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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TRMT5
tRNA methyltransferase 5
Chromosome 14 Β· 14q23.1
NCBI Gene: 57570Ensembl: ENSG00000126814.8HGNC: HGNC:23141UniProt: Q32P41
32PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial matrixmitochondrial tRNA methylationmitochondriontRNA methyltransferase activityCombined oxidative phosphorylation defect type 26neurodegenerative diseasemitochondrial diseasegenetic disorder
✦AI Summary

TRMT5 (tRNA methyltransferase 5) is a nuclear-encoded protein that catalyzes N1-methylguanosine (m1G) methylation at position 37 of guanosine in mitochondrial and nuclear tRNAs 1. This methylation represents the first step in wybutosine biosynthesis, a modified base required for accurate tRNA anticodon loop decoding. TRMT5 functions primarily in the mitochondrial matrix, where it is essential for dynamic upregulation of mitochondrial messenger RNA translation and oxidative phosphorylation 1. Dysfunction of TRMT5 leads to multiple disease phenotypes. Pathogenic TRMT5 mutations cause a complex inherited neuropathy syndrome characterized by infantile-onset demyelinating peripheral neuropathy, developmental delay, intellectual disability, and cerebellar abnormalities 2. Additionally, TRMT5 mutations are associated with isolated porto-sinusoidal vascular disorder (PSVD), suggesting immune cell involvement in disease pathogenesis 3. In obesity-related renal injury, circulating B cell-derived miR-3960 targets TRMT5, impairing mitochondrial tRNA methylation and causing electron transport chain dysfunction in renal tubular cells 4. Clinically, TRMT5 emerges as a therapeutic target in cancer. Elevated TRMT5 expression correlates with poor prognosis in hepatocellular carcinoma and promotes drug tolerance in acute myeloid leukemia through mitochondrial metabolic upregulation 51. TRMT5 depletion combined with chemotherapy synergistically induces cell death in drug-resistant leukemia cells, identifying TRMT5 as a promising therapeutic target.

Sources cited
1
TRMT5 catalyzes m1G methylation at position 37 of tRNAs; essential for mitochondrial mRNA translation and oxidative phosphorylation; mediates drug tolerance in AML
PMID: 40749163
2
TRMT5 mutations cause infantile-onset demyelinating neuropathy with developmental delay, intellectual disability, and cerebellar abnormalities
PMID: 35342985
3
TRMT5 mutations are associated with isolated porto-sinusoidal vascular disorder
PMID: 38900412
4
miR-3960 targets TRMT5 in obesity-related renal injury, causing mitochondrial tRNA methylation deficiency and electron transport chain dysfunction
PMID: 38958071
5
TRMT5 expression is upregulated in hepatocellular carcinoma and correlates with poor prognosis; targeting TRMT5 inhibits HCC progression and increases chemotherapy sensitivity
PMID: 36632750
Disease Associationsβ“˜21
Combined oxidative phosphorylation defect type 26Open Targets
0.77Strong
neurodegenerative diseaseOpen Targets
0.50Moderate
mitochondrial diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Intellectual disabilityOpen Targets
0.12Weak
liver diseaseOpen Targets
0.10Weak
diabetes mellitusOpen Targets
0.08Suggestive
prostate carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.06Suggestive
primary angle closure glaucomaOpen Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
skull disorderOpen Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.04Suggestive
polymyalgia rheumaticaOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.04Suggestive
strokeOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
benign prostatic hyperplasiaOpen Targets
0.02Suggestive
response to vaccineOpen Targets
0.02Suggestive
glaucomaOpen Targets
0.02Suggestive
Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delayUniProt
Pathogenic Variants3
NM_020810.3(TRMT5):c.259A>T (p.Arg87Ter)Likely pathogenic
Combined oxidative phosphorylation defect type 26
β˜…β˜†β˜†β˜†2023β†’ Residue 87
NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)Likely pathogenic
Combined oxidative phosphorylation defect type 26
β˜…β˜†β˜†β˜†2022β†’ Residue 89
NM_020810.3(TRMT5):c.1156A>G (p.Met386Val)Pathogenic
Combined oxidative phosphorylation defect type 26
β˜†β˜†β˜†β˜†2022β†’ Residue 386
View on ClinVar β†—
Related Genes
THUMPD3Shared pathway100%TRMOShared pathway100%TRMT44Shared pathway100%TRMT61AProtein interaction100%TYW1Protein interaction88%TRMT10AProtein interaction85%
Tissue Expression6 tissues
Brain
100%
Ovary
92%
Heart
85%
Liver
75%
Bone Marrow
55%
Lung
48%
Gene Interaction Network
Click a node to explore
TRMT5THUMPD3TRMOTRMT44TRMT61ATYW1TRMT10A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q32P41
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.55–0.97]
RankingsWhere TRMT5 stands among ~20K protein-coding genes
  • #11,641of 20,598
    Most Researched32
  • #4,110of 5,498
    Most Pathogenic Variants3
  • #9,194of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedTRMT5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Disrupting tRNA modifications to target mitochondrial vulnerabilities in drug-resistant leukemia cells.
PMID: 40749163
Blood Β· 2025
1.00
2
PAX translocations remodel mitochondrial metabolism through altered leucine usage in rhabdomyosarcoma.
PMID: 40185100
Cell Β· 2025
0.90
3
Lactate-related gene signatures predict prognosis and immune profiles in esophageal squamous cell carcinoma.
PMID: 40617965
Sci Rep Β· 2025
0.80
4
Genetic predisposition to porto-sinusoidal vascular disorder.
PMID: 38900412
Hepatology Β· 2026
0.70
5
Integrative single-cell and bulk RNA sequencing of lactate metabolism identifies PDP-1 as a prognostic biomarker in breast cancer.
PMID: 41005389
Int J Biol Macromol Β· 2025
0.60