NSUN5

Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene.[5][6][7]

NSUN5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2B9E
Identifiers
Aliases	NSUN5, NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1), NOP2/Sun RNA methyltransferase family member 5, NOP2/Sun RNA methyltransferase 5
External IDs	OMIM: 615732 MGI: 2140844 HomoloGene: 6828 GeneCards: NSUN5
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 73,302,516 bp[1] End 73,308,826 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 135,369,953 bp[2] End 135,376,805 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • methyltransferase activity • transferase activity • S-adenosylmethionine-dependent methyltransferase activity • RNA methyltransferase activity • RNA binding Cellular component • cell nucleus • nucleolus Biological process • rRNA processing • methylation • rRNA base methylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55695	100609
Ensembl	ENSG00000130305	ENSMUSG00000000916
UniProt	Q96P11	Q8K4F6
RefSeq (mRNA)	NM_001168347 NM_001168348 NM_018044 NM_148956	NM_145414 NM_001359617
RefSeq (protein)	NP_001161819 NP_001161820 NP_060514 NP_683759	NP_663389 NP_001346546
Location (UCSC)	Chr 7: 73.3 – 73.31 Mb	Chr 5: 135.37 – 135.38 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000130305 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000000916 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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.
• 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.
• 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.
• 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.