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Description for Protein SLC12A1

solute carrier family 12 (sodium/potassium/chloride transporters), member 1
3 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven. (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • 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:
    NKCC2; Sodium potassium chloride cotransporter 2; Sodium potassium chloride transporter 2
    Approved Symbol:
    SLC12A1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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):

  • Bumetanide(db);
  • Chlormerodrin(db);
  • Chlorthalidone(db);
  • Ethacrynic acid(db);
  • Furosemide(db);
  • Hydroflumethiazide(db);
  • Methyclothiazide(db);
  • Piretanide(db);
  • Potassium Chloride(db);
  • Quinethazone(db);
  • Torasemide(db);
  • Trichlormethiazide(db)

    Associated Genetic Diseases:

  • Bartter syndrome, antenatal, type 1(Pd)
    		• Predicted Transmembrane Domains:
    02908_1(10)
    Additional Identifiers:

    HPRD: 02908 Entrez Gene ID: 6557 OMIM ID: 600839 Swissprot Accession: Q13621; Q8IUN5;