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
- Caenorhabditis elegans
- hif-1
- Danio rerio
- hif1ab
- Danio rerio
- hif1aa
- Drosophila melanogaster
- sima
- Mus musculus
- Hif1a
- Rattus norvegicus
- Hif1a
In other databases
- GenAge model organism genes
- A homolog of this gene for Caenorhabditis elegans is present as hif-1
- GenAge human genes
- This gene is present as HIF1A
- GenDR gene manipulations
- A homolog of this gene for Caenorhabditis elegans is present as hif-1
- CellAge
- 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