PUS1

Pseudouridylate synthase 1
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 4IQM​, 4ITS​, 4J37​, 4NZ6​, 4NZ7​
Identifiers
Symbols	PUS1 ; MLASA1
External IDs	OMIM: 608109 MGI: 1929237 HomoloGene: 5931 GeneCards: PUS1 Gene
EC number	5.4.99.12
Gene ontology Molecular function • pseudouridylate synthase activity • pseudouridine synthase activity • ligand-dependent nuclear receptor transcription coactivator activity • poly(A) RNA binding Cellular component • nuclear chromatin • nucleus • transcription factor complex • nucleolus • mitochondrion Biological process • tRNA pseudouridine synthesis • positive regulation of transcription from RNA polymerase II promoter Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	80324	56361
Ensembl	ENSG00000177192	ENSMUSG00000029507
UniProt	Q9Y606	Q9WU56
RefSeq (mRNA)	NM_001002019	NM_001025561
RefSeq (protein)	NP_001002019	NP_001020732
Location (UCSC)	Chr 12: 131.93 – 131.95 Mb	Chr 5: 110.77 – 110.78 Mb
PubMed search

tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.^[1][2]

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]^[2]

References

1. Chen J, Patton JR (Apr 1999). "Cloning and characterization of a mammalian pseudouridine synthase". RNA 5 (3): 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.
2. "Entrez Gene: PUS1 pseudouridylate synthase 1".

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Bykhovskaya Y, Casas K, Mengesha E, et al. (2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". Am. J. Hum. Genet. 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
• 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. PMID 15772074.
• 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. PMID 16964243.
• Fernandez-Vizarra E, Berardinelli A, Valente L, et al. (2007). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". J. Med. Genet. 44 (3): 173–80. doi:10.1136/jmg.2006.045252. PMC 2598032. PMID 17056637.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.