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{{STRUCTURE_4its| PDB=4its | SCENE= }} | |||
===Crystal structure of the catalytic domain of human Pus1 with MES in the active site=== | |||
{{ABSTRACT_PUBMED_23707380}} | |||
The entry | ==Disease== | ||
[[http://www.uniprot.org/uniprot/TRUA_HUMAN TRUA_HUMAN]] Mitochondrial myopathy and sideroblastic anemia. Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:[http://omim.org/entry/600462 600462]]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:15108122</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/TRUA_HUMAN TRUA_HUMAN]] Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity). | |||
==About this Structure== | |||
[[4its]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4ITS OCA]. | |||
==Reference== | |||
<ref group="xtra">PMID:023707380</ref><references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | |||
[[Category: Czudnochowski, N.]] | |||
[[Category: Finer-Moore, J S.]] | |||
[[Category: Stroud, R M.]] | |||
[[Category: Beta sheet]] | |||
[[Category: Isomerase]] | |||
[[Category: Pre-trna]] | |||
[[Category: Pseudouridine synthase]] | |||
[[Category: Rna binding protein]] | |||
[[Category: Rna modification]] | |||
[[Category: Steroid receptor rna activator]] | |||
[[Category: Trna]] | |||
[[Category: U2 snrna]] | |||