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

Gene ID: 63899, updated on 22-Aug-2021

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; COXPD48; MSTP077
Expression
Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 4.7) and 25 other tissues See more
Orthologs
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Genomic context

See NSUN3 in Genome Data Viewer
Location:
3q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (94063061..94131832)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (93781905..93850676)

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

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 48
MedGen: C5436602 OMIM: 619012 GeneReviews: Not available
not available
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
GeneReviews: Not available

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
enables methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables tRNA (cytosine-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 RNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in rRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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_024309467.1

NCBI Reference Sequences (RefSeq)

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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 Updated Annotation Release 109.20210514

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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