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Description for Protein EGLN1

egl nine homolog 1 (C. elegans)
8 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
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] (PubMed Links)
Domains and Motifs:
  • P4HC: Prolyl 4-hydroxylase alpha subunit homologues.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.14.11.-
    KEGG - Orthology:
    K09592
    KEGG - Pathway(s):
    hsa05200; hsa05211
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    PHD2; SM-20; ZMYND6; C1orf12; chromosome 1 open reading frame 12; Hypoxia-inducible factor prolyl hydroxylase 2; HIF-PH2; HPH-2; Prolyl hydroxylase domain-containing protein 2; PNAS-118 / PNAS-137; Zinc finger MYND domain containing protein 6; Egl nine homolog 1
    Approved Symbol:
    EGLN1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • N-[(1-CHLORO-4-HYDROXYISOQUINOLIN-3-YL)CARBONYL]GLYCINE(db);
  • N-[(4-HYDROXY-8-IODOISOQUINOLIN-3-YL)CARBONYL]GLYCINE(db);
  • Vitamin C(db)

    Associated Genetic Diseases:

  • Erythrocytosis, familial, 3(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06971 Entrez Gene ID: 54583 OMIM ID: 606425 Swissprot Accession: Q9GZT9;