2d99
From Proteopedia
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==Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA== | ==Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA== | ||
| - | <StructureSection load='2d99' size='340' side='right'caption='[[2d99 | + | <StructureSection load='2d99' size='340' side='right'caption='[[2d99]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2d99]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/ | + | <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> |
| - | </td></tr><tr id=' | + | </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> | <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> | </table> | ||
== Disease == | == 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 == | == 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 == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
| - | [[Category: | + | [[Category: Homo sapiens]] |
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
| - | [[Category: Doi-Katayama | + | [[Category: Doi-Katayama Y]] |
| - | [[Category: Hirota | + | [[Category: Hirota H]] |
| - | [[Category: Kigawa | + | [[Category: Kigawa T]] |
| - | [[Category: Koshiba | + | [[Category: Koshiba S]] |
| - | + | [[Category: Tochio N]] | |
| - | [[Category: Tochio | + | [[Category: Yokoyama S]] |
| - | [[Category: Yokoyama | + | |
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Current revision
Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA
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