tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1gene.
PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in tRNAs and may assist in the peptidyl transfer reaction of rRNAs (Chen and Patton, 1999).[supplied by OMIM]
Patton JR, Bykhovskaya Y, Mengesha E, et al. (2005). "Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation". J. Biol. Chem. 280 (20): 19823–8. doi:10.1074/jbc.M500216200. PMID15772074.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID16964243.