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Aliases for TRMU Gene

Aliases for TRMU Gene

  • TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase 2 3 5
  • MTO2 Homolog 3 4
  • TRMT1 3 4
  • MTU1 3 4
  • Mitochondrial 5-Methylaminomethyl-2-Thiouridylate-Methyltransferase 3
  • TRNA (5-Methylaminomethyl-2-Thiouridylate)-Methyltransferase 2
  • Lung Cancer Associated LncRNA 3 3
  • EC 2.8.1.14 4
  • EC 2.8.1 63
  • LCAL3 3
  • TRNT1 3
  • MTO2 3
  • TRMT 3

External Ids for TRMU Gene

Previous HGNC Symbols for TRMU Gene

  • TRMT

Previous GeneCards Identifiers for TRMU Gene

  • GC22P045053
  • GC22P045109
  • GC22P046726
  • GC22P029675

Summaries for TRMU Gene

Entrez Gene Summary for TRMU Gene

  • This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for TRMU Gene

TRMU (TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase) is a Protein Coding gene. Diseases associated with TRMU include liver failure, transient infantile and deafness, mitochondrial, modifier of. Among its related pathways are Gene Expression and tRNA processing. GO annotations related to this gene include methyltransferase activity and tRNA binding.

UniProtKB/Swiss-Prot for TRMU Gene

  • Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base.

Gene Wiki entry for TRMU Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRMU Gene

Genomics for TRMU Gene

Regulatory Elements for TRMU Gene

Genomic Location for TRMU Gene

Chromosome:
22
Start:
46,330,875 bp from pter
End:
46,357,340 bp from pter
Size:
26,466 bases
Orientation:
Plus strand

Genomic View for TRMU Gene

Genes around TRMU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRMU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRMU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRMU Gene

Proteins for TRMU Gene

  • Protein details for TRMU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75648-MTU1_HUMAN
    Recommended name:
    Mitochondrial tRNA-specific 2-thiouridylase 1
    Protein Accession:
    O75648
    Secondary Accessions:
    • A8K3U7
    • Q05C99
    • Q5W9C8
    • Q66K31
    • Q6ICC3
    • Q9NWC1

    Protein attributes for TRMU Gene

    Size:
    421 amino acids
    Molecular mass:
    47745 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • During the reaction, ATP is used to activate the C2 atom of U34 by adenylation. After this, the persulfide sulfur on the catalytic cysteine is transferred to the C2 atom of the wobble base (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards the activated C2 atom on U34. Subsequently, a transient disulfide bond is formed between the two active site cysteine residues (By similarity).

    Alternative splice isoforms for TRMU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRMU Gene

Proteomics data for TRMU Gene at MOPED

Post-translational modifications for TRMU Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for TRMU Gene

Graphical View of Domain Structure for InterPro Entry

O75648

UniProtKB/Swiss-Prot:

MTU1_HUMAN :
  • Belongs to the MnmA/TRMU family.
Family:
  • Belongs to the MnmA/TRMU family.
genes like me logo Genes that share domains with TRMU: view

No data available for Gene Families for TRMU Gene

Function for TRMU Gene

Molecular function for TRMU Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A [protein]-S-sulfanyl-L-cysteine + 5-taurinomethyluridine(34) in tRNA + ATP + reduced acceptor = a [protein]-L-cysteine + 5-taurinomethyl-2-thiouridine(34) in tRNA + AMP + diphosphate + acceptor.
UniProtKB/Swiss-Prot Function:
Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base.

Enzyme Numbers (IUBMB) for TRMU Gene

Gene Ontology (GO) - Molecular Function for TRMU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with TRMU: view
genes like me logo Genes that share phenotypes with TRMU: view

Human Phenotype Ontology for TRMU Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TRMU

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TRMU Gene

Localization for TRMU Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRMU Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRMU Gene COMPARTMENTS Subcellular localization image for TRMU gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for TRMU Gene

Pathways & Interactions for TRMU Gene

genes like me logo Genes that share pathways with TRMU: view

Gene Ontology (GO) - Biological Process for TRMU Gene

None

No data available for SIGNOR curated interactions for TRMU Gene

Drugs & Compounds for TRMU Gene

(2) Drugs for TRMU Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with TRMU: view

Transcripts for TRMU Gene

Alternative Splicing Database (ASD) splice patterns (SP) for TRMU Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a ·
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - -
SP7: - - - - - -
SP8: - - - - - - -
SP9: -
SP10: - - - - -
SP11: - - -
SP12: - -
SP13:
SP14:
SP15: -
SP16:
SP17: - -

ExUns: 11b ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e · 13f
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16: -
SP17:

Relevant External Links for TRMU Gene

GeneLoc Exon Structure for
TRMU
ECgene alternative splicing isoforms for
TRMU

Expression for TRMU Gene

mRNA expression in normal human tissues for TRMU Gene

Protein differential expression in normal tissues from HIPED for TRMU Gene

This gene is overexpressed in Lung (26.8) and Plasma (23.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TRMU Gene



mRNA Expression by UniProt/SwissProt for TRMU Gene

O75648-MTU1_HUMAN
Tissue specificity: Ubiquitous. Abundantly expressed in tissues with high metabolic rates including heart, liver, kidney, and brain.
genes like me logo Genes that share expression patterns with TRMU: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for TRMU Gene

Orthologs for TRMU Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TRMU Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TRMU 35
  • 86.22 (n)
  • 90.62 (a)
TRMU 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRMU 35
  • 88.3 (n)
  • 92.25 (a)
TRMU 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trmu 35
  • 86.27 (n)
  • 90.6 (a)
Trmu 16
Trmu 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRMU 35
  • 96.68 (n)
  • 95.93 (a)
TRMU 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trmu 35
  • 86.1 (n)
  • 90.6 (a)
oppossum
(Monodelphis domestica)
Mammalia TRMU 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRMU 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRMU 35
  • 75.19 (n)
  • 80.45 (a)
TRMU 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRMU 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12914 35
trmu 35
  • 73.23 (n)
  • 75.37 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20115 35
zebrafish
(Danio rerio)
Actinopterygii trmu 35
  • 66.58 (n)
  • 68.26 (a)
trmu 36
  • 66 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3422 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011960 35
  • 55.23 (n)
  • 49.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3021 35
  • 52.43 (n)
  • 44.59 (a)
CG3021 36
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0035.16 35
  • 50.65 (n)
  • 43.61 (a)
B0035.16 36
  • 41 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL087C 35
  • 44.69 (n)
  • 35.21 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F24706g 35
  • 45.41 (n)
  • 33.71 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLM3 35
  • 45.38 (n)
  • 35.01 (a)
SLM3 36
  • 29 (a)
OneToOne
SLM3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G51310 35
  • 46.65 (n)
  • 37.96 (a)
rice
(Oryza sativa)
Liliopsida Os03g0174600 35
  • 46.55 (n)
  • 40.79 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC23H4.04 35
  • 47.31 (n)
  • 37.96 (a)
Species with no ortholog for TRMU:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRMU Gene

ENSEMBL:
Gene Tree for TRMU (if available)
TreeFam:
Gene Tree for TRMU (if available)

Paralogs for TRMU Gene

No data available for Paralogs for TRMU Gene

Variants for TRMU Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TRMU Gene

O75648-MTU1_HUMAN
The polymorphism Ser-10 aggravates the mitochondrial dysfunction associated with a mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation that has been associated with aminoglycoside-induced and non-syndromic deafness [MIM:580000].

Sequence variations from dbSNP and Humsavar for TRMU Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs11090865 - 46,335,792(+) TGTGC(G/T)CCCTG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs2272938 - 46,335,839(-) CTCCG(A/C/T)CTCAG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, missense, utr-variant-5-prime
rs34012206 - 46,346,508(+) AGCCC(A/G)AAGGG nc-transcript-variant, reference, synonymous-codon, missense
rs34152016 - 46,356,932(+) GCCAG(C/T)GCAGA nc-transcript-variant, reference, synonymous-codon, missense
VAR_063428 -

Structural Variations from Database of Genomic Variants (DGV) for TRMU Gene

Variant ID Type Subtype PubMed ID
nsv829281 CNV Gain 20364138
dgv5013n71 CNV Loss 21882294
nsv829293 CNV Gain 20364138
dgv5014n71 CNV Loss 21882294
nsv471214 CNV Loss 18288195
nsv834225 CNV Loss 17160897
dgv5015n71 CNV Loss 21882294
nsv524100 CNV Loss 19592680

Variation tolerance for TRMU Gene

Residual Variation Intolerance Score: 58.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.10; 80.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRMU Gene

HapMap Linkage Disequilibrium report
TRMU
Human Gene Mutation Database (HGMD)
TRMU

Disorders for TRMU Gene

MalaCards: The human disease database

(12) MalaCards diseases for TRMU Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
liver failure, transient infantile
  • acute infantile liver failure
deafness, mitochondrial, modifier of
  • deafness, streptomycin-induced
mitochondrial myopathy with reversible cytochrome c oxidase deficiency
  • benign cox deficiency
acute infantile liver failure due to synthesis defect of mtdna-encoded proteins
  • acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins
mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
  • mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
- elite association - COSMIC cancer census association via MalaCards
Search TRMU in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTU1_HUMAN
  • Liver failure, infantile, transient (LFIT) [MIM:613070]: A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence. {ECO:0000269 PubMed:19732863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRMU

Genetic Association Database (GAD)
TRMU
Human Genome Epidemiology (HuGE) Navigator
TRMU
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRMU
genes like me logo Genes that share disorders with TRMU: view

No data available for Genatlas for TRMU Gene

Publications for TRMU Gene

  1. Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase. (PMID: 14746906) Yan Q. … Guan M.X. (Biochim. Biophys. Acta 2004) 2 3 23 67
  2. Acute infantile liver failure due to mutations in the TRMU gene. (PMID: 19732863) Zeharia A. … Elpeleg O. (Am. J. Hum. Genet. 2009) 3 23
  3. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2- methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. (PMID: 16513084) Yan Q. … Guan M.-X. (Biochem. Biophys. Res. Commun. 2006) 3 23
  4. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. (PMID: 16826519) Guan M.-X. … Fischel-Ghodsian N. (Am. J. Hum. Genet. 2006) 3 23
  5. Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases. (PMID: 15509579) Umeda N. … Suzuki T. (J. Biol. Chem. 2005) 3 23

Products for TRMU Gene

Sources for TRMU Gene

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