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2edp
From Proteopedia
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| - | {{Seed}} | ||
| - | [[Image:2edp.png|left|200px]] | ||
| - | + | ==Solution structure of the PDZ domain from human Shroom family member 4== | |
| - | + | <StructureSection load='2edp' size='340' side='right'caption='[[2edp]]' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[2edp]] 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=2EDP OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EDP 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=2edp FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edp OCA], [https://pdbe.org/2edp PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2edp RCSB], [https://www.ebi.ac.uk/pdbsum/2edp PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2edp ProSAT], [https://www.topsan.org/Proteins/RSGI/2edp TOPSAN]</span></td></tr> | |
| - | + | </table> | |
| - | + | == Disease == | |
| - | + | [https://www.uniprot.org/uniprot/SHRM4_HUMAN SHRM4_HUMAN] Defects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:[https://omim.org/entry/300434 300434]. A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis.<ref>PMID:16249884</ref> Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25. Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19). | |
| - | + | == Function == | |
| - | + | [https://www.uniprot.org/uniprot/SHRM4_HUMAN SHRM4_HUMAN] Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity).<ref>PMID:16684770</ref> | |
| - | == | + | == 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/ed/2edp_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=2edp ConSurf]. | ||
| + | <div style="clear:both"></div> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: | + | [[Category: Large Structures]] |
| - | [[Category: Endo | + | [[Category: Endo H]] |
| - | [[Category: Hayashi | + | [[Category: Hayashi F]] |
| - | + | [[Category: Yokoyama S]] | |
| - | [[Category: Yokoyama | + | [[Category: Yoshida M]] |
| - | [[Category: Yoshida | + | |
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Current revision
Solution structure of the PDZ domain from human Shroom family member 4
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