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)
End	73,308,826 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	135,405,659 bp
RNA expression pattern
	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
	; ; ; ;
	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
	55695
	100609
	ENSG00000130305
	ENSMUSG00000000916
	Q96P11
	Q8K4F6
	NM_001168347; NM_001168348; NM_018044; NM_148956
	NM_145414; NM_001359617
	NP_001161819; NP_001161820; NP_060514; NP_683759
	NP_663389; NP_001346546
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000130305 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000000916 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5".

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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130305 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11978965-5] 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.

[pmid12073013-6] 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.

[entrez-7] "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5".

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[5]

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[7]

References

Further reading