LongevityMap Gene

Gene details

HGNC symbol
HIF1A 
Aliases
HIF1; MOP1; PASD8; HIF-1A; bHLHe78; HIF-1alpha; HIF1-ALPHA; HIF-1-alpha 
Common name
hypoxia inducible factor 1 alpha subunit 
Description
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]
Cytogenetic Location
14q23.2
UCSC Genome Browser
View 14q23.2 on the UCSC genome browser
OMIM
603348
Ensembl
ENSG00000100644
UniProt/Swiss-Prot
D0VY79_HUMAN
Entrez Gene
3091
UniGene
597216
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
hif1ab
Mus musculus
Hif1a
Rattus norvegicus
Hif1a

In other databases

GenAge human genes
  • This gene is present as HIF1A

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
Dutch
Study Design
1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
Conclusions
As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
Indentifier
HIF1A
Reference