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 |
|
Properties | |