2ed2

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== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2ed2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2ED2 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2ED2 FirstGlance]. <br>
<table><tr><td colspan='2'>[[2ed2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2ED2 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2ED2 FirstGlance]. <br>
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</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">GTF2I ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">GTF2I ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2ed2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ed2 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2ed2 RCSB], [http://www.ebi.ac.uk/pdbsum/2ed2 PDBsum], [http://www.topsan.org/Proteins/RSGI/2ed2 TOPSAN]</span></td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2ed2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ed2 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2ed2 RCSB], [http://www.ebi.ac.uk/pdbsum/2ed2 PDBsum], [http://www.topsan.org/Proteins/RSGI/2ed2 TOPSAN]</span></td></tr>
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<table>
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</table>
== Disease ==
== Disease ==
[[http://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.
[[http://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.
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</StructureSection>
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Doi-Katayama, Y.]]
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[[Category: Doi-Katayama, Y]]
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[[Category: Hayashi, F.]]
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[[Category: Hayashi, F]]
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[[Category: Hirota, H.]]
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[[Category: Hirota, H]]
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[[Category: Izumi, K.]]
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[[Category: Izumi, K]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Structural genomic]]
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[[Category: Yokoyama, S.]]
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[[Category: Yokoyama, S]]
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[[Category: Yoshida, M.]]
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[[Category: Yoshida, M]]
[[Category: National project on protein structural and functional analyse]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Nppsfa]]
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[[Category: Riken structural genomics/proteomics initiative]]
 
[[Category: Rsgi]]
[[Category: Rsgi]]
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[[Category: Structural genomic]]
 
[[Category: Transcription]]
[[Category: Transcription]]
[[Category: Transcription factor]]
[[Category: Transcription factor]]
[[Category: Unknown function]]
[[Category: Unknown function]]

Revision as of 17:24, 15 January 2015

Solution Structure of RSGI RUH-069, a GTF2I domain in human cDNA

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