Aliases for CNTN1 Gene
External Ids for CNTN1 Gene
Previous GeneCards Identifiers for CNTN1 Gene
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for CNTN1 Gene
CNTN1 (Contactin 1) is a Protein Coding gene. Diseases associated with CNTN1 include Myopathy, Congenital, Compton-North and Congenital Myopathy. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Signaling by GPCR. GO annotations related to this gene include carbohydrate binding and glycoprotein binding. An important paralog of this gene is CNTN2.
UniProtKB/Swiss-Prot for CNTN1 Gene
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).