NSUN5

NOP2/Sun domain family, member 5
PDB rendering based on 2b9e.
Available structures PDB 2b9e
Identifiers
Symbols	NSUN5; FLJ10267; MGC986; NOL1; NOL1R; NSUN5A; WBSCR20; WBSCR20A; p120
External IDs	MGI: 2140844 HomoloGene: 6828 GeneCards: NSUN5 Gene
Gene Ontology Molecular function • methyltransferase activity • transferase activity Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	55695	100609
Ensembl	ENSG00000130305	ENSMUSG00000000916
UniProt	Q96P11	Q8K4F6
RefSeq (mRNA)	NM_001168347.1	NM_145414.2
RefSeq (protein)	NP_001161819.1	NP_663389.2
Location (UCSC)	Chr 7: 72.72 – 72.72 Mb	Chr 5: 135.85 – 135.85 Mb
PubMed search	[1]	[2]

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]

References

1. ^ 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. 
2. ^ 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. 
3. ^ ^{a b} "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55695. 

Further reading

• "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. 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. 
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Hillier LW, Fulton RS, Fulton LA et al. (2003). "The DNA sequence of human chromosome 7". Nature 424 (6945): 157–64. 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. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=514446. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.