2e7m

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Current revision (18:48, 29 May 2024) (edit) (undo)
 
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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==
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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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<StructureSection load='2e7m' size='340' side='right'caption='[[2e7m]]' scene=''>
== Structural highlights ==
== 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/Human Human]. 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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<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='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KIAA0319 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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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>
<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>
<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 ==
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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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[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 ==
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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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[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]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Human]]
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[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
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[[Category: Hayashi, F]]
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[[Category: Hayashi F]]
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[[Category: Nagashima, T]]
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[[Category: Nagashima T]]
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[[Category: Qin, X R]]
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[[Category: Qin XR]]
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[[Category: Structural genomic]]
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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: Rsgi]]
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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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