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2dn4

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==Solution Structure of RSGI RUH-060, a GTF2I domain in human cDNA==
==Solution Structure of RSGI RUH-060, a GTF2I domain in human cDNA==
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<StructureSection load='2dn4' size='340' side='right' caption='[[2dn4]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
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<StructureSection load='2dn4' size='340' side='right'caption='[[2dn4]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[2dn4]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DN4 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DN4 FirstGlance]. <br>
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<table><tr><td colspan='2'>[[2dn4]] 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=2DN4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DN4 FirstGlance]. <br>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">AAC08312 ([http://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='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">AAC08312 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2dn4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dn4 OCA], [http://pdbe.org/2dn4 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2dn4 RCSB], [http://www.ebi.ac.uk/pdbsum/2dn4 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2dn4 ProSAT], [http://www.topsan.org/Proteins/RSGI/2dn4 TOPSAN]</span></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=2dn4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dn4 OCA], [https://pdbe.org/2dn4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2dn4 RCSB], [https://www.ebi.ac.uk/pdbsum/2dn4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2dn4 ProSAT], [https://www.topsan.org/Proteins/RSGI/2dn4 TOPSAN]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
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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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[[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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[[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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[[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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</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Human]]
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[[Category: Large Structures]]
[[Category: Doi-Katayama, Y]]
[[Category: Doi-Katayama, Y]]
[[Category: Hayashi, F]]
[[Category: Hayashi, F]]

Revision as of 11:30, 10 February 2021

Solution Structure of RSGI RUH-060, a GTF2I domain in human cDNA

PDB ID 2dn4

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