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NSUN5

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene.{{cite journal |vauthors=Doll A, Grzeschik KH | title = Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome | journal = Cytogenet Cell Genet | volume = 95 | issue = 1–2 | pages = 20–7 |date=Apr 2002 | pmid = 11978965 | doi =10.1159/000057012 | s2cid = 21992204 }}{{cite journal |vauthors=Merla G, Ucla C, Guipponi M, Reymond A | title = Identification of additional transcripts in the Williams-Beuren syndrome critical region | journal = Hum Genet | volume = 110 | issue = 5 | pages = 429–38 |date=Jun 2002 | pmid = 12073013 | doi = 10.1007/s00439-002-0710-x | s2cid = 29964959 }}{{cite web | title = Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55695}}

This gene encodes a protein with similarity to p120 (NOL1), a 120-kDa proliferation-associated nucleolar antigen that is a member of an evolutionarily conserved protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

References

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Further reading

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  • {{cite journal |title=Toward a complete human genome sequence |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi= 10.1101/gr.8.11.1097|doi-access=free |last1=Sanger Centre |first1=The |last2=Washington University Genome Sequencing Cente |first2=The }}
  • {{cite journal | author=Stanchi F |title=Characterization of 16 novel human genes showing high similarity to yeast sequences |journal=Yeast |volume=18 |issue= 1 |pages= 69–80 |year= 2001 |pmid= 11124703 |doi= 10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H |name-list-style=vanc| author2=Bertocco E | author3=Toppo S | display-authors=3 | last4=Dioguardi | first4=Rosario | last5=Simionati | first5=Barbara | last6=Cannata | first6=Nicola | last7=Zimbello | first7=Rosanna | last8=Lanfranchi | first8=Gerolamo | last9=Valle | first9=Giorgio |s2cid=21397515 | doi-access=free }}
  • {{cite journal | author=Strausberg RL |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 | pmc=139241 |name-list-style=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal | author=Hillier LW |title=The DNA sequence of human chromosome 7 |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 |name-list-style=vanc| author2=Fulton RS | author3=Fulton LA | display-authors=3 | last4=Graves | first4=Tina A. | last5=Pepin | first5=Kymberlie H. | last6=Wagner-Mcpherson | first6=Caryn | last7=Layman | first7=Dan | last8=Maas | first8=Jason | last9=Jaeger | first9=Sara |bibcode=2003Natur.424..157H | doi-access=free }}
  • {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-style=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
  • {{cite journal | author=Beausoleil SA |title=Large-scale characterization of HeLa cell nuclear phosphoproteins |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 | pmc=514446 |name-list-style=vanc| author2=Jedrychowski M | author3=Schwartz D | display-authors=3 | last4=Elias | first4=JE | last5=Villén | first5=J | last6=Li | first6=J | last7=Cohn | first7=MA | last8=Cantley | first8=LC | last9=Gygi | first9=SP |bibcode=2004PNAS..10112130B |doi-access=free }}
  • {{cite journal | author=Gerhard DS |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 | pmc=528928 |name-list-style=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}

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