2d9b

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{{STRUCTURE_2d9b| PDB=2d9b | SCENE= }}
 
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===Solution Structure of RSGI RUH-052, a GTF2I domain in human cDNA===
 
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==Disease==
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==Solution Structure of RSGI RUH-052, a GTF2I domain in human cDNA==
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[[http://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.
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<StructureSection load='2d9b' size='340' side='right'caption='[[2d9b]]' scene=''>
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== Structural highlights ==
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==Function==
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<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>
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[[http://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>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
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<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>
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==About this Structure==
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</table>
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[[2d9b]] 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=2D9B OCA].
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== Disease ==
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[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.
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==Reference==
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== Function ==
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<references group="xtra"/><references/>
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[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>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/d9/2d9b_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Doi-Katayama, Y.]]
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[[Category: Large Structures]]
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[[Category: Hayashi, F.]]
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[[Category: Doi-Katayama Y]]
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[[Category: Hirota, H.]]
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[[Category: Hayashi F]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Hirota H]]
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[[Category: Yokoyama, S.]]
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[[Category: Yokoyama S]]
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[[Category: National project on protein structural and functional analyse]]
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[[Category: Nppsfa]]
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[[Category: Riken structural genomics/proteomics initiative]]
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[[Category: Rsgi]]
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[[Category: Structural genomic]]
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[[Category: Transcription]]
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[[Category: Transcription factor]]
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[[Category: Unknown function]]
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Current revision

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

PDB ID 2d9b

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