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2e6q
From Proteopedia
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| - | [[Image:2e6q.jpg|left|200px]] | ||
| - | + | ==Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1== | |
| - | + | <StructureSection load='2e6q' size='340' side='right'caption='[[2e6q]]' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[2e6q]] 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=2E6Q OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2E6Q FirstGlance]. <br> | |
| - | + | </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=2e6q FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2e6q OCA], [https://pdbe.org/2e6q PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2e6q RCSB], [https://www.ebi.ac.uk/pdbsum/2e6q PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2e6q ProSAT], [https://www.topsan.org/Proteins/RSGI/2e6q TOPSAN]</span></td></tr> | |
| - | + | </table> | |
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/OBSL1_HUMAN OBSL1_HUMAN] Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:[https://omim.org/entry/612921 612921]. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.<ref>PMID:19481195</ref> | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/OBSL1_HUMAN OBSL1_HUMAN] | ||
| + | == 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/e6/2e6q_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=2e6q ConSurf]. | ||
| + | <div style="clear:both"></div> | ||
| - | + | ==See Also== | |
| - | + | *[[Obscurin|Obscurin]] | |
| - | + | == References == | |
| - | == | + | <references/> |
| - | + | __TOC__ | |
| + | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: | + | [[Category: Large Structures]] |
| - | [[Category: Hayashi | + | [[Category: Hayashi F]] |
| - | [[Category: Qin | + | [[Category: Qin XR]] |
| - | + | [[Category: Suetake T]] | |
| - | [[Category: Suetake | + | [[Category: Yokoyama S]] |
| - | [[Category: Yokoyama | + | |
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Current revision
Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1
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