PUS1
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Cleanup|date=May 2025|reason=Short description is incorrect (referring to the gene while the page itself is actually describing the enzyme); inconsistent (other articles actually name the enzyme class and mentions its role or homologues in other life forms, whereas this one seems to treat it like it's a vertebrate-specific thing).}}
{{Infobox gene}}
tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.{{cite journal | vauthors = Chen J, Patton JR | title = Cloning and characterization of a mammalian pseudouridine synthase | journal = RNA | volume = 5 | issue = 3 | pages = 409–19 | date = March 1999 | pmid = 10094309 | pmc = 1369769 | doi = 10.1017/S1355838299981591 }}{{cite web | title = Entrez Gene: PUS1 pseudouridylate synthase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80324| access-date = }}
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]. The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia.{{cite journal | vauthors = Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M | title = Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) | journal = BMJ Case Reports | volume = 2009 | pages = bcr0520091889 | date = 2009 | pmid = 21686963 | pmc = 3030164 | doi = 10.1136/bcr.05.2009.1889 }}{{cite journal | vauthors = Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N | title = Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA) | journal = American Journal of Human Genetics | volume = 74 | issue = 6 | pages = 1303–8 | date = June 2004 | pmid = 15108122 | pmc = 1182096 | doi = 10.1086/421530 }}
See also
References
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Further reading
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- {{cite journal | vauthors = Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N | title = Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA) | journal = American Journal of Human Genetics | volume = 74 | issue = 6 | pages = 1303–8 | date = June 2004 | pmid = 15108122 | pmc = 1182096 | doi = 10.1086/421530 }}
- {{cite journal | vauthors = Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X, Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S, Gu J | display-authors = 6 | title = Large-scale cDNA transfection screening for genes related to cancer development and progression | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 44 | pages = 15724–9 | date = November 2004 | pmid = 15498874 | pmc = 524842 | doi = 10.1073/pnas.0404089101 | bibcode = 2004PNAS..10115724W | doi-access = free }}
- {{cite journal | vauthors = Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N | title = Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation | journal = The Journal of Biological Chemistry | volume = 280 | issue = 20 | pages = 19823–8 | date = May 2005 | pmid = 15772074 | doi = 10.1074/jbc.M500216200 | doi-access = free }}
- {{cite journal | vauthors = Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP | title = A probability-based approach for high-throughput protein phosphorylation analysis and site localization | journal = Nature Biotechnology | volume = 24 | issue = 10 | pages = 1285–92 | date = October 2006 | pmid = 16964243 | doi = 10.1038/nbt1240 | s2cid = 14294292 }}
- {{cite journal | vauthors = Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M | title = Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) | journal = Journal of Medical Genetics | volume = 44 | issue = 3 | pages = 173–80 | date = March 2007 | pmid = 17056637 | pmc = 2598032 | doi = 10.1136/jmg.2006.045252 }}
- {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–48 | date = November 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 | s2cid = 7827573 | doi-access = free }}
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