NSUN5

NSUN5

Available structures

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]
Band	7q11.23	End	73,308,826 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5\|5 G2	Start	135,398,807 bp^[2]
Band	5\|5 G2	End	135,405,659 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

blood

gastrocnemius muscle

bone marrow

spleen

bone marrow cells

skeletal muscle tissue

lymph node

body of pancreas

right uterine tube

monocyte

Top expressed in

interventricular septum

yolk sac

ascending aorta

aortic valve

morula

cumulus cell

thymus

supraoptic nucleus

proximal tubule

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

^ ^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.

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2b9e: Human NSUN5 protein

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This page was last edited on 24 September 2023, at 21:03

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References

Further reading