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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TUFM
Tu translation elongation factor, mitochondrial
Chromosome 16 · 16p11.2
NCBI Gene: 7284Ensembl: ENSG00000178952.12HGNC: HGNC:12420UniProt: A0A384ME17
316PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial large ribosomal subunit assemblymitochondrionextracellular exosomemitochondrial nucleoidcombined oxidative phosphorylation defect type 4neurodegenerative diseaseCOVID-19combined oxidative phosphorylation deficiency
✦AI Summary

TUFM (Tu translation elongation factor, mitochondrial) is a GTPase that functions as a mitochondrial translation elongation factor, promoting GTP-dependent aminoacyl-tRNA binding during protein synthesis 1. Beyond its canonical role in mitochondrial translation, TUFM plays critical roles in mitophagy and innate immunity regulation. TUFM recruits autophagy machinery (ATG5-ATG12) and innate immune regulators (NLRX1) at mitochondria, serving as a checkpoint for RIG-I-mediated antiviral signaling 2. TUFM functions as a critical hub in pathogenic mechanisms: viral proteins (influenza PB1-F2 and SFTSV nucleoprotein) exploit TUFM-mediated mitophagy to suppress MAVS-dependent type I interferon production and evade antiviral immunity 34. Post-translational modifications regulate TUFM function—lactylation at K286 following traumatic brain injury inhibits TUFM-Tomm40 interaction, suppressing mitophagy and increasing neuronal apoptosis 5, while deacetylation in NASH promotes ClpXP-mediated degradation, impairing mitophagy and activating NLRP3 inflammasome 6. Mutations in TUFM associate with combined oxidative phosphorylation deficiency 4, and genome-wide studies identify TUFM as a causal immune-genetic regulator of aging traits 7. These findings establish TUFM as a multifunctional protein integrating metabolic, immune, and mitophagic pathways.

Sources cited
1
TUFM is recognized as a key factor in mitophagy and appears in viral mitophagy manipulation mechanisms
PMID: 29895192
2
Mitochondria actively regulate innate immune responses through components and signaling cascades
PMID: 30165038
3
TUFM interacts with viral PB1-F2 protein at mitochondria and mediates PB1-F2-induced mitophagy that suppresses MAVS and type I interferon production
PMID: 32013669
4
TUFM lactylation at K286 following traumatic brain injury inhibits TUFM-Tomm40 interaction, suppresses mitophagy, and increases neuronal apoptosis; lactylation-deficient TufmK286R rescues mitophagy and improves functional outcomes
PMID: 39496783
5
MRG15 deacetylates TUFM at K82 and K91, promoting ClpXP-mediated TUFM degradation, which impairs mitophagy and activates NLRP3 inflammasome in NASH progression
PMID: 35985547
6
TUFM is identified as an immune-cell-specific causal gene with significant associations to aging-related traits including telomere length and frailty
PMID: 40659289
7
SFTSV nucleoprotein interacts with TUFM at mitochondria to induce mitophagy-mediated MAVS degradation and evade antiviral immunity
PMID: 39189526
Disease Associationsⓘ21
combined oxidative phosphorylation defect type 4Open Targets
0.78Strong
neurodegenerative diseaseOpen Targets
0.50Moderate
COVID-19Open Targets
0.47Moderate
combined oxidative phosphorylation deficiencyOpen Targets
0.41Moderate
ulcerative colitisOpen Targets
0.28Weak
mitochondrial diseaseOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
intelligenceOpen Targets
0.18Weak
atrial fibrillationOpen Targets
0.16Weak
metabolic syndromeOpen Targets
0.13Weak
health study participationOpen Targets
0.11Weak
inflammatory bowel diseaseOpen Targets
0.11Weak
obesityOpen Targets
0.11Weak
morbid obesityOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Crohn's diseaseOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
adenomaOpen Targets
0.07Suggestive
gastrointestinal stromal tumorOpen Targets
0.07Suggestive
pulmonary arterial hypertensionOpen Targets
0.07Suggestive
Combined oxidative phosphorylation deficiency 4UniProt
Pathogenic Variants6
NM_003321.5(TUFM):c.722dup (p.Leu242fs)Pathogenic
not provided
★☆☆☆2024→ Residue 242
NM_003321.5(TUFM):c.989G>C (p.Arg330Pro)Likely pathogenic
Combined oxidative phosphorylation defect type 4
★☆☆☆2017→ Residue 330
NM_003321.5(TUFM):c.320G>C (p.Arg107Pro)Likely pathogenic
not provided
★☆☆☆2015→ Residue 107
NM_003321.5(TUFM):c.1196A>G (p.Glu399Gly)Likely pathogenic
not provided
★☆☆☆2013→ Residue 399
NM_003321.5(TUFM):c.440T>A (p.Leu147His)Pathogenic
Combined oxidative phosphorylation defect type 4
☆☆☆☆2016→ Residue 147
NM_003321.5(TUFM):c.162del (p.Thr53_Tyr54insTer)Pathogenic
Combined oxidative phosphorylation defect type 4
☆☆☆☆2016→ Residue 53
View on ClinVar ↗
Related Genes
HMGN1Protein interaction100%HMGN2Protein interaction100%PHB1Protein interaction100%RPL5Protein interaction100%RPL11Protein interaction100%RPL23AProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
87%
Brain
57%
Lung
51%
Bone Marrow
45%
Ovary
42%
Gene Interaction Network
Click a node to explore
TUFMHMGN1HMGN2PHB1RPL5RPL11RPL23A
PROTEIN STRUCTURE
Preparing viewer…
PDB7O9K · 3.10 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.36–0.70]
RankingsWhere TUFM stands among ~20K protein-coding genes
  • #1,073of 20,598
    Most Researched316 · top 10%
  • #3,297of 5,498
    Most Pathogenic Variants6
  • #5,354of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedTUFM
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Mitochondria in innate immune signaling.
PMID: 30165038
Transl Res · 2018
1.00
2
Tufm lactylation regulates neuronal apoptosis by modulating mitophagy in traumatic brain injury.
PMID: 39496783
Cell Death Differ · 2025
0.90
3
Viral strategies for triggering and manipulating mitophagy.
PMID: 29895192
Autophagy · 2018
0.80
4
Influenza A virus protein PB1-F2 impairs innate immunity by inducing mitophagy.
PMID: 32013669
Autophagy · 2021
0.70
5
MRG15 aggravates non-alcoholic steatohepatitis progression by regulating the mitochondrial proteolytic degradation of TUFM.
PMID: 35985547
J Hepatol · 2022
0.60