NSUN5

NSUN5
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; GeneCards: NSUN5
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2B9E
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 cell;
	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
Databases	NCBI: entry; OMA: entry
	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.

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000130305 – Ensembl, May 2017
1 2 3 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 (April 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome". Cytogenetics and Cell Genetics. 95 (1–2): 20–27. doi:10.1159/000057012. PMID 11978965. S2CID 21992204.
↑ Merla G, Ucla C, Guipponi M, Reymond A (June 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Human Genetics. 110 (5): 429–438. doi:10.1007/s00439-002-0710-x. PMID 12073013. S2CID 29964959.
1 2 "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5".

Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, et al. (January 2001). "Characterization of 16 novel human genes showing high similarity to yeast sequences". Yeast. 18 (1). Chichester, England: 69–80. doi:10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H. PMID 11124703. S2CID 21397515.
Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000130305 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Doll_2002-5] Doll A, Grzeschik KH (April 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome". Cytogenetics and Cell Genetics. 95 (1–2): 20–27. doi:10.1159/000057012. PMID 11978965. S2CID 21992204.

[Merla_2002-6] Merla G, Ucla C, Guipponi M, Reymond A (June 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Human Genetics. 110 (5): 429–438. doi:10.1007/s00439-002-0710-x. PMID 12073013. S2CID 29964959.

[entrez-7] 1 2 "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5".

NSUN5

References

Further reading