EPAS1 endothelial PAS domain protein 1 [Homo sapiens (human)]
| Gene Symbol | EPAS1 |
| Entrez Gene ID | 2034 |
| Full Name | endothelial PAS domain protein 1 |
| Synonyms | ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
2 2p21-p16 |
| 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]. |
| Disorder | MIM: 603349 Erythrocytosis, familial, 4, 611783 (3) |
| mRNA | NM_001430, 262527236 |
| Protein | NP_001421, 40254439 |
| Product | endothelial PAS domain-containing protein 1 |
| RefSeq Status | REVIEWED |
| hsa05211 | Renal cell carcinoma |
| hsa05200 | Pathways in cancer |
WikiPathways
| WP236 | Adipogenesis |
Pathway Interaction Database
| hif2pathway | HIF-2-alpha transcription factor network |
| vegfr1_2_pathway | Signaling events mediated by VEGFR1 and VEGFR2 |
| Homo sapiens (human) | EPAS1 | NP_001421.2 |
| Pan troglodytes (chimpanzee) | EPAS1 | XP_001147219.1 |
| Canis lupus familiaris (dog) | EPAS1 | XP_531807.2 |
| Bos taurus (cattle) | EPAS1 | NP_777150.1 |
| Mus musculus (house mouse) | Epas1 | NP_034267.2 |
| Rattus norvegicus (Norway rat) | Epas1 | NP_075578.1 |
| Gallus gallus (chicken) | EPAS1 | NP_990138.1 |
| Danio rerio (zebrafish) | epas1b | NP_001034895.1 |
| ID | Name | Evidence |
| GO:0001525 | angiogenesis | IEA |
| GO:0001666 | response to hypoxia | IDA |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
| GO:0006366 | transcription from RNA polymerase II promoter | TAS |
| GO:0007165 | signal transduction | TAS |
| GO:0007275 | multicellular organismal development | IEA |
| GO:0030154 | cell differentiation | IEA |
| GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | IGI |
| GO:0048625 | myoblast cell fate commitment | ISS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005667 | transcription factor complex | IDA |
| GO:0005667 | transcription factor complex | IPI |
| GO:0005737 | cytoplasm | IEA |
Function
| ID | Name | Evidence |
| GO:0003677 | DNA binding | IGI |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | IEA |
| GO:0003705 | sequence-specific enhancer binding RNA polymerase II transcription factor activity | TAS |
| GO:0003713 | transcription coactivator activity | TAS |
| GO:0004871 | signal transducer activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | IPI |
| GO:0035035 | histone acetyltransferase binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0046982 | protein heterodimerization activity | IPI |
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