NSUN5 explained

Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene.^{[1] [2] [3]}

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.^[3]

Further reading

• Toward a complete human genome sequence . Genome Res. . 8 . 11 . 1097–108 . 1999 . 9847074 . 10.1101/gr.8.11.1097. free . Sanger Centre . The . Washington University Genome Sequencing Cente . The .
• Stanchi F . Characterization of 16 novel human genes showing high similarity to yeast sequences . Yeast . 18 . 1 . 69–80 . 2001 . 11124703 . 10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H . vanc. Bertocco E . Toppo S . 3 . Dioguardi . Rosario . Simionati . Barbara . Cannata . Nicola . Zimbello . Rosanna . Lanfranchi . Gerolamo . Valle . Giorgio . 21397515 . free .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Hillier LW . The DNA sequence of human chromosome 7 . Nature . 424 . 6945 . 157–64 . 2003 . 12853948 . 10.1038/nature01782 . vanc. Fulton RS . Fulton LA . 3 . Graves . Tina A. . Pepin . Kymberlie H. . Wagner-Mcpherson . Caryn . Layman . Dan . Maas . Jason . Jaeger . Sara . 2003Natur.424..157H . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Beausoleil SA . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 10.1073/pnas.0404720101 . 514446 . vanc. Jedrychowski M . Schwartz D . 3 . Elias . JE . Villén . J . Li . J . Cohn . MA . Cantley . LC . Gygi . SP . 2004PNAS..10112130B . free .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .

Notes and References

1. Doll A, Grzeschik KH . Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome . Cytogenet Cell Genet . 95 . 1–2 . 20–7 . Apr 2002 . 11978965 . 10.1159/000057012 . 21992204 .
2. Merla G, Ucla C, Guipponi M, Reymond A . Identification of additional transcripts in the Williams-Beuren syndrome critical region . Hum Genet . 110 . 5 . 429–38 . Jun 2002 . 12073013 . 10.1007/s00439-002-0710-x . 29964959 .
3. Web site: Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5.