2ee2: Difference between revisions
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<StructureSection load='2ee2' size='340' side='right' caption='[[2ee2]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | <StructureSection load='2ee2' size='340' side='right' caption='[[2ee2]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2ee2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/ | <table><tr><td colspan='2'>[[2ee2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EE2 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EE2 FirstGlance]. <br> | ||
</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CNTN1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CNTN1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2ee2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ee2 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2ee2 RCSB], [http://www.ebi.ac.uk/pdbsum/2ee2 PDBsum], [http://www.topsan.org/Proteins/RSGI/2ee2 TOPSAN]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2ee2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ee2 OCA], [http://pdbe.org/2ee2 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2ee2 RCSB], [http://www.ebi.ac.uk/pdbsum/2ee2 PDBsum], [http://www.topsan.org/Proteins/RSGI/2ee2 TOPSAN]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == Disease == | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Human]] | ||
[[Category: Inoue, M]] | [[Category: Inoue, M]] | ||
[[Category: Kigawa, T]] | [[Category: Kigawa, T]] | ||
Revision as of 07:35, 11 September 2015
Solution structures of the fn3 domain of human contactin 1Solution structures of the fn3 domain of human contactin 1
Structural highlights
Disease[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] Function[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). Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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