{{위키데이터 속성 추적}}
{{Infobox_gene}}
'''PUS1'''은 사람에서 슈도유리딘 생성효소 1을 암호화하고 있는 [[유전자]]이다.<ref name="pmid10094309">{{저널 인용| 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 }}</ref><ref name="entrez">{{웹 인용| title = Entrez Gene: PUS1 pseudouridylate synthase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80324| access-date = }}</ref>

슈도유리딘 생성효소 1은 [[뉴클레오타이드]]가 [[RNA]]에 통합된 후에 [[유리딘]]을 [[슈도유리딘]]으로 변환시킨다. 슈도유리딘은 [[tRNA]]에서 기능적 역할을 할 수 있고, [[rRNA]]의 펩티딜 전이반응을 도울 수 있다.<ref name="entrez" /> PUS1 유전자 돌연변이는 미토콘드리아 근병증 및 철적혈모구빈혈과 관련이 있다.<ref>{{저널 인용| 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 }}</ref><ref>{{저널 인용| 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 }}</ref>

== 같이 보기 ==
* [[슈도유리딘 키네이스]]
* [[미토콘드리아 tRNA 슈도유리딘27/28 생성효소]]
* [[tRNA 슈도유리딘38/39 생성효소]]
* [[tRNA 슈도유리딘32 생성효소]]

== 각주 ==
{{각주}}

== 더 읽을거리 ==
{{참고 자료 시작| 2}}
* {{저널 인용| 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 }}
* {{저널 인용| 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 }}
* {{저널 인용| 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 }}
* {{저널 인용| 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 }}
* {{저널 인용| 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 }}
* {{저널 인용| 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 }}
{{참고 자료 끝}}

[[분류:인간 12번 염색체상 유전자]]
[[분류:EC 5.4.99]]