NSUN3 - NOP2/Sun RNA methyltransferase 3 Gene

Homo sapiens

Also known as MST077; COXPD48; MSTP077

Gene ID: 63899 | Gene type: protein coding

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	Reference	Source
enables tRNA (cytidine-5-)-methyltransferase activity	IDA IDA: Inferred from direct assay	27214402	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09602	NSUN3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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