HIF1A

Also known as HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78

Hypoxia-inducible factor 1-alpha, also known as HIF-1-alpha, is a subunit of a heterodimeric transcription factor hypoxia-inducible factor 1 (HIF-1) that is encoded by the HIF1A gene. The Nobel Prize in Physiology or Medicine 2019 was awarded for the discovery of HIF.

Gene data

HIF1A

Name: hypoxia inducible factor 1 subunit alpha
Type: protein-coding
Position: 61,695,456–61,748,263 (+)
Aliases: HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78
Ensembl: ENSG00000100644
RefSeq RNA: NM_001243084.2, NM_001530.4, NM_181054.3
RefSeq protein: NP_001230013.1, NP_001521.1, NP_851397.1

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].

Gene Ontology

Biological process

~16 min read

Article

12 sections

Contents

Structure
Gene and expression
Function
Repair, regeneration and rejuvenation
Regulation
Role in cancer
Role in Stroke
Interactions
See also
References
Further reading
External links

HIF1A is a basic helix-loop-helix PAS domain containing protein, and is considered as the master transcriptional regulator of cellular and developmental response to hypoxia. The dysregulation and overexpression of HIF1A by either hypoxia or genetic alternations have been heavily implicated in cancer biology, as well as a number of other pathophysiologies, specifically in areas of vascularization and angiogenesis, energy metabolism, cell survival, and tumor invasion. The presence of HIF1A in a hypoxic environment is required to push forward normal placental development in early gestation. Two other alternative transcripts encoding different isoforms have been identified.