UNC13A

Chr 19p13.11

unc-13 homolog A

Aliases:: KIAA1032, Munc13-1
MANE:: ENST00000519716.7

OMIM: 609894 ↗NCBI: 23025 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

UNC13A · Q9UPW8

v62025-08-01

Predicted Aligned Error matrix for UNC13A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.1/ 100

Confident

1,703 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)34%
Low(50–70)7%
Very low(< 50)25%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
Unknown
Amyotrophic lateral sclerosis/motor neuron disease
Unknown

Disease associations (Open Targets)

amyotrophic lateral sclerosis
0.48
neurodegenerative disease
0.45
complex neurodevelopmental disorder
0.43
monogenic diabetes
0.32
neurodevelopmental disorder
0.31
cerebellar ataxia
0.30
Tremor
0.30
cardiovascular disorder
0.28
Delayed speech and language development
0.27
Developmental regression
0.27

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

Protein function (UniProt)

Protein unc-13 homolog A

Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses. Facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release (By similarity). Also involved in secretory granule priming in insulin secretion. Plays a role in dendrite formation by melanocytes (PubMed:23999003)