2ysq
From Proteopedia
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| - | + | ==Solution structure of the SH3 domain from Rho guanine nucleotide exchange factor 9== | |
| - | + | <StructureSection load='2ysq' size='340' side='right' caption='[[2ysq]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | |
| - | + | == Structural highlights == | |
| - | ==Disease== | + | <table><tr><td colspan='2'>[[2ysq]] 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=2YSQ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2YSQ FirstGlance]. <br> |
| - | [[http://www.uniprot.org/uniprot/ARHG9_HUMAN ARHG9_HUMAN]] Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 8 (EIEE8) [MIM:[http://omim.org/entry/300607 300607]]. A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion.<ref>PMID:15215304</ref> | + | </td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ARHGEF9, KIAA0424 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> |
| - | + | <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=2ysq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ysq OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2ysq RCSB], [http://www.ebi.ac.uk/pdbsum/2ysq PDBsum], [http://www.topsan.org/Proteins/RSGI/2ysq TOPSAN]</span></td></tr> | |
| - | ==Function== | + | <table> |
| - | [[http://www.uniprot.org/uniprot/ARHG9_HUMAN ARHG9_HUMAN]] Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.<ref>PMID:10559246</ref> | + | == Disease == |
| - | + | [[http://www.uniprot.org/uniprot/ARHG9_HUMAN ARHG9_HUMAN]] Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 8 (EIEE8) [MIM:[http://omim.org/entry/300607 300607]]. A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion.<ref>PMID:15215304</ref> | |
| - | == | + | == Function == |
| - | [[ | + | [[http://www.uniprot.org/uniprot/ARHG9_HUMAN ARHG9_HUMAN]] Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.<ref>PMID:10559246</ref> |
| - | + | == Evolutionary Conservation == | |
| - | == | + | [[Image:Consurf_key_small.gif|200px|right]] |
| - | <references | + | Check<jmol> |
| + | <jmolCheckbox> | ||
| + | <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ys/2ysq_consurf.spt"</scriptWhenChecked> | ||
| + | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
| + | <text>to colour the structure by Evolutionary Conservation</text> | ||
| + | </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/chain_selection.php?pdb_ID=2ata ConSurf]. | ||
| + | <div style="clear:both"></div> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F.]] | [[Category: Hayashi, F.]] | ||
Revision as of 05:23, 2 October 2014
Solution structure of the SH3 domain from Rho guanine nucleotide exchange factor 9
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Categories: Homo sapiens | Hayashi, F. | Qin, X R. | RSGI, RIKEN Structural Genomics/Proteomics Initiative. | Yokoyama, S. | National project on protein structural and functional analyse | Nppsfa | Riken structural genomics/proteomics initiative | Rsgi | Sh3 domain | Signaling protein | Structural genomic
