HIF1A Chromosome 14
Hypoxia inducible factor 1 subunit alpha
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What This Gene Does
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 Info
Gene Group
"Basic helix-loop-helix proteins|PAS domain containing"
Locus Type
gene with protein product
Location
14q23.2
Ensembl
ENSG00000100644
Associated Conditions (3)
Cholangiocarcinoma
Enchondromatosis
Maffucci syndrome
Key Variants
RS11549465
Conflicting classifications of pathogenicity
Cholangiocarcinoma, Cholangiocarcinoma
Health Risk
RS11549467
Conflicting classifications of pathogenicity
Health Risk
RS149348765
Conflicting classifications of pathogenicity
Enchondromatosis, Enchondromatosis
Health Risk
RS61755705
Conflicting classifications of pathogenicity
Maffucci syndrome, Maffucci syndrome
Health Risk
RS199752292
Likely pathogenic
Enchondromatosis, Enchondromatosis
Health Risk
RS2044704486
Likely pathogenic
Maffucci syndrome, Maffucci syndrome
Health Risk
RS2503132758
Likely pathogenic
Enchondromatosis, Enchondromatosis
Health Risk
RS2503149952
Likely pathogenic
Maffucci syndrome, Maffucci syndrome
Health Risk
RS2503156139
Likely pathogenic
Enchondromatosis, Enchondromatosis
Health Risk
RS2044427387
Pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11549465 | Health Risk | Conflicting classifications of pathogenicity | Cholangiocarcinoma, Cholangiocarcinoma |
| RS11549467 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149348765 | Health Risk | Conflicting classifications of pathogenicity | Enchondromatosis, Enchondromatosis |
| RS61755705 | Health Risk | Conflicting classifications of pathogenicity | Maffucci syndrome, Maffucci syndrome |
| RS199752292 | Health Risk | Likely pathogenic | Enchondromatosis, Enchondromatosis |
| RS2044704486 | Health Risk | Likely pathogenic | Maffucci syndrome, Maffucci syndrome |
| RS2503132758 | Health Risk | Likely pathogenic | Enchondromatosis, Enchondromatosis |
| RS2503149952 | Health Risk | Likely pathogenic | Maffucci syndrome, Maffucci syndrome |
| RS2503156139 | Health Risk | Likely pathogenic | Enchondromatosis, Enchondromatosis |
| RS2044427387 | Health Risk | Pathogenic | — |