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    NSUN3 NOP2/Sun RNA methyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 63899, updated on 17-Jun-2024

    Summary

    Official Symbol
    NSUN3provided by HGNC
    Official Full Name
    NOP2/Sun RNA methyltransferase 3provided by HGNC
    Primary source
    HGNC:HGNC:26208
    See related
    Ensembl:ENSG00000178694 MIM:617491; AllianceGenome:HGNC:26208
    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
    MST077; COXPD48; MSTP077
    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]
    Expression
    Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 4.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NSUN3 in Genome Data Viewer
    Location:
    3q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (94063061..94131832)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (96761512..96830315)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (93781905..93850676)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 7 Neighboring gene ADP ribosylation factor like GTPase 13B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20124 Neighboring gene syntaxin 19 Neighboring gene dihydrofolate reductase 2 Neighboring gene RBBP4 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20125 Neighboring gene VISTA enhancer hs1462 Neighboring gene armadillo repeat containing 10 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:94362039-94362654 Neighboring gene uncharacterized LOC105373992

    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
    Combined oxidative phosphorylation deficiency 48
    MedGen: C5436602 OMIM: 619012 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22109, FLJ22609

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tRNA (cytidine-5-)-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in rRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of mitochondrial translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tRNA wobble base cytosine methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of mitochondrial large ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial
    Names
    NOL1/NOP2/Sun domain family member 3
    NOP2/Sun RNA methyltransferase family member 3
    putative methyltransferase NSUN3
    NP_071355.1
    XP_047304640.1
    XP_054203464.1

    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_022072.5NP_071355.1  tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial

      See identical proteins and their annotated locations for NP_071355.1

      Status: VALIDATED

      Source sequence(s)
      AC019233, BC020602, BQ030336
      Consensus CDS
      CCDS2927.1
      UniProtKB/Swiss-Prot
      Q6PG41, Q8IXG9, Q9H649, Q9H6M2
      Related
      ENSP00000318986.4, ENST00000314622.9
      Conserved Domains (1) summary
      cl17173
      Location:124332
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      94063061..94131832
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448684.1XP_047304640.1  tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      96761512..96830315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347489.1XP_054203464.1  tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial isoform X1