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Description for Protein GGCX

gamma-glutamyl carboxylase
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    6.4.-.-
    KEGG - Orthology:
    K10106
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    EC 6.4.-.-
    Approved Symbol:
    GGCX
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; 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):

  • Anisindione(db);
  • Coagulation Factor IX(db);
  • Coagulation factor VIIa(db);
  • Drotrecogin alfa(db);
  • L-Glutamic Acid(db);
  • Menadione(db);
  • Phytonadione(db)

    Associated Genetic Diseases:

  • PXE-like disorder with multiple coagulation factor deficiency(Pd);
  • Vitamin K-dependent coagulation defect(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 5
  • Isoform 1 : 5
    • Additional Identifiers:

    HPRD: 00665 Entrez Gene ID: 2677 OMIM ID: 137167 Swissprot Accession: P38435; B4DMC5;