2e3l
From Proteopedia
(Difference between revisions)
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<StructureSection load='2e3l' size='340' side='right' caption='[[2e3l]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | <StructureSection load='2e3l' size='340' side='right' caption='[[2e3l]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2e3l]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/ | + | <table><tr><td colspan='2'>[[2e3l]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2E3L OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2E3L FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">GTF2IRD2B ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">GTF2IRD2B ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> |
| - | <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=2e3l FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2e3l OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2e3l RCSB], [http://www.ebi.ac.uk/pdbsum/2e3l PDBsum], [http://www.topsan.org/Proteins/RSGI/2e3l TOPSAN]</span></td></tr> | + | <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=2e3l FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2e3l OCA], [http://pdbe.org/2e3l PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2e3l RCSB], [http://www.ebi.ac.uk/pdbsum/2e3l PDBsum], [http://www.topsan.org/Proteins/RSGI/2e3l TOPSAN]</span></td></tr> |
</table> | </table> | ||
| + | == Disease == | ||
| + | [[http://www.uniprot.org/uniprot/GTD2B_HUMAN GTD2B_HUMAN]] GTF2IRD2B 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. | ||
== 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: Human]] |
[[Category: Doi-Katayama, Y]] | [[Category: Doi-Katayama, Y]] | ||
[[Category: Hayashi, F]] | [[Category: Hayashi, F]] | ||
Revision as of 10:04, 10 September 2015
Solution Structure of RSGI RUH-068, a GTF2I domain in human cDNA
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