SYN1

Chr Xp11.3-p11.23

synapsin I

MANE:: ENST00000295987.13

OMIM: 313440 ↗NCBI: 6853 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SYN1 · P17600

v62025-08-01

Predicted Aligned Error matrix for SYN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.1/ 100

Low

705 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)5%
Low(50–70)8%
Very low(< 50)45%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
0.77
X-linked epilepsy - learning disabilities - behavior disorders
0.73
X-linked non-syndromic intellectual disability
0.70
hereditary disease
0.45
X-linked complex neurodevelopmental disorder
0.37
epilepsy
0.35
Seizure
0.34
Intellectual disability
0.31
autism spectrum disorder
0.12
Alzheimer disease
0.07

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

Protein function (UniProt)

Synapsin-1

Neuronal phosphoprotein that coats synaptic vesicles, and binds to the cytoskeleton. Acts as a regulator of synaptic vesicles trafficking, involved in the control of neurotransmitter release at the pre-synaptic terminal (PubMed:21441247, PubMed:23406870). Also involved in the regulation of axon outgrowth and synaptogenesis (By similarity). The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level (By similarity)