2e7m

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[[Image:2e7m.png|left|200px]]
 
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{{STRUCTURE_2e7m| PDB=2e7m | SCENE= }}
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==Solution structure of the PKD domain (329-428) from human KIAA0319==
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<StructureSection load='2e7m' size='340' side='right'caption='[[2e7m]]' scene=''>
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===Solution structure of the PKD domain (329-428) from human KIAA0319===
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== Structural highlights ==
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<table><tr><td colspan='2'>[[2e7m]] 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=2E7M OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2E7M FirstGlance]. <br>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
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==About this Structure==
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2e7m FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2e7m OCA], [https://pdbe.org/2e7m PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2e7m RCSB], [https://www.ebi.ac.uk/pdbsum/2e7m PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2e7m ProSAT], [https://www.topsan.org/Proteins/RSGI/2e7m TOPSAN]</span></td></tr>
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[[2e7m]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2E7M OCA].
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/K0319_HUMAN K0319_HUMAN] Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:[https://omim.org/entry/600202 600202]; also known as specific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10% of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities and in the absence of sensory or neurological disability. Note=A lower expression is associated with the risk haplotype.<ref>PMID:16600991</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/K0319_HUMAN K0319_HUMAN] Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.<ref>PMID:19679544</ref>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/e7/2e7m_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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=2e7m ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Hayashi, F.]]
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[[Category: Large Structures]]
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[[Category: Nagashima, T.]]
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[[Category: Hayashi F]]
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[[Category: Qin, X R.]]
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[[Category: Nagashima T]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Qin XR]]
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[[Category: Yokoyama, S.]]
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[[Category: Yokoyama S]]
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[[Category: National project on protein structural and functional analyse]]
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[[Category: Nppsfa]]
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[[Category: Pkd domain]]
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[[Category: Protein kiaa0319 precursor]]
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[[Category: Riken structural genomics/proteomics initiative]]
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[[Category: Rsgi]]
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[[Category: Structural genomic]]
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[[Category: Structural protein]]
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Current revision

Solution structure of the PKD domain (329-428) from human KIAA0319

PDB ID 2e7m

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