NSUN5

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)
End	73,308,826 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	135,405,659 bp
RNA expression pattern
	Top expressed in
	granulocyte; ; blood; ; mucosa of transverse colon; ; gastrocnemius muscle; ; bone marrow; ; spleen; ; muscle of thigh; ; apex of heart; ; gonad; ; bone marrow cells;
	Top expressed in
	interventricular septum; ; yolk sac; ; ascending aorta; ; lens placode; ; embryo; ; aortic valve; ; epiblast; ; embryo; ; morula; ; tail of embryo;
	More reference expression data
	; ; ; ;
	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
	55695
	100609
	ENSG00000130305
	ENSMUSG00000000916
	Q96P11
	Q8K4F6
	NM_001168347; NM_001168348; NM_018044; NM_148956
	NM_145414; NM_001359617
	NP_001161819; NP_001161820; NP_060514; NP_683759
	NP_663389; NP_001346546
	Wikidata
View/Edit Human	View/Edit Mouse

Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene.

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.