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Description for Protein SLC22A5

solute carrier family 22 (organic cation/carnitine transporter), member 5
4 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08202
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    High affinity sodium dependent carnitine cotransporter; Organic cation/carnitine transporter 2; OCTN2
    Approved Symbol:
    SLC22A5
    (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):

  • L-Carnitine(db)

    Associated Genetic Diseases:

  • Carnitine deficiency, systemic primary(Pd);
  • Crohn disease, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
    04539_1(12)
    Additional Identifiers:

    HPRD: 04539 Entrez Gene ID: 6584 OMIM ID: 603377 Swissprot Accession: O76082;