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Description for Protein PCSK9

proprotein convertase subtilisin/kexin type 9
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. The encoded protein is synthesized as a soluble zymogen that undergoes autocatalytic intramolecular processing in the endoplasmic reticulum. The protein may function as a proprotein convertase. This protein plays a role in cholesterol homeostasis and may have a role in the differentiation of cortical neurons. Mutations in this gene have been associated with a third form of autosomal dominant familial hypercholesterolemia (HCHOLA3). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.21.-
    KEGG - Orthology:
    K13050
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Proprotein convertase subtilisin/kexin type 9; Subtilisin/kexin like protease PC9; Neural apoptosis regulated convertase 1; NARC1
    Approved Symbol:
    PCSK9
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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):

    None Available

    Associated Genetic Diseases:

  • Hypercholesterolemia, familial, 3(Pd);
  • Low density lipoprotein cholesterol, low plasma levels of(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07080 Entrez Gene ID: 255738 OMIM ID: 607786 Swissprot Accession: Q8NBP7;