CNTN1

Chr 12q12

contactin 1

Aliases:: F3, GP135
MANE:: ENST00000551295.7

OMIM: 600016 ↗NCBI: 1272 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CNTN1 · Q12860

v62025-08-01

Predicted Aligned Error matrix for CNTN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.3/ 100

Confident

1,018 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)31%
Low(50–70)4%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Compton-North congenital myopathy
0.67
Congenital lethal myopathy, Compton-North type
0.49
Parkinson disease
0.36
urinary system disorder
0.33
escherichia coli infection
0.29
exostosis
0.25
Hypercholesterolemia
0.19
hereditary disease
0.19
retinal disorder
0.19
Precordial pain
0.19

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

Protein function (UniProt)

Contactin-1

Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity)