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[[Image:2ed2.png|left|200px]]


{{STRUCTURE_2ed2|  PDB=2ed2  |  SCENE=  }}
==Solution Structure of RSGI RUH-069, a GTF2I domain in human cDNA==
 
<StructureSection load='2ed2' size='340' side='right'caption='[[2ed2]]' scene=''>
===Solution Structure of RSGI RUH-069, a GTF2I domain in human cDNA===
== Structural highlights ==
 
<table><tr><td colspan='2'>[[2ed2]] 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=2ED2 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2ED2 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>
==About this Structure==
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2ed2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ed2 OCA], [https://pdbe.org/2ed2 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ed2 RCSB], [https://www.ebi.ac.uk/pdbsum/2ed2 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ed2 ProSAT], [https://www.topsan.org/Proteins/RSGI/2ed2 TOPSAN]</span></td></tr>
[[2ed2]] 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=2ED2 OCA].  
</table>
== Disease ==
[https://www.uniprot.org/uniprot/GTF2I_HUMAN GTF2I_HUMAN] Note=GTF2I is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
== Function ==
[https://www.uniprot.org/uniprot/GTF2I_HUMAN GTF2I_HUMAN] Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation.<ref>PMID:10373551</ref> <ref>PMID:11373296</ref> <ref>PMID:16738337</ref>
== 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/ed/2ed2_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=2ed2 ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Doi-Katayama, Y.]]
[[Category: Large Structures]]
[[Category: Hayashi, F.]]
[[Category: Doi-Katayama Y]]
[[Category: Hirota, H.]]
[[Category: Hayashi F]]
[[Category: Izumi, K.]]
[[Category: Hirota H]]
[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
[[Category: Izumi K]]
[[Category: Yokoyama, S.]]
[[Category: Yokoyama S]]
[[Category: Yoshida, M.]]
[[Category: Yoshida M]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Riken structural genomics/proteomics initiative]]
[[Category: Rsgi]]
[[Category: Structural genomic]]
[[Category: Transcription]]
[[Category: Transcription factor]]
[[Category: Unknown function]]
Retrieved from "https://proteopedia.org/2ed2"