其他名称： CNTN1; Contactin-1; Glycoprotein gp135; Neural cell surface protein F3
实测条带： 113kD
信号通路： Cell adhesion molecules (CAMs);
功能： disease:Defects in CNTN1 are the cause of Compton-North congenital myopathy [MIM:612540]. Compton-North congenital myopathy 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.,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.,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.,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.,tissue specificity:Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.,
组织表达： Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.
其他名称： CNTN1; Contactin-1; Glycoprotein gp135; Neural cell surface protein F3
实测条带： 113kD
信号通路： Cell adhesion molecules (CAMs);
功能： disease:Defects in CNTN1 are the cause of Compton-North congenital myopathy [MIM:612540]. Compton-North congenital myopathy 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.,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.,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.,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.,tissue specificity:Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.,
组织表达： Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.
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