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TRMT12 tRNA methyltransferase 12 homolog [ Homo sapiens (human) ]

Gene ID: 55039, updated on 27-Nov-2024

Summary

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Official Symbol
TRMT12provided by HGNC
Official Full Name
tRNA methyltransferase 12 homologprovided by HGNC
Primary source
HGNC:HGNC:26091
See related
Ensembl:ENSG00000183665 MIM:611244; AllianceGenome:HGNC:26091
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
TYW2; TRM12
Summary
Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]
Orthologs
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Genomic context

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See TRMT12 in Genome Data Viewer
Location:
8q24.13
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (124450820..124453026)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (125583484..125585689)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (125463061..125465267)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene transcription factor SOX-2-like Neighboring gene transmembrane protein 65 Neighboring gene MPRA-validated peak7161 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19511 Neighboring gene Sharpr-MPRA regulatory region 2045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27881 Neighboring gene MPRA-validated peak7162 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125440961-125441462 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:125443461-125444276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:125452571-125453070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:125483735-125484236 Neighboring gene RNF139 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27882 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125486486-125487030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125487031-125487576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125487577-125488120 Neighboring gene ring finger protein 139 Neighboring gene TatD DNase domain containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Epigenetic loss of the transfer RNA-modifying enzyme TYW2 induces ribosome frameshifts in colon cancer. Rosselló-Tortella M, et al. Proc Natl Acad Sci U S A, 2020 Aug 25. PMID 32778592, Free PMC Article
  2. Chromosome 8 BAC array comparative genomic hybridization and expression analysis identify amplification and overexpression of TRMT12 in breast cancer. Rodriguez V, et al. Genes Chromosomes Cancer, 2007 Jul. PMID 17440925
  3. Structure-function analysis of human TYW2 enzyme required for the biosynthesis of a highly modified Wybutosine (yW) base in phenylalanine-tRNA. Rodriguez V, et al. PLoS One, 2012. PMID 22761755, Free PMC Article
  4. A novel methyltransferase required for the formation of the hypermodified nucleoside wybutosine in eucaryotic tRNA. Kalhor HR, et al. Biochem Biophys Res Commun, 2005 Aug 26. PMID 16005430
  5. Ribonucleome analysis identified enzyme genes responsible for wybutosine synthesis. Noma A, et al. Nucleic Acids Symp Ser (Oxf), 2006. PMID 17150819

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Epigenetic loss of the transfer RNA-modifying enzyme TYW2 induces ribosome frameshifts in colon cancer.
    Title: Epigenetic loss of the transfer RNA-modifying enzyme TYW2 induces ribosome frameshifts in colon cancer.
  2. analysis by RT-qPCR using RNA from 30 breast tumors showed TRMT12 was overexpressed >2 fold in 87% of the tumors. TRMT12 is a homologue of a yeast gene encoding a tRNA methyltransferase involved in the posttranscriptional modification of tRNA(Phe)
    Title: Chromosome 8 BAC array comparative genomic hybridization and expression analysis identify amplification and overexpression of TRMT12 in breast cancer.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20772

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables tRNA 4-demethylwyosine alpha-amino-alpha-carboxypropyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables tRNA methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in wybutosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
tRNA wybutosine-synthesizing protein 2 homolog
Names
alpha-amino-alpha-carboxypropyl transferase TYW2
homolog of yeast tRNA methyltransferase
tRNA methyltranferase 12 homolog
tRNA(Phe) (4-demethylwyosine(37)-C(7)) aminocarboxypropyltransferase
tRNA-yW-synthesizing protein 2
NP_060426.2

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_017956.4 → NP_060426.2  tRNA wybutosine-synthesizing protein 2 homolog

    See identical proteins and their annotated locations for NP_060426.2

    Status: VALIDATED

    Source sequence(s)
    AA608716, AK222727, BP342608
    Consensus CDS
    CCDS6349.1
    UniProtKB/Swiss-Prot
    Q53H54, Q6PKB9, Q96F21, Q9NWK6
    Related
    ENSP00000329858.3, ENST00000328599.4
    Conserved Domains (2) summary
    COG2520
    Location:31 → 441
    Trm5; tRNA G37 N-methylase Trm5 [Translation, ribosomal structure and biogenesis]
    pfam12847
    Location:234 → 336
    Methyltransf_18; Methyltransferase domain

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    124450820..124453026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    125583484..125585689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53H54.1 GenPept UniProtKB/Swiss-Prot:Q53H54

Gene LinkOut

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