NSUN3 - NOP2/Sun RNA methyltransferase 3 Gene

Also Known as MST077; COXPD48; MSTP077

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 63899

About NSUN3

Cytogenetic location: 3q11.2 Genomic coordinates (GRCh38): 3:94,063,061-94,131,832 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 4.7) and 25 other tissues.

Summary

Enables tRNA (cytosine-5-)-methyltransferase activity. Involved in regulation of mitochondrial translation and tRNA wobble base cytosine methylation. Located in mitochondrial matrix. Implicated in combined Oxidative Phosphorylation deficiency 48. [provided by Alliance of Genome Resources, Apr 2022]

NSUN3 Products (1)

mRNA	Protein	Name
NM_022072.5	NP_071355.1	tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables tRNA (cytidine-5-)-methyltransferase activity	IDA IDA: Inferred from direct assay	27214402	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of mitochondrial translation	IMP IMP: Inferred from mutant phenotype	27356879	GOA
involved in tRNA wobble base cytosine methylation	IDA IDA: Inferred from direct assay	27214402	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	27497299	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	27214402	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

NSUN3 Protein Structure

Methyltr_RsmB-F

0
100
200
300
340 a.a.

Protein Preferred Names	Protein Names
tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial	NOL1/NOP2/Sun domain family member 3

NSUN3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86990	NSUN3 Antibody (YA6683)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 48	COXPD48
Combined Oxidative Phosphorylation Deficiency
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Metabolic Acidosis
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
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
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
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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-RS21671	Nsun3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09602	NSUN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28189	Nsun3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NSUN3	VGNC	VGNC:43991
Macaca mulatta	NSUN3	VGNC	VGNC:75468
Mus musculus	NSUN3	MGD	MGI:2146565
Felis catus	NSUN3	VGNC	VGNC:63893
Rattus norvegicus	NSUN3	RGD	RGD:2322119
Bos taurus	NSUN3	VGNC	VGNC:32286
Others	NSUN3	NCBI