2ee2
Solution structures of the fn3 domain of human contactin 1Solution structures of the fn3 domain of human contactin 1
DiseaseDisease
[CNTN1_HUMAN] 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.[1]
FunctionFunction
[CNTN1_HUMAN] 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).
About this StructureAbout this Structure
2ee2 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
ReferenceReference
- ↑ Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008, Nov 20. PMID:19026398 doi:10.1016/j.ajhg.2008.10.022
Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)
OCA- Homo sapiens
- Inoue, M.
- Kigawa, T.
- Koshiba, S.
- RSGI, RIKEN Structural Genomics/Proteomics Initiative.
- Sato, M.
- Tochio, N.
- Yokoyama, S.
- Glycoprotein gp135
- National project on protein structural and functional analyse
- Neural cell surface protein f3
- Nppsfa
- Riken structural genomics/proteomics initiative
- Rsgi
- Signaling protein
- Structural genomic