NSUN5

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

PDBOrtholog search: PDBe RCSB

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; OMA:NSUN5 - orthologs

Chr.Chromosome 7 (human)^[1]

Quick facts Available structures, PDB ...

NSUN5
Available structures PDB 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] End 73,308,826 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 135,398,807 bp[2] End 135,405,659 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 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]
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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]