STX1A

Chr 7q11.23

syntaxin 1A

Aliases:: HPC-1, p35-1
MANE:: ENST00000222812.8

OMIM: 186590 ↗NCBI: 6804 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

STX1A · Q16623

v62025-08-01

Predicted Aligned Error matrix for STX1A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.8/ 100

Confident

288 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)35%
Low(50–70)14%
Very low(< 50)2%

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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Intellectual disability
0.57
autism
0.44
neurodevelopmental disorder
0.38
cystic fibrosis
0.37
botulism
0.37
Seizure
0.37
hereditary disease
0.19
complex neurodevelopmental disorder
0.18
Neurodevelopmental abnormality
0.11
retinitis pigmentosa
0.11

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

Protein function (UniProt)

Syntaxin-1A

Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the formation of the SNARE complex, which brings membranes into close proximity and results in final fusion. Participates in the calcium-dependent regulation of acrosomal exocytosis in sperm (PubMed:23091057). Also plays an important role in the exocytosis of hormones such as insulin or glucagon-like peptide 1 (GLP-1) (By similarity)