2d7p: Difference between revisions

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[[Image:2d7p.png|left|200px]]


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==Solution structure of the 22th Filamin domain from human Filamin C==
The line below this paragraph, containing "STRUCTURE_2d7p", creates the "Structure Box" on the page.
<StructureSection load='2d7p' size='340' side='right'caption='[[2d7p]]' scene=''>
You may change the PDB parameter (which sets the PDB file loaded into the applet)  
== Structural highlights ==
or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
<table><tr><td colspan='2'>[[2d7p]] 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=2D7P OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2D7P FirstGlance]. <br>
or leave the SCENE parameter empty for the default display.
</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=2d7p FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2d7p OCA], [https://pdbe.org/2d7p PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2d7p RCSB], [https://www.ebi.ac.uk/pdbsum/2d7p PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2d7p ProSAT], [https://www.topsan.org/Proteins/RSGI/2d7p TOPSAN]</span></td></tr>
{{STRUCTURE_2d7p| PDB=2d7p |  SCENE= }}
</table>
== Disease ==
[https://www.uniprot.org/uniprot/FLNC_HUMAN FLNC_HUMAN] Defects in FLNC are the cause of myopathy myofibrillar type 5 (MFM5) [MIM:[https://omim.org/entry/609524 609524]. A neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations, and clinical features of a limb-girdle myopathy.<ref>PMID:15929027</ref>  Defects in FLNC are the cause of myopathy distal type 4 (MPD4) [MIM:[https://omim.org/entry/614065 614065]. MPD4 is a slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation.<ref>PMID:21620354</ref>
== Function ==
[https://www.uniprot.org/uniprot/FLNC_HUMAN FLNC_HUMAN] Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers.
== 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/d7/2d7p_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=2d7p ConSurf].
<div style="clear:both"></div>


===Solution structure of the 22th Filamin domain from human Filamin C===
==See Also==
 
*[[Filamin 3D structures|Filamin 3D structures]]
 
*[[User:Georg Mlynek/workbench|User:Georg Mlynek/workbench]]
==Disease==
== References ==
Known disease associated with this structure: Myopathy, myofibrillar, filamin C-related OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102565 102565]]
<references/>
 
__TOC__
==About this Structure==
</StructureSection>
2D7P is a 1 chain structure of 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=2D7P OCA].
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Inoue, M.]]
[[Category: Large Structures]]
[[Category: Kigawa, T.]]
[[Category: Inoue M]]
[[Category: Koshiba, S.]]
[[Category: Kigawa T]]
[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
[[Category: Koshiba S]]
[[Category: Tomizawa, T.]]
[[Category: Tomizawa T]]
[[Category: Yokoyama, S.]]
[[Category: Yokoyama S]]
[[Category: Beta-sandwich]]
[[Category: Z-disk]]
[[Category: Filamin domain]]
[[Category: Immunoglobulin-like fold]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Riken structural genomics/proteomics initiative]]
[[Category: Rsgi]]
[[Category: Structural genomic]]
 
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