Aliases for SLC6A1 Gene
External Ids for SLC6A1 Gene
Previous GeneCards Identifiers for SLC6A1 Gene
The SLC6A1 gene encodes a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft (Hirunsatit et al., 2009 [PubMed 19077666]).[supplied by OMIM, Jul 2009]
GeneCards Summary for SLC6A1 Gene
SLC6A1 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 1) is a Protein Coding gene. Diseases associated with SLC6A1 include female stress incontinence and schizophrenia. Among its related pathways are Circadian entrainment and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include neurotransmitter:sodium symporter activity and gamma-aminobutyric acid:sodium symporter activity. An important paralog of this gene is SLC6A4.
UniProtKB/Swiss-Prot for SLC6A1 Gene
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals
GABA transporters are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) that mediate the rapid removal of GABA and maintain low extracellular levels. Four 12-TM domain transporters (GAT-1, GAT-2, GAT-3 and BGT-1) have been identified and localized to neurons and glia. While GAT-1, GAT-2, GAT-3 and BGT-1 bind GABA with varying affinities, they share structural motifs including 12-TM domains, extracellular glycosylation sites and intracellular consensus sites for phosphorylation. A vesicular transporter (VGAT) has also been identified. This member of the SCL32 family is both structurally and functionally distinct, containing 10-TM domains and being found in GABAergic and glycinergic neurons. Some anticonvulsants have been reported to act upon the GABA transporters. There is evidence to suggest that GABA transporters are linked to epilepsy, affective disorders and schizophrenia.