2d9b: Difference between revisions
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==Solution Structure of RSGI RUH-052, a GTF2I domain in human cDNA== | ==Solution Structure of RSGI RUH-052, a GTF2I domain in human cDNA== | ||
<StructureSection load='2d9b' size='340' side='right' caption='[[2d9b]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | <StructureSection load='2d9b' size='340' side='right'caption='[[2d9b]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2d9b]] is a 1 chain structure with sequence from [ | <table><tr><td colspan='2'>[[2d9b]] 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=2D9B OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2D9B FirstGlance]. <br> | ||
</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">AAC08312 ([ | </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> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | <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> | </table> | ||
== Disease == | == 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 == | == 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 == | == 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]] | ||
[[Category: Large Structures]] | |||
[[Category: Doi-Katayama, Y]] | [[Category: Doi-Katayama, Y]] | ||
[[Category: Hayashi, F]] | [[Category: Hayashi, F]] | ||
Revision as of 11:56, 3 February 2021
Solution Structure of RSGI RUH-052, a GTF2I domain in human cDNA
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