2k2o

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[[Image:2k2o.jpg|left|200px]]
 
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==Solution Structure of the inner DysF domain of human myoferlin==
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The line below this paragraph, containing "STRUCTURE_2k2o", creates the "Structure Box" on the page.
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<StructureSection load='2k2o' size='340' side='right'caption='[[2k2o]]' scene=''>
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You may change the PDB parameter (which sets the PDB file loaded into the applet)
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== Structural highlights ==
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or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
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<table><tr><td colspan='2'>[[2k2o]] 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=2K2O OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2K2O FirstGlance]. <br>
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or leave the SCENE parameter empty for the default display.
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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=2k2o FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2k2o OCA], [https://pdbe.org/2k2o PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2k2o RCSB], [https://www.ebi.ac.uk/pdbsum/2k2o PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2k2o ProSAT]</span></td></tr>
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{{STRUCTURE_2k2o| PDB=2k2o | SCENE= }}
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</table>
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== Function ==
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'''Solution Structure of the inner DysF domain of human myoferlin'''
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[https://www.uniprot.org/uniprot/MYOF_HUMAN MYOF_HUMAN] Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity).
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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==Overview==
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Check<jmol>
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Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix. However, there is sequence conservation in some of the ferlin family in regions outside the C2 domains. In one annotation of the domain structure of these proteins, an unusual internal duplication event has been noted where a putative domain is inserted in between the N- and C-terminal parts of a homologous domain. This domain is known as the DysF domain. Here, we present the solution structure of the inner DysF domain of the dysferlin paralogue myoferlin, which has a unique fold held together by stacking of arginine and tryptophans, mutations that lead to clinical disease in dysferlin.
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/k2/2k2o_consurf.spt"</scriptWhenChecked>
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==About this Structure==
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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2K2O is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2K2O OCA].
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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==Reference==
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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=2k2o ConSurf].
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Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b., Patel P, Harris R, Geddes SM, Strehle EM, Watson JD, Bashir R, Bushby K, Driscoll PC, Keep NH, J Mol Biol. 2008 Jun 20;379(5):981-90. Epub 2008 Apr 26. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/18495154 18495154]
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<div style="clear:both"></div>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Single protein]]
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[[Category: Large Structures]]
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[[Category: Driscoll, P.]]
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[[Category: Driscoll P]]
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[[Category: Harris, R.]]
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[[Category: Harris R]]
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[[Category: Keep, N.]]
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[[Category: Keep N]]
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[[Category: Patel, P.]]
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[[Category: Patel P]]
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[[Category: Alternative splicing]]
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[[Category: Dysf]]
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[[Category: Dysferlin]]
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[[Category: Limb-girdle]]
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[[Category: Membrane]]
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[[Category: Membrane protein]]
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[[Category: Muscular dystrophy]]
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[[Category: Myoferlin]]
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[[Category: Nucleus]]
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[[Category: Phosphoprotein]]
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[[Category: Polymorphism]]
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[[Category: Transmembrane]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Jun 11 10:43:30 2008''
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Current revision

Solution Structure of the inner DysF domain of human myoferlin

PDB ID 2k2o

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