GeneID: 158

Description:
EGLN1 functions as an upstream regulator in the hypoxia-inducible factor (HIF) pathway, which plays a central role in the adaptation of cells to low oxygen supply. HIFs upregulate expression of hypoxy-inducible genes involved in several pathways, including erythropoiesis, angiogenesis and metabolism. The encoded protein, prolyl hydroxylase domain-containing protein-2 (PHD2), catalyzes the posttranslational modification of HIFs and targets their proteasomal degradation via the von Hippel-Lindau ubiquitination complex under normoxic conditions. Polymoprhisms in the EGLN1 gene associated with reduced haemoglobin levels in populations living at high altitudes, likely through their transcriptional regulation of erythropoietin or red blood cell production.

Synonyms: HIFPH2 , C1orf12 , PHD2 , SM-20 , ZMYND6

Comments:
N/A

Number of entries/variants: 1

1. Yasumoto K, Kowata Y, Yoshida A, Torii S, Sogawa K, Role of the intracellular localization of HIF-prolyl hydroxylases., Biochim. Biophys. Acta , 1793(5), 792-7, 2009
2. Beall CM, Cavalleri GL, Deng L, Elston RC, Gao Y, Knight J, Li C, Li JC, Liang Y, McCormack M, Montgomery HE, Pan H, Robbins PA, Shianna KV, Tam SC, Tsering N, Veeramah KR, Wang W, Wangdui P, Weale ME, Xu Y, Xu Z, Yang L, Zaman MJ, Zeng C, Zhang L, Zhang X, Zhaxi P, Zheng YT, Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders., Proc. Natl. Acad. Sci. U.S.A. , 107(25), 11459-64, 2010
3. Xiang K, Ouzhuluobu , Peng Y, Yang Z, Zhang X, Cui C, Zhang H, Li M, Zhang Y, Bianba , Gonggalanzi , Basang , Ciwangsangbu , Wu T, Chen H, Shi H, Qi X, Su B, Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation., Mol. Biol. Evol. , 30(8), 1889-98, 2013