2d99

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[[Image:2d99.gif|left|200px]]
 
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{{Structure
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==Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA==
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|PDB= 2d99 |SIZE=350|CAPTION= <scene name='initialview01'>2d99</scene>
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<StructureSection load='2d99' size='340' side='right'caption='[[2d99]]' scene=''>
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|SITE=
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== Structural highlights ==
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|LIGAND=
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<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>
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|ACTIVITY=
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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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|GENE= NP005676 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])
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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=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>
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|DOMAIN=
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</table>
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|RELATEDENTRY=
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== Disease ==
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|RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2d99 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2d99 OCA], [http://www.ebi.ac.uk/pdbsum/2d99 PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=2d99 RCSB]</span>
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[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.
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}}
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== Function ==
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[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>
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'''Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA'''
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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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==About this Structure==
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<jmolCheckbox>
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2D99 is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2D99 OCA].
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/d9/2d99_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=2d99 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: Single protein]]
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[[Category: Large Structures]]
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[[Category: Doi-Katayama, Y.]]
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[[Category: Doi-Katayama Y]]
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[[Category: Hirota, H.]]
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[[Category: Hirota H]]
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[[Category: Kigawa, T.]]
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[[Category: Kigawa T]]
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[[Category: Koshiba, S.]]
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[[Category: Koshiba S]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Tochio N]]
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[[Category: Tochio, N.]]
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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 factor]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Mar 31 02:31:37 2008''
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Current revision

Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA

PDB ID 2d99

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