View source for 4cdo


==Crystal structure of PQBP1 bound to spliceosomal U5-15kD==
<StructureSection load='4cdo' size='340' side='right'caption='[[4cdo]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[4cdo]] is a 2 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=4CDO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4CDO FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.5&#8491;</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=4cdo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4cdo OCA], [https://pdbe.org/4cdo PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4cdo RCSB], [https://www.ebi.ac.uk/pdbsum/4cdo PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4cdo ProSAT]</span></td></tr>
</table>
== Disease ==
[https://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 ==
[https://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> [https://www.uniprot.org/uniprot/TXN4A_HUMAN TXN4A_HUMAN] Essential role in pre-mRNA splicing.
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== Publication Abstract from PubMed ==
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.

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>

From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
</div>
<div class="pdbe-citations 4cdo" style="background-color:#fffaf0;"></div>

==See Also==
*[[U5-15kD|U5-15kD]]
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Kojima R]]
[[Category: Mizuguchi M]]
[[Category: Nabeshima Y]]
[[Category: Obita T]]
[[Category: Okazawa H]]
[[Category: Serita T]]