NSUN5

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NSUN5
Protein NSUN5 PDB 2b9e.png
Available structures
PDB Ortholog 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
PBB GE NSUN5 213460 x at fs.png

PBB GE NSUN5 203802 x at fs.png

PBB GE NSUN5 213670 x at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001168347
NM_001168348
NM_018044
NM_148956

NM_145414

RefSeq (protein)

NP_001161819
NP_001161820
NP_060514
NP_683759

NP_663389.2
NP_663389

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

  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. ^ a b "Entrez Gene: NSUN5 NOL1/NOP2/Sun domain family, member 5". 

Further reading[edit]