4bws: Difference between revisions
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''' | ==Crystal structure of the heterotrimer of PQBP1, U5-15kD and U5-52kD.== | ||
<StructureSection load='4bws' size='340' side='right' caption='[[4bws]], [[Resolution|resolution]] 2.50Å' scene=''> | |||
== Structural highlights == | |||
[[4bws]] is a 6 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4BWS OCA]. <br> | |||
<b>Related:</b> [[4bwq|4bwq]]<br> | |||
<b>Activity:</b> <span class='plainlinks'>[http://en.wikipedia.org/wiki/Glucokinase Glucokinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.1.2 2.7.1.2] </span><br> | |||
== Disease == | |||
[[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 == | |||
[[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> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Kojima, R.]] | |||
[[Category: Mizuguchi, M.]] | |||
[[Category: Morimoto, T.]] | |||
[[Category: Nabeshima, Y.]] | |||
[[Category: Obita, T.]] | |||
[[Category: Okazawa, H.]] | |||
[[Category: Serita, T.]] | |||
[[Category: Neurodegenerative disorder]] | |||
[[Category: Transcription]] | |||
Revision as of 07:56, 30 April 2014
Crystal structure of the heterotrimer of PQBP1, U5-15kD and U5-52kD.
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