PUS1 isoform 2 transforms uridine residues to pseudouridine in the anticodon stems of tRNAs

Stable Identifier
Reaction [transition]
Homo sapiens
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The shorter isoform of PUS1, PUS1-2, converts uridine to pseudouridine in the anticodon stem of tRNAs in the nucleus (Fernandez-Vizarra et al. 2007, Sibert et al. 2008). The longer isoform of PUS1 (PUS1-1) is present in mitochondria; a shorter isoform of PUS1 (PUS1-2) possessing a different N-terminus is present in the nucleus (Fernandez-Vizarra et al. 2007). In contrast, the yeast Saccharomyces cerevisiae has 2 genes: PUS1 which encodes the nuclear enzyme and PUS2 which encodes the mitochodrial enzyme. PUS1 and its substrates are conserved from yeast to humans. Like the yeast homologue, Pus1p, human PUS1 may also act on additional tRNAs, pre-tRNAs, and U2 snRNA. Mutations in PUS1 cause mitochondrial myopathy and sideroblastic anemia (MLASA) (Bykhovskaya et al. 2004, 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
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
Event Information
Go Biological Process
Catalyst Activity

pseudouridine synthase activity of PUS1-2 [nucleoplasm]

Inferred From
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