NSUN5

From Wikipedia, the free encyclopedia

NOL1/NOP2/Sun domain family, member 5

PDB rendering based on 2b9e.

Available structures: 2b9e

Identifiers

Symbol(s)

NSUN5; p120; (NOL1); FLJ10267; MGC986; NOL1R; NSUN5A; WBSCR20; WBSCR20A; p120 (NOL1)

External IDs

MGI: 2140844 HomoloGene: 6828

Gene ontology
Molecular Function:	• methyltransferase activity • transferase activity

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_018044 (mRNA)
NP_060514 (protein)

NM_145414 (mRNA)
NP_663389 (protein)

Location

Chr 7: 72.36 - 72.36 Mb

Chr 5: 135.65 - 135.66 Mb

Pubmed search

[1]

[2]

NOL1/NOP2/Sun domain family, member 5, also known as NSUN5, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5.

[edit] Further reading

"Toward a complete human genome sequence." (1999). Genome Res. 8 (11): 1097–108. 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.
Doll A, Grzeschik KH (2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.". Cytogenet. Cell Genet. 95 (1-2): 20–7. PMID 11978965.
Merla G, Ucla C, Guipponi M, Reymond A (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.
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. 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. 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. PMID 15489334.