2d7p: Difference between revisions

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==Solution structure of the 22th Filamin domain from human Filamin C==
==Solution structure of the 22th Filamin domain from human Filamin C==
<StructureSection load='2d7p' size='340' side='right'caption='[[2d7p]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2d7p' size='340' side='right'caption='[[2d7p]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2d7p]] 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=2D7P OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2D7P FirstGlance]. <br>
<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>
</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">FLNC ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=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>
<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>
</table>
</table>
== Disease ==
== 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>
[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 ==
== 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.  
[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 ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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==See Also==
==See Also==
*[[Filamin 3D structures|Filamin 3D structures]]
*[[Filamin 3D structures|Filamin 3D structures]]
*[[User:Georg Mlynek/workbench|User:Georg Mlynek/workbench]]
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Inoue, M]]
[[Category: Inoue M]]
[[Category: Kigawa, T]]
[[Category: Kigawa T]]
[[Category: Koshiba, S]]
[[Category: Koshiba S]]
[[Category: Structural genomic]]
[[Category: Tomizawa T]]
[[Category: Tomizawa, T]]
[[Category: Yokoyama S]]
[[Category: Yokoyama, S]]
[[Category: Beta-sandwich]]
[[Category: Filamin domain]]
[[Category: Immunoglobulin-like fold]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Rsgi]]
[[Category: Structural protein]]
[[Category: Z-disk]]
[[Category: Z-disk]]

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