SLC18A3

Chr 10q11.23

solute carrier family 18 member A3

Aliases:: VACHT
MANE:: ENST00000374115.5

OMIM: 600336 ↗NCBI: 6572 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC18A3 · Q16572

v62025-08-01

Predicted Aligned Error matrix for SLC18A3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.2/ 100

Confident

532 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)29%
Low(50–70)8%
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)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Congenital myasthenic syndromes
0.72
Presynaptic congenital myasthenic syndromes
0.59
presynaptic congenital myasthenic syndrome
0.38
neurodegenerative disease
0.37
arthrogryposis
0.37
fetal akinesia deformation sequence
0.37
fetal akinesia deformation sequence 1
0.37
Hodgkins lymphoma
0.31
ovarian neoplasm
0.25
hereditary disease
0.19

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

Protein function (UniProt)

Vesicular acetylcholine transporter

Electrogenic antiporter that exchanges one cholinergic neurotransmitter, acetylcholine or choline, with two intravesicular protons across the membrane of synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATPase to store neurotransmitters inside the vesicles prior to their release via exocytosis (By similarity) (PubMed:20225888, PubMed:8910293). Determines cholinergic vesicular quantal size at presynaptic nerve terminals in developing neuro-muscular junctions with an impact on motor neuron differentiation and innervation pattern (By similarity). Part of forebrain cholinergic system, regulates hippocampal synapse transmissions that underlie spatial memory formation (By similarity). Can transport serotonin