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Description for Protein CFTR

cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
34 total interacting proteins; 24 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. 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 that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • AAA: ATPases associated with a variety of cellular activities
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05031
    KEGG - Pathway(s):
    hsa02010; hsa05110
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cystic fibrosis transmembrane conductance regulator, ATP binding cassette; MRP7; ABC35; ABCC7; Cystic fibrosis transmembrane conductance regulator
    Approved Symbol:
    CFTR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 22
    Human (de-) phosphorylation sites: 22; 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-5'-Diphosphate(db);
  • Bumetanide(db);
  • Glibenclamide(db);
  • Phosphoaminophosphonic Acid-Adenylate Ester(db);
  • Phosphonoserine(db)

    Associated Genetic Diseases:

  • CFTR polymorphism(Pd);
  • Cystic fibrosis(Pd);
  • Nasal polyps, recurrent(Pd);
  • Pancreatitis, idiopathic, susceptibility to(Pd);
  • Sweat chloride elevation without cystic fibrosis(Pd);
  • Vas deferens, congenital bilateral absence of(Pd)
    		• Predicted Transmembrane Domains:
    03883_1(11)
    Additional Identifiers:

    HPRD: 03883 Entrez Gene ID: 1080 OMIM ID: 602421 Swissprot Accession: P13569;