NSUN5
| NOP2/Sun domain family, member 5 | |||||||||||||
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PDB rendering based on 2b9e. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | NSUN5 ; NOL1; NOL1R; NSUN5A; WBSCR20; WBSCR20A; p120; p120(NOL1) | ||||||||||||
| External IDs | OMIM: 615732 MGI: 2140844 HomoloGene: 6828 GeneCards: NSUN5 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 55695 | 100609 | |||||||||||
| Ensembl | ENSG00000130305 | ENSMUSG00000000916 | |||||||||||
| UniProt | Q96P11 | Q8K4F6 | |||||||||||
| RefSeq (mRNA) | NM_001168347 | NM_145414 | |||||||||||
| RefSeq (protein) | NP_001161819 | NP_663389 | |||||||||||
| Location (UCSC) |
Chr 7: 73.3 – 73.31 Mb |
Chr 5: 135.37 – 135.38 Mb | |||||||||||
| PubMed search | |||||||||||||
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
- ↑ 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.
- ↑ 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.
- 1 2 "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5".
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.
- 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.
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