NSUN5 - NOP2/Sun RNA methyltransferase 5 Gene

Also Known as NOL1; p120; NOL1R; NSUN5A; WBSCR20; WBSCR20A; p120(NOL1)

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55695

About NSUN5

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,302,516-73,308,826 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 17.7), lymph node (RPKM 12.4) and 25 other tissues.

Summary

This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

NSUN5 Products (4)

mRNA	Protein	Name
NM_001168347.3	NP_001161819.1	28S rRNA (cytosine-C(5))-methyltransferase isoform 3
NM_001168348.3	NP_001161820.1	28S rRNA (cytosine-C(5))-methyltransferase isoform 4
NM_018044.5	NP_060514.1	28S rRNA (cytosine-C(5))-methyltransferase isoform 2
NM_148956.4	NP_683759.1	28S rRNA (cytosine-C(5))-methyltransferase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables rRNA (cytosine-C5-)-methyltransferase activity	IDA IDA: Inferred from direct assay	31428936	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of translation	IMP IMP: Inferred from mutant phenotype	31428936	GOA
involved in rRNA base methylation	IDA IDA: Inferred from direct assay	31428936	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleolus	IDA IDA: Inferred from direct assay	31722427	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NSUN5 Protein Structure

Methyltr_RsmB-F

0
100
200
300
400
429 a.a.

Protein Preferred Names	Protein Names
28S rRNA (cytosine-C(5))-methyltransferase	NOL1-related protein

NSUN5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86992	NSUN5 Antibody (YA6685)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Ehrlichiosis	Human Ehrlichiosis He Hey
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Cardiomyopathy, Familial Restrictive, 1	RCM1 Restrictive Cardiomyopathy 1 Rcm Familial Restrictive Cardiomyopathy 1 Cardiomyopathy, Familial Restrictive 1 Cardiomyopathy, Restrictive, Familial, Type 1 Rcm-1
Dubowitz Syndrome	Dubowitz'S Syndrome Dwarfism-Eczema-Peculiar Facies Syndrome Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
B-Lymphoblastic Leukemia/Lymphoma With Hyperdiploidy	B-All With Hyperdiploidy B Lymphoblastic Leukemia Lymphoma With Hyperdiploidy
Bowen-Conradi Syndrome	BWCNS Bowen Hutterite Syndrome Bowen-Conradi Hutterite Syndrome Bowen Syndrome, Hutterite Type Bowen Hutterite Syndrome, Formerly Hutterite Syndrome Bowen Syndrome Hutterite Type Fetal Growth Retardation
Supravalvular Aortic Stenosis	SVAS Supravalvar Aortic Stenosis Supravalvar Aortic Stenosis, Eisenberg Type Aortic Supravalvular Stenosis Aortic Stenosis, Supravalvular Supra-Valvular Aortic Stenosis Stenosis, Aortic Supravalvular Stenosis, Supravalvular Aortic Supravalvular Stenosis, Aortic Aortic Stenosis Supravalvular
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09604	NSUN5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22693	Nsun5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29207	Nsun5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NSUN5	VGNC	VGNC:75412
Canis familiaris	NSUN5	VGNC	VGNC:59396
Mus musculus	NSUN5	MGD	MGI:2140844
Rattus norvegicus	NSUN5	RGD	RGD:1309268
Felis catus	NSUN5	VGNC	VGNC:63894
Others	NSUN5	NCBI