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Description for Protein APC

adenomatous polyposis coli
116 total interacting proteins; 52 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • ARM: Armadillo/beta-catenin-like repeats
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K02085
    KEGG - Pathway(s):
    hsa04310; hsa04810; hsa05200; hsa05210; hsa05213; hsa05217
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Adenomatous polyposis coli protein; APC protein; FPC; FAP; GS; AAPC
    Approved Symbol:
    APC
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 77
    Human (de-) phosphorylation sites: 77; 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:

  • Adenoma, periampullary(Pd);
  • Adenomatous polyposis coli(Pd);
  • Adenomatous polyposis coli, attenuated(Pd);
  • Adenomatous polyposis coli, early-onset(Pd);
  • Colorectal cancer(Pd);
  • Colorectal cancer, familial, ashkenazi type(Pd);
  • Desmoid disease, hereditary(Pd);
  • Gardner syndrome(Pd);
  • Gastric cancer, somatic(Pd);
  • Hepatoblastoma, sporadic(Pd);
  • Hepatocellular carcinoma, somatic, in adenomatous polyposis coli(Pd);
  • Turcot syndrome with medulloblastoma(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01439 Entrez Gene ID: 324 OMIM ID: 611731 Swissprot Accession: P25054; Q4LE70;