SLC6A1

Chr 3p25.3

solute carrier family 6 member 1

Aliases:: GAT1, GABATR, GABATHG, GAT-1, hGAT-1
MANE:: ENST00000287766.10

OMIM: 137165 ↗NCBI: 6529 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC6A1 · P30531

v62025-08-01

Predicted Aligned Error matrix for SLC6A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.9/ 100

Confident

599 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)12%
Low(50–70)3%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

epilepsy with myoclonic atonic seizures
0.76
Seizure
0.59
hereditary disease
0.54
Intellectual disability
0.50
epilepsy
0.48
Neurodevelopmental delay
0.48
neurodevelopmental disorder
0.43
generalized anxiety disorder
0.38
autosomal dominant non-syndromic intellectual disability
0.37
developmental and epileptic encephalopathy 94
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium- and chloride-dependent GABA transporter 1

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)