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2ee2
From Proteopedia
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==Solution structures of the fn3 domain of human contactin 1== | ==Solution structures of the fn3 domain of human contactin 1== | ||
| - | <StructureSection load='2ee2' size='340' side='right' caption='[[2ee2 | + | <StructureSection load='2ee2' size='340' side='right'caption='[[2ee2]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2ee2]] is a 1 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[2ee2]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. 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 [https://proteopedia.org/fgij/fg.htm?mol=2EE2 FirstGlance]. <br> |
| - | </td></tr><tr id=' | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> |
| - | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2ee2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ee2 OCA], [https://pdbe.org/2ee2 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ee2 RCSB], [https://www.ebi.ac.uk/pdbsum/2ee2 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ee2 ProSAT], [https://www.topsan.org/Proteins/RSGI/2ee2 TOPSAN]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
| - | [ | + | [https://www.uniprot.org/uniprot/CNTN1_HUMAN CNTN1_HUMAN] Defects in CNTN1 are the cause of Compton-North congenital myopathy (CNCM) [MIM:[https://omim.org/entry/612540 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.<ref>PMID:19026398</ref> |
== Function == | == Function == | ||
| - | [ | + | [https://www.uniprot.org/uniprot/CNTN1_HUMAN 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 == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
Check<jmol> | Check<jmol> | ||
<jmolCheckbox> | <jmolCheckbox> | ||
| - | <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ee/2ee2_consurf.spt"</scriptWhenChecked> | + | <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ee/2ee2_consurf.spt"</scriptWhenChecked> |
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
<text>to colour the structure by Evolutionary Conservation</text> | <text>to colour the structure by Evolutionary Conservation</text> | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
| - | [[Category: | + | [[Category: Homo sapiens]] |
| - | [[Category: | + | [[Category: Large Structures]] |
| - | [[Category: | + | [[Category: Inoue M]] |
| - | [[Category: | + | [[Category: Kigawa T]] |
| - | [[Category: | + | [[Category: Koshiba S]] |
| - | [[Category: Sato | + | [[Category: Sato M]] |
| - | [[Category: Tochio | + | [[Category: Tochio N]] |
| - | [[Category: Yokoyama | + | [[Category: Yokoyama S]] |
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Current revision
Solution structures of the fn3 domain of human contactin 1
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Categories: Homo sapiens | Large Structures | Inoue M | Kigawa T | Koshiba S | Sato M | Tochio N | Yokoyama S
