2e7m

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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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===Solution structure of the PKD domain (329-428) from human KIAA0319===
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<StructureSection load='2e7m' size='340' side='right' caption='[[2e7m]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
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== Structural highlights ==
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==Disease==
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<table><tr><td colspan='2'>[[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]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2E7M FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/K0319_HUMAN K0319_HUMAN]] Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:[http://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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</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA0319 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2e7m FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2e7m OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2e7m RCSB], [http://www.ebi.ac.uk/pdbsum/2e7m PDBsum], [http://www.topsan.org/Proteins/RSGI/2e7m TOPSAN]</span></td></tr>
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==Function==
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<table>
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[[http://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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== Disease ==
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[[http://www.uniprot.org/uniprot/K0319_HUMAN K0319_HUMAN]] Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:[http://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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==About this Structure==
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== Function ==
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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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[[http://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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==Reference==
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[[Image:Consurf_key_small.gif|200px|right]]
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<references group="xtra"/><references/>
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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/chain_selection.php?pdb_ID=2ata 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]]
[[Category: Hayashi, F.]]
[[Category: Hayashi, F.]]

Revision as of 02:38, 30 September 2014

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

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