Biology:HIF3A

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Hypoxia-inducible factor 3 alpha is a protein that in humans is encoded by the HIF3A gene.[1][2][3]

Function

The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. At least three transcript variants encoding three different isoforms have been found for this gene.[3]

In rats, it plays a negative role in the adaptation to hypoxia, because the inhibition of HIF-3α expression leads to an increase in physical endurance.[4]

Clinical significance

DNA methylation in the introns of HIF3A is associated with BMI an adiposity.[5]

See also

  • Hypoxia inducible factors

References

  1. "Expression and characterization of hypoxia-inducible factor (HIF)-3alpha in human kidney: suppression of HIF-mediated gene expression by HIF-3alpha". Biochem Biophys Res Commun 287 (4): 808–13. Sep 2001. doi:10.1006/bbrc.2001.5659. PMID 11573933. 
  2. "Inhibitory PAS domain protein is a negative regulator of hypoxia-inducible gene expression". Nature 414 (6863): 550–4. Dec 2001. doi:10.1038/35107085. PMID 11734856. Bibcode2001Natur.414..550M. 
  3. 3.0 3.1 "Entrez Gene: HIF3A hypoxia inducible factor 3, alpha subunit". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64344. 
  4. "HIF-3α mRNA expression changes in different tissues and their role in adaptation to intermittent hypoxia and physical exercise". Pathophysiology 19 (3): 205–14. 2012. doi:10.1016/j.pathophys.2012.06.002. PMID 22884965. 
  5. "DNA methylation and body-mass index: a genome-wide analysis.". Lancet 383 (9933): 1990–1998. 2014. doi:10.1016/S0140-6736(13)62674-4. PMID 24630777. 

Further reading