Endothelial PAS Domain-Containing Protein 1 (EPAS1) ELISA Kit for 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]

HIF2A: Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) of target gene promoters. Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation seems to require recruitment of transcriptional coactivators such as CREBPB and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD. Efficient DNA binding requires dimerization with another bHLH protein. Heterodimerizes with ARNT. Interacts with CREBBP. Interacts with EGLN1. Interacts with VHL. Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively expressed in endothelial cells.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 2p21-p16

Cellular Component: cytosol; nuclear speck; nucleoplasm; transcription factor complex

Molecular Function: DNA binding; histone acetyltransferase binding; protein binding; protein heterodimerization activity; sequence-specific DNA binding; transcription factor binding

Biological Process: angiogenesis; blood vessel remodeling; cell maturation; embryonic placenta development; erythrocyte differentiation; iron ion homeostasis; lung development; mitochondrion organization and biogenesis; myoblast cell fate commitment; norepinephrine metabolic process; positive regulation of transcription from RNA polymerase II promoter; regulation of heart rate; regulation of transcription from RNA polymerase II promoter in response to oxidative stress; response to hypoxia; signal transduction; somatic stem cell maintenance; surfactant homeostasis; transcription from RNA polymerase II promoter; visual perception

Disease: Erythrocytosis, Familial, 4