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

    Gene ID: 63899, updated on 15-Jun-2019

    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
    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; MSTP077
    Expression
    Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 4.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See NSUN3 in Genome Data Viewer
    Location:
    3q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (94062905..94131832)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (93781855..93845630)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor like GTPase 13B Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 7 Neighboring gene syntaxin 19 Neighboring gene dihydrofolate reductase 2 Neighboring gene RBBP4 pseudogene 2 Neighboring gene VISTA enhancer hs1462 Neighboring gene armadillo repeat containing 10 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

    Phenotypes

    NHGRI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22109, FLJ22609

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tRNA (cytosine-5-)-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    rRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of mitochondrial translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tRNA wobble base cytosine methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial large ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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_024309467.1

    NCBI Reference Sequences (RefSeq)

    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
      Q9H649
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_024453699.1XP_024309467.1  tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl25484
      Location:13197
      Methyltr_RsmF_N; N-terminal domain of 16S rRNA methyltransferase RsmF
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