ECO 0000269|PubMed 18538659, ECO 0000269|PubMed 19223394, ECO 0000269|PubMed 21965678, ECO 0000269|PubMed 24651376, ECO 0000269|PubMed 9019411, ECO 0000269|PubMed 9162015}.
# GO_componentGO:0000792heterochromatin; IEA:Ensembl.
# GO_componentGO:0001650fibrillar center; IEA:Ensembl.
# GO_componentGO:0001741XY body; IEA:Ensembl.
# GO_componentGO:0005634nucleus; IDA:UniProtKB.
# GO_componentGO:0005643nuclear pore; TAS:ProtInc.
# GO_componentGO:0005654nucleoplasm; TAS:Reactome.
# GO_componentGO:0005730nucleolus; IDA:HPA.
# GO_componentGO:0005737cytoplasm; IEA:UniProtKB-SubCell.
# GO_componentGO:0005886plasma membrane; IDA:UniProtKB.
# GO_componentGO:0016604nuclear body; IDA:UniProtKB.
# GO_componentGO:0016605PML body; IDA:UniProtKB.
# GO_componentGO:0016607nuclear speck; IEA:UniProtKB-SubCell.
# GO_componentGO:0030425dendrite; IEA:Ensembl.
# GO_componentGO:0031965nuclear membrane; IDA:HPA.
# GO_componentGO:0045202synapse; IEA:Ensembl.
# GO_componentGO:0097165nuclear stress granule; IDA:UniProtKB.
# GO_functionGO:0008134transcription factor binding; ISS:AgBase.
# GO_functionGO:0015459potassium channel regulator activity; IDA:UniProtKB.
# GO_functionGO:0031386protein tag; IBA:GO_Central.
# GO_functionGO:0031625ubiquitin protein ligase binding; IPI:UniProtKB.
# GO_functionGO:0044325ion channel binding; IPI:UniProtKB.
# GO_functionGO:0044822poly(A) RNA binding; IDA:UniProtKB.
# GO_processGO:0006281DNA repair; TAS:ProtInc.
# GO_processGO:0006303double-strand break repair via nonhomologous end joining; TAS:Reactome.
# GO_processGO:0016032viral process; IEA:UniProtKB-KW.
# GO_processGO:0016925protein sumoylation; IDA:UniProtKB.
# GO_processGO:0030578PML body organization; IEA:Ensembl.
# GO_processGO:0031334positive regulation of protein complex assembly; IDA:BHF-UCL.
# GO_processGO:0032436positive regulation of proteasomal ubiquitin-dependent protein catabolic process; IDA:UniProtKB.
# GO_processGO:0032880regulation of protein localization; TAS:UniProtKB.
# GO_processGO:0034605cellular response to heat; IDA:UniProtKB.
# GO_processGO:0043392negative regulation of DNA binding; IMP:UniProtKB.
# GO_processGO:0043433negative regulation of sequence-specific DNA binding transcription factor activity; IMP:UniProtKB.
# GO_processGO:0045759negative regulation of action potential; IDA:UniProtKB.
# GO_processGO:0045892negative regulation of transcription, DNA-templated; IDA:UniProtKB.
# GO_processGO:0050821protein stabilization; IDA:UniProtKB.
# GO_processGO:0060021palate development; ISS:UniProtKB.
# GO_processGO:0060334regulation of interferon-gamma-mediated signaling pathway; TAS:Reactome.
# GO_processGO:0070911global genome nucleotide-excision repair; TAS:Reactome.
# GO_processGO:0071276cellular response to cadmium ion; IDA:UniProtKB.
# GO_processGO:0086004regulation of cardiac muscle cell contraction; IEA:Ensembl.
# GO_processGO:0090204protein localization to nuclear pore; IEA:Ensembl.
# GO_processGO:1901896positive regulation of calcium-transporting ATPase activity; IEA:Ensembl.
# GO_processGO:1902260negative regulation of delayed rectifier potassium channel activity; IDA:UniProtKB.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005634nucleus
# GOslim_componentGO:0005654nucleoplasm
# GOslim_componentGO:0005694chromosome
# GOslim_componentGO:0005730nucleolus
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005886plasma membrane
# GOslim_componentGO:0043226organelle
# GOslim_componentGO:0043234protein complex
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0003723RNA binding
# GOslim_functionGO:0008134transcription factor binding
# GOslim_functionGO:0019899enzyme binding
# GOslim_processGO:0006259DNA metabolic process
# GOslim_processGO:0006464cellular protein modification process
# GOslim_processGO:0006950response to stress
# GOslim_processGO:0008150biological_process
# GOslim_processGO:0044403symbiosis, encompassing mutualism through parasitism
# GOslim_processGO:0048856anatomical structure development
# GenevisibleP63165HS
# HGNCHGNC:12502SUMO1
# INTERACTIONSUMO1_HUMANG2XKQ0 -; NbExp=3; IntAct=EBI-80140, EBI-10175576; Q59GP6 -; NbExp=3; IntAct=EBI-80140, EBI-10243413; P10275 AR; NbExp=7; IntAct=EBI-80140, EBI-608057; Q5BIX2 ARKL1; NbExp=3; IntAct=EBI-80140, EBI-10243491; P15336 ATF2; NbExp=3; IntAct=EBI-80140, EBI-1170906; Q9H257 CARD9; NbExp=3; IntAct=EBI-80140, EBI-751319; Q05D60 CCDC67; NbExp=3; IntAct=EBI-80140, EBI-748597; Q9UER7 DAXX; NbExp=7; IntAct=EBI-80140, EBI-77321; Q9UBC3 DNMT3B; NbExp=4; IntAct=EBI-80140, EBI-80125; Q86UW9 DTX2; NbExp=3; IntAct=EBI-80140, EBI-740376; Q8WWZ3 EDARADD; NbExp=5; IntAct=EBI-80140, EBI-2949647; P06730 EIF4E; NbExp=5; IntAct=EBI-80140, EBI-73440; P19419 ELK1; NbExp=5; IntAct=EBI-80140, EBI-726632; Q9BPY3 FAM118B; NbExp=3; IntAct=EBI-80140, EBI-726822; Q8TES7-6 FBF1; NbExp=3; IntAct=EBI-80140, EBI-10244131; Q53SE7 FLJ13057; NbExp=3; IntAct=EBI-80140, EBI-10172181; O95073 FSBP; NbExp=3; IntAct=EBI-80140, EBI-1059030; O14964 HGS; NbExp=3; IntAct=EBI-80140, EBI-740220; Q16665 HIF1A; NbExp=4; IntAct=EBI-80140, EBI-447269; P07910 HNRNPC; NbExp=3; IntAct=EBI-80140, EBI-357966; Q9Y6K9 IKBKG; NbExp=3; IntAct=EBI-80140, EBI-81279; Q8NDC0 MAPK1IP1L; NbExp=3; IntAct=EBI-80140, EBI-741424; Q9UIS9 MBD1; NbExp=3; IntAct=EBI-80140, EBI-867196; P10242 MYB; NbExp=3; IntAct=EBI-80140, EBI-298355; Q00653 NFKB2; NbExp=2; IntAct=EBI-80140, EBI-307326; P09874 PARP1; NbExp=2; IntAct=EBI-80140, EBI-355676; O75928 PIAS2; NbExp=6; IntAct=EBI-80140, EBI-348555; P29590 PML; NbExp=3; IntAct=EBI-80140, EBI-295890; O75626-2 PRDM1; NbExp=2; IntAct=EBI-80140, EBI-7839538; Q60636 Prdm1 (xeno); NbExp=3; IntAct=EBI-80140, EBI-7000804; O75475 PSIP1; NbExp=4; IntAct=EBI-80140, EBI-1801773; Q9Y4B4 RAD54L2; NbExp=3; IntAct=EBI-80140, EBI-948156; P46060 RANGAP1; NbExp=5; IntAct=EBI-80140, EBI-396091; P10276 RARA; NbExp=5; IntAct=EBI-80140, EBI-413374; Q9BQY4 RHOXF2; NbExp=3; IntAct=EBI-80140, EBI-372094; Q9Y3V2 RWDD3; NbExp=2; IntAct=EBI-80140, EBI-1549885; O43290 SART1; NbExp=2; IntAct=EBI-80140, EBI-607761; Q01826 SATB1; NbExp=2; IntAct=EBI-80140, EBI-743747; Q9P0U3 SENP1; NbExp=4; IntAct=EBI-80140, EBI-2822935; P56693 SOX10; NbExp=2; IntAct=EBI-80140, EBI-1167533; P48431 SOX2; NbExp=3; IntAct=EBI-80140, EBI-6124081; P23497 SP100; NbExp=6; IntAct=EBI-80140, EBI-751145; Q92844 TANK; NbExp=8; IntAct=EBI-80140, EBI-356349; Q12800 TFCP2; NbExp=3; IntAct=EBI-80140, EBI-717422; Q9BUZ4 TRAF4; NbExp=3; IntAct=EBI-80140, EBI-3650647; Q9UBT2 UBA2; NbExp=5; IntAct=EBI-80140, EBI-718569; P63279 UBE2I; NbExp=6; IntAct=EBI-80140, EBI-80168; Q7KZS0 UBE2I; NbExp=3; IntAct=EBI-80140, EBI-10180829; Q5W0Q7 USPL1; NbExp=5; IntAct=EBI-80140, EBI-2513899; Q9HCK0 ZBTB26; NbExp=5; IntAct=EBI-80140, EBI-3918996; Q15916 ZBTB6; NbExp=3; IntAct=EBI-80140, EBI-7227791; Q6PEW1 ZCCHC12; NbExp=3; IntAct=EBI-80140, EBI-748373; Q9UJ78 ZMYM5; NbExp=3; IntAct=EBI-80140, EBI-7228860;
# IntActP63165136
# InterProIPR000626Ubiquitin_dom
# InterProIPR022617Rad60/SUMO-like_dom
# InterProIPR029071Ubiquitin-rel_dom
# InterProIPR033950Sumo
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_Briteko00002 KEGG pathway modules
# KEGG_Briteko04121 Ubiquitin system
# KEGG_DiseaseH00516[Developmental disorder] Cleft palate
# KEGG_Pathwayko03013RNA transport
# MIM601912gene
# MIM613705phenotype
# OrganismSUMO1_HUMANHomo sapiens (Human)
# Orphanet1991Cleft lip with or without cleft palate
# PDB1A5RNMR; -; A=1-101
# PDB1TGZX-ray; 2.80 A; B=18-97
# PDB1WYWX-ray; 2.10 A; B=1-97
# PDB1Y8RX-ray; 2.75 A; C/F=1-97
# PDB1Z5SX-ray; 3.01 A; B=18-97
# PDB2ASQNMR; -; A=1-97
# PDB2BF8X-ray; 2.30 A; B=21-97
# PDB2G4DX-ray; 2.80 A; B/D=20-97
# PDB2IO2X-ray; 2.90 A; B=18-97
# PDB2IY0X-ray; 2.77 A; B=20-101
# PDB2IY1X-ray; 2.46 A; B/D=20-101
# PDB2KQSNMR; -; A=1-97
# PDB2LASNMR; -; A=1-101
# PDB2MW5NMR; -; A=1-97
# PDB2N1ANMR; -; A=1-101
# PDB2N1VNMR; -; A=1-97
# PDB2PE6X-ray; 2.40 A; B=1-97
# PDB2UYZX-ray; 1.40 A; B=20-97
# PDB2VRRX-ray; 2.22 A; B=20-97
# PDB3KYCX-ray; 2.45 A; D=1-97
# PDB3KYDX-ray; 2.61 A; D=1-94
# PDB3RZWX-ray; 2.15 A; C/D=1-97
# PDB3UIPX-ray; 2.29 A; B=18-97
# PDB4WJNX-ray; 1.50 A; A=17-97
# PDB4WJOX-ray; 1.46 A; A=17-97
# PDB4WJPX-ray; 1.70 A; A/C=17-97
# PDB4WJQX-ray; 1.35 A; A/C=17-97
# PDB5AEKX-ray; 3.00 A; B/D/F/H/J/L/N/P/R/T/V/X=20-97
# PROSITEPS50053UBIQUITIN_2
# PTMSUMO1_HUMANCleavage of precursor form by SENP1 or SENP2 is necessary for function.
# PTMSUMO1_HUMANPolymeric SUMO1 chains undergo polyubiquitination by RNF4.
# PfamPF11976Rad60-SLD
# ProteomesUP000005640Chromosome 2
# ReactomeR-HSA-3065676:SUMO is conjugated to E1 (UBA2SAE1)
# ReactomeR-HSA-3065678SUMO is transferred from E1 to E2 (UBE2I, UBC9)
# ReactomeR-HSA-3065679SUMO is proteolytically processed
# ReactomeR-HSA-3108214SUMOylation of DNA damage response and repair proteins
# ReactomeR-HSA-3232118SUMOylation of transcription factors
# ReactomeR-HSA-4570464SUMOylation of RNA binding proteins
# ReactomeR-HSA-4615885SUMOylation of DNA replication proteins
# ReactomeR-HSA-5693565Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
# ReactomeR-HSA-5693571Nonhomologous End-Joining (NHEJ)
# ReactomeR-HSA-5693607Processing of DNA double-strand break ends
# ReactomeR-HSA-5696395Formation of Incision Complex in GG-NER
# ReactomeR-HSA-69473G2/M DNA damage checkpoint
# ReactomeR-HSA-877312Regulation of IFNG signaling
# ReactomeR-HSA-8866904Negative regulation of activity of TFAP2 (AP-2) family transcription factors
# RecNameSUMO1_HUMANSmall ubiquitin-related modifier 1
# RefSeqNP_001005781NM_001005781.1. [P63165-1]
# RefSeqNP_001005782NM_001005782.1. [P63165-2]
# RefSeqNP_003343NM_003352.4. [P63165-1]
# SIMILARITYBelongs to the ubiquitin family. SUMO subfamily. {ECO0000305}.
# SIMILARITYContains 1 ubiquitin-like domain. {ECO:0000255|PROSITE-ProRulePRU00214}.
# SMARTSM00213UBQ
# SUBCELLULAR LOCATIONSUMO1_HUMANNucleus membrane. Nucleus speckle. Cytoplasm. Nucleus, PML body. Cell membrane {ECO 0000269|PubMed 19223394}. Nucleus {ECO 0000269|PubMed 24651376}. Note=Recruited by BCL11A into the nuclear body. In the presence of ZFHX3, sequesterd to nuclear body (NB)-like dots in the nucleus some of which overlap or closely associate with PML body. {ECO 0000250|UniProtKB P63166, ECO 0000269|PubMed 24651376}.
# SUBUNITSUMO1_HUMANCovalently attached to KCNB1; UBE2I increases cross- linking with KCNB1 and PIAS1 decreases cross-links with KCNB1 (PubMed 19223394). Interacts with SAE2, RANBP2, PIAS1 and PIAS2. Interacts with PARK2. Covalently attached to a number of proteins such as IKFZ1, PML, RANGAP1, HIPK2, SP100, p53, p73-alpha, MDM2, JUN, DNMT3B and TDG. Also interacts with HIF1A, HIPK2, HIPK3, CHD3, EXOSC9, RAD51 and RAD52. Interacts with USP25 (via ts SIM domain); the interaction weakly sumoylates USP25. Interacts with SIMC1, CASP8AP2, RNF111 AND SOBP (via SIM domains). Interacts with BHLHE40/DEC1. Interacts with RWDD3. Interacts with UBE2I/UBC9 and this interaction is enhanced in the presence of RWDD3. Interacts with MTA1. Interacts with Epstein-barr virus BGLF4. {ECO 0000269|PubMed 10961991, ECO 0000269|PubMed 12565818, ECO 0000269|PubMed 12924945, ECO 0000269|PubMed 15296745, ECO 0000269|PubMed 15608651, ECO 0000269|PubMed 15660128, ECO 0000269|PubMed 15931224, ECO 0000269|PubMed 16204249, ECO 0000269|PubMed 16712526, ECO 0000269|PubMed 16955485, ECO 0000269|PubMed 17099698, ECO 0000269|PubMed 17956732, ECO 0000269|PubMed 18538659, ECO 0000269|PubMed 19223394, ECO 0000269|PubMed 21829689, ECO 0000269|PubMed 21965678, ECO 0000269|PubMed 22398289, ECO 0000269|PubMed 23086935}.
# SUPFAMSSF54236SSF54236
# TopDownProteomicsP63165-1-. [P63165-1]
# UCSCuc002uyzhuman. [P63165-1]
# WEB RESOURCESUMO1_HUMANName=Wikipedia; Note=SUMO protein entry; URL="https //en.wikipedia.org/wiki/SUMO_protein";
# eggNOGCOG5227LUCA
# eggNOGKOG1769Eukaryota
BLASTswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:SUMO1_HUMAN
BioCycMetaCyc:ENSG00000116030-MONOMERhttp://biocyc.org/getid?id=MetaCyc:ENSG00000116030-MONOMER
BioCycZFISH:ENSG00000116030-MONOMERhttp://biocyc.org/getid?id=ZFISH:ENSG00000116030-MONOMER
COXPRESdb7341http://coxpresdb.jp/data/gene/7341.shtml
CleanExHS_SUMO1http://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_SUMO1
DIPDIP-29080Nhttp://dip.doe-mbi.ucla.edu/dip/Browse.cgi?ID=DIP-29080N
DOI10.1002/jnr.21041http://dx.doi.org/10.1002/jnr.21041
DOI10.1006/geno.1996.0462http://dx.doi.org/10.1006/geno.1996.0462
DOI10.1006/geno.1996.4556http://dx.doi.org/10.1006/geno.1996.4556
DOI10.1006/jmbi.1998.1839http://dx.doi.org/10.1006/jmbi.1998.1839
DOI10.1016/S0014-4827(02)00025-3http://dx.doi.org/10.1016/S0014-4827(02)00025-3
DOI10.1016/S0092-8674(00)81862-0http://dx.doi.org/10.1016/S0092-8674(00)81862-0
DOI10.1016/S0378-1119(02)00843-0http://dx.doi.org/10.1016/S0378-1119(02)00843-0
DOI10.1016/j.cell.2006.09.026http://dx.doi.org/10.1016/j.cell.2006.09.026
DOI10.1016/j.cell.2007.07.044http://dx.doi.org/10.1016/j.cell.2007.07.044
DOI10.1016/j.celrep.2015.02.033http://dx.doi.org/10.1016/j.celrep.2015.02.033
DOI10.1016/j.jprot.2013.11.014http://dx.doi.org/10.1016/j.jprot.2013.11.014
DOI10.1016/j.molcel.2008.03.021http://dx.doi.org/10.1016/j.molcel.2008.03.021
DOI10.1016/j.molcel.2008.07.007http://dx.doi.org/10.1016/j.molcel.2008.07.007
DOI10.1016/j.str.2004.05.023http://dx.doi.org/10.1016/j.str.2004.05.023
DOI10.1021/ac9004309http://dx.doi.org/10.1021/ac9004309
DOI10.1021/bi0345283http://dx.doi.org/10.1021/bi0345283
DOI10.1021/pr300630khttp://dx.doi.org/10.1021/pr300630k
DOI10.1021/pr800368mhttp://dx.doi.org/10.1021/pr800368m
DOI10.1038/nature03466http://dx.doi.org/10.1038/nature03466
DOI10.1038/nature03588http://dx.doi.org/10.1038/nature03588
DOI10.1038/nature03634http://dx.doi.org/10.1038/nature03634
DOI10.1038/ncb1716http://dx.doi.org/10.1038/ncb1716
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1038/nsmb.2890http://dx.doi.org/10.1038/nsmb.2890
DOI10.1038/nsmb1172http://dx.doi.org/10.1038/nsmb1172
DOI10.1038/nsmb878http://dx.doi.org/10.1038/nsmb878
DOI10.1038/nsmb903http://dx.doi.org/10.1038/nsmb903
DOI10.1038/sj.emboj.7600552http://dx.doi.org/10.1038/sj.emboj.7600552
DOI10.1042/BJ20041210http://dx.doi.org/10.1042/BJ20041210
DOI10.1042/BJ20060526http://dx.doi.org/10.1042/BJ20060526
DOI10.1074/jbc.272.22.14001http://dx.doi.org/10.1074/jbc.272.22.14001
DOI10.1074/jbc.M004293200http://dx.doi.org/10.1074/jbc.M004293200
DOI10.1074/jbc.M110.106955http://dx.doi.org/10.1074/jbc.M110.106955
DOI10.1074/jbc.M111.267237http://dx.doi.org/10.1074/jbc.M111.267237
DOI10.1074/jbc.M112.410985http://dx.doi.org/10.1074/jbc.M112.410985
DOI10.1074/jbc.M507059200http://dx.doi.org/10.1074/jbc.M507059200
DOI10.1074/mcp.O114.044792http://dx.doi.org/10.1074/mcp.O114.044792
DOI10.1083/jcb.135.6.1457http://dx.doi.org/10.1083/jcb.135.6.1457
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1126/science.1128406http://dx.doi.org/10.1126/science.1128406
DOI10.1126/scisignal.2000475http://dx.doi.org/10.1126/scisignal.2000475
DOI10.1126/scisignal.2001570http://dx.doi.org/10.1126/scisignal.2001570
DOI10.1128/JVI.00314-12http://dx.doi.org/10.1128/JVI.00314-12
DOI10.1158/0008-5472.CAN-11-3159http://dx.doi.org/10.1158/0008-5472.CAN-11-3159
DOI10.1186/1752-0509-5-17http://dx.doi.org/10.1186/1752-0509-5-17
DOI10.1242/jcs.036632http://dx.doi.org/10.1242/jcs.036632
DOI10.1371/journal.pone.0023046http://dx.doi.org/10.1371/journal.pone.0023046
DOI10.1371/journal.pone.0092746http://dx.doi.org/10.1371/journal.pone.0092746
EMBLAB062294http://www.ebi.ac.uk/ena/data/view/AB062294
EMBLAC079354http://www.ebi.ac.uk/ena/data/view/AC079354
EMBLAK311840http://www.ebi.ac.uk/ena/data/view/AK311840
EMBLBC006462http://www.ebi.ac.uk/ena/data/view/BC006462
EMBLBC053528http://www.ebi.ac.uk/ena/data/view/BC053528
EMBLBC066306http://www.ebi.ac.uk/ena/data/view/BC066306
EMBLBT006632http://www.ebi.ac.uk/ena/data/view/BT006632
EMBLCH471063http://www.ebi.ac.uk/ena/data/view/CH471063
EMBLCH471063http://www.ebi.ac.uk/ena/data/view/CH471063
EMBLCR542147http://www.ebi.ac.uk/ena/data/view/CR542147
EMBLCR542156http://www.ebi.ac.uk/ena/data/view/CR542156
EMBLU38784http://www.ebi.ac.uk/ena/data/view/U38784
EMBLU61397http://www.ebi.ac.uk/ena/data/view/U61397
EMBLU67122http://www.ebi.ac.uk/ena/data/view/U67122
EMBLU72722http://www.ebi.ac.uk/ena/data/view/U72722
EMBLU83117http://www.ebi.ac.uk/ena/data/view/U83117
EMBLX99586http://www.ebi.ac.uk/ena/data/view/X99586
EnsemblENST00000392244http://www.ensembl.org/id/ENST00000392244
EnsemblENST00000392245http://www.ensembl.org/id/ENST00000392245
EnsemblENST00000392246http://www.ensembl.org/id/ENST00000392246
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0000792http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000792
GO_componentGO:0001650http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001650
GO_componentGO:0001741http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0001741
GO_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GO_componentGO:0005643http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005643
GO_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GO_componentGO:0005730http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GO_componentGO:0016604http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016604
GO_componentGO:0016605http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016605
GO_componentGO:0016607http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016607
GO_componentGO:0030425http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030425
GO_componentGO:0031965http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031965
GO_componentGO:0045202http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045202
GO_componentGO:0097165http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0097165
GO_functionGO:0008134http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008134
GO_functionGO:0015459http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0015459
GO_functionGO:0031386http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031386
GO_functionGO:0031625http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031625
GO_functionGO:0044325http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044325
GO_functionGO:0044822http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044822
GO_processGO:0006281http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006281
GO_processGO:0006303http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006303
GO_processGO:0016032http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016032
GO_processGO:0016925http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0016925
GO_processGO:0030578http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0030578
GO_processGO:0031334http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0031334
GO_processGO:0032436http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032436
GO_processGO:0032880http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0032880
GO_processGO:0034605http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0034605
GO_processGO:0043392http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043392
GO_processGO:0043433http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043433
GO_processGO:0045759http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045759
GO_processGO:0045892http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045892
GO_processGO:0050821http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0050821
GO_processGO:0060021http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060021
GO_processGO:0060334http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0060334
GO_processGO:0070911http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070911
GO_processGO:0071276http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0071276
GO_processGO:0086004http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0086004
GO_processGO:0090204http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090204
GO_processGO:1901896http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1901896
GO_processGO:1902260http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:1902260
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005634http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005634
GOslim_componentGO:0005654http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005654
GOslim_componentGO:0005694http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005694
GOslim_componentGO:0005730http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005730
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005886http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005886
GOslim_componentGO:0043226http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226
GOslim_componentGO:0043234http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043234
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0003723http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003723
GOslim_functionGO:0008134http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008134
GOslim_functionGO:0019899http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0019899
GOslim_processGO:0006259http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006259
GOslim_processGO:0006464http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006464
GOslim_processGO:0006950http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006950
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GOslim_processGO:0044403http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0044403
GOslim_processGO:0048856http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048856
GeneCardsSUMO1http://www.genecards.org/cgi-bin/carddisp.pl?gc_id=SUMO1
GeneID7341http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=7341
GeneTreeENSGT00390000018808http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00390000018808
HGNCHGNC:12502http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:12502
HOGENOMHOG000207495http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000207495&db=HOGENOM6
HOVERGENHBG053025http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG053025&db=HOVERGEN
HPACAB004269http://www.proteinatlas.org/tissue_profile.php?antibody_id=CAB004269
HPAHPA056956http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA056956
InParanoidP63165http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=P63165
IntActP63165http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=P63165*
InterProIPR000626http://www.ebi.ac.uk/interpro/entry/IPR000626
InterProIPR022617http://www.ebi.ac.uk/interpro/entry/IPR022617
InterProIPR029071http://www.ebi.ac.uk/interpro/entry/IPR029071
InterProIPR033950http://www.ebi.ac.uk/interpro/entry/IPR033950
Jabion7341http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=7341
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_Briteko00002http://www.genome.jp/dbget-bin/www_bget?ko00002
KEGG_Briteko04121http://www.genome.jp/dbget-bin/www_bget?ko04121
KEGG_DiseaseH00516http://www.genome.jp/dbget-bin/www_bget?H00516
KEGG_Genehsa:7341http://www.genome.jp/dbget-bin/www_bget?hsa:7341
KEGG_OrthologyKO:K12160http://www.genome.jp/dbget-bin/www_bget?KO:K12160
KEGG_Pathwayko03013http://www.genome.jp/kegg-bin/show_pathway?ko03013
MIM601912http://www.ncbi.nlm.nih.gov/omim/601912
MIM613705http://www.ncbi.nlm.nih.gov/omim/613705
MINTMINT-137859http://mint.bio.uniroma2.it/mint/search/search.do?queryType=protein&interactorAc=MINT-137859
Orphanet1991http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1991
PDB1A5Rhttp://www.ebi.ac.uk/pdbe-srv/view/entry/1A5R
PDB1TGZhttp://www.ebi.ac.uk/pdbe-srv/view/entry/1TGZ
PDB1WYWhttp://www.ebi.ac.uk/pdbe-srv/view/entry/1WYW
PDB1Y8Rhttp://www.ebi.ac.uk/pdbe-srv/view/entry/1Y8R
PDB1Z5Shttp://www.ebi.ac.uk/pdbe-srv/view/entry/1Z5S
PDB2ASQhttp://www.ebi.ac.uk/pdbe-srv/view/entry/2ASQ
PDB2BF8http://www.ebi.ac.uk/pdbe-srv/view/entry/2BF8
PDB2G4Dhttp://www.ebi.ac.uk/pdbe-srv/view/entry/2G4D
PDB2IO2http://www.ebi.ac.uk/pdbe-srv/view/entry/2IO2
PDB2IY0http://www.ebi.ac.uk/pdbe-srv/view/entry/2IY0
PDB2IY1http://www.ebi.ac.uk/pdbe-srv/view/entry/2IY1
PDB2KQShttp://www.ebi.ac.uk/pdbe-srv/view/entry/2KQS
PDB2LAShttp://www.ebi.ac.uk/pdbe-srv/view/entry/2LAS
PDB2MW5http://www.ebi.ac.uk/pdbe-srv/view/entry/2MW5
PDB2N1Ahttp://www.ebi.ac.uk/pdbe-srv/view/entry/2N1A
PDB2N1Vhttp://www.ebi.ac.uk/pdbe-srv/view/entry/2N1V
PDB2PE6http://www.ebi.ac.uk/pdbe-srv/view/entry/2PE6
PDB2UYZhttp://www.ebi.ac.uk/pdbe-srv/view/entry/2UYZ
PDB2VRRhttp://www.ebi.ac.uk/pdbe-srv/view/entry/2VRR
PDB3KYChttp://www.ebi.ac.uk/pdbe-srv/view/entry/3KYC
PDB3KYDhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3KYD
PDB3RZWhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3RZW
PDB3UIPhttp://www.ebi.ac.uk/pdbe-srv/view/entry/3UIP
PDB4WJNhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4WJN
PDB4WJOhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4WJO
PDB4WJPhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4WJP
PDB4WJQhttp://www.ebi.ac.uk/pdbe-srv/view/entry/4WJQ
PDB5AEKhttp://www.ebi.ac.uk/pdbe-srv/view/entry/5AEK
PDBsum1A5Rhttp://www.ebi.ac.uk/pdbsum/1A5R
PDBsum1TGZhttp://www.ebi.ac.uk/pdbsum/1TGZ
PDBsum1WYWhttp://www.ebi.ac.uk/pdbsum/1WYW
PDBsum1Y8Rhttp://www.ebi.ac.uk/pdbsum/1Y8R
PDBsum1Z5Shttp://www.ebi.ac.uk/pdbsum/1Z5S
PDBsum2ASQhttp://www.ebi.ac.uk/pdbsum/2ASQ
PDBsum2BF8http://www.ebi.ac.uk/pdbsum/2BF8
PDBsum2G4Dhttp://www.ebi.ac.uk/pdbsum/2G4D
PDBsum2IO2http://www.ebi.ac.uk/pdbsum/2IO2
PDBsum2IY0http://www.ebi.ac.uk/pdbsum/2IY0
PDBsum2IY1http://www.ebi.ac.uk/pdbsum/2IY1
PDBsum2KQShttp://www.ebi.ac.uk/pdbsum/2KQS
PDBsum2LAShttp://www.ebi.ac.uk/pdbsum/2LAS
PDBsum2MW5http://www.ebi.ac.uk/pdbsum/2MW5
PDBsum2N1Ahttp://www.ebi.ac.uk/pdbsum/2N1A
PDBsum2N1Vhttp://www.ebi.ac.uk/pdbsum/2N1V
PDBsum2PE6http://www.ebi.ac.uk/pdbsum/2PE6
PDBsum2UYZhttp://www.ebi.ac.uk/pdbsum/2UYZ
PDBsum2VRRhttp://www.ebi.ac.uk/pdbsum/2VRR
PDBsum3KYChttp://www.ebi.ac.uk/pdbsum/3KYC
PDBsum3KYDhttp://www.ebi.ac.uk/pdbsum/3KYD
PDBsum3RZWhttp://www.ebi.ac.uk/pdbsum/3RZW
PDBsum3UIPhttp://www.ebi.ac.uk/pdbsum/3UIP
PDBsum4WJNhttp://www.ebi.ac.uk/pdbsum/4WJN
PDBsum4WJOhttp://www.ebi.ac.uk/pdbsum/4WJO
PDBsum4WJPhttp://www.ebi.ac.uk/pdbsum/4WJP
PDBsum4WJQhttp://www.ebi.ac.uk/pdbsum/4WJQ
PDBsum5AEKhttp://www.ebi.ac.uk/pdbsum/5AEK
PROSITEPS50053http://prosite.expasy.org/cgi-bin/prosite/nicedoc.pl?PS50053
PSORT-Bswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/kpsortb/swissprot:SUMO1_HUMAN
PSORT2swissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/kpsort2/swissprot:SUMO1_HUMAN
PSORTswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/kpsort/swissprot:SUMO1_HUMAN
PfamPF11976http://pfam.xfam.org/family/PF11976
PharmGKBPA37149http://www.pharmgkb.org/do/serve?objId=PA37149&objCls=Gene
Phobiusswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/kphobius/swissprot:SUMO1_HUMAN
PhylomeDBP63165http://phylomedb.org/?seqid=P63165
ProteinModelPortalP63165http://www.proteinmodelportal.org/query/uniprot/P63165
PubMed10574707http://www.ncbi.nlm.nih.gov/pubmed/10574707
PubMed10961991http://www.ncbi.nlm.nih.gov/pubmed/10961991
PubMed12383504http://www.ncbi.nlm.nih.gov/pubmed/12383504
PubMed12565818http://www.ncbi.nlm.nih.gov/pubmed/12565818
PubMed12924945http://www.ncbi.nlm.nih.gov/pubmed/12924945
PubMed14702039http://www.ncbi.nlm.nih.gov/pubmed/14702039
PubMed15296745http://www.ncbi.nlm.nih.gov/pubmed/15296745
PubMed15487983http://www.ncbi.nlm.nih.gov/pubmed/15487983
PubMed15489334http://www.ncbi.nlm.nih.gov/pubmed/15489334
PubMed15608651http://www.ncbi.nlm.nih.gov/pubmed/15608651
PubMed15660128http://www.ncbi.nlm.nih.gov/pubmed/15660128
PubMed15723079http://www.ncbi.nlm.nih.gov/pubmed/15723079
PubMed15815621http://www.ncbi.nlm.nih.gov/pubmed/15815621
PubMed15931224http://www.ncbi.nlm.nih.gov/pubmed/15931224
PubMed15959518http://www.ncbi.nlm.nih.gov/pubmed/15959518
PubMed16204249http://www.ncbi.nlm.nih.gov/pubmed/16204249
PubMed16712526http://www.ncbi.nlm.nih.gov/pubmed/16712526
PubMed16955485http://www.ncbi.nlm.nih.gov/pubmed/16955485
PubMed16990542http://www.ncbi.nlm.nih.gov/pubmed/16990542
PubMed17081983http://www.ncbi.nlm.nih.gov/pubmed/17081983
PubMed17099698http://www.ncbi.nlm.nih.gov/pubmed/17099698
PubMed17956732http://www.ncbi.nlm.nih.gov/pubmed/17956732
PubMed18408734http://www.ncbi.nlm.nih.gov/pubmed/18408734
PubMed18538659http://www.ncbi.nlm.nih.gov/pubmed/18538659
PubMed18691976http://www.ncbi.nlm.nih.gov/pubmed/18691976
PubMed18707152http://www.ncbi.nlm.nih.gov/pubmed/18707152
PubMed19223394http://www.ncbi.nlm.nih.gov/pubmed/19223394
PubMed19413330http://www.ncbi.nlm.nih.gov/pubmed/19413330
PubMed20068231http://www.ncbi.nlm.nih.gov/pubmed/20068231
PubMed20388717http://www.ncbi.nlm.nih.gov/pubmed/20388717
PubMed21269460http://www.ncbi.nlm.nih.gov/pubmed/21269460
PubMed21406692http://www.ncbi.nlm.nih.gov/pubmed/21406692
PubMed21829689http://www.ncbi.nlm.nih.gov/pubmed/21829689
PubMed21965678http://www.ncbi.nlm.nih.gov/pubmed/21965678
PubMed22398289http://www.ncbi.nlm.nih.gov/pubmed/22398289
PubMed22406621http://www.ncbi.nlm.nih.gov/pubmed/22406621
PubMed23086935http://www.ncbi.nlm.nih.gov/pubmed/23086935
PubMed23186163http://www.ncbi.nlm.nih.gov/pubmed/23186163
PubMed24275569http://www.ncbi.nlm.nih.gov/pubmed/24275569
PubMed24651376http://www.ncbi.nlm.nih.gov/pubmed/24651376
PubMed25218447http://www.ncbi.nlm.nih.gov/pubmed/25218447
PubMed25755297http://www.ncbi.nlm.nih.gov/pubmed/25755297
PubMed25772364http://www.ncbi.nlm.nih.gov/pubmed/25772364
PubMed8806687http://www.ncbi.nlm.nih.gov/pubmed/8806687
PubMed8812453http://www.ncbi.nlm.nih.gov/pubmed/8812453
PubMed8906799http://www.ncbi.nlm.nih.gov/pubmed/8906799
PubMed8978815http://www.ncbi.nlm.nih.gov/pubmed/8978815
PubMed9019411http://www.ncbi.nlm.nih.gov/pubmed/9019411
PubMed9119407http://www.ncbi.nlm.nih.gov/pubmed/9119407
PubMed9162015http://www.ncbi.nlm.nih.gov/pubmed/9162015
PubMed9654451http://www.ncbi.nlm.nih.gov/pubmed/9654451
ReactomeR-HSA-3065676http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3065676
ReactomeR-HSA-3065678http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3065678
ReactomeR-HSA-3065679http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3065679
ReactomeR-HSA-3108214http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3108214
ReactomeR-HSA-3232118http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-3232118
ReactomeR-HSA-4570464http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4570464
ReactomeR-HSA-4615885http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-4615885
ReactomeR-HSA-5693565http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5693565
ReactomeR-HSA-5693571http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5693571
ReactomeR-HSA-5693607http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5693607
ReactomeR-HSA-5696395http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5696395
ReactomeR-HSA-69473http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-69473
ReactomeR-HSA-877312http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-877312
ReactomeR-HSA-8866904http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-8866904
RefSeqNP_001005781http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001005781
RefSeqNP_001005782http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_001005782
RefSeqNP_003343http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=NP_003343
SMARTSM00213http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00213
SMRP63165http://swissmodel.expasy.org/repository/smr.php?sptr_ac=P63165
STRING9606.ENSP00000376076http://string-db.org/newstring_cgi/show_network_section.pl?identifier=9606.ENSP00000376076&targetmode=cogs
SUPFAMSSF54236http://supfam.org/SUPERFAMILY/cgi-bin/scop.cgi?ipid=SSF54236
UCSCuc002uyzhttp://genome.ucsc.edu/cgi-bin/hgGene?hgg_gene=uc002uyz&org=rat
UniGeneHs.81424http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=At&CID=Hs.81424
UniProtKB-ACP63165http://www.uniprot.org/uniprot/P63165
UniProtKBSUMO1_HUMANhttp://www.uniprot.org/uniprot/SUMO1_HUMAN
chargeswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/charge/swissprot:SUMO1_HUMAN
eggNOGCOG5227http://eggnogapi.embl.de/nog_data/html/tree/COG5227
eggNOGKOG1769http://eggnogapi.embl.de/nog_data/html/tree/KOG1769
epestfindswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/epestfind/swissprot:SUMO1_HUMAN
garnierswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/garnier/swissprot:SUMO1_HUMAN
helixturnhelixswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/helixturnhelix/swissprot:SUMO1_HUMAN
hmomentswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/hmoment/swissprot:SUMO1_HUMAN
iepswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/iep/swissprot:SUMO1_HUMAN
inforesidueswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/inforesidue/swissprot:SUMO1_HUMAN
neXtProtNX_P63165http://www.nextprot.org/db/entry/NX_P63165
octanolswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/octanol/swissprot:SUMO1_HUMAN
pepcoilswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/pepcoil/swissprot:SUMO1_HUMAN
pepdigestswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/pepdigest/swissprot:SUMO1_HUMAN
pepinfoswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/pepinfo/swissprot:SUMO1_HUMAN
pepnetswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/pepnet/swissprot:SUMO1_HUMAN
pepstatsswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/pepstats/swissprot:SUMO1_HUMAN
pepwheelswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/pepwheel/swissprot:SUMO1_HUMAN
pepwindowswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/pepwindow/swissprot:SUMO1_HUMAN
sigcleaveswissprot:SUMO1_HUMANhttp://rest.g-language.org/emboss/sigcleave/swissprot:SUMO1_HUMAN
DataBaseIDURL or Descriptions
# ALTERNATIVE PRODUCTSTFG_HUMANEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q92734-1; Sequence=Displayed; Name=2; IsoId=Q92734-2; Sequence=VSP_047131; Note=No experimental confirmation available.; Name=3; IsoId=Q92734-3; Sequence=VSP_057414, VSP_057415; Name=4; IsoId=Q92734-4; Sequence=VSP_047131, VSP_057414, VSP_057415;
# AltNameTFG_HUMANTRK-fused gene protein
# BioGrid115624121
# CCDSCCDS2939-. [Q92734-1]
# CCDSCCDS56266-. [Q92734-2]
# ChiTaRSTFGhuman
# DISEASETFG_HUMANNeuropathy, hereditary motor and sensory, Okinawa type (HMSNO) [MIM 604484] A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis. {ECO 0000269|PubMed 22883144}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# DISEASETFG_HUMANNote=A chromosomal aberration involving TFG is found in papillary thyroid carcinomas (PTCs). Translocation t(1;3)(q21;q11) with NTRK1. The TFG sequence is fused to the 3'-end of NTRK1 generating the TRKT3 (TRK-T3) fusion transcript. {ECO 0000269|PubMed 7565764}.
# DISEASETFG_HUMANSpastic paraplegia 57, autosomal recessive (SPG57) [MIM 615658] A complicated form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. {ECO 0000269|PubMed 23479643}. Note=The disease is caused by mutations affecting the gene represented in this entry.
# EnsemblENST00000240851ENSP00000240851; ENSG00000114354. [Q92734-1]
# EnsemblENST00000418917ENSP00000397182; ENSG00000114354. [Q92734-2]
# EnsemblENST00000476228ENSP00000417952; ENSG00000114354. [Q92734-2]
# EnsemblENST00000490574ENSP00000419960; ENSG00000114354. [Q92734-1]
# EnsemblENST00000615993ENSP00000479269; ENSG00000114354. [Q92734-3]
# EnsemblENST00000620299ENSP00000479981; ENSG00000114354. [Q92734-3]
# ExpressionAtlasQ92734baseline and differential
# FUNCTIONTFG_HUMANPlays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules. {ECO 0000269|PubMed 23479643}.
# GO_componentGO:0000139Golgi membrane; IEA:GOC.
# GO_componentGO:0005737cytoplasm; NAS:UniProtKB.
# GO_componentGO:0005829cytosol; TAS:Reactome.
# GO_componentGO:0070062extracellular exosome; IDA:UniProtKB.
# GO_functionGO:0004871signal transducer activity; IMP:UniProtKB.
# GO_functionGO:0042802identical protein binding; IPI:IntAct.
# GO_processGO:0043123positive regulation of I-kappaB kinase/NF-kappaB signaling; IMP:UniProtKB.
# GO_processGO:0048208COPII vesicle coating; TAS:Reactome.
# GOslim_componentGO:0005575cellular_component
# GOslim_componentGO:0005737cytoplasm
# GOslim_componentGO:0005829cytosol
# GOslim_componentGO:0043226organelle
# GOslim_functionGO:0003674molecular_function
# GOslim_functionGO:0004871signal transducer activity
# GOslim_processGO:0006461protein complex assembly
# GOslim_processGO:0008150biological_process
# GenevisibleQ92734HS
# HGNCHGNC:11758TFG
# INTERACTIONTFG_HUMANSelf; NbExp=6; IntAct=EBI-357061, EBI-357061; Q5T0G8 ANXA11; NbExp=3; IntAct=EBI-357061, EBI-10245225; Q5VV41 ARHGEF16; NbExp=3; IntAct=EBI-357061, EBI-1057448; Q8N9W6 BOLL; NbExp=4; IntAct=EBI-357061, EBI-998198; D3DR37 CEP55; NbExp=3; IntAct=EBI-357061, EBI-10173536; P33240 CSTF2; NbExp=5; IntAct=EBI-357061, EBI-711360; Q01844 EWSR1; NbExp=3; IntAct=EBI-357061, EBI-739737; P52597 HNRNPF; NbExp=3; IntAct=EBI-357061, EBI-352986; Q9Y5V3 MAGED1; NbExp=7; IntAct=EBI-357061, EBI-716006; Q8NDC0 MAPK1IP1L; NbExp=5; IntAct=EBI-357061, EBI-741424; Q9UBV8 PEF1; NbExp=3; IntAct=EBI-357061, EBI-724639; O15162 PLSCR1; NbExp=2; IntAct=EBI-357061, EBI-740019; P86479 PRR20C; NbExp=4; IntAct=EBI-357061, EBI-10172814; Q93062 RBPMS; NbExp=3; IntAct=EBI-357061, EBI-740322; O95486 SEC24A; NbExp=3; IntAct=EBI-357061, EBI-749911; Q9NZD8 SPG21; NbExp=5; IntAct=EBI-357061, EBI-742688; A5D8V6 VPS37C; NbExp=3; IntAct=EBI-357061, EBI-2559305;
# IntActQ9273496
# InterProIPR000270PB1_dom
# InterProIPR033512TFG
# KEGG_Briteko00001KEGG Orthology (KO)
# KEGG_DiseaseH00014[Cancer] Non-small cell lung cancer
# KEGG_DiseaseH00032[Cancer] Thyroid cancer
# KEGG_Pathwayko05200Pathways in cancer
# KEGG_Pathwayko05216Thyroid cancer
# MIM602498gene
# MIM604484phenotype
# MIM615658phenotype
# OrganismTFG_HUMANHomo sapiens (Human)
# Orphanet146Papillary or follicular thyroid carcinoma
# Orphanet209916Extraskeletal myxoid chondrosarcoma
# Orphanet320406Spastic paraplegia-optic atrophy-neuropathy syndrome
# Orphanet90117Hereditary motor and sensory neuropathy, Okinawa type
# PANTHERPTHR15335PTHR15335
# PROSITEPS51745PB1
# PfamPF00564PB1
# ProteomesUP000005640Chromosome 3
# ReactomeR-HSA-204005COPII (Coat Protein 2) Mediated Vesicle Transport
# RecNameTFG_HUMANProtein TFG
# RefSeqNP_001007566NM_001007565.2. [Q92734-1]
# RefSeqNP_001182407NM_001195478.1. [Q92734-1]
# RefSeqNP_001182408NM_001195479.1. [Q92734-2]
# RefSeqNP_006061NM_006070.5. [Q92734-1]
# RefSeqXP_005247123XM_005247066.1. [Q92734-2]
# RefSeqXP_006713535XM_006713472.1. [Q92734-1]
# RefSeqXP_006713536XM_006713473.1. [Q92734-1]
# RefSeqXP_011510636XM_011512334.1. [Q92734-1]
# RefSeqXP_016861016XM_017005527.1. [Q92734-2]
# RefSeqXP_016861017XM_017005528.1. [Q92734-2]
# RefSeqXP_016861018XM_017005529.1. [Q92734-2]
# RefSeqXP_016861019XM_017005530.1. [Q92734-2]
# SIMILARITYContains 1 PB1 domain. {ECO:0000255|PROSITE- ProRulePRU01081}.
# SMARTSM00666PB1
# SUBUNITSelf-associates to form an oligomeric complex. {ECO:0000269|PubMed23479643}.
# TISSUE SPECIFICITYTFG_HUMANUbiquitous.
# UCSCuc003duehuman. [Q92734-1]
# UCSCuc031sauhuman
# WEB RESOURCETFG_HUMANName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http //atlasgeneticsoncology.org/Genes/TFGID281.html";
# eggNOGENOG410IH8PEukaryota
# eggNOGENOG410Z8FQLUCA
BLASTswissprot:TFG_HUMANhttp://rest.g-language.org/emboss/kblast/swissprot:TFG_HUMAN
COXPRESdb10342http://coxpresdb.jp/data/gene/10342.shtml
CleanExHS_TFGhttp://www.cleanex.isb-sib.ch/cgi-bin/get_doc?db=cleanex&format=nice&entry=HS_TFG
DOI10.1006/geno.1997.4625http://dx.doi.org/10.1006/geno.1997.4625
DOI10.1016/j.ajhg.2012.07.014http://dx.doi.org/10.1016/j.ajhg.2012.07.014
DOI10.1016/j.jprot.2013.11.014http://dx.doi.org/10.1016/j.jprot.2013.11.014
DOI10.1021/ac9004309http://dx.doi.org/10.1021/ac9004309
DOI10.1021/pr300630khttp://dx.doi.org/10.1021/pr300630k
DOI10.1038/nature04728http://dx.doi.org/10.1038/nature04728
DOI10.1038/ng1285http://dx.doi.org/10.1038/ng1285
DOI10.1073/pnas.0805139105http://dx.doi.org/10.1073/pnas.0805139105
DOI10.1073/pnas.1217197110http://dx.doi.org/10.1073/pnas.1217197110
DOI10.1074/mcp.M111.015131http://dx.doi.org/10.1074/mcp.M111.015131
DOI10.1074/mcp.O113.027870http://dx.doi.org/10.1074/mcp.O113.027870
DOI10.1101/gr.2596504http://dx.doi.org/10.1101/gr.2596504
DOI10.1126/science.1133427http://dx.doi.org/10.1126/science.1133427
DOI10.1126/scisignal.2000007http://dx.doi.org/10.1126/scisignal.2000007
DOI10.1128/MCB.15.11.6118http://dx.doi.org/10.1128/MCB.15.11.6118
DOI10.1186/1752-0509-5-17http://dx.doi.org/10.1186/1752-0509-5-17
EMBLAB731569http://www.ebi.ac.uk/ena/data/view/AB731569
EMBLAB731570http://www.ebi.ac.uk/ena/data/view/AB731570
EMBLAC068763http://www.ebi.ac.uk/ena/data/view/AC068763
EMBLAK093456http://www.ebi.ac.uk/ena/data/view/AK093456
EMBLBC001483http://www.ebi.ac.uk/ena/data/view/BC001483
EMBLBC009241http://www.ebi.ac.uk/ena/data/view/BC009241
EMBLBC023599http://www.ebi.ac.uk/ena/data/view/BC023599
EMBLBT007428http://www.ebi.ac.uk/ena/data/view/BT007428
EMBLCH471052http://www.ebi.ac.uk/ena/data/view/CH471052
EMBLCH471052http://www.ebi.ac.uk/ena/data/view/CH471052
EMBLCH471052http://www.ebi.ac.uk/ena/data/view/CH471052
EMBLCH471052http://www.ebi.ac.uk/ena/data/view/CH471052
EMBLCH471052http://www.ebi.ac.uk/ena/data/view/CH471052
EMBLCR456781http://www.ebi.ac.uk/ena/data/view/CR456781
EMBLKF457659http://www.ebi.ac.uk/ena/data/view/KF457659
EMBLKF457666http://www.ebi.ac.uk/ena/data/view/KF457666
EMBLX85960http://www.ebi.ac.uk/ena/data/view/X85960
EMBLY07968http://www.ebi.ac.uk/ena/data/view/Y07968
EnsemblENST00000240851http://www.ensembl.org/id/ENST00000240851
EnsemblENST00000418917http://www.ensembl.org/id/ENST00000418917
EnsemblENST00000476228http://www.ensembl.org/id/ENST00000476228
EnsemblENST00000490574http://www.ensembl.org/id/ENST00000490574
EnsemblENST00000615993http://www.ensembl.org/id/ENST00000615993
EnsemblENST00000620299http://www.ensembl.org/id/ENST00000620299
G-Links9606http://link.g-language.org/9606/format=tsv
GO_componentGO:0000139http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0000139
GO_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GO_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GO_componentGO:0070062http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0070062
GO_functionGO:0004871http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871
GO_functionGO:0042802http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042802
GO_processGO:0043123http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043123
GO_processGO:0048208http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0048208
GOslim_componentGO:0005575http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005575
GOslim_componentGO:0005737http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005737
GOslim_componentGO:0005829http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005829
GOslim_componentGO:0043226http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0043226
GOslim_functionGO:0003674http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0003674
GOslim_functionGO:0004871http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0004871
GOslim_processGO:0006461http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0006461
GOslim_processGO:0008150http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0008150
GeneCardsTFGhttp://www.genecards.org/cgi-bin/carddisp.pl?gc_id=TFG
GeneID10342http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10342
GeneTreeENSGT00510000047809http://asia.ensembl.org/Multi/GeneTree/Image?gt=ENSGT00510000047809
H-InvDBHIX0003505http://h-invitational.jp/hinv/spsoup/locus_view?hix_id=HIX0003505
HGNCHGNC:11758http://www.genenames.org/data/hgnc_data.php?hgnc_id=HGNC:11758
HOGENOMHOG000132915http://pbil.univ-lyon1.fr/cgi-bin/view-tree.pl?query=HOG000132915&db=HOGENOM6
HOVERGENHBG009087http://pbil.univ-lyon1.fr/cgi-bin/acnuc-ac2tree?query=HBG009087&db=HOVERGEN
HPAHPA019473http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA019473
HPAHPA052206http://www.proteinatlas.org/tissue_profile.php?antibody_id=HPA052206
InParanoidQ92734http://inparanoid.sbc.su.se/cgi-bin/gene_search.cgi?id=Q92734
IntActQ92734http://www.ebi.ac.uk/intact/pages/interactions/interactions.xhtml?query=Q92734*
InterProIPR000270http://www.ebi.ac.uk/interpro/entry/IPR000270
InterProIPR033512http://www.ebi.ac.uk/interpro/entry/IPR033512
Jabion10342http://www.bioportal.jp/genome/cgi-bin/gene_homolog.cgi?org=hs&id=10342
KEGG_Briteko00001http://www.genome.jp/dbget-bin/www_bget?ko00001
KEGG_DiseaseH00014http://www.genome.jp/dbget-bin/www_bget?H00014
KEGG_DiseaseH00032http://www.genome.jp/dbget-bin/www_bget?H00032
KEGG_Genehsa:10342http://www.genome.jp/dbget-bin/www_bget?hsa:10342
KEGG_OrthologyKO:K09292http://www.genome.jp/dbget-bin/www_bget?KO:K09292
KEGG_Pathwayko05200http://www.genome.jp/kegg-bin/show_pathway?ko05200
KEGG_Pathwayko05216http://www.genome.jp/kegg-bin/show_pathway?ko05216
MIM602498http://www.ncbi.nlm.nih.gov/omim/602498
MIM604484http://www.ncbi.nlm.nih.gov/omim/604484
MIM615658