- PUS1
Pseudouridylate synthase 1, also known as PUS1, is a human
gene .cite web | title = Entrez Gene: PUS1 pseudouridylate synthase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80324| accessdate = ]PBB_Summary
section_title =
summary_text = 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] cite web | title = Entrez Gene: PUS1 pseudouridylate synthase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80324| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Chen J, Patton JR |title=Cloning and characterization of a mammalian pseudouridine synthase. |journal=RNA |volume=5 |issue= 3 |pages= 409–19 |year= 1999 |pmid= 10094309 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Bykhovskaya Y, Casas K, Mengesha E, "et al." |title=Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). |journal=Am. J. Hum. Genet. |volume=74 |issue= 6 |pages= 1303–8 |year= 2004 |pmid= 15108122 |doi= 10.1086/421530
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Wan D, Gong Y, Qin W, "et al." |title=Large-scale cDNA transfection screening for genes related to cancer development and progression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 44 |pages= 15724–9 |year= 2004 |pmid= 15498874 |doi= 10.1073/pnas.0404089101
*cite journal | author=Patton JR, Bykhovskaya Y, Mengesha E, "et al." |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=J. Biol. Chem. |volume=280 |issue= 20 |pages= 19823–8 |year= 2005 |pmid= 15772074 |doi= 10.1074/jbc.M500216200
*cite journal | author=Beausoleil SA, Villén J, Gerber SA, "et al." |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240
*cite journal | author=Fernandez-Vizarra E, Berardinelli A, Valente L, "et al." |title=Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). |journal=J. Med. Genet. |volume=44 |issue= 3 |pages= 173–80 |year= 2007 |pmid= 17056637 |doi= 10.1136/jmg.2006.045252
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026PBB_Controls
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