TUFM Gene

Name	Tu translation elongation factor, mitochondrial
Description	This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTUFM is a nuclear‐encoded mitochondrial translation elongation factor that plays a central role in mitochondrial protein synthesis by delivering aminoacyl-tRNAs to the ribosomal A site. Disruption of TUFM function through pathogenic variants has been linked to severe mitochondrial translation defects manifesting as fatal encephalopathy, lactic acidosis, leukodystrophy, and translation fidelity problems that affect the assembly and function of respiratory chain complexes. Structural studies further support its essential role in ensuring correct tRNA accommodation during polypeptide elongation. These findings underscore the importance of TUFM in maintaining mitochondrial homeostasis and energy production."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its canonical role in mitochondrial translation, TUFM has emerged as an important modulator of innate immunity and autophagy. By interacting with mitochondrial proteins such as NLRX1 and autophagic components (for example, the Atg5–Atg12–Atg16L1 complex), TUFM contributes to the attenuation of RIG-I-like receptor–mediated type I interferon responses while simultaneously promoting autophagic flux. This dual activity extends to antiviral defense where TUFM acts as a host restriction factor, particularly impeding the replication of avian-signature influenza A viruses in human cells—a process that appears to be linked to its ability to modulate autophagy."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nDysregulation of TUFM has also been implicated in oncogenesis and neurodegenerative disorders. In certain cancers, such as colorectal carcinoma, altered TUFM expression has prognostic significance, and its downregulation in lung cancer has been associated with mitochondrial dysfunction, increased reactive oxygen species, and epithelial-to-mesenchymal transition, thereby promoting metastasis. Moreover, reduced TUFM levels in Alzheimer’s disease models have been linked to dysregulation of key proteins involved in amyloid-beta processing and tau phosphorylation, while a recently identified homozygous TUFM mutation has been associated with premature ovarian insufficiency. Collectively, these diverse roles highlight TUFM as a multifunctional protein at the crossroads of mitochondrial translation, autophagy-mediated cell stress responses, and cellular homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Lucia Valente, Valeria Tiranti, Rene Massimiliano Marsano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/510559"}], "href": "https://doi.org/10.1086/510559"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17160893"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17160893"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Florin Sasarman, Hana Antonicka, Eric A Shoubridge "}, {"type": "b", "children": [{"type": "t", "text": "The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddn265"}], "href": "https://doi.org/10.1093/hmg/ddn265"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18753147"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18753147"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Lucia Valente, Narumi Shigi, Tsutomu Suzuki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2009.06.002"}], "href": "https://doi.org/10.1016/j.bbadis.2009.06.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19524667"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19524667"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Michela Di Nottia, Arianna Montanari, Daniela Verrigni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta Mol Basis Dis (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2017.01.022"}], "href": "https://doi.org/10.1016/j.bbadis.2017.01.022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28132884"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28132884"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Dylan Girodat, Scott C Blanchard, Hans-Joachim Wieden, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Elongation Factor Tu Switch I Element is a Gate for Aminoacyl-tRNA Selection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2020.01.038"}], "href": "https://doi.org/10.1016/j.jmb.2020.01.038"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32061931"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32061931"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yu Lei, Haitao Wen, Yanbao Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The mitochondrial proteins NLRX1 and TUFM form a complex that regulates type I interferon and autophagy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Immunity (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.immuni.2012.03.025"}], "href": "https://doi.org/10.1016/j.immuni.2012.03.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22749352"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22749352"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yu Lei, Haitao Wen, Jenny P Y Ting "}, {"type": "b", "children": [{"type": "t", "text": "The NLR protein, NLRX1, and its partner, TUFM, reduce type I interferon, and enhance autophagy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Autophagy (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/auto.23026"}], "href": "https://doi.org/10.4161/auto.23026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23321557"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23321557"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Y Lei, B A Kansy, J Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EGFR-targeted mAb therapy modulates autophagy in head and neck squamous cell carcinoma through NLRX1-TUFM protein complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2016.11"}], "href": "https://doi.org/10.1038/onc.2016.11"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26876213"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26876213"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Shu-Ming Kuo, Chi-Jene Chen, Shih-Cheng Chang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inhibition of Avian Influenza A Virus Replication in Human Cells by Host Restriction Factor TUFM Is Correlated with Autophagy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "mBio (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/mBio.00481-17"}], "href": "https://doi.org/10.1128/mBio.00481-17"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28611246"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28611246"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Hongjun Shi, Mark Hayes, Chandra Kirana, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TUFM is a potential new prognostic indicator for colorectal carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pathology (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/PAT.0b013e3283559cbe"}], "href": "https://doi.org/10.1097/PAT.0b013e3283559cbe"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22772342"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22772342"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Kai He, Xiaojie Guo, Yi Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TUFM downregulation induces epithelial-mesenchymal transition and invasion in lung cancer cells via a mechanism involving AMPK-GSK3β signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Life Sci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00018-015-2122-9"}], "href": "https://doi.org/10.1007/s00018-015-2122-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26781467"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26781467"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Hong-Qing Xi, Ke-Cheng Zhang, Ji-Yang Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression and clinicopathologic significance of TUFM and p53 for the normal-adenoma-carcinoma sequence in colorectal epithelia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "World J Surg Oncol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12957-017-1111-x"}], "href": "https://doi.org/10.1186/s12957-017-1111-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28449687"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28449687"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Bi-Rou Zhong, Gui-Feng Zhou, Li Song, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TUFM is involved in Alzheimer's disease-like pathologies that are associated with ROS."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.202002461R"}], "href": "https://doi.org/10.1096/fj.202002461R"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33774866"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33774866"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Jun Zhang, Xing-Yu Zhou, Ao Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.14403"}], "href": "https://doi.org/10.1111/cge.14403"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37461298"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37461298"}]}]}]}
Synonyms	EFTU, P43, EF-TUMT, COXPD4
Proteins	EFTU_HUMAN
NCBI Gene ID	7284
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

TUFM has 10,717 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 128 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

TUFM 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 TUFM 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 TUFM 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 TUFM 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 TUFM 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 TUFM 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 TUFM 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 TUFM 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 TUFM 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 TUFM 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 TUFM gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of TUFM 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 TUFM gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with TUFM protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of TUFM gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of TUFM 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 TUFM 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 TUFM gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of TUFM gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of TUFM gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing TUFM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing TUFM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing TUFM 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 TUFM 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 TUFM 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 TUFM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing TUFM protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of TUFM gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with TUFM gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with TUFM gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with TUFM gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by TUFM gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with TUFM 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 TUFM 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 TUFM 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 TUFM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with TUFM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for TUFM protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at TUFM 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 TUFM gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of TUFM gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.