PUS1

tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.[5][6]

PUS1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4IQM, 4ITS, 4J37, 4NZ6, 4NZ7
Identifiers
Aliases	PUS1, MLASA1, pseudouridylate synthase 1, pseudouridine synthase 1
External IDs	OMIM: 608109 MGI: 1929237 HomoloGene: 5931 GeneCards: PUS1
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q24.33 Start 131,929,200 bp[1] End 131,945,896 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 F Start 110,773,667 bp[2] End 110,780,659 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • pseudouridylate synthase activity • isomerase activity • RNA binding • pseudouridine synthase activity • tRNA binding • steroid receptor RNA activator RNA binding • tRNA pseudouridine synthase activity Cellular component • mitochondrial matrix • mitochondrion • cell nucleus Biological process • GO:0016547 RNA modification • pseudouridine synthesis • tRNA processing • mitochondrial tRNA pseudouridine synthesis • tRNA pseudouridine synthesis • mRNA pseudouridine synthesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	80324	56361
Ensembl	ENSG00000177192	ENSMUSG00000029507
UniProt	Q9Y606	Q9WU56
RefSeq (mRNA)	NM_001002019 NM_001002020 NM_025215	NM_001025561 NM_001025562 NM_019700 NM_001347390 NM_001359218 NM_001359219
RefSeq (protein)	NP_001002019 NP_001002020 NP_079491	NP_001020732 NP_001020733 NP_001334319 NP_062674 NP_001346147 NP_001346148
Location (UCSC)	Chr 12: 131.93 – 131.95 Mb	Chr 5: 110.77 – 110.78 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[supplied by OMIM][6]. The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia[7][8].

See also

• Pseudouridine kinase
• Mitochondrial tRNA pseudouridine27/28 synthase
• TRNA pseudouridine38/39 synthase
• TRNA pseudouridine32 synthase

References

1. GRCh38: Ensembl release 89: ENSG00000177192 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029507 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Chen J, Patton JR (March 1999). "Cloning and characterization of a mammalian pseudouridine synthase". RNA. 5 (3): 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.
6. "Entrez Gene: PUS1 pseudouridylate synthase 1".
7. Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (2009). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". BMJ Case Reports. 2009: bcr0520091889. doi:10.1136/bcr.05.2009.1889. PMC 3030164. PMID 21686963.
8. Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (June 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.

Further reading

• Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (June 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.
• Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, et al. (November 2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proceedings of the National Academy of Sciences of the United States of America. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
• Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N (May 2005). "Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation". The Journal of Biological Chemistry. 280 (20): 19823–8. doi:10.1074/jbc.M500216200. PMID 15772074.
• Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
• Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (March 2007). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". Journal of Medical Genetics. 44 (3): 173–80. doi:10.1136/jmg.2006.045252. PMC 2598032. PMID 17056637.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 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.