1kth: Difference between revisions

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<StructureSection load='1kth' size='340' side='right'caption='[[1kth]], [[Resolution|resolution]] 0.95&Aring;' scene=''>
<StructureSection load='1kth' size='340' side='right'caption='[[1kth]], [[Resolution|resolution]] 0.95&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[1kth]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1KTH OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1KTH FirstGlance]. <br>
<table><tr><td colspan='2'>[[1kth]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1KTH OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1KTH FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 0.95&#8491;</td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2knt|2knt]]</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1kth FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1kth OCA], [http://pdbe.org/1kth PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1kth RCSB], [http://www.ebi.ac.uk/pdbsum/1kth PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1kth ProSAT]</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=1kth FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1kth OCA], [https://pdbe.org/1kth PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1kth RCSB], [https://www.ebi.ac.uk/pdbsum/1kth PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1kth ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/CO6A3_HUMAN CO6A3_HUMAN]] Defects in COL6A3 are a cause of Bethlem myopathy (BM) [MIM:[http://omim.org/entry/158810 158810]]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.<ref>PMID:11992252</ref> <ref>PMID:9536084</ref> <ref>PMID:10399756</ref> <ref>PMID:15689448</ref> <ref>PMID:17886299</ref>  Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:[http://omim.org/entry/254090 254090]]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.<ref>PMID:11992252</ref> <ref>PMID:15689448</ref>
[https://www.uniprot.org/uniprot/CO6A3_HUMAN CO6A3_HUMAN] Defects in COL6A3 are a cause of Bethlem myopathy (BM) [MIM:[https://omim.org/entry/158810 158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.<ref>PMID:11992252</ref> <ref>PMID:9536084</ref> <ref>PMID:10399756</ref> <ref>PMID:15689448</ref> <ref>PMID:17886299</ref>  Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:[https://omim.org/entry/254090 254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.<ref>PMID:11992252</ref> <ref>PMID:15689448</ref>  
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/CO6A3_HUMAN CO6A3_HUMAN]] Collagen VI acts as a cell-binding protein.  
[https://www.uniprot.org/uniprot/CO6A3_HUMAN CO6A3_HUMAN] Collagen VI acts as a cell-binding protein.
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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   <jmolCheckbox>
   <jmolCheckbox>
     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/kt/1kth_consurf.spt"</scriptWhenChecked>
     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/kt/1kth_consurf.spt"</scriptWhenChecked>
     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.spt</scriptWhenUnchecked>
     <text>to colour the structure by Evolutionary Conservation</text>
     <text>to colour the structure by Evolutionary Conservation</text>
   </jmolCheckbox>
   </jmolCheckbox>
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Arnoux, B]]
[[Category: Arnoux B]]
[[Category: Ducruix, A]]
[[Category: Ducruix A]]
[[Category: Prange, T]]
[[Category: Prange T]]
[[Category: Anisotropic refinement]]
[[Category: Connective tissue]]
[[Category: Extracellular matrix]]
[[Category: Kunitz inhibitor]]
[[Category: Structural protein]]

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