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Description for Protein SLC6A5

solute carrier family 6 (neurotransmitter transporter, glycine), member 5
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05038
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Glycine transporter, type 2; GlyT2
    Approved Symbol:
    SLC6A5
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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):

  • Glycine(db)

    Associated Genetic Diseases:

  • Hyperekplexia(Pd)
    		• Predicted Transmembrane Domains:
    08378_1(12)
    Additional Identifiers:

    HPRD: 08378 Entrez Gene ID: 9152 OMIM ID: 604159 Swissprot Accession: Q4VAM4; Q9Y345;