Entrez gene ID | | 54583 |
Official gene symbol | | EGLN1 |
Full name | | egl nine homolog 1 (C. elegans) |
Aliases | | ,C1orf12,DKFZp761F179,ECYT3,HIFPH2,HPH2,PHD2,SM20,ZMYND6, |
Gene summary | | The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q42.1 |
Gene position | | 231560790 - 231499497 Map Viewer |
Gene orientation | | minus |
Gene size | | 61294 bp |
Gene sequence |
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OMIM ID | | 606425 |
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