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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TRMT1L
tRNA methyltransferase 1L
Chromosome 1 · 1q25.3
NCBI Gene: 81627Ensembl: ENSG00000121486.13HGNC: HGNC:16782UniProt: B4DXX1
114PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingtRNA (guanine(27)-N2)-dimethyltransferase activitytRNA N2-guanine methylationAganglionic megacolonhemochromatosis type 5FTH1-related iron overloadAdult-onset autosomal recessive sideroblastic anemia
✦AI Summary

TRMT1L is a tRNA methyltransferase that catalyzes N2,N2-dimethylguanosine (m2,2G) modification specifically at position 27 of tyrosine tRNA (tRNA-Tyr) using S-adenosyl-L-methionine as a methyl donor 12. This dimethylation is essential for efficient translation of tyrosine codons and maintains tRNA stability 12. Beyond its primary methyltransferase function, TRMT1L is also necessary for maintaining 3-(3-amino-3-carboxypropyl)uridine (acp3U) modifications in select cytoplasmic tRNAs through a process that can be uncoupled from catalytic activity 12. TRMT1L depletion results in marked decreases in tRNA-Tyr-GUA levels, reduced global translation rates, and increased sensitivity to oxidative stress 2. The enzyme dynamically relocates from nucleoli to nuclear punctate compartments upon neuronal activation, suggesting roles in neuronal plasticity 3. TRMT1L mutations have been associated with various disease contexts. Patient cells with TRMT1 family gene variants show dysregulated tRNA levels 1, and TRMT1L variants appear linked to idiopathic sudden sensorineural hearing loss through inflammation and oxidative-stress pathways 4. Additionally, TRMT1L has been identified as part of cancer-associated gene signatures in breast cancer and prostate cancer prognosis 56.

Sources cited
1
TRMT1L catalyzes m2,2G at position 27 in tyrosine tRNAs and maintains acp3U modifications; mutations affect tRNA stability and function
PMID: 39786990
2
TRMT1L catalyzes m2,2G at position 27 of tRNA-Tyr; depletion impairs acp3U deposition and reduces translation rates and stress tolerance
PMID: 39786998
3
TRMT1L relocates from nucleoli to nuclear punctate compartments upon neuronal activation
PMID: 33499731
4
TRMT1L variants are associated with idiopathic sudden sensorineural hearing loss through immune-inflammatory and cellular stress pathways
PMID: 41751972
5
TRMT1L is part of a tumor susceptibility gene signature associated with ERBB2-driven breast cancer development
PMID: 39067134
6
TRMT1L is one of 13 RNA-binding proteins in a signature predicting prostate cancer biochemical recurrence
PMID: 34419719
Disease Associationsⓘ20
Aganglionic megacolonOpen Targets
0.12Weak
FTH1-related iron overloadOpen Targets
0.06Suggestive
hemochromatosis type 5Open Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
isolated hyperferritinemiaOpen Targets
0.05Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.05Suggestive
ThrombocytopeniaOpen Targets
0.04Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
amegakaryocytic thrombocytopenia, congenital, 2Open Targets
0.04Suggestive
cryohydrocytosisOpen Targets
0.04Suggestive
Hereditary cryohydrocytosis with normal stomatinOpen Targets
0.04Suggestive
thrombocytopenia 7Open Targets
0.04Suggestive
thrombocytopenia 4Open Targets
0.04Suggestive
congenital amegakaryocytic thrombocytopenia 1Open Targets
0.04Suggestive
IRIDA syndromeOpen Targets
0.03Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.03Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.03Suggestive
nervous system benign neoplasmOpen Targets
0.03Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DUS4LShared pathway100%MTO1Shared pathway100%TRMUShared pathway100%DUS1LShared pathway100%TRMT13Shared pathway50%DUS2Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
71%
Liver
63%
Ovary
48%
Lung
40%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
TRMT1LDUS4LMTO1TRMUDUS1LTRMT13DUS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z2T5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.57Moderately Constrained
pLIⓘ
0.31Tolerant
Observed/Expected LoF0.41 [0.30–0.57]
RankingsWhere TRMT1L stands among ~20K protein-coding genes
  • #4,172of 20,598
    Most Researched114 · top quartile
  • #3,716of 17,882
    Most Constrained (LOEUF)0.57 · top quartile
Genes detectedTRMT1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs.
PMID: 39786990
Cell Rep · 2025
1.00
2
A susceptibility gene signature for ERBB2-driven mammary tumour development and metastasis in collaborative cross mice.
PMID: 39067134
EBioMedicine · 2024
0.90
3
TRMT1L-catalyzed m
PMID: 39786998
Cell Rep · 2025
0.80
4
Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation.
PMID: 33499731
RNA Biol · 2021
0.70
5
TRMT1L-catalyzed m
PMID: 39416027
bioRxiv · 2024
0.60