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[[Image:1ujy.gif|left|200px]]<br /><applet load="1ujy" size="350" color="white" frame="true" align="right" spinBox="true"
caption="1ujy" />
'''Solution structure of SH3 domain in Rac/Cdc42 guanine nucleotide exchange factor(GEF) 6'''<br />


==Disease==
==Solution structure of SH3 domain in Rac/Cdc42 guanine nucleotide exchange factor(GEF) 6==
Known diseases associated with this structure: Mental retardation, X-linked nonspecific, type 46 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300267 300267]]
<StructureSection load='1ujy' size='340' side='right'caption='[[1ujy]]' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[1ujy]] 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=1UJY OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1UJY FirstGlance]. <br>
</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=1ujy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1ujy OCA], [https://pdbe.org/1ujy PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1ujy RCSB], [https://www.ebi.ac.uk/pdbsum/1ujy PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1ujy ProSAT], [https://www.topsan.org/Proteins/RSGI/1ujy TOPSAN]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/ARHG6_HUMAN ARHG6_HUMAN] Defects in ARHGEF6 are the cause of mental retardation X-linked type 46 (MRX46) [MIM:[https://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 ==
[https://www.uniprot.org/uniprot/ARHG6_HUMAN ARHG6_HUMAN] Acts as a RAC1 guanine nucleotide exchange factor (GEF).
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/uj/1ujy_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/main_output.php?pdb_ID=1ujy ConSurf].
<div style="clear:both"></div>


==About this Structure==
==See Also==
1UJY is a [http://en.wikipedia.org/wiki/Single_protein Single protein] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1UJY OCA].
*[[Rho guanine nucleotide exchange factor 3D structures|Rho guanine nucleotide exchange factor 3D structures]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Single protein]]
[[Category: Large Structures]]
[[Category: Aoki, M.]]
[[Category: Aoki M]]
[[Category: He, F.]]
[[Category: He F]]
[[Category: Hirota, H.]]
[[Category: Hirota H]]
[[Category: Inoue, M.]]
[[Category: Inoue M]]
[[Category: Kigawa, T.]]
[[Category: Kigawa T]]
[[Category: Kikuno, R.]]
[[Category: Kikuno R]]
[[Category: Kobayashi, N.]]
[[Category: Kobayashi N]]
[[Category: Koshiba, S.]]
[[Category: Koshiba S]]
[[Category: Matsuda, T.]]
[[Category: Matsuda T]]
[[Category: Matsuo, Y.]]
[[Category: Matsuo Y]]
[[Category: Muto, Y.]]
[[Category: Muto Y]]
[[Category: Nagase, T.]]
[[Category: Nagase T]]
[[Category: Nagayama, M.]]
[[Category: Nagayama M]]
[[Category: Ohara, O.]]
[[Category: Ohara O]]
[[Category: Osanai, T.]]
[[Category: Osanai T]]
[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
[[Category: Seki E]]
[[Category: Seki, E.]]
[[Category: Shirouzu M]]
[[Category: Shirouzu, M.]]
[[Category: Tanaka A]]
[[Category: Tanaka, A.]]
[[Category: Terada T]]
[[Category: Terada, T.]]
[[Category: Uda H]]
[[Category: Uda, H.]]
[[Category: Yabuki T]]
[[Category: Yabuki, T.]]
[[Category: Yokoyama S]]
[[Category: Yokoyama, S.]]
[[Category: Yoshida M]]
[[Category: Yoshida, M.]]
[[Category: gef 6]]
[[Category: nmr]]
[[Category: riken structural genomics/proteomics initiative]]
[[Category: rsgi]]
[[Category: sh3 domain]]
[[Category: structural genomics]]
 
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Feb 21 15:25:17 2008''

Latest revision as of 02:54, 28 December 2023

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.
Method:Solution NMR
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT, 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.

See Also

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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