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NSUN6 NOP2/Sun RNA methyltransferase 6 [ Homo sapiens (human) ]

Gene ID: 221078, updated on 7-Jul-2024

Summary

Official Symbol
NSUN6provided by HGNC
Official Full Name
NOP2/Sun RNA methyltransferase 6provided by HGNC
Primary source
HGNC:HGNC:23529
See related
Ensembl:ENSG00000241058 MIM:617199; AllianceGenome:HGNC:23529
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRT82; NOPD1; ARL5B-AS1; 4933414E04Rik
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]
Expression
Ubiquitous expression in testis (RPKM 4.8), liver (RPKM 4.1) and 25 other tissues See more
Orthologs
NEW
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Try the new Transcript table

Genomic context

See NSUN6 in Genome Data Viewer
Location:
10p12.31
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (18545561..18659327, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (18531853..18678450, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (18834490..18948167, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit beta 2 Neighboring gene uncharacterized LOC107984213 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:18629448-18629653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3112 Neighboring gene uncharacterized LOC124902386 Neighboring gene uncharacterized LOC124902387 Neighboring gene NANOG hESC enhancer GRCh37_chr10:18841481-18841982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2184 Neighboring gene uncharacterized LOC105376440 Neighboring gene ADP ribosylation factor like GTPase 5B Neighboring gene AIFM1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Intellectual developmental disorder, autosomal recessive 82
MedGen: CN377626 OMIM: 620779 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ23743, DKFZp686G10106

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in RNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in tRNA C5-cytosine methylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tRNA methylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tRNA modification IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tRNA modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
tRNA (cytosine(72)-C(5))-methyltransferase NSUN6
Names
ARL5B antisense RNA 1
NOL1/NOP2/Sun and PUA domain-containing protein 1
NOL1/NOP2/Sun domain family, member 6
NOP2/Sun RNA methyltransferase family member 6
NOP2/Sun domain family, member 6
nucleolar protein (NOL1/NOP2/sun) and PUA domains 1
putative methyltransferase NSUN6

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001351115.2NP_001338044.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AA347409, BC035778, DB012566, HY169016
    Conserved Domains (2) summary
    smart00359
    Location:114201
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:214464
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  2. NM_001351116.2NP_001338045.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL600949, BC035778
    Conserved Domains (2) summary
    smart00359
    Location:103190
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:203453
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  3. NM_001351117.2NP_001338046.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 4

    Status: VALIDATED

    Source sequence(s)
    BC035778, DB012566, HY169016
    Conserved Domains (2) summary
    smart00359
    Location:63150
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:163413
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  4. NM_001351118.2NP_001338047.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 5

    Status: VALIDATED

    Source sequence(s)
    BC035778, BQ224447, HY169016
    Conserved Domains (1) summary
    COG0144
    Location:74324
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  5. NM_182543.5NP_872349.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 1

    See identical proteins and their annotated locations for NP_872349.1

    Status: VALIDATED

    Source sequence(s)
    BC035778, DB012566, HY169016
    Consensus CDS
    CCDS7130.1
    UniProtKB/Swiss-Prot
    B0YJ54, Q8TEA1
    Related
    ENSP00000366519.4, ENST00000377304.7
    Conserved Domains (2) summary
    smart00359
    Location:115202
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:215465
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    18545561..18659327 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447884.2XP_024303652.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

    Conserved Domains (2) summary
    smart00359
    Location:103190
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:203453
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  2. XM_011519385.2XP_011517687.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X3

    See identical proteins and their annotated locations for XP_011517687.1

    Conserved Domains (2) summary
    smart00359
    Location:103194
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:207457
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  3. XM_011519386.3XP_011517688.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X3

    See identical proteins and their annotated locations for XP_011517688.1

    Conserved Domains (2) summary
    smart00359
    Location:103194
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:207457
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  4. XM_047424778.1XP_047280734.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

  5. XM_011519384.2XP_011517686.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X3

    See identical proteins and their annotated locations for XP_011517686.1

    Conserved Domains (2) summary
    smart00359
    Location:103194
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:207457
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  6. XM_047424779.1XP_047280735.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X5

  7. XM_017015907.3XP_016871396.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X3

    Conserved Domains (2) summary
    smart00359
    Location:103194
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:207457
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  8. XM_011519387.3XP_011517689.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X9

    Conserved Domains (2) summary
    smart00359
    Location:63154
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:167417
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  9. XM_011519383.2XP_011517685.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X2

    Conserved Domains (2) summary
    smart00359
    Location:114205
    PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
    COG0144
    Location:218468
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  10. XM_047424777.1XP_047280733.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X1

  11. XM_047424781.1XP_047280737.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X10

  12. XM_047424783.1XP_047280739.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X11

  13. XM_017015912.3XP_016871401.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X11

    Conserved Domains (1) summary
    COG0144
    Location:78328
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  14. XM_047424782.1XP_047280738.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X7

  15. XM_047424780.1XP_047280736.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X6

  16. XM_047424784.1XP_047280740.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    18531853..18678450 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365122.1XP_054221097.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

  2. XM_054365119.1XP_054221094.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

  3. XM_054365116.1XP_054221091.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X13

  4. XM_054365115.1XP_054221090.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X13

  5. XM_054365111.1XP_054221086.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X2

  6. XM_054365113.1XP_054221088.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X12

    UniProtKB/Swiss-Prot
    B0YJ54, Q8TEA1
  7. XM_054365114.1XP_054221089.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X12

    UniProtKB/Swiss-Prot
    B0YJ54, Q8TEA1
  8. XM_054365112.1XP_054221087.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X12

    UniProtKB/Swiss-Prot
    B0YJ54, Q8TEA1
  9. XM_054365108.1XP_054221083.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X1

  10. XM_054365109.1XP_054221084.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X1

  11. XM_054365110.1XP_054221085.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X1

  12. XM_054365118.1XP_054221093.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

  13. XM_054365121.1XP_054221096.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

  14. XM_054365120.1XP_054221095.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

  15. XM_054365117.1XP_054221092.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X3

  16. XM_054365123.1XP_054221098.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X5

  17. XM_054365125.1XP_054221100.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X14

  18. XM_054365124.1XP_054221099.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X14

  19. XM_054365127.1XP_054221102.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X7

  20. XM_054365126.1XP_054221101.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X6

  21. XM_054365128.1XP_054221103.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X8