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onsdag 30 juli 2025

HIF1A, HIF3A ja EPAS1

 HIF1A

 https://www.genecards.org/Search/Keyword?queryString=HIF1A

 This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]

 HIF3A

 https://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF3A&keywords=HIF3A

 The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]

 

HIF2A = EPAS1, 2p21

https://www.genecards.org/cgi-bin/carddisp.pl?gene=EPAS1&keywords=HIF2A 

Aliases for EPAS1 Gene

  • GeneCards Symbol: EPAS1 2
  • Endothelial PAS Domain Protein 1 2 3 5
  • BHLHe73 2 3 4 5
  • PASD2 2 3 4 5
  • HIF2A 2 3 4 5
  • MOP2 2 3 4 5
  • HLF 2 3 4 5
  • Endothelial PAS Domain-Containing Protein 1 3 4
  • Class E Basic Helix-Loop-Helix Protein 73 3 4
  • Basic-Helix-Loop-Helix-PAS Protein MOP2 3 4
  • PAS Domain-Containing Protein 2 3 4
  • HIF-1-Alpha-Like Factor 3 4
  • Member Of PAS Protein 2 3 4
  • HIF-2-Alpha 3 4
  • HIF2-Alpha 3 4
  • EPAS-1 3 4
  • Hypoxia-Inducible Factor 2 Alpha 3
  • Hypoxia-Inducible Factor 2-Alpha 4
  • HIF-1 Alpha-Like Factor 2
  • HIF-1alpha-Like Factor 3
  • BHLHE73 4
  • ECYT4 3
  •  Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). 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 requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX1 seems to activate CTAD (By similarity). ( EPAS1_HUMAN,Q99814 )

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