SLC32A1

Chr 20q11.23

solute carrier family 32 member 1

Aliases:: VGAT, bA122O1.1
MANE:: ENST00000217420.2

OMIM: 616440 ↗NCBI: 140679 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC32A1 · Q9H598

v62025-08-01

Predicted Aligned Error matrix for SLC32A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.1/ 100

Confident

525 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)24%
Low(50–70)7%
Very low(< 50)20%

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

Disease associations (Open Targets)

developmental and epileptic encephalopathy 114
0.64
generalized epilepsy with febrile seizures plus, type 12
0.58
generalized epilepsy with febrile seizures plus
0.48
early-infantile DEE
0.38
Generalized epilepsy with febrile seizures-plus
0.38
Intellectual disability
0.38
Seizure
0.37
restless legs syndrome
0.29
neurodegenerative disease
0.26
autoimmune disorder of central nervous system
0.25

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

Protein function (UniProt)

Vesicular inhibitory amino acid transporter

Antiporter that exchanges vesicular protons for cytosolic 4-aminobutanoate or to a lesser extend glycine, thus allowing their secretion from nerve terminals. The transport is equally dependent on the chemical and electrical components of the proton gradient (By similarity). May also transport beta-alanine (By similarity). Acidification of GABAergic synaptic vesicles is a prerequisite for 4-aminobutanoate uptake (By similarity)