ID:CNTN1_HUMAN DESCRIPTION: RecName: Full=Contactin-1; AltName: Full=Glycoprotein gp135; AltName: Full=Neural cell surface protein F3; Flags: Precursor; 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). SUBUNIT: Monomer. Interacts with CNTNAP1 in cis form. Binds to the carbonic-anhydrase like domain of protein-tyrosine phosphatase zeta. Interacts with NOTCH1 and TNR (By similarity). SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Lipid-anchor, GPI- anchor; Extracellular side. SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Lipid-anchor, GPI- anchor; Extracellular side. TISSUE SPECIFICITY: Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle. DISEASE: Defects in CNTN1 are the cause of Compton-North congenital myopathy (CNCM) [MIM:612540]. CNCM is a familial lethal form of congenital onset muscle weakness, inherited in an autosomal-recessive fashion and characterized by a secondary loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. SIMILARITY: Belongs to the immunoglobulin superfamily. Contactin family. SIMILARITY: Contains 4 fibronectin type-III domains. SIMILARITY: Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q12860
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007155 cell adhesion GO:0007219 Notch signaling pathway GO:0007399 nervous system development GO:0010628 positive regulation of gene expression GO:0010765 positive regulation of sodium ion transport GO:0010976 positive regulation of neuron projection development GO:0021549 cerebellum development GO:0031175 neuron projection development GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
