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2dav

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{{STRUCTURE_2dav| PDB=2dav | SCENE= }}
 
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===Solution structure of the first ig-like domain of Myosin-binding protein C, slow-type===
 
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==Disease==
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==Solution structure of the first ig-like domain of Myosin-binding protein C, slow-type==
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[[http://www.uniprot.org/uniprot/MYPC1_HUMAN MYPC1_HUMAN]] Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM:[http://omim.org/entry/614335 614335]]. A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.<ref>PMID:20045868</ref> Note=Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a severe, neonatally lethal form of arthrogryposis.<ref>PMID:22610851</ref>
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<StructureSection load='2dav' size='340' side='right'caption='[[2dav]]' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[2dav]] 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=2DAV OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DAV FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/MYPC1_HUMAN MYPC1_HUMAN]] Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2dav FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dav OCA], [https://pdbe.org/2dav PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2dav RCSB], [https://www.ebi.ac.uk/pdbsum/2dav PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2dav ProSAT], [https://www.topsan.org/Proteins/RSGI/2dav TOPSAN]</span></td></tr>
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==About this Structure==
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</table>
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[[2dav]] 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=2DAV OCA].
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== Disease ==
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[https://www.uniprot.org/uniprot/MYPC1_HUMAN MYPC1_HUMAN] Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM:[https://omim.org/entry/614335 614335]. A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.<ref>PMID:20045868</ref> Note=Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a severe, neonatally lethal form of arthrogryposis.<ref>PMID:22610851</ref>
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==Reference==
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== Function ==
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<references group="xtra"/><references/>
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[https://www.uniprot.org/uniprot/MYPC1_HUMAN MYPC1_HUMAN] Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/da/2dav_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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=2dav ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Hayashi, F.]]
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[[Category: Large Structures]]
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[[Category: Nagashima, T.]]
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[[Category: Hayashi F]]
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[[Category: Qin, X R.]]
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[[Category: Nagashima T]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Qin XR]]
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[[Category: Yokoyama, S.]]
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[[Category: Yokoyama S]]
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[[Category: Contractile protein]]
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[[Category: Ig domain]]
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[[Category: Myosin-binding protein c]]
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[[Category: National project on protein structural and functional analyse]]
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[[Category: Nppsfa]]
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[[Category: Riken structural genomics/proteomics initiative]]
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[[Category: Rsgi]]
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[[Category: Slow-type]]
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[[Category: Structural genomic]]
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[[Category: Structural protein]]
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Current revision

Solution structure of the first ig-like domain of Myosin-binding protein C, slow-type

PDB ID 2dav

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