View source for 2ee2


==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 ==
<table><tr><td colspan='2'>[[2ee2]] is a 1 chain structure with sequence from [https://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 [https://proteopedia.org/fgij/fg.htm?mol=2EE2 FirstGlance]. <br>
</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CNTN1 ([https://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'>[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>
== 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 ==
[[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 ==
[[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>
    <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/main_output.php?pdb_ID=2ee2 ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Human]]
[[Category: Large Structures]]
[[Category: Inoue, M]]
[[Category: Kigawa, T]]
[[Category: Koshiba, S]]
[[Category: Structural genomic]]
[[Category: Sato, M]]
[[Category: Tochio, N]]
[[Category: Yokoyama, S]]
[[Category: Glycoprotein gp135]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Neural cell surface protein f3]]
[[Category: Nppsfa]]
[[Category: Rsgi]]
[[Category: Signaling protein]]