Details for: NSUN3

Gene ID: 63899

Symbol: NSUN3

Ensembl ID: ENSG00000178694

Description: NOP2/Sun RNA methyltransferase 3

Associated with

Other Information

Genular Protein ID: 3690666926

Symbol: NSUN3_HUMAN

Name: tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial

UniProtKB Accession Codes:

Q9H649 Q6PG41 Q8IXG9 Q9H6M2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 ChEBI 9 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 Rhea 4 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 27497299

Title: NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand codon recognition in mitochondrial translation.

PubMed ID: 27497299

DOI: 10.15252/embj.201694885

PubMed ID: 27214402

Title: NSUN3 methylase initiates 5-formylcytidine biogenesis in human mitochondrial tRNA(Met).

PubMed ID: 27214402

DOI: 10.1038/nchembio.2099

PubMed ID: 27356879

Title: Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3.

PubMed ID: 27356879

DOI: 10.1038/ncomms12039

PubMed ID: 32488845

Title: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures.

PubMed ID: 32488845

DOI: 10.1007/s12031-020-01595-8

Sequence Information:

  • Length: 340
  • Mass: 38244
  • Checksum: 7E09AF2E477EB6F3
  • Sequence:
    • MLTQLKAKSE GKLAKQICKV VLDHFEKQYS KELGDAWNTV REILTSPSCW QYAVLLNRFN 
YPFELEKDLH LKGYHTLSQG SLPNYPKSVK CYLSRTPGRI PSERHQIGNL KKYYLLNAAS 
LLPVLALELR DGEKVLDLCA APGGKSIALL QCACPGYLHC NEYDSLRLRW LRQTLESFIP 
QPLINVIKVS ELDGRKMGDA QPEMFDKVLV DAPCSNDRSW LFSSDSQKAS CRISQRRNLP 
LLQIELLRSA IKALRPGGIL VYSTCTLSKA ENQDVISEIL NSHGNIMPMD IKGIARTCSH 
DFTFAPTGQE CGLLVIPDKG KAWGPMYVAK LKKSWSTGKW

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.