EPAS1

Also known as ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73, endothelial PAS domain protein 1, Hypoxia-inducible factor-2alpha

Endothelial PAS domain-containing protein 1 (EPAS1, also known as hypoxia-inducible factor-2alpha (HIF-2α)) is a protein that is encoded by the EPAS1 gene in mammals. It is a type of hypoxia-inducible factor, a group of transcription factors involved in the physiological response to oxygen concentration. The gene is active under hypoxic conditions. It is also important in the development of the heart, and for maintaining the catecholamine balance required for protection of the heart. Mutation often leads to neuroendocrine tumors.

Gene data

EPAS1

Name: endothelial PAS domain protein 1
Type: protein-coding
Position: 46,293,667–46,386,697 (+)
Aliases: ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73
Ensembl: ENSG00000116016
RefSeq RNA: NM_001430.5, XM_011532698.3, XM_054341015.1
RefSeq protein: NP_001421.2, XP_011531000.1, XP_054196990.1

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].

Gene Ontology

Biological process

angiogenesis response to hypoxia blood vessel remodeling regulation of DNA-templated transcription regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II signal transduction erythrocyte differentiation

Molecular function

RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific cis-regulatory region sequence-specific DNA binding transcription coactivator binding transcription coactivator binding

Cellular component

chromatin nucleus nucleus nucleoplasm nucleoplasm transcription regulator complex transcription regulator complex transcription regulator complex

Pathways

Pathways in cancer - Homo sapiens (human)Renal cell carcinoma - Homo sapiens (human)Regulation of gene expression by Hypoxia-inducible Factor Cellular response to hypoxia Cellular response to hypoxia Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Developmental Biology Adaptive Immune System Signal Transduction

via MyGene.info

Gene · Ensembl

endothelial PAS domain protein 1

Symbol: EPAS1
Biotype: Protein coding
Organism: Homo sapiens
Location: 2:46,293,667-46,386,702
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: Protein EPAS1 PDB 1p97.png

Show 6 more facts

HomoloGene ID: 1095
exact match: identifiers.org/ncbigene/2034
genomic end: 46386697
genomic start: 46520806
cytogenetic location: 2p21
Commons category: EPAS1

Sources (6)

via Wikidata · CC0

~5 min read

Article

7 sections

Contents

Function
Alleles
Clinical significance
Interactions
References
Further reading
External links

However, several characterized alleles of EPAS1 contribute to high-altitude adaptation in humans. One such allele, which has been inherited from Denisovan archaic hominins, is known to confer increased athletic performance in some people, and has therefore been referred to as the "super athlete gene".