EPAS1

EPAS1

Target · Hypoxia-inducible transcription factor

EPAS1 Endothelial PAS domain protein 1 · HIF2A

EPAS1 (endothelial PAS domain protein 1) is a transcription factor that drives the induction of oxygen-regulated genes. It is also known as HIF2A, MOP2, PASD2, HLF and bHLHe73, and belongs to the hypoxia inducible factor subunits. Browse Assay Genie's current range of EPAS1 research reagents below, or read on for the biology behind the target.

Nuclear transcription factorHypoxia-inducible factor subunitLinked to erythrocytosis type 4
870 aa
Protein length
~96 kDa
Molecular weight
2p21
Gene locus
bHLH-PAS
Protein family
Target information

What is EPAS1 (endothelial PAS domain protein 1)?

EPAS1 is a transcription factor involved in the induction of genes regulated by oxygen, and it is induced as oxygen levels fall. It heterodimerises with ARNT, and the heterodimer binds the core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) in the promoters of target genes. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with the redox regulatory protein APEX1 seems to activate the C-terminal transactivation domain (CTAD).

The EPAS1 gene encodes a protein with a basic helix-loop-helix domain, which mediates dimerisation, and a PAS domain, a motif found in signal transduction proteins that respond to oxygen levels. HGNC places it in the basic helix-loop-helix proteins, the PAS domain containing proteins and the hypoxia inducible factor subunits. The protein localises to the nucleus, including nuclear speckles. Orthologous Epas1 genes are annotated in mouse and rat.

Among its targets, EPAS1 regulates vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of the lung. It may also play a role in forming the endothelium that gives rise to the blood brain barrier, and it is a potent activator of Tie-2 tyrosine kinase expression. Mutations in the EPAS1 gene are associated with erythrocytosis, familial, type 4. The alias HIF2A reflects its role as a hypoxia-inducible factor alpha-type subunit.

Hypoxia signalling

EPAS1 induces oxygen-regulated genes as oxygen levels fall, making it a central subject in studies of cellular responses to hypoxia.

Angiogenesis and vascular biology

EPAS1 regulates VEGF and Tie-2 expression and seems to contribute to blood vessel development, so it is studied in endothelial and vascular research.

Lung and barrier development

EPAS1 seems to be implicated in development of the tubular system of the lung and may contribute to blood brain barrier endothelium.

Erythrocytosis genetics

Mutations in the EPAS1 gene are associated with familial erythrocytosis type 4, linking this transcription factor to inherited disorders of red cell mass.

Background

EPAS1 frequently asked questions

What does EPAS1 do?

EPAS1 is a nuclear transcription factor that induces oxygen-regulated genes. It heterodimerises with ARNT and binds the hypoxia response element (5'-TACGTG-3') in target promoters, recruiting coactivators such as CREBBP. It regulates VEGF and Tie-2 expression and is implicated in blood vessel development.

What other names is EPAS1 known by?

EPAS1 is the HGNC symbol for endothelial PAS domain protein 1. Aliases include HIF2A, MOP2, PASD2, HLF and bHLHe73. UniProt lists the protein as endothelial PAS domain-containing protein 1. Searching under any of these names should locate the same gene and protein.

Is EPAS1 linked to disease or conserved in other species?

Mutations in the EPAS1 gene are associated with erythrocytosis, familial, type 4. Orthologues named Epas1 are annotated in both mouse and rat, so rodent models can be used in its study. Check the datasheet of any product for its validated reactivity.

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Related targets

Hypoxia-inducible factor subunits, heterodimer partners, coactivators and downstream angiogenic targets of EPAS1 with products at Assay Genie.

Gene and protein annotations from HGNC, NCBI Gene and UniProt Q99814; product specifications from Assay Genie datasheets.

EPAS1 Product listing