1. Gene
  2. NSUN6 - NOP2/Sun RNA methyltransferase 6 Gene

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

Methyltr_RsmB-F: 16S rRNA methyltransferase RsmB/F (215 - 420)

  • 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

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