SLC6A1

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals.

Full Name

solute carrier family 6 (neurotransmitter transporter, GABA), member 1

Function

Mediates transport of gamma-aminobutyric acid (GABA) together with sodium and chloride and is responsible for the reuptake of GABA from the synapse (PubMed:30132828).
The translocation of GABA, however, may also occur in the reverse direction leading to the release of GABA (By similarity).
The direction and magnitude of GABA transport is a consequence of the prevailing thermodynamic conditions, determined by membrane potential and the intracellular and extracellular concentrations of Na+, Cl- and GABA (By similarity).
Can also mediate sodium- and chloride-dependent transport of hypotaurine but to a much lower extent as compared to GABA (By similarity).

Biological Process

Biological Process associative learningISS:ARUK-UCL
Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process chloride transmembrane transportManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process gamma-aminobutyric acid importManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process gamma-aminobutyric acid reuptakeTAS:Reactome
Biological Process inorganic anion import across plasma membraneManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process memoryISS:ARUK-UCL
Biological Process negative regulation of synaptic transmission, GABAergicIEA:Ensembl
Biological Process positive regulation of gamma-aminobutyric acid secretionIEA:Ensembl
Biological Process response to calcium ionIEA:Ensembl
Biological Process response to cocaineIEA:Ensembl
Biological Process response to estradiolIEA:Ensembl
Biological Process response to inorganic substanceManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process response to lead ionIEA:Ensembl
Biological Process response to purine-containing compoundIEA:Ensembl
Biological Process response to sucroseIEA:Ensembl
Biological Process response to toxic substanceIEA:Ensembl
Biological Process sodium ion import across plasma membraneManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process synapse organizationISS:ARUK-UCL
Biological Process transport across blood-brain barrier1 PublicationNAS:ARUK-UCL

Cellular Location

Cell membrane
Presynapse
Localized at the presynaptic terminals of interneurons.

Involvement in disease

Myoclonic-atonic epilepsy (MAE):
A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset.