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Description for Protein ABCA1

ATP-binding cassette, sub-family A (ABC1), member 1
38 total interacting proteins; 17 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(undefined: 1)
Summary:
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • AAA: ATPases associated with a variety of cellular activities
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05641
    KEGG - Pathway(s):
    hsa02010
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    ATP binding cassette subfamily A member 1; ATP binding cassete 1; ATP binding cassete transporter 1; ABC transporter 1; Cholesterol efflux regulatory protein; CERP
    Approved Symbol:
    ABCA1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; 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):

  • Adenosine triphosphate(db);
  • Glibenclamide(db);
  • Probucol(db)

    Associated Genetic Diseases:

  • Coronary heart disease in familial hypercholesterolemia, protection against(Pd);
  • High density lipoprotein deficiency(Pd);
  • High density lipoprotein deficiency, type 2(Pd);
  • Tangier disease(Pd);
  • Tangier disease, variant(Pd)
    		• Predicted Transmembrane Domains:
    02501_1(11)
    Additional Identifiers:

    HPRD: 02501 Entrez Gene ID: 19 OMIM ID: 600046 Swissprot Accession: O95477;