tRNA pseudouridine synthase A; tRNA-uridine isomerase 1; tRNA pseudouridylate synthase 1 (PUS1, PP8985)

Function

• converts specific uridines to PSI in a number of tRNA substrates
• regulation of nuclear receptor activity via pseudouridylation of SRA1 RNA (putative)
• forms a complex with RARG & the SRA1 RNA in the nucleus

Structure

• belongs to the tRNA pseudouridine synthase TruA family

Compartment

nucleus

Expression

• widely expressed
• high levels of expression in brain & skeletal muscle

Pathology

• defects in PUS1 are a cause of MLASA

More general terms

• tRNA pseudouridine synthase

Additional terms

• myopathy with lactic acidosis & sideroblastic anemia; mitochondrial myopathy & sideroblastic anemia (MLASA)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=80324
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:80324
• OMIM: https://mirror.omim.org/entry/600462
• OMIM: https://mirror.omim.org/entry/608109
• UniProt: http://www.uniprot.org/uniprot/Q9Y606.html