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2e7m
From Proteopedia
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==Solution structure of the PKD domain (329-428) from human KIAA0319== | ==Solution structure of the PKD domain (329-428) from human KIAA0319== | ||
| - | <StructureSection load='2e7m' size='340' side='right' caption='[[2e7m | + | <StructureSection load='2e7m' size='340' side='right'caption='[[2e7m]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2e7m]] is a 1 chain structure with sequence from [ | + | <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> |
| - | </td></tr><tr><td class="sblockLbl"><b>[[ | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <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> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
| - | [ | + | [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> |
== Function == | == Function == | ||
| - | [ | + | [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> |
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
Check<jmol> | Check<jmol> | ||
<jmolCheckbox> | <jmolCheckbox> | ||
| - | <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/e7/2e7m_consurf.spt"</scriptWhenChecked> | + | <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/e7/2e7m_consurf.spt"</scriptWhenChecked> |
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
<text>to colour the structure by Evolutionary Conservation</text> | <text>to colour the structure by Evolutionary Conservation</text> | ||
</jmolCheckbox> | </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/ | + | </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]. |
<div style="clear:both"></div> | <div style="clear:both"></div> | ||
== References == | == References == | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: | + | [[Category: Large Structures]] |
| - | [[Category: | + | [[Category: Hayashi F]] |
| - | [[Category: | + | [[Category: Nagashima T]] |
| - | [[Category: | + | [[Category: Qin XR]] |
| - | [[Category: Yokoyama | + | [[Category: Yokoyama S]] |
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Current revision
Solution structure of the PKD domain (329-428) from human KIAA0319
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