NSUN5 - NOP2/Sun RNA methyltransferase 5 Gene

Homo sapiens

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

Gene ID: 55695 | Gene type: protein coding

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	Reference	Source
enables rRNA (cytosine-C5-)-methyltransferase activity	IDA IDA: Inferred from direct assay	31428936	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09604	NSUN5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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