Reactome | PUS1 isoform 2 isomerizes uridine residues to pseudouridine residues in the anticodon stems of tRNAs

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

Stable Identifier

R-HSA-6782381

Type

Reaction [transition]

Species

Homo sapiens

Compartment

nucleoplasm

ReviewStatus

5/5

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

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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, Mengesha, E, Inbal, A, Fischel-Ghodsian, N	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, Fischel-Ghodsian, N, Patton, JR	RNA	2008
17056637	Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) Fernandez-Vizarra, E, Berardinelli, A, Valente, L, Tiranti, V, Zeviani, M	J. Med. Genet.	2007