1kun: Difference between revisions

<StructureSection load='1kun' size='340' side='right'caption='[[1kun]]' scene=''>

<table><tr><td colspan='2'>[[1kun]] 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=1KUN OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1KUN FirstGlance]. <br>

</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR, 20 models</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=1kun FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1kun OCA], [https://pdbe.org/1kun PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1kun RCSB], [https://www.ebi.ac.uk/pdbsum/1kun PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1kun ProSAT]</span></td></tr>

[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>  

[https://www.uniprot.org/uniprot/CO6A3_HUMAN CO6A3_HUMAN] Collagen VI acts as a cell-binding protein.

     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ku/1kun_consurf.spt"</scriptWhenChecked>

     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.spt</scriptWhenUnchecked>

</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=1kun ConSurf].

*[[Collagen 3D structures|Collagen 3D structures]]

[[Category: Homo sapiens]]

[[Category: Large Structures]]

[[Category: Bjorn S]]

[[Category: James TL]]

[[Category: Led JJ]]

[[Category: Norris K]]

[[Category: Olsen O]]

[[Category: Petersen L]]

[[Category: Sorensen MD]]