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

    Gene ID: 221078, updated on 10-Dec-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 (cytidine-5-)-methyltransferase activity and tRNA binding activity. Involved in tRNA C5-cytosine methylation. Located in cytoplasm. Implicated in autosomal recessive intellectual developmental disorder 82. [provided by Alliance of Genome Resources, Dec 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (18545561..18659327, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (18531853..18678450, complement)
    RS_2024_09 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 ARF like GTPase 5B Neighboring gene AIFM1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (15 hits/1264 screens)

    Associated conditions

    Description Tests
    Intellectual developmental disorder, autosomal recessive 82
    MedGen: C5935601 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

    General gene information

    Clone Names

    • FLJ23743, DKFZp686G10106

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in RNA methylation  
    involved_in tRNA C5-cytosine methylation PubMed 
    involved_in tRNA methylation PubMed 
    involved_in tRNA modification PubMed 
    involved_in tRNA modification  
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in cytosol  

    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_001351115.2 → NP_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:114 → 201
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:214 → 464
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    2. NM_001351116.2 → NP_001338045.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL600949, BC035778
      Conserved Domains (2) summary
      smart00359
      Location:103 → 190
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:203 → 453
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    3. NM_001351117.2 → NP_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:63 → 150
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:163 → 413
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    4. NM_001351118.2 → NP_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:74 → 324
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    5. NM_182543.5 → NP_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:115 → 202
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:215 → 465
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_024447884.2 → XP_024303652.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

      Conserved Domains (2) summary
      smart00359
      Location:103 → 190
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:203 → 453
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    2. XM_011519385.2 → XP_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:103 → 194
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:207 → 457
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    3. XM_011519386.3 → XP_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:103 → 194
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:207 → 457
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    4. XM_047424778.1 → XP_047280734.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

    5. XM_011519384.2 → XP_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:103 → 194
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:207 → 457
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    6. XM_047424779.1 → XP_047280735.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X5

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

      Conserved Domains (2) summary
      smart00359
      Location:103 → 194
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:207 → 457
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    8. XM_011519387.3 → XP_011517689.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X9

      Conserved Domains (2) summary
      smart00359
      Location:63 → 154
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:167 → 417
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    9. XM_011519383.2 → XP_011517685.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X2

      Conserved Domains (2) summary
      smart00359
      Location:114 → 205
      PUA; Putative RNA-binding Domain in PseudoUridine synthase and Archaeosine transglycosylase
      COG0144
      Location:218 → 468
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    10. XM_047424777.1 → XP_047280733.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X1

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

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

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

      Conserved Domains (1) summary
      COG0144
      Location:78 → 328
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    14. XM_047424782.1 → XP_047280738.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X7

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

    16. XM_047424784.1 → XP_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_054365122.1 → XP_054221097.1  tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X4

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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