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4bws

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<StructureSection load='4bws' size='340' side='right'caption='[[4bws]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
<StructureSection load='4bws' size='340' side='right'caption='[[4bws]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[4bws]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4BWS OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4BWS FirstGlance]. <br>
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<table><tr><td colspan='2'>[[4bws]] is a 6 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4BWS OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4BWS FirstGlance]. <br>
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</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[4bwq|4bwq]]</td></tr>
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</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=4bws FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4bws OCA], [https://pdbe.org/4bws PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4bws RCSB], [https://www.ebi.ac.uk/pdbsum/4bws PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4bws ProSAT]</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=4bws FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4bws OCA], [http://pdbe.org/4bws PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4bws RCSB], [http://www.ebi.ac.uk/pdbsum/4bws PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4bws ProSAT]</span></td></tr>
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</table>
</table>
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== Disease ==
 
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[[http://www.uniprot.org/uniprot/PQBP1_HUMAN PQBP1_HUMAN]] X-linked intellectual deficit, Sutherland-Haan type;X-linked intellectual deficit, Golabi-Ito-Hall type;X-linked intellectual deficit, Porteous type;Hamel cerebro-palato-cardiac syndrome. The disease is caused by mutations affecting the gene represented in this entry.
 
== Function ==
== Function ==
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[[http://www.uniprot.org/uniprot/TXN4A_HUMAN TXN4A_HUMAN]] Essential role in pre-mRNA splicing. [[http://www.uniprot.org/uniprot/PQBP1_HUMAN PQBP1_HUMAN]] May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit.<ref>PMID:10332029</ref> <ref>PMID:10198427</ref> <ref>PMID:12062018</ref>
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[[https://www.uniprot.org/uniprot/TXN4A_HUMAN TXN4A_HUMAN]] Essential role in pre-mRNA splicing.
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<div style="background-color:#fffaf0;">
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== Publication Abstract from PubMed ==
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A loss-of-function of polyglutamine tract-binding protein 1 (PQBP1) induced by frameshift mutations is believed to cause X-linked mental retardation. However, the mechanism by which structural changes in PQBP1 lead to mental retardation is unknown. Here we present the crystal structure of a C-terminal fragment of PQBP1 in complex with the spliceosomal protein U5-15kD. The U5-15kD hydrophobic groove recognizes a YxxPxxVL motif in PQBP1, and mutations within this motif cause a loss-of-function phenotype of PQBP1 in vitro. The YxxPxxVL motif is absent in all PQBP1 frameshift mutants seen in cases of mental retardation. These results suggest a mechanism by which the loss of the YxxPxxVL motif could lead to the functional defects seen in this type of mental retardation.
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Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15kD.,Mizuguchi M, Obita T, Serita T, Kojima R, Nabeshima Y, Okazawa H Nat Commun. 2014 Apr 30;5:3822. doi: 10.1038/ncomms4822. PMID:24781215<ref>PMID:24781215</ref>
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From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
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</div>
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<div class="pdbe-citations 4bws" style="background-color:#fffaf0;"></div>
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==See Also==
==See Also==
*[[U5-15kD|U5-15kD]]
*[[U5-15kD|U5-15kD]]
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== References ==
 
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<references/>
 
__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Human]]
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[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
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[[Category: Kojima, R]]
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[[Category: Kojima R]]
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[[Category: Mizuguchi, M]]
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[[Category: Mizuguchi M]]
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[[Category: Morimoto, T]]
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[[Category: Morimoto T]]
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[[Category: Nabeshima, Y]]
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[[Category: Nabeshima Y]]
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[[Category: Obita, T]]
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[[Category: Obita T]]
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[[Category: Okazawa, H]]
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[[Category: Okazawa H]]
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[[Category: Serita, T]]
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[[Category: Serita T]]
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[[Category: Neurodegenerative disorder]]
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[[Category: Transcription]]
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Revision as of 17:13, 7 September 2022

Crystal structure of the heterotrimer of PQBP1, U5-15kD and U5-52kD.

PDB ID 4bws

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