GTPBP3 Gene

Name	GTP binding protein 3 (mitochondrial)
Description	This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GTPBP3 is an evolutionarily conserved mitochondrial GTPase that plays a critical role in the post‐transcriptional modification of mitochondrial transfer RNAs. In particular, it cooperates with MTO1 to catalyze the formation of 5‑taurinomethyluridine (τm<sup>5</sup>U) at the wobble position of several mt‐tRNAs, a modification essential for accurate mitochondrial translation and efficient decoding of specific codons."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Disruption of GTPBP3 function—through mutations in patients or gene silencing in model systems—leads to hypomodification of mt‐tRNAs, impairing mitochondrial protein synthesis and subsequently compromising oxidative phosphorylation. These defects manifest biochemically as reduced oxygen consumption and ATP production, along with altered respiratory complex activities and increased oxidative stress."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Furthermore, altered GTPBP3 activity has been implicated in disease phenotypes including hypertrophic cardiomyopathy, lactic acidosis, and neurological dysfunction, while its function as a genetic modifier may influence the penetrance of mitochondrial mutations associated with hearing loss."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Studies in zebrafish models have further reinforced the essential role of GTPBP3 in mitochondrial tRNA metabolism and cardiac development, recapitulating many features observed in patients with pathogenic GTPBP3 variants."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Collectively, these findings establish GTPBP3 as a central enzyme linking mitochondrial tRNA modification to proper mitochondrial translation and energy production, with its dysfunction contributing to the pathogenesis of diverse mitochondrial disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Robert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2014.10.017"}], "href": "https://doi.org/10.1016/j.ajhg.2014.10.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25434004"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25434004"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xiaoming Li, Min-Xin Guan "}, {"type": "b", "children": [{"type": "t", "text": "A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.22.21.7701-7711.2002"}], "href": "https://doi.org/10.1128/MCB.22.21.7701-7711.2002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12370316"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12370316"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Gui-Xin Peng, Yong Zhang, Qin-Qin Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkab104"}], "href": "https://doi.org/10.1093/nar/gkab104"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33619562"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33619562"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Magda Villarroya, Silvia Prado, Juan M Esteve, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of human GTPBP3, a GTP-binding protein involved in mitochondrial tRNA modification."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.00946-08"}], "href": "https://doi.org/10.1128/MCB.00946-08"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18852288"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18852288"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ana Martínez-Zamora, Salvador Meseguer, Juan M Esteve, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0144273"}], "href": "https://doi.org/10.1371/journal.pone.0144273"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26642043"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26642043"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yelena Bykhovskaya, Emebet Mengesha, Dai Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2004.07.009"}], "href": "https://doi.org/10.1016/j.ymgme.2004.07.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15542390"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15542390"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ling-Feng Luo, Cong-Cong Hou, Wan-Xi Yang "}, {"type": "b", "children": [{"type": "t", "text": "Nuclear factors: roles related to mitochondrial deafness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2013.03.041"}], "href": "https://doi.org/10.1016/j.gene.2013.03.041"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23510774"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23510774"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Danni Chen, Zengming Zhang, Chao Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deletion of Gtpbp3 in zebrafish revealed the hypertrophic cardiomyopathy manifested by aberrant mitochondrial tRNA metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkz218"}], "href": "https://doi.org/10.1093/nar/gkz218"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30916346"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30916346"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Danni Chen, Feng Li, Qingxian Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The defective expression of gtpbp3 related to tRNA modification alters the mitochondrial function and development of zebrafish."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biochem Cell Biol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biocel.2016.05.012"}], "href": "https://doi.org/10.1016/j.biocel.2016.05.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27184967"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27184967"}]}]}]}
Synonyms	MTGP1, COXPD23, THDF1, GTPBG3
Proteins	GTPB3_HUMAN
NCBI Gene ID	84705
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GTPBP3 has 5,125 functional associations with biological entities spanning 8 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) extracted from 114 datasets.

Click the + buttons to view associations for GTPBP3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GTPBP3 Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by GTPBP3 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GTPBP3 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 GTPBP3 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 GTPBP3 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 GTPBP3 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 GTPBP3 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 GTPBP3 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 GTPBP3 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 GTPBP3 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 GTPBP3 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 GTPBP3 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of GTPBP3 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 GTPBP3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with GTPBP3 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with GTPBP3 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 GTPBP3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GTPBP3 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 GTPBP3 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 GTPBP3 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing GTPBP3 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of GTPBP3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GTPBP3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing GTPBP3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing GTPBP3 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 GTPBP3 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 GTPBP3 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 GTPBP3 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 GTPBP3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with GTPBP3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with GTPBP3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with GTPBP3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by GTPBP3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving GTPBP3 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with GTPBP3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with GTPBP3 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 GTPBP3 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 GTPBP3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with GTPBP3 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 GTPBP3 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 GTPBP3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.