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

response to reactive oxygen species response to hypoxia response to hypoxia response to hypoxia intracellular glucose homeostasis epithelial to mesenchymal transition epithelial to mesenchymal transition positive regulation of endothelial cell proliferation

Molecular function

RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific

Cellular component

chromatin chromatin euchromatin nucleus nucleus nucleus nucleus nucleoplasm

Pathways

HIF-1 signaling pathway - Homo sapiens (human)Mitophagy - animal - Homo sapiens (human)Autophagy - animal - Homo sapiens (human)Th17 cell differentiation - Homo sapiens (human)Thyroid hormone signaling pathway - Homo sapiens (human)Kaposi sarcoma-associated herpesvirus infection - Homo sapiens (human)Pathways in cancer - Homo sapiens (human)Proteoglycans in cancer - Homo sapiens (human)Renal cell carcinoma - Homo sapiens (human)Central carbon metabolism in cancer - Homo sapiens (human)

via MyGene.info

Gene · Ensembl

hypoxia inducible factor 1 subunit alpha

Symbol: HIF1A
Biotype: Protein coding
Organism: Homo sapiens
Location: 14:61,695,357-61,748,529
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: Protein HIF1A PDB 1h2k.png

Show 5 more facts

HomoloGene ID: 1171
genomic end: 61748259
exact match: identifiers.org/ncbigene/3091
genomic start: 62162231
cytogenetic location: 14q23.2

Sources (6)

via Wikidata · CC0

~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.