PUS1

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; OMA:PUS1 - orthologs
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 110,921,533 bp [2] End 110,928,525 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte mucosa of transverse colon right lobe of liver gonad spleen right adrenal gland left adrenal gland body of pancreas left adrenal cortex right adrenal cortex Top expressed in yolk sac primitive streak right kidney proximal tubule endothelial cell of lymphatic vessel seminal vesicula epiblast embryo ventricular zone lip More reference expression data BioGPS 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 nucleus Biological process 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: 110.92 – 110.93 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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) S1355838299981591: 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. S2CID   14294292.
• 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. S2CID   7827573.