1ujy: Difference between revisions

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{{STRUCTURE_1ujy|  PDB=1ujy  |  SCENE=  }}
==Solution structure of SH3 domain in Rac/Cdc42 guanine nucleotide exchange factor(GEF) 6==
===Solution structure of SH3 domain in Rac/Cdc42 guanine nucleotide exchange factor(GEF) 6===
<StructureSection load='1ujy' size='340' side='right' caption='[[1ujy]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
 
== Structural highlights ==
==Disease==
<table><tr><td colspan='2'>[[1ujy]] 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=1UJY OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1UJY FirstGlance]. <br>
[[http://www.uniprot.org/uniprot/ARHG6_HUMAN ARHG6_HUMAN]] Defects in ARHGEF6 are the cause of mental retardation X-linked type 46 (MRX46) [MIM:[http://omim.org/entry/300436 300436]]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.<ref>PMID:11017088</ref>  
</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KAZUSA ha01154 ([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=1ujy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1ujy OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1ujy RCSB], [http://www.ebi.ac.uk/pdbsum/1ujy PDBsum], [http://www.topsan.org/Proteins/RSGI/1ujy TOPSAN]</span></td></tr>
==Function==
<table>
== Disease ==
[[http://www.uniprot.org/uniprot/ARHG6_HUMAN ARHG6_HUMAN]] Defects in ARHGEF6 are the cause of mental retardation X-linked type 46 (MRX46) [MIM:[http://omim.org/entry/300436 300436]]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.<ref>PMID:11017088</ref>
== Function ==
[[http://www.uniprot.org/uniprot/ARHG6_HUMAN ARHG6_HUMAN]] Acts as a RAC1 guanine nucleotide exchange factor (GEF).  
[[http://www.uniprot.org/uniprot/ARHG6_HUMAN ARHG6_HUMAN]] Acts as a RAC1 guanine nucleotide exchange factor (GEF).  
 
== Evolutionary Conservation ==
==About this Structure==
[[Image:Consurf_key_small.gif|200px|right]]
[[1ujy]] 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=1UJY OCA].  
Check<jmol>
 
  <jmolCheckbox>
==Reference==
    <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/uj/1ujy_consurf.spt"</scriptWhenChecked>
<references group="xtra"/><references/>
    <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: Aoki, M.]]
[[Category: Aoki, M.]]

Revision as of 21:33, 29 September 2014

Solution structure of SH3 domain in Rac/Cdc42 guanine nucleotide exchange factor(GEF) 6Solution structure of SH3 domain in Rac/Cdc42 guanine nucleotide exchange factor(GEF) 6

Structural highlights

1ujy is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Gene:KAZUSA ha01154 (Homo sapiens)
Resources:FirstGlance, OCA, RCSB, PDBsum, TOPSAN

Disease

[ARHG6_HUMAN] Defects in ARHGEF6 are the cause of mental retardation X-linked type 46 (MRX46) [MIM:300436]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.[1]

Function

[ARHG6_HUMAN] Acts as a RAC1 guanine nucleotide exchange factor (GEF).

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

  1. ↑ Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet. 2000 Oct;26(2):247-50. PMID:11017088 doi:10.1038/80002
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