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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TRMT1
tRNA methyltransferase 1
Chromosome 19 Β· 19p13.13
NCBI Gene: 55621Ensembl: ENSG00000104907.14HGNC: HGNC:25980UniProt: Q9NXH9
73PubMed Papers
21Diseases
0Drugs
29Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingprotein bindingtRNA (guanine(26)-N2)-dimethyltransferase activitytRNA N2-guanine methylationintellectual developmental disorder, autosomal recessive 68genetic disorderIntellectual disabilityGlobal developmental delay
✦AI Summary

TRMT1 (tRNA methyltransferase 1) is a critical enzyme that dimethylates guanine residue 26 of most nuclear- and mitochondrial-encoded tRNAs using S-adenosyl-L-methionine as a methyl donor 1. This N2,N2-dimethylguanosine (m2,2G) modification is essential for tRNA stability and function, particularly for tyrosine and serine tRNAs 2. TRMT1-catalyzed tRNA modifications promote both cellular protein synthesis and redox homeostasis, supporting proper cellular proliferation and oxidative stress survival 3. The enzyme functions through its conserved zinc finger domain, which is critical for tRNA binding and modification activity 3. TRMT1 exhibits dynamic subcellular localization, relocating from mitochondria and cytoplasm to nuclear punctate compartments upon neuronal activation, suggesting roles in neuronal plasticity 4. Bi-allelic TRMT1 variants cause autosomal recessive intellectual developmental disorder 68, characterized by developmental delay, intellectual disability, behavioral abnormalities, epilepsy, and facial dysmorphism 5. Disease-associated variants impair tRNA modification capacity and reduce tyrosine and serine tRNA levels 5. Additionally, SARS-CoV-2 main protease cleaves TRMT1 at a conserved mammalian site, eliminating tRNA modification activity and potentially contributing to COVID-19 pathogenesis 3.

Sources cited
1
TRMT1 dimethylates guanine at position 26 of most tRNAs using S-adenosyl-L-methionine as methyl donor
PMID: 10982862
2
TRMT1 methylates all tRNAs containing guanosine at position 26; tyrosine and serine tRNAs depend on m2,2G modifications for stability and function
PMID: 39786990
3
TRMT1 zinc finger domain is critical for tRNA binding and methyltransferase activity; m2,2G modification promotes protein synthesis and redox homeostasis
PMID: 36865253
4
TRMT1 relocates from mitochondria/cytoplasm to nuclear punctate compartments upon neuronal activation
PMID: 33499731
5
Bi-allelic TRMT1 variants cause neurodevelopmental disorder with developmental delay, intellectual disability, epilepsy, and dysmorphism; variants reduce tRNA modifications and tyrosine/serine tRNA levels
PMID: 40245862
Disease Associationsβ“˜21
intellectual developmental disorder, autosomal recessive 68Open Targets
0.67Moderate
genetic disorderOpen Targets
0.47Moderate
Intellectual disabilityOpen Targets
0.38Weak
Global developmental delayOpen Targets
0.37Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
infectionOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.04Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
Abnormality of the cardiovascular systemOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
sideroblastic anemia 3Open Targets
0.04Suggestive
familial hypobetalipoproteinemia 1Open Targets
0.04Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.04Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
exfoliation syndromeOpen Targets
0.03Suggestive
Brugada syndromeOpen Targets
0.03Suggestive
Intellectual developmental disorder, autosomal recessive 68UniProt
Pathogenic Variants29
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs)Pathogenic
Intellectual developmental disorder, autosomal recessive 68|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 219
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)Pathogenic
Intellectual developmental disorder, autosomal recessive 68|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 445
NM_001136035.4(TRMT1):c.1168C>T (p.Arg390Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 390
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)Likely pathogenic
not provided|Intellectual developmental disorder, autosomal recessive 68
β˜…β˜…β˜†β˜†2021β†’ Residue 130
NM_001136035.4(TRMT1):c.382G>T (p.Glu128Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 128
NM_001136035.4(TRMT1):c.1435_1436del (p.Ser479fs)Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68
β˜…β˜†β˜†β˜†2025β†’ Residue 479
NM_001136035.4(TRMT1):c.641+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001136035.4(TRMT1):c.1584-834_1584-2delLikely pathogenic
Intellectual developmental disorder, autosomal recessive 68
β˜…β˜†β˜†β˜†2024
NM_001136035.4(TRMT1):c.713del (p.Pro238fs)Pathogenic
Intellectual developmental disorder, autosomal recessive 68
β˜…β˜†β˜†β˜†2024β†’ Residue 238
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys)Likely pathogenic
not provided|Intellectual developmental disorder, autosomal recessive 68|Squamous cell carcinoma of the head and neck
β˜…β˜†β˜†β˜†2024β†’ Residue 323
NM_001136035.4(TRMT1):c.1639G>T (p.Gly547Ter)Pathogenic
Intellectual developmental disorder, autosomal recessive 68
β˜…β˜†β˜†β˜†2024β†’ Residue 547
NM_001136035.4(TRMT1):c.1137del (p.Pro379_Val380insTer)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 379
NM_001136035.4(TRMT1):c.619C>T (p.Gln207Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 207
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68
β˜…β˜†β˜†β˜†2023β†’ Residue 387
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)Likely pathogenic
Intellectual developmental disorder, autosomal recessive 68
β˜…β˜†β˜†β˜†2022β†’ Residue 12
NM_001136035.4(TRMT1):c.1943dup (p.Gly649fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 649
NM_001136035.4(TRMT1):c.1042T>C (p.Cys348Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 348
NM_001136035.4(TRMT1):c.884dup (p.Leu296fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 296
NM_001136035.4(TRMT1):c.1110dup (p.Lys371fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 371
NM_001136035.4(TRMT1):c.312del (p.Lys105fs)Pathogenic
Intellectual developmental disorder, autosomal recessive 68
β˜…β˜†β˜†β˜†2019β†’ Residue 105
View on ClinVar β†—
Related Genes
RTF2Protein interaction84%METTL1Protein interaction79%TARBP1Protein interaction79%TRMT11Protein interaction79%TRMT10AProtein interaction76%WDR4Protein interaction76%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
91%
Liver
85%
Lung
70%
Heart
41%
Brain
24%
Gene Interaction Network
Click a node to explore
TRMT1RTF2METTL1TARBP1TRMT11TRMT10AWDR4
PROTEIN STRUCTURE
Preparing viewer…
PDB9DW6 Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.64–0.97]
RankingsWhere TRMT1 stands among ~20K protein-coding genes
  • #6,518of 20,598
    Most Researched73
  • #1,846of 5,498
    Most Pathogenic Variants29
  • #9,233of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedTRMT1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs.
PMID: 39786990
Cell Rep Β· 2025
1.00
2
Recognition and cleavage of human tRNA methyltransferase TRMT1 by the SARS-CoV-2 main protease.
PMID: 39773525
Elife Β· 2025
0.90
3
Recognition and Cleavage of Human tRNA Methyltransferase TRMT1 by the SARS-CoV-2 Main Protease.
PMID: 36865253
bioRxiv Β· 2024
0.80
4
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
PMID: 40245862
Am J Hum Genet Β· 2025
0.70
5
KDELC1 and TRMT1 Serve as Prognosis-Related SARS-CoV-2 Proteins Binding Human mRNAs and Promising Biomarkers in Clear Cell Renal Cell Carcinoma.
PMID: 34163216
Int J Gen Med Β· 2021
0.60