4j37

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Template:STRUCTURE 4j37

Contents

Crystal structure of the catalytic domain of human Pus1

Template:ABSTRACT PUBMED 23707380

Disease

[TRUA_HUMAN] Mitochondrial myopathy and sideroblastic anemia. Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM: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.[1]

Function

[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

4j37 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Czudnochowski N, Wang AL, Finer-Moore J, Stroud RM. In Human Pseudouridine Synthase 1 (hPus1), a C-Terminal Helical Insert Blocks tRNA from Binding in the Same Orientation as in the Pus1 Bacterial Homologue TruA, Consistent with Their Different Target Selectivities. J Mol Biol. 2013 May 23. pii: S0022-2836(13)00328-8. doi:, 10.1016/j.jmb.2013.05.014. PMID:23707380 doi:10.1016/j.jmb.2013.05.014
  1. ↑ Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet. 2004 Jun;74(6):1303-8. Epub 2004 Apr 22. PMID:15108122 doi:10.1086/421530

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