2d9b: Difference between revisions

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New page: left|200px<br /> <applet load="2d9b" size="450" color="white" frame="true" align="right" spinBox="true" caption="2d9b" /> '''Solution Structure of RSGI RUH-052, a GTF2I...
 
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[[Image:2d9b.gif|left|200px]]<br />
<applet load="2d9b" size="450" color="white" frame="true" align="right" spinBox="true"
caption="2d9b" />
'''Solution Structure of RSGI RUH-052, a GTF2I domain in human cDNA'''<br />


==Disease==
==Solution Structure of RSGI RUH-052, a GTF2I domain in human cDNA==
Known disease associated with this structure: Williams-Beuren syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601679 601679]]
<StructureSection load='2d9b' size='340' side='right'caption='[[2d9b]]' scene=''>
 
== Structural highlights ==
==About this Structure==
<table><tr><td colspan='2'>[[2d9b]] 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=2D9B OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2D9B FirstGlance]. <br>
2D9B 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://ispc.weizmann.ac.il/oca-bin/ocashort?id=2D9B OCA].  
</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=2d9b FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2d9b OCA], [https://pdbe.org/2d9b PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2d9b RCSB], [https://www.ebi.ac.uk/pdbsum/2d9b PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2d9b ProSAT], [https://www.topsan.org/Proteins/RSGI/2d9b TOPSAN]</span></td></tr>
</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/d9/2d9b_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=2d9b ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Single protein]]
[[Category: Large Structures]]
[[Category: Doi-Katayama, Y.]]
[[Category: Doi-Katayama Y]]
[[Category: Hayashi, F.]]
[[Category: Hayashi F]]
[[Category: Hirota, H.]]
[[Category: Hirota H]]
[[Category: RSGI, RIKEN.Structural.Genomics/Proteomics.Initiative.]]
[[Category: Yokoyama S]]
[[Category: Yokoyama, S.]]
[[Category: national project on protein structural and functional analyses]]
[[Category: nppsfa]]
[[Category: riken structural genomics/proteomics initiative]]
[[Category: rsgi]]
[[Category: structural genomics]]
[[Category: transcription factor]]
[[Category: unknown function]]
 
''Page seeded by [http://ispc.weizmann.ac.il/oca OCA ] on Mon Nov 12 21:28:03 2007''

Latest revision as of 11:36, 22 May 2024

Solution Structure of RSGI RUH-052, a GTF2I domain in human cDNA

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