PUS1 isoform 1 transforms uridine-27, uridine-28 yielding pseudouridine in tRNA(Lys,Ser)

Stable Identifier
Reaction [transition]
Homo sapiens
Locations in the PathwayBrowser
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PUS1-1, the longer isoform of PUS1 located in the mitochondrion (Fernandez-Vizarra et al. 2007), converts uridine-27 and uridine-28 to pseudouridine residues in the anticodon stems of mitochondrial tRNA(Lys)(UUU) and tRNA(Ser)(UGA) (Patton et al. 2005, Fernandez-Vizarra et al. 2007, Sibert et al. 2008, Sibert and Patton 2012). Isomerization of uracil to pseudouridine creates an extra hydrogen bond donor and increases base stacking, acting to rigidify the RNA structure (reviewed in Charette and Gray 2000). As inferred from yeast Pus1p, PUS1 may also convert uridine to pseudouridine in other tRNAs and pre-tRNAs. Mutations in PUS1 cause mitochondrial myopathy and sideroblastic anemia (MLSA) (Bykhovskaya et al. 2004, Patton et al. 2005, Fernandez-Vizarra et al. 2007)
Literature References
PubMed ID Title Journal Year
15108122 Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)

Bykhovskaya, Y, Casas, K, Inbal, A, Fischel-Ghodsian, N, Mengesha, E

Am. J. Hum. Genet. 2004
18648068 Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1

Sibert, BS, Patton, JR, Fischel-Ghodsian, N

RNA 2008
22102571 Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements

Sibert, BS, Patton, JR

Nucleic Acids Res. 2012
17056637 Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Valente, L, Fernandez-Vizarra, E, Berardinelli, A, Zeviani, M, Tiranti, V

J. Med. Genet. 2007
10902565 Pseudouridine in RNA: what, where, how, and why

Charette, M, Gray, MW

IUBMB Life 2000
15772074 Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation

Bertolotto, C, Patton, JR, Bykhovskaya, Y, Fischel-Ghodsian, N, Mengesha, E

J. Biol. Chem. 2005
Event Information
Catalyst Activity

pseudouridine synthase activity of PUS1-1 [mitochondrial matrix]

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