GeneID: 381
Names
Common Name: | HIF1A | Type: | Gene |
---|---|---|---|
Chromosome: | 14 (NC_000014.9) | Locus: | NG_029606.1 (HIF1A) |
HUGO Symbol: | HIF1A | Full Name: | hypoxia inducible factor 1 subunit alpha |
Exons: | 15 | Introns: | 14 |
Description:
Hypoxia-inducible factor-1 (HIF1) is a transcription factor with key roles in cellular and systemic homeostatic responses to hypoxia (haemoglobin deoxygenation). It activates the 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. The polymerization of sickle haemoglobin upon deoxygenation triggers the sickling of red blood cells in sickle cell anaemia (SCA). There is evidence of increased HIF1A gene expression in patients with SCA, as well as an inverse dose-response relationship with hydroxyurea therapy, suggesting that hypoxia may be involved in both the severity and treatment of SCA.
Synonyms: HIF1 , MOP1 , PASD8 , HIF-1A , bHLHe78 , HIF-1alpha , HIF1-ALPHA , HIF-1-alpha
Comments:
N/A
Sequence Viewer
Publications / Origin
- Pedrosa AM, Lemes RPG, Gene expression of HIF-1α and VEGF in response to hypoxia in sickle cell anaemia: Influence of hydroxycarbamide., Br. J. Haematol., 2020 PubMed
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2020-06-26 12:51:32 | The IthaGenes Curation Team | Created |
2 | 2020-06-26 12:53:14 | The IthaGenes Curation Team | Reviewed. |