2ed2

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==Solution Structure of RSGI RUH-069, a GTF2I domain in human cDNA==
==Solution Structure of RSGI RUH-069, a GTF2I domain in human cDNA==
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<StructureSection load='2ed2' size='340' side='right'caption='[[2ed2]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
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<StructureSection load='2ed2' size='340' side='right'caption='[[2ed2]]' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[2ed2]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. 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>
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<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>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">GTF2I ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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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>
<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>
<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>
</table>
</table>
== Disease ==
== 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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[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 ==
== Function ==
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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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[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 ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Human]]
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[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
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[[Category: Doi-Katayama, Y]]
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[[Category: Doi-Katayama Y]]
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[[Category: Hayashi, F]]
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[[Category: Hayashi F]]
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[[Category: Hirota, H]]
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[[Category: Hirota H]]
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[[Category: Izumi, K]]
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[[Category: Izumi K]]
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[[Category: Structural genomic]]
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[[Category: Yokoyama S]]
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[[Category: Yokoyama, S]]
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[[Category: Yoshida M]]
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[[Category: Yoshida, M]]
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[[Category: National project on protein structural and functional analyse]]
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[[Category: Nppsfa]]
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[[Category: Rsgi]]
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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-069, a GTF2I domain in human cDNA

PDB ID 2ed2

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