NSUN6 - NOP2/Sun RNA methyltransferase 6 Gene

Homo sapiens

Also known as NOPD1; ARL5B-AS1; 4933414E04Rik

Gene ID: 221078 | Gene type: protein coding

About NSUN6

Cytogenetic location: 10p12.31 Genomic coordinates (GRCh38): 10:18,545,561-18,659,327 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 4.8), liver (RPKM 4.1) and 25 other tissues.

Summary

Enables tRNA (cytosine-5-)-methyltransferase activity and tRNA binding activity. Involved in tRNA C5-cytosine methylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

NSUN6 Products(5)

mRNA	Protein	Name
NM_001351115.2	NP_001338044.1	tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 2
NM_001351116.2	NP_001338045.1	tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 3
NM_001351117.2	NP_001338046.1	tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 4
NM_001351118.2	NP_001338047.1	tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 5
NM_182543.5	NP_872349.1	tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables tRNA (cytidine-5-)-methyltransferase activity	EXP EXP: Inferred from Experiment	26160102	GOA
enables tRNA (cytidine-5-)-methyltransferase activity	IDA IDA: Inferred from direct assay	26160102	GOA
enables tRNA binding	IDA IDA: Inferred from direct assay	26160102	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in tRNA C5-cytosine methylation	IDA IDA: Inferred from direct assay	26160102	GOA
involved in tRNA methylation	IDA IDA: Inferred from direct assay	28531330	GOA
involved in tRNA modification	IDA IDA: Inferred from direct assay	37226891	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	26160102	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

NSUN6 Protein Structure

Methyltr_RsmB-F

0
100
200
300
400
469 a.a.

Protein Preferred Names

Protein Names

tRNA (cytosine(72)-C(5))-methyltransferase NSUN6

ARL5B antisense RNA 1

Related Diseases

Diseases

Alias

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

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-RS09605	NSUN6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NSUN6	VGNC	VGNC:43992
Bos taurus	NSUN6	VGNC	VGNC:32287
Mus musculus	NSUN6	MGD	MGI:1921705
Rattus norvegicus	NSUN6	RGD	RGD:1309535
Felis catus	NSUN6	VGNC	VGNC:63895
Macaca mulatta	NSUN6	VGNC	VGNC:75452

Name
Email *

	Sorry, but the email address you supplied was invalid.