CNTN1
Function
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).
Involvement in disease
Congenital myopathy 12
CMYO12
A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the immunoglobulin superfamily. Contactin family.
Tissue Specificity
Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.
Cellular localization
- Isoform 1
- Cell membrane
- Lipid-anchor
- GPI-anchor
- Extracellular side
- Isoform 2
- Cell membrane
- Lipid-anchor
- GPI-anchor
- Extracellular side
Alternative names
Contactin-1, Glycoprotein gp135, Neural cell surface protein F3, CNTN1