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 (hemoglobin deoxygenation). It is an important component of cells’ ability to sense and adapt to hypoxic conditions. In low oxygen conditions, HIF1 accumulates in many tissues and 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. Furthermore, CRISPR–Cas9 screens for ubiquitin-proteasome components that regulate fetal hemoglobin (HbF) expression identified HIF1 as a target molecule that is involved in the activation of fetal γ-globin genes and HbF induction. HIF1α-HIF1β heterodimers bind BGLT3 [GeneID: 451], a long noncoding RNA gene located 2.7 kb downstream of the γ-globin genes, which is followed by the recruitment of transcriptional activators, chromatin opening and increased long-range interactions between the γ-globin genes and their upstream enhancer. The polymerization of sickle hemoglobin upon deoxygenation triggers the sickling of red blood cells in sickle cell anemia (SCA). HbF prevents sickle hemoglobin polymerization. There is evidence of increased HIF1 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

Number of entries/variants: 0

IthaScore

Publications / Origin

  1. 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
  2. Feng R, Mayuranathan T, Huang P, Doerfler PA, Li Y, Yao Y, Zhang J, Palmer LE, Mayberry K, Christakopoulos GE, Xu P, Li C, Cheng Y, Blobel GA, Simon MC, Weiss MJ, Activation of γ-globin expression by hypoxia-inducible factor 1α., Nature, 610(7933), 783-790, 2022
  3. Eccleston A, HIF1α reboots fetal haemoglobin production., Nat Rev Drug Discov, 2022
Created on 2020-06-26 12:51:32, Last reviewed on 2022-11-22 17:27:21 (Show full history)


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