HIF-1 alpha

HIF-1 alpha

Target · Transcription factor

HIF-1 alpha Endothelial PAS domain-containing protein 1 · HIF2A

HIF-1 alpha, listed under the gene symbol EPAS1 (endothelial PAS domain protein 1; aliases MOP2, PASD2, HIF2A, HLF and bHLHe73), is an oxygen-regulated transcription factor. It heterodimerises with ARNT to bind hypoxia response elements and induce oxygen-regulated genes. Browse Assay Genie's current range of HIF-1 alpha research reagents below, or read on for the biology behind the target.

Nuclear transcription factorBinds hypoxia response elementsLinked to erythrocytosis type 4
870 aa
Protein length
~96 kDa
Molecular weight
2p21
Gene locus
bHLH-PAS</stat4_value> <parameter name="stat4_label">Protein family
Protein family
Target information

What is HIF-1 alpha (endothelial PAS domain protein 1)?

HIF-1 alpha is a transcription factor involved in the induction of oxygen-regulated genes. It heterodimerises with ARNT, and the heterodimer binds the core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters. Activation requires the recruitment of transcriptional coactivators such as CREBBP and probably EP300, and interaction with the redox regulatory protein APEX1 seems to activate the C-terminal transactivation domain (CTAD).

Among its target genes, the protein regulates vascular endothelial growth factor (VEGF) expression and is a potent activator of Tie-2 tyrosine kinase expression. It seems to be implicated in the development of blood vessels and the tubular system of the lung, and may also contribute to the formation of the endothelium that gives rise to the blood brain barrier. The NCBI Gene summary notes that the gene is induced as oxygen levels fall.

The HIF-1 alpha gene is recorded by HGNC as EPAS1, in the gene groups basic helix-loop-helix proteins, PAS domain containing, and hypoxia inducible factor subunits. The protein carries a basic helix-loop-helix dimerisation domain and a PAS domain, a motif found in signal transduction proteins that respond to oxygen levels. UniProt places it in the nucleus, including nuclear speckles. Orthologues are annotated in mouse and rat as Epas1. Mutations in the gene are associated with familial erythrocytosis type 4, which links the protein to the regulation of oxygen-responsive pathways in humans.

Hypoxia signalling

The protein is a transcription factor that induces oxygen-regulated genes through hypoxia response elements, making it central to studies of cellular responses to falling oxygen.

Angiogenesis and vascular biology

It regulates VEGF and Tie-2 expression and seems to be implicated in blood vessel development, so it is relevant to endothelial research.

Lung and blood brain barrier

Annotated roles in development of the lung tubular system and possibly the endothelium of the blood brain barrier support developmental studies.

Erythrocytosis genetics

Mutations in the gene are associated with familial erythrocytosis type 4, linking oxygen-sensing transcription factors to inherited disease.

Background

HIF-1 alpha frequently asked questions

What does HIF-1 alpha do?

It acts as a transcription factor that induces oxygen-regulated genes. It heterodimerises with ARNT, binds the 5'-TACGTG-3' core of hypoxia response elements, and recruits coactivators such as CREBBP and probably EP300. Targets include VEGF and Tie-2.

What other names does this gene go by?

The HGNC symbol is EPAS1, for endothelial PAS domain protein 1. Aliases are MOP2, PASD2, HIF2A, HLF and bHLHe73. UniProt names the protein endothelial PAS domain-containing protein 1. Check which name a given reagent description uses before comparing results.

Is the protein conserved and linked to disease?

Mouse and rat both carry an Epas1 orthologue. In humans, mutations in the gene are associated with familial erythrocytosis type 4. Check the datasheet of any product for its validated reactivity.

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Related targets

Heterodimer partners, coactivators and downstream targets in hypoxia signalling with products at Assay Genie.

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

HIF-1 alpha Product listing