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New page: left|200px<br /> <applet load="2d99" size="450" color="white" frame="true" align="right" spinBox="true" caption="2d99" /> '''Solution Structure of RSGI RUH-048, a GTF2I...
 
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[[Image:2d99.gif|left|200px]]<br />
<applet load="2d99" size="450" color="white" frame="true" align="right" spinBox="true"
caption="2d99" />
'''Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA'''<br />


==Disease==
==Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA==
Known diseases associated with this structure: Williams-Beuren syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604318 604318]]
<StructureSection load='2d99' size='340' side='right'caption='[[2d99]]' scene=''>
 
== Structural highlights ==
==About this Structure==
<table><tr><td colspan='2'>[[2d99]] 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=2D99 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2D99 FirstGlance]. <br>
2D99 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=2D99 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=2d99 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2d99 OCA], [https://pdbe.org/2d99 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2d99 RCSB], [https://www.ebi.ac.uk/pdbsum/2d99 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2d99 ProSAT], [https://www.topsan.org/Proteins/RSGI/2d99 TOPSAN]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/GT2D1_HUMAN GT2D1_HUMAN] Note=GTF2IRD1 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 GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
== Function ==
[https://www.uniprot.org/uniprot/GT2D1_HUMAN GT2D1_HUMAN] May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity).<ref>PMID:11438732</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/d9/2d99_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=2d99 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: Hirota, H.]]
[[Category: Hirota H]]
[[Category: Kigawa, T.]]
[[Category: Kigawa T]]
[[Category: Koshiba, S.]]
[[Category: Koshiba S]]
[[Category: RSGI, RIKEN.Structural.Genomics/Proteomics.Initiative.]]
[[Category: Tochio N]]
[[Category: Tochio, N.]]
[[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]]
 
''Page seeded by [http://ispc.weizmann.ac.il/oca OCA ] on Mon Nov 12 21:28:00 2007''
Retrieved from "https://proteopedia.org/2d99"