EPAS1


Summary: This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
endothelial PAS domain protein 1MIM:603349Ensembl:ENSG00000116016HGNC:HGNC:3374PA278092p21

GO terms in EPAS1


Term TypeEvidence TypeGO Term IDGO Des.
CCIBAGO:0005634nucleus
CCTASGO:0005654nucleoplasm
CCIDAGO:0005667transcription factor complex
CCIPIGO:0005667transcription factor complex
CCTASGO:0005829cytosol
CCIEAGO:0016607nuclear speck
BPIEAGO:0001525angiogenesis
BPIDAGO:0001666response to hypoxia
BPIEAGO:0001892embryonic placenta development
BPIEAGO:0001974blood vessel remodeling
BPIEAGO:0002027regulation of heart rate
BPIBAGO:0006357regulation of transcription by RNA polymerase II
BPTASGO:0006366transcription by RNA polymerase II
BPIEAGO:0007005mitochondrion organization
BPTASGO:0007165signal transduction
BPIEAGO:0007601visual perception
BPIEAGO:0030218erythrocyte differentiation
BPIEAGO:0030324lung development
BPIEAGO:0042415norepinephrine metabolic process
BPIEAGO:0043129surfactant homeostasis
BPIEAGO:0043619regulation of transcription from RNA polymerase II promoter in response to oxidative stress
BPTASGO:0043687post-translational protein modification
BPIBAGO:0045944positive regulation of transcription by RNA polymerase II
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
BPIGIGO:0045944positive regulation of transcription by RNA polymerase II
BPIEAGO:0048469cell maturation
BPISSGO:0048625myoblast fate commitment
BPIEAGO:0055072iron ion homeostasis
BPTASGO:0061418regulation of transcription from RNA polymerase II promoter in response to hypoxia
BPIDAGO:0071456cellular response to hypoxia
MFIBAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIEAGO:0001077transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding
MFIGIGO:0003677DNA binding
MFIPIGO:0005515protein binding
MFIPIGO:0008134transcription factor binding
MFIPIGO:0035035histone acetyltransferase binding
MFIDAGO:0043565sequence-specific DNA binding
MFIDAGO:0046982protein heterodimerization activity
MFIPIGO:0046982protein heterodimerization activity

Gene expression in normal tissue: EPAS1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in EPAS1


DatabasePathway IDPathway Des.
kegghsa05200Pathways in cancer - Homo sapiens (human)
kegghsa05211Renal cell carcinoma - Homo sapiens (human)
pidhif2pathwayHIF-2-alpha transcription factor network
wikipathwaysWP236Adipogenesis
wikipathwaysWP2821Transcriptional regulation of pluripotent stem cells
wikipathwaysWP3678Amplification and Expansion of Oncogenic Pathways as Metastatic Traits
wikipathwaysWP3932Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
wikipathwaysWP4241Type 2 papillary renal cell carcinoma
reactomeR-HSA-1234158Regulation of gene expression by Hypoxia-inducible Factor
reactomeR-HSA-1234162Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha
reactomeR-HSA-1234174Regulation of Hypoxia-inducible Factor (HIF) by oxygen
reactomeR-HSA-1234174Regulation of Hypoxia-inducible Factor (HIF) by oxygen
reactomeR-HSA-1234176Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
reactomeR-HSA-1234176Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-2262749Cellular response to hypoxia
reactomeR-HSA-2262749Cellular response to hypoxia
reactomeR-HSA-2262752Cellular responses to stress
reactomeR-HSA-2262752Cellular responses to stress
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-452723Transcriptional regulation of pluripotent stem cells
reactomeR-HSA-597592Post-translational protein modification
reactomeR-HSA-8848021Signaling by PTK6
reactomeR-HSA-8849473PTK6 Expression
reactomeR-HSA-8951664Neddylation
reactomeR-HSA-8953897Cellular responses to external stimuli
reactomeR-HSA-8953897Cellular responses to external stimuli
reactomeR-HSA-9006927Signaling by Non-Receptor Tyrosine Kinases

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD397Pazopanib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in EPAS1

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