2dn5: Difference between revisions
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New page: left|200px<br /> <applet load="2dn5" size="450" color="white" frame="true" align="right" spinBox="true" caption="2dn5" /> '''Solution Structure of RSGI RUH-057, a GTF2I... |
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== | ==Solution Structure of RSGI RUH-057, a GTF2I domain in human cDNA== | ||
<StructureSection load='2dn5' size='340' side='right'caption='[[2dn5]]' scene=''> | |||
== Structural highlights == | |||
== | <table><tr><td colspan='2'>[[2dn5]] 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=2DN5 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DN5 FirstGlance]. <br> | ||
</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=2dn5 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dn5 OCA], [https://pdbe.org/2dn5 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2dn5 RCSB], [https://www.ebi.ac.uk/pdbsum/2dn5 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2dn5 ProSAT], [https://www.topsan.org/Proteins/RSGI/2dn5 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/dn/2dn5_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=2dn5 ConSurf]. | |||
<div style="clear:both"></div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Doi-Katayama | [[Category: Doi-Katayama Y]] | ||
[[Category: Hayashi | [[Category: Hayashi F]] | ||
[[Category: Hirota | [[Category: Hirota H]] | ||
[[Category: Yokoyama S]] | |||
[[Category: Yokoyama | |||
