SYT1

Chr 12q21.2

synaptotagmin 1

Aliases:: P65
MANE:: ENST00000261205.9

OMIM: 185605 ↗NCBI: 6857 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SYT1 · P21579

v62025-08-01

Predicted Aligned Error matrix for SYT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.8/ 100

Confident

422 residues

Confidence breakdown

Very high(≥ 90)56%
Confident(70–90)21%
Low(50–70)8%
Very low(< 50)15%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
0.75
Intellectual disability
0.56
botulism
0.55
hereditary disease
0.45
intelligence
0.43
syndromic intellectual disability
0.34
ankylosing spondylitis
0.32
mathematical ability
0.32
non-autoimmune hemolytic anemia
0.31
alcohol drinking
0.30

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

Protein function (UniProt)

Synaptotagmin-1

Calcium sensor that participates in triggering neurotransmitter release at the synapse (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2. Plays a role in dendrite formation by melanocytes (PubMed:23999003)