EPAS1 : endothelial PAS domain protein 1
Description
The EPAS1 (endothelial PAS domain protein 1) is a protein-coding gene located on chromosome 2.
The EPAS1 gene, also known as HIF2A, provides instructions for making a protein called hypoxia-inducible factor 2-alpha (HIF-2α). This protein is a part of a larger protein complex called HIF, which is essential for adapting to changing oxygen levels. HIF controls genes involved in cell division, blood vessel formation, and red blood cell production. It is a key regulator of erythropoietin, a hormone that controls red blood cell production. HIF-2α is constantly produced but is broken down when oxygen levels are normal. In low oxygen conditions, HIF-2α breaks down more slowly, leading to increased HIF activity. This stimulates blood vessel formation and red blood cell production, maximizing oxygen delivery to tissues. The EPAS1 gene is involved in adapting to high altitudes, where lower air pressure results in less oxygen entering the lungs. The body compensates by adjusting breathing and producing more red blood cells and blood vessels.
EPAS1, also known as HIF2A, is a transcription factor involved in regulating genes in response to oxygen levels. It forms a complex with another protein, ARNT, and binds to specific DNA sequences called hypoxia response elements (HREs) within the promoters of target genes. This binding activates the expression of these genes. EPAS1 plays a crucial role in the regulation of vascular endothelial growth factor (VEGF) expression, which is essential for blood vessel development and growth. It also contributes to the formation of the lung's tubular system and may be involved in the development of the blood-brain barrier. EPAS1's activity is enhanced by the recruitment of coactivator proteins like CREBBP and potentially EP300. The interaction with the redox regulatory protein APEX1 appears to activate CTAD (cytokine-tumor necrosis factor alpha-induced death domain).
EPAS1 is also known as ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73.
