EPAS1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | EPAS1 |
| Official Name | endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:HGNC:3374] |
| Ensembl ID | ENSG00000116016 |
| Bio databases IDs | |
| Aliases | endothelial PAS domain protein 1, HIF-1 alpha-like factor |
| Synonyms | bHLHe73, ECYT4, endothelial PAS domain protein 1, Hif1alpha related factor, Hif2, HIF2A, HIF-2 alpha, HIF-2 α, HLF, HRF, MOP2, PASD2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EPAS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription activation domain
- transcription factor binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- PAS B-subdomain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- Hypoxia-inducible factor-1
- DNA binding domain
- nucleic acid binding
- PAS
- basic Helix Loop Helix (bHLH) domain superfamily
- protein binding
- basic helix loop helix/Per Arnt Sim domain
- sequence-specific DNA binding
- PAS fold
- transition metal ion binding
- DNA binding
- N-terminal transactivation domain
- PAS domain
- double-stranded DNA binding
- prolyl hydroxylase domain
- helix loop helix domain
- oxygen-dependent degradation domain
- Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)
- CAD domain
- transcription factor activity
- protein heterodimerization
- HIF-1 alpha C terminal transactivation domain
Pathways
Biological processes and signaling networks where the EPAS1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- metastasis
- neoplasia
- infection by HIV-1
- mature T-cell neoplasia
- T-cell non-Hodgkin disease
- renal clear cell adenocarcinoma
- tumorigenesis
- familial erythrocytosis type 4
- polycystic kidney disease
role in cell
- cell death
- cell viability
- apoptosis
- molecular cleavage in
- expression in
- activation in
- growth
- migration
- proliferation
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPAS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- norepinephrine metabolic process
- mRNA transcription from RNA polymerase II promoter
- multicellular organismal iron ion homeostasis
- epithelial cell maturation
- signal transduction
- myoblast cell fate commitment
- positive regulation of transcription from RNA polymerase II promoter
- visual perception
- mitochondrion organization
- embryonic placenta development
- surfactant homeostasis
- regulation of transcription from RNA polymerase II promoter
- regulation of heart rate
- response to oxidative stress
- erythrocyte differentiation
- response to hypoxia
- blood vessel remodeling
- angiogenesis
- cellular response to hypoxia
- regulation of protein neddylation
- lung development
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nuclear speck
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein heterodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- transcription coactivator binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity