CPLX1

Chr 4p16.3

complexin 1

Aliases:: CPX-I
MANE:: ENST00000304062.11

OMIM: 605032 ↗NCBI: 10815 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CPLX1 · O14810

v62025-08-01

Predicted Aligned Error matrix for CPLX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.4/ 100

Confident

134 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)28%
Low(50–70)44%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.65
familial infantile myoclonic epilepsy
0.38
essential tremor
0.31
sialolithiasis
0.27
Abnormal brain morphology
0.27
vasculitis
0.26
hereditary disease
0.19
Wolf-Hirschhorn syndrome
0.12
Parkinson disease
0.08
colorectal carcinoma
0.08

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

Protein function (UniProt)

Complexin-1

Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles (PubMed:21785414). Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse (PubMed:21785414). Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior