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Description for Protein ABCC8

ATP-binding cassette, sub-family C (CFTR/MRP), member 8
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • AAA: ATPases associated with a variety of cellular activities
  • TM: Transmembrane domain
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05032
    KEGG - Pathway(s):
    hsa02010; hsa04930
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    SUR; SUR1; Sulfonylurea receptor; Sulfonylurea receptor, beta-cell high-affinity
    Approved Symbol:
    ABCC8
    (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):

  • Adenosine triphosphate(db);
  • Chlorpropamide(db);
  • Glibenclamide(db);
  • Gliclazide(db);
  • Glimepiride(db);
  • Glipizide(db);
  • Gliquidone(db);
  • Glisoxepide(db);
  • Glycodiazine(db);
  • Mitiglinide(db);
  • Nateglinide(db);
  • Repaglinide(db);
  • Tolbutamide(db)

    Associated Genetic Diseases:

  • Diabetes mellitus, permanent neonatal(Pd);
  • Diabetes mellitus, permanent neonatal, with neurologic features(Pd);
  • Diabetes mellitus, transient neonatal, 2(Pd);
  • Hyperinsulinemic hypoglycemia, familial, 1(Pd);
  • Leucine-sensitive hypoglycemia of infancy(Pd)
    		• Predicted Transmembrane Domains:
    02741_1(16)
    Additional Identifiers:

    HPRD: 02741 Entrez Gene ID: 6833 OMIM ID: 600509 Swissprot Accession: Q09428;