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==Solution structure of the PDZ domain from human Shroom family member 4==
==Solution structure of the PDZ domain from human Shroom family member 4==
<StructureSection load='2edp' size='340' side='right'caption='[[2edp]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2edp' size='340' side='right'caption='[[2edp]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2edp]] 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=2EDP OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EDP FirstGlance]. <br>
<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='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA1202 ([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=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>
<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>
</table>
== Disease ==
== 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).  
[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 ==
== 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>
[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 ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Endo, H]]
[[Category: Endo H]]
[[Category: Hayashi, F]]
[[Category: Hayashi F]]
[[Category: Structural genomic]]
[[Category: Yokoyama S]]
[[Category: Yokoyama, S]]
[[Category: Yoshida M]]
[[Category: Yoshida, M]]
[[Category: Apx/shroom family member]]
[[Category: Kiaa1202 protein]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Rsgi]]
[[Category: Structural protein]]

Latest revision as of 18:49, 29 May 2024

Solution structure of the PDZ domain from human Shroom family member 4

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