EGLN1

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]

Description

egl-9 family hypoxia inducible factor 1

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

1:q42.2 (231363751 - 231422287)

Ensembl ID

ENSG00000135766  (ver. 99.38)

Orthologs

Mouse Egln1: ENSMUSG00000031987

UniProt

Q9GZT9

neXtProt

NX_Q9GZT9

Human splice variants
Mouse splice variants