TRIT1 Gene

Name	tRNA isopentenyltransferase 1
Description	This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTRIT1 encodes a highly conserved tRNA isopentenyltransferase that catalyzes the transfer of an isopentenyl group to adenosine‐37 (i6A37) within the anticodon loop of a select group of both cytosolic and mitochondrial tRNAs. This post‐transcriptional modification is crucial for ensuring translation fidelity and efficiency by stabilizing the codon–anticodon interaction, and its substrate specificity is primarily determined by recognition of the A36‐A37‐A38 sequence. Structural and biochemical studies—including comparisons with yeast homologs such as Mod5—have elucidated details of TRIT1’s interactions with tRNA backbones and hinted at additional cellular roles beyond tRNA modification."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n \nDisruptions in TRIT1 activity, as seen with pathogenic variants such as the homozygous p.Arg323Gln mutation, result in a marked deficiency in i6A37 modification on both cytosolic and mitochondrial tRNAs. This loss of modification impairs mitochondrial protein synthesis, compromises oxidative phosphorylation, and leads to a range of clinical presentations including microcephaly, developmental delay, epilepsy, and other features of mitochondrial insufficiency. Experimental studies using patient‐derived fibroblasts and conditional knockout models have underscored the essential role of TRIT1 in maintaining proper mitochondrial function and overall cellular energy metabolism."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "8"}]}, {"type": "t", "text": "\n \nBeyond its central role in tRNA modification and mitochondrial protein translation, TRIT1 has emerged as a candidate tumor suppressor. Genetic studies have identified associations between variation in the TRIT1 region and cancer phenotypes—for instance, polymorphisms correlating with altered survival in lung adenocarcinoma and differences in risk or clinicopathological features in gastric cancer. Although the mechanistic links between TRIT1-mediated i6A37 modification and oncogenesis remain to be fully clarified, these observations suggest that subtle alterations in TRIT1 function may impact cellular homeostasis and tumor biology in a context-dependent manner."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "John W Yarham, Tek N Lamichhane, Angela Pyle, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1004424"}], "href": "https://doi.org/10.1371/journal.pgen.1004424"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24901367"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24901367"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tek N Lamichhane, Sandy Mattijssen, Richard J Maraia "}, {"type": "b", "children": [{"type": "t", "text": "Human cells have a limited set of tRNA anticodon loop substrates of the tRNA isopentenyltransferase TRIT1 tumor suppressor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.01041-13"}], "href": "https://doi.org/10.1128/MCB.01041-13"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24126054"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24126054"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "P J Smaldino, D F Read, M Pratt-Hyatt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The cytoplasmic and nuclear populations of the eukaryote tRNA-isopentenyl transferase have distinct functions with implications in human cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2014.09.049"}], "href": "https://doi.org/10.1016/j.gene.2014.09.049"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25261850"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25261850"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Abdul Khalique, Sandy Mattijssen, Alexander F Haddad, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Targeting mitochondrial and cytosolic substrates of TRIT1 isopentenyltransferase: Specificity determinants and tRNA-i6A37 profiles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1008330"}], "href": "https://doi.org/10.1371/journal.pgen.1008330"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32324744"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32324744"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kristin D Kernohan, David A Dyment, Mihaela Pupavac, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23196"}], "href": "https://doi.org/10.1002/humu.23196"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28185376"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28185376"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Noelia Fradejas-Villar, Simon Bohleber, Wenchao Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Effect of tRNA"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "[Ser]Sec"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": " Isopentenylation on Selenoprotein Expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms222111454"}], "href": "https://doi.org/10.3390/ijms222111454"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34768885"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34768885"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ewout Muylle, Huafang Jiang, Christin Johnsen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Inherit Metab Dis (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jimd.12550"}], "href": "https://doi.org/10.1002/jimd.12550"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36047296"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36047296"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Thomas Smol, Perrine Brunelle, Roseline Caumes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TRIT1 deficiency: Two novel patients with four novel variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2022.104603"}], "href": "https://doi.org/10.1016/j.ejmg.2022.104603"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36049610"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36049610"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Parveen Bhatti, Michele M Doody, Preetha Rajaraman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Radiat Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1667/RR1985.1"}], "href": "https://doi.org/10.1667/RR1985.1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20095854"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20095854"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Monica Spinola, F Stefania Falvella, Antonella Galvan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Lung Cancer (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.lungcan.2006.10.023"}], "href": "https://doi.org/10.1016/j.lungcan.2006.10.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17145094"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17145094"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Shuqin Chen, Zhihua Zheng, Jianqing Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of polymorphisms and haplotype in the region of TRIT1, MYCL1 and MFSD2A with the risk and clinicopathological features of gastric cancer in a southeast Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Carcinogenesis (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/carcin/bgt010"}], "href": "https://doi.org/10.1093/carcin/bgt010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23349019"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23349019"}]}]}]}
Synonyms	hGRO1, IPPT, IPTase, COXPD35, IPT, MOD5
Proteins	MOD5_HUMAN
NCBI Gene ID	54802
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

TRIT1 has 5,291 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 117 datasets.

Click the + buttons to view associations for TRIT1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

TRIT1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of TRIT1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of TRIT1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of TRIT1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of TRIT1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of TRIT1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of TRIT1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of TRIT1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of TRIT1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of TRIT1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of TRIT1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of TRIT1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of TRIT1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with TRIT1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with TRIT1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of TRIT1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of TRIT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of TRIT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with TRIT1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of TRIT1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing TRIT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing TRIT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing TRIT1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing TRIT1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with TRIT1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with TRIT1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of TRIT1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with TRIT1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with TRIT1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with TRIT1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of TRIT1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by TRIT1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with TRIT1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with TRIT1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with TRIT1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with TRIT1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at TRIT1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of TRIT1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of TRIT1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing TRIT1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with TRIT1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.