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Description for Protein SLC6A8

solute carrier family 6 (neurotransmitter transporter, creatine), member 8
1 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 plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05041
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    CT1; CRTR; Sodium and chloride dependent creatine transporter 1; Creatine transporter
    Approved Symbol:
    SLC6A8
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; 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):

  • Creatine(db)

    Associated Genetic Diseases:

  • Creatine deficiency syndrome, X-linked(Pd)
    		• Predicted Transmembrane Domains:
    02073_3(10)
    02073_2(12)
    02073_1(12)
    Additional Identifiers:

    HPRD: 02073 Entrez Gene ID: 6535 OMIM ID: 300036 Swissprot Accession: P48029; Q59EV7; B4DIA3;