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Description for Protein APOB

apolipoprotein B (including Ag(x) antigen)
20 total interacting proteins; 14 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 6/0)
(alpha granules: 1; membrane: 1; microparticles: 1; platelet: 2; secretome: 1)
Summary:
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    APOB100; APOB48; FHBL; FHBL 1
    Approved Symbol:
    APOB
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 16
    Human (de-) phosphorylation sites: 16; 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:

  • APOB polymorphism in signal peptide(Pd);
  • Hypercholesterolemia due to ligand-defective apolipoprotein B(Pd);
  • Hypercholesterolemia due to ligand-defective apolipoprotein B100(Pd);
  • Hypobetalipoproteinemia, familial(Pd);
  • Hypobetalipoproteinemia, familial, associated with APOB31(Pd);
  • Hypobetalipoproteinemia, familial, associated with APOB32(Pd);
  • Hypobetalipoproteinemia, familial, associated with APOB39(Pd);
  • Hypobetalipoproteinemia, familial, associated with APOB40(Pd);
  • Hypobetalipoproteinemia, familial, associated with APOB46(Pd);
  • Hypobetalipoproteinemia, familial, associated with APOB87(Pd);
  • Hypobetalipoproteinemia, familial, associated with APOB90 or APOB89(Pd);
  • Hypobetalipoproteinemia, normotriglyceridemic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 00133 Entrez Gene ID: 338 OMIM ID: 107730 Swissprot Accession: Q59HB3; P04114; Q7Z7Q0;