ENSG00000116016


Homo sapiens

Features
Gene ID: ENSG00000116016
  
Biological name :EPAS1
  
Synonyms : endothelial PAS domain protein 1 / EPAS1 / Q99814
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p21
Gene start: 46293667
Gene end: 46386703
  
Corresponding Affymetrix probe sets: 200878_at (Human Genome U133 Plus 2.0 Array)   200879_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000263734
Ensembl peptide - ENSP00000406137
NCBI entrez gene - 2034     See in Manteia.
OMIM - 603349
RefSeq - NM_001430
RefSeq - XM_011532698
RefSeq Peptide - NP_001421
swissprot - C9J9N2
swissprot - Q99814
Ensembl - ENSG00000116016
  
Related genetic diseases (OMIM): 611783 - Erythrocytosis, familial, 4, 611783

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 epas1aENSDARG00000008697Danio rerio
 epas1bENSDARG00000057671Danio rerio
 EPAS1ENSGALG00000010005Gallus gallus
 Epas1ENSMUSG00000024140Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HIF1A / Q16665 / hypoxia inducible factor 1 alpha subunitENSG0000010064445
HIF3A / Q9Y2N7 / hypoxia inducible factor 3 alpha subunitENSG0000012444031
NPAS3 / Q8IXF0 / neuronal PAS domain protein 3ENSG0000015132221
SIM1 / P81133 / single-minded family bHLH transcription factor 1ENSG0000011224620
SIM2 / Q14190 / single-minded family bHLH transcription factor 2ENSG0000015926320
NPAS1 / Q99742 / neuronal PAS domain protein 1ENSG0000013075117
CLOCK / O15516 / clock circadian regulatorENSG0000013485216
ARNT / P27540 / aryl hydrocarbon receptor nuclear translocatorENSG0000014343716
ARNT2 / Q9HBZ2 / aryl hydrocarbon receptor nuclear translocator 2ENSG0000017237915
NPAS2 / Q99743 / neuronal PAS domain protein 2ENSG0000017048515
ARNTL / O00327 / aryl hydrocarbon receptor nuclear translocator likeENSG0000013379413
ARNTL2 / Q8WYA1 / aryl hydrocarbon receptor nuclear translocator like 2ENSG0000002915313


Protein motifs (from Interpro)
Interpro ID Name
 IPR000014  PAS domain
 IPR001067  Nuclear translocator
 IPR001610  PAC motif
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR013655  PAS fold-3
 IPR013767  PAS fold
 IPR014887  HIF-1 alpha, transactivation domain, C-terminal
 IPR021537  Hypoxia-inducible factor, alpha subunit
 IPR035965  PAS domain superfamily
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001892 embryonic placenta development IEA
 biological_processGO:0001974 blood vessel remodeling IEA
 biological_processGO:0002027 regulation of heart rate IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007005 mitochondrion organization IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0030097 hemopoiesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030218 erythrocyte differentiation IEA
 biological_processGO:0030324 lung development IEA
 biological_processGO:0035019 somatic stem cell population maintenance TAS
 biological_processGO:0042415 norepinephrine metabolic process IEA
 biological_processGO:0043129 surfactant homeostasis IEA
 biological_processGO:0043619 regulation of transcription from RNA polymerase II promoter in response to oxidative stress IEA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048469 cell maturation IEA
 biological_processGO:0048625 myoblast fate commitment IEA
 biological_processGO:0055072 iron ion homeostasis IEA
 biological_processGO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
 biological_processGO:0071456 cellular response to hypoxia IDA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IPI
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016607 nuclear speck IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IGI
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0035035 histone acetyltransferase binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
Regulation of gene expression by Hypoxia-inducible Factor
Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Transcriptional regulation of pluripotent stem cells
PTK6 Expression
Neddylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001899 Increased hematocrit 
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 HP:0001900 Increased hemoglobin 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / complex / reaction
 ENSG00000113580 NR3C1 / P04150 / nuclear receptor subfamily 3 group C member 1  / complex / reaction
 ENSG00000131508 P62837 / UBE2D2 / ubiquitin conjugating enzyme E2 D2  / reaction
 ENSG00000129521 EGLN3 / Q9H6Z9 / egl-9 family hypoxia inducible factor 3  / complex / reaction
 ENSG00000103363 ELOB / Q15370 / elongin B  / reaction / complex
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / complex
 ENSG00000134086 VHL / P40337 / von Hippel-Lindau tumor suppressor  / complex / reaction
 ENSG00000108094 CUL2 / Q13617 / cullin 2  / complex / reaction
 ENSG00000072401 P51668 / UBE2D1 / ubiquitin conjugating enzyme E2 D1  / reaction
 ENSG00000154582 ELOC / Q15369 / elongin C  / complex / reaction
 ENSG00000109332 P61077 / UBE2D3 / ubiquitin conjugating enzyme E2 D3  / reaction
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex
 ENSG00000141456 PELP1 / Q8IZL8 / proline, glutamate and leucine rich protein 1  / reaction / complex
 ENSG00000269858 EGLN2 / Q96KS0 / egl-9 family hypoxia inducible factor 2  / reaction
 ENSG00000166135 HIF1AN / Q9NWT6 / hypoxia inducible factor 1 alpha subunit inhibitor  / reaction
 ENSG00000144791 LIMD1 / Q9UGP4 / LIM domains containing 1  / reaction / complex
 ENSG00000143437 ARNT / P27540 / aryl hydrocarbon receptor nuclear translocator  / complex / reaction
 ENSG00000135766 EGLN1 / Q9GZT9 / egl-9 family hypoxia inducible factor 1  / reaction / complex






 

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