Protein-coding gene in the species Homo sapiens
Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene .[5] [6] [7]
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.[7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000130305 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000916 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Doll A, Grzeschik KH (Apr 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome". Cytogenet Cell Genet . 95 (1–2): 20–7. doi :10.1159/000057012 . PMID 11978965 . S2CID 21992204 . ^ Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet . 110 (5): 429–38. doi :10.1007/s00439-002-0710-x . PMID 12073013 . S2CID 29964959 . ^ a b "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5" .
Further reading
Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence" . Genome Res . 8 (11): 1097–108. doi :10.1101/gr.8.11.1097 PMID 9847074 . Stanchi F, Bertocco E, Toppo S, et al. (2001). "Characterization of 16 novel human genes showing high similarity to yeast sequences" . Yeast . 18 (1): 69–80. doi :10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H PMID 11124703 . S2CID 21397515 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7" . Nature . 424 (6945): 157–64. Bibcode :2003Natur.424..157H . doi :10.1038/nature01782 PMID 12853948 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins" . Proc. Natl. Acad. Sci. U.S.A . 101 (33): 12130–5. Bibcode :2004PNAS..10112130B . doi :10.1073/pnas.0404720101 PMC 514446 PMID 15302935 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 .
