NSUN5

NSUN5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases NSUN5, NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1), NOP2/Sun RNA methyltransferase family member 5
External IDs MGI: 2140844 HomoloGene: 6828 GeneCards: NSUN5
RNA expression pattern




More reference expression data
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

RefSeq (protein)

NP_001161819.1
NP_001161820.1
NP_060514.1
NP_683759.1

NP_663389.2

Location (UCSC) Chr 7: 73.3 – 73.31 Mb Chr 5: 135.37 – 135.38 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene.[3][4][5]

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.[5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5".

Further reading


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