NSUN5

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; OMA:NSUN5 - orthologs
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 135,398,807 bp [2] End 135,405,659 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte blood mucosa of transverse colon gastrocnemius muscle bone marrow spleen muscle of thigh apex of heart gonad bone marrow cells Top expressed in interventricular septum yolk sac ascending aorta lens placode embryo aortic valve epiblast embryo morula tail of embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity S-adenosylmethionine-dependent methyltransferase activity RNA methyltransferase activity RNA binding Cellular component 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: 135.4 – 135.41 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. 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.