2ee2
From Proteopedia
(Difference between revisions)
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| - | + | ==Solution structures of the fn3 domain of human contactin 1== | |
| - | + | <StructureSection load='2ee2' size='340' side='right' caption='[[2ee2]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | |
| - | + | == Structural highlights == | |
| - | ==Disease== | + | <table><tr><td colspan='2'>[[2ee2]] is a 1 chain structure with sequence from [http://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 [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EE2 FirstGlance]. <br> |
| - | [[http://www.uniprot.org/uniprot/CNTN1_HUMAN CNTN1_HUMAN]] Defects in CNTN1 are the cause of Compton-North congenital myopathy (CNCM) [MIM:[http://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> | + | </td></tr><tr><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 Homo sapiens])</td></tr> |
| - | + | <tr><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> | |
| - | ==Function== | + | <table> |
| + | == Disease == | ||
| + | [[http://www.uniprot.org/uniprot/CNTN1_HUMAN CNTN1_HUMAN]] Defects in CNTN1 are the cause of Compton-North congenital myopathy (CNCM) [MIM:[http://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 == | ||
[[http://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). | [[http://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 == | |
| - | == | + | [[Image:Consurf_key_small.gif|200px|right]] |
| - | [[ | + | Check<jmol> |
| - | + | <jmolCheckbox> | |
| - | == | + | <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ee/2ee2_consurf.spt"</scriptWhenChecked> |
| - | <references | + | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> |
| + | <text>to colour the structure by Evolutionary Conservation</text> | ||
| + | </jmolCheckbox> | ||
| + | </jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf]. | ||
| + | <div style="clear:both"></div> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Inoue, M.]] | [[Category: Inoue, M.]] | ||
Revision as of 23:54, 29 September 2014
Solution structures of the fn3 domain of human contactin 1
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Categories: 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
