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Description for Protein NPC1

Niemann-Pick disease, type C1
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(membrane: 1; platelet: 1)
Summary:
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12385
    KEGG - Pathway(s):
    hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    NPC
    Approved Symbol:
    NPC1
    (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):

    None Available

    Associated Genetic Diseases:

  • Niemann-Pick disease, type C1(Pd);
  • Niemann-Pick disease, type C1, adult form(Pd);
  • Niemann-Pick disease, type C1, juvenile form(Pd);
  • Niemann-Pick disease, type D(Pd);
  • Niemann-Pick disease, variant type C1(Pd)
    		• Predicted Transmembrane Domains:
    09622_1(12)
    Additional Identifiers:

    HPRD: 09622 Entrez Gene ID: 4864 OMIM ID: 607623 Swissprot Accession: O15118;