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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| endothelial PAS domain protein 1 | MIM:603349 | Ensembl:ENSG00000116016 | HGNC:HGNC:3374 | PA27809 | 2p21 |
GO terms in EPAS1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005667 | transcription factor complex |
| CC | IPI | GO:0005667 | transcription factor complex |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0016607 | nuclear speck |
| BP | IEA | GO:0001525 | angiogenesis |
| BP | IDA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0001892 | embryonic placenta development |
| BP | IEA | GO:0001974 | blood vessel remodeling |
| BP | IEA | GO:0002027 | regulation of heart rate |
| BP | IBA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0007005 | mitochondrion organization |
| BP | TAS | GO:0007165 | signal transduction |
| BP | IEA | GO:0007601 | visual perception |
| BP | IEA | GO:0030218 | erythrocyte differentiation |
| BP | IEA | GO:0030324 | lung development |
| BP | IEA | GO:0042415 | norepinephrine metabolic process |
| BP | IEA | GO:0043129 | surfactant homeostasis |
| BP | IEA | GO:0043619 | regulation of transcription from RNA polymerase II promoter in response to oxidative stress |
| BP | TAS | GO:0043687 | post-translational protein modification |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IGI | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048469 | cell maturation |
| BP | ISS | GO:0048625 | myoblast fate commitment |
| BP | IEA | GO:0055072 | iron ion homeostasis |
| BP | TAS | GO:0061418 | regulation of transcription from RNA polymerase II promoter in response to hypoxia |
| BP | IDA | GO:0071456 | cellular response to hypoxia |
| MF | IBA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IGI | GO:0003677 | DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | IPI | GO:0035035 | histone acetyltransferase binding |
| MF | IDA | GO:0043565 | sequence-specific DNA binding |
| MF | IDA | GO:0046982 | protein heterodimerization activity |
| MF | IPI | GO:0046982 | protein heterodimerization activity |
Gene expression in normal tissue: EPAS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EPAS1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05211 | Renal cell carcinoma - Homo sapiens (human) |
| pid | hif2pathway | HIF-2-alpha transcription factor network |
| wikipathways | WP236 | Adipogenesis |
| wikipathways | WP2821 | Transcriptional regulation of pluripotent stem cells |
| wikipathways | WP3678 | Amplification and Expansion of Oncogenic Pathways as Metastatic Traits |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4241 | Type 2 papillary renal cell carcinoma |
| reactome | R-HSA-1234158 | Regulation of gene expression by Hypoxia-inducible Factor |
| reactome | R-HSA-1234162 | Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha |
| reactome | R-HSA-1234174 | Regulation of Hypoxia-inducible Factor (HIF) by oxygen |
| reactome | R-HSA-1234174 | Regulation of Hypoxia-inducible Factor (HIF) by oxygen |
| reactome | R-HSA-1234176 | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha |
| reactome | R-HSA-1234176 | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-2262749 | Cellular response to hypoxia |
| reactome | R-HSA-2262749 | Cellular response to hypoxia |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-452723 | Transcriptional regulation of pluripotent stem cells |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-8848021 | Signaling by PTK6 |
| reactome | R-HSA-8849473 | PTK6 Expression |
| reactome | R-HSA-8951664 | Neddylation |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| reactome | R-HSA-9006927 | Signaling by Non-Receptor Tyrosine Kinases |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EPAS1
CLASSFICATION
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