Protein Name egl-9 family hypoxia inducible factor 1
Organism Homo sapiens
Gene ID 54583
Gene Symbol

EGLN1

UniProt Q9GZT9 (EGLN1_HUMAN), R4SCQ0 (R4SCQ0_HUMAN)
Relationships Total Number of functionally related compound(s) : 159
Total Number of Articles : 234
Description

egl-9 family hypoxia inducible factor 1

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, Nov 2009]

synonyms
  • egl nine homolog 1
  • HIF-prolyl hydroxylase 2
  • egl nine-like protein 1
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Properties