|
|
| (One intermediate revision not shown.) |
| Line 1: |
Line 1: |
| | | | |
| | ==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]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | + | <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 [http://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 [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2E7M FirstGlance]. <br> | + | <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 id='gene'><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 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'>[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://pdbe.org/2e7m PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2e7m RCSB], [http://www.ebi.ac.uk/pdbsum/2e7m PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2e7m ProSAT], [http://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 == |
| - | [[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> | + | [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 == |
| - | [[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> | + | [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]] |
| Line 25: |
Line 25: |
| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Human]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Hayashi, F]] | + | [[Category: Large Structures]] |
| - | [[Category: Nagashima, T]] | + | [[Category: Hayashi F]] |
| - | [[Category: Qin, X R]] | + | [[Category: Nagashima T]] |
| - | [[Category: Structural genomic]] | + | [[Category: Qin XR]] |
| - | [[Category: Yokoyama, S]] | + | [[Category: Yokoyama S]] |
| - | [[Category: National project on protein structural and functional analyse]]
| + | |
| - | [[Category: Nppsfa]]
| + | |
| - | [[Category: Pkd domain]]
| + | |
| - | [[Category: Protein kiaa0319 precursor]]
| + | |
| - | [[Category: Rsgi]]
| + | |
| - | [[Category: Structural protein]]
| + | |
| Structural highlights
Disease
K0319_HUMAN Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM: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.[1]
Function
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.[2]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Paracchini S, Thomas A, Castro S, Lai C, Paramasivam M, Wang Y, Keating BJ, Taylor JM, Hacking DF, Scerri T, Francks C, Richardson AJ, Wade-Martins R, Stein JF, Knight JC, Copp AJ, Loturco J, Monaco AP. The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Hum Mol Genet. 2006 May 15;15(10):1659-66. Epub 2006 Apr 6. PMID:16600991 doi:10.1093/hmg/ddl089
- ↑ Peschansky VJ, Burbridge TJ, Volz AJ, Fiondella C, Wissner-Gross Z, Galaburda AM, Lo Turco JJ, Rosen GD. The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat. Cereb Cortex. 2010 Apr;20(4):884-97. doi: 10.1093/cercor/bhp154. Epub 2009 Aug, 13. PMID:19679544 doi:10.1093/cercor/bhp154
|
