NSUN5

Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene.[5][6][7]

NSUN5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNSUN5, NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1), NOP2/Sun RNA methyltransferase family member 5, NOP2/Sun RNA methyltransferase 5
External IDsOMIM: 615732 MGI: 2140844 HomoloGene: 6828 GeneCards: NSUN5
Orthologs
SpeciesHumanMouse
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 MbChr 5: 135.4 – 135.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. GRCh38: Ensembl release 89: ENSG00000130305 - Ensembl, May 2017
  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.
  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.
  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.
  7. "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5".

Further reading


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