2ysq
From Proteopedia
(Difference between revisions)
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==Solution structure of the SH3 domain from Rho guanine nucleotide exchange factor 9== | ==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=''> | + | <StructureSection load='2ysq' size='340' side='right'caption='[[2ysq]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
- | <table><tr><td colspan='2'>[[2ysq]] is a 1 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[2ysq]] 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=2YSQ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2YSQ FirstGlance]. <br> |
- | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ARHGEF9, KIAA0424 ([ | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ARHGEF9, KIAA0424 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> |
- | <tr id='resources'><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=2ysq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ysq OCA], [https://pdbe.org/2ysq PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ysq RCSB], [https://www.ebi.ac.uk/pdbsum/2ysq PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ysq ProSAT], [https://www.topsan.org/Proteins/RSGI/2ysq TOPSAN]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
- | [[ | + | [[https://www.uniprot.org/uniprot/ARHG9_HUMAN ARHG9_HUMAN]] Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 8 (EIEE8) [MIM:[https://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 == | == Function == | ||
- | [[ | + | [[https://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 == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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==See Also== | ==See Also== | ||
- | *[[Rho guanine nucleotide exchange factor|Rho guanine nucleotide exchange factor]] | + | *[[Rho guanine nucleotide exchange factor 3D structures|Rho guanine nucleotide exchange factor 3D structures]] |
== References == | == References == | ||
<references/> | <references/> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Human]] | [[Category: Human]] | ||
+ | [[Category: Large Structures]] | ||
[[Category: Hayashi, F]] | [[Category: Hayashi, F]] | ||
[[Category: Qin, X R]] | [[Category: Qin, X R]] |
Revision as of 13:37, 24 November 2021
Solution structure of the SH3 domain from Rho guanine nucleotide exchange factor 9
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