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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TACO1
translational activator of cytochrome c oxidase I
Chromosome 17 Β· 17q23.3
NCBI Gene: 51204Ensembl: ENSG00000136463.10HGNC: HGNC:24316UniProt: Q9BSH4
49PubMed Papers
21Diseases
0Drugs
16Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial ribosome bindingprotein bindingpositive regulation of mitochondrial translationmitochondrionleigh syndrome due to mitochondrial complex iv deficiencymitochondrial complex IV deficiency, nuclear type 8Isolated cytochrome C oxidase deficiencymitochondrial disease
✦AI Summary

TACO1 (translational activator of cytochrome c oxidase I) is a mitochondrial protein that functions as a translational regulator of oxidative phosphorylation (OXPHOS) components. Primary function: TACO1 acts as a translational activator specifically for mitochondrially-encoded cytochrome c oxidase subunits (COX1 and COX3) 1. Mechanism: TACO1 alleviates mitoribosome stalling at polyproline-rich stretches within COX1 and COX3 mRNAs by cooperating with ribosomal subunit bL27m to stabilize the peptidyl-transferase center 1. The protein functions as a general post-initiation mitochondrial translation factor 2, and its stability is maintained through interaction with the chaperone PET117, which prevents TACO1 ubiquitination 3. Disease relevance: TACO1 mutations cause Leigh syndrome with complex IV deficiency 1, with viral infections exacerbating this phenotype 4. Proteomic analysis revealed TACO1 downregulation in myotonic dystrophy type 2 muscle 5. Clinical significance: TACO1 is upregulated in bladder and gastric cancers, where elevated mitochondrial TACO1 drives chemoresistance and stemness through OXPHOS enhancement and reactive oxygen species production, and associates with poor prognosis 67. Physical activity increases TACO1 expression, suggesting a mechanism for exercise-mediated mitochondrial health 8.

Sources cited
1
TACO1 alleviates mitoribosome stalling at polyproline stretches in COX1 and COX3 mRNAs and cooperates with ribosomal bL27m
PMID: 39036954
2
TACO1 orthologue functions as a general mitochondrial translation factor active in post-initiation translation
PMID: 36620885
3
PET117 chaperone stabilizes TACO1 and prevents its ubiquitination to regulate COX1 synthesis
PMID: 37247699
4
TACO1 mutations cause juvenile Leigh syndrome with cytochrome c oxidase deficiency
PMID: 39036954
5
Viral infection exacerbates complex IV deficiency in Taco1 mutant mice
PMID: 32130224
6
TACO1 is downregulated in myotonic dystrophy type 2 skeletal muscle
PMID: 38240888
7
TACO1 mitochondrial translocation promotes cisplatin resistance and stemness in bladder cancer through MTCO1/OXPHOS axis
PMID: 39656941
8
TACO1 is upregulated in gastric cancer and promotes proliferation and migration through Notch1/Hes1 signaling
PMID: 40288625
9
Physical activity increases TACO1 protein expression in muscle tissue
PMID: 27061106
Disease Associationsβ“˜21
leigh syndrome due to mitochondrial complex iv deficiencyOpen Targets
0.69Moderate
mitochondrial complex IV deficiency, nuclear type 8Open Targets
0.67Moderate
Isolated cytochrome C oxidase deficiencyOpen Targets
0.62Moderate
mitochondrial diseaseOpen Targets
0.60Moderate
Leigh syndromeOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
in situ carcinomaOpen Targets
0.06Suggestive
iridocorneal endothelial syndromeOpen Targets
0.04Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.04Suggestive
Axenfeld anomalyOpen Targets
0.04Suggestive
Rieger anomalyOpen Targets
0.04Suggestive
neuroectodermal melanolysosomal diseaseOpen Targets
0.03Suggestive
neurodegeneration with ataxia and late-onset optic atrophyOpen Targets
0.03Suggestive
Persistent pupillary membraneOpen Targets
0.03Suggestive
exfoliation syndromeOpen Targets
0.03Suggestive
posterior polymorphous corneal dystrophy 1Open Targets
0.03Suggestive
Friedreich ataxiaOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.02Suggestive
melanomaOpen Targets
0.02Suggestive
Mitochondrial complex IV deficiency, nuclear type 8UniProt
Pathogenic Variants16
NM_016360.4(TACO1):c.97del (p.Arg33fs)Likely pathogenic
not provided|Mitochondrial complex IV deficiency, nuclear type 8
β˜…β˜…β˜†β˜†2026β†’ Residue 33
NM_016360.4(TACO1):c.421C>T (p.Arg141Ter)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 8|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 141
NM_016360.4(TACO1):c.280+1G>CPathogenic
Mitochondrial complex IV deficiency, nuclear type 8|not provided
β˜…β˜…β˜†β˜†2024
NM_016360.4(TACO1):c.226G>T (p.Glu76Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 76
NM_016360.4(TACO1):c.387+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_016360.4(TACO1):c.428del (p.Pro143fs)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 8
β˜…β˜†β˜†β˜†2024β†’ Residue 143
NM_016360.4(TACO1):c.280G>T (p.Glu94Ter)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 8
β˜…β˜†β˜†β˜†2024β†’ Residue 94
NM_016360.4(TACO1):c.75_76delinsC (p.Arg25fs)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 8
β˜…β˜†β˜†β˜†2024β†’ Residue 25
NM_016360.4(TACO1):c.775G>T (p.Glu259Ter)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 8
β˜…β˜†β˜†β˜†2024β†’ Residue 259
NM_016360.4(TACO1):c.516-1G>ALikely pathogenic
Mitochondrial complex IV deficiency, nuclear type 8
β˜…β˜†β˜†β˜†2024
NM_016360.4(TACO1):c.252_253del (p.Cys85fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 85
NM_016360.4(TACO1):c.472dup (p.His158fs)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1|Mitochondrial complex IV deficiency, nuclear type 8
β˜…β˜†β˜†β˜†2018β†’ Residue 158
NM_016360.4(TACO1):c.97dup (p.Arg33fs)Pathogenic
Mitochondrial complex IV deficiency, nuclear type 1
β˜…β˜†β˜†β˜†2018β†’ Residue 33
NM_016360.4(TACO1):c.583del (p.Asp195fs)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1
β˜…β˜†β˜†β˜†2016β†’ Residue 195
NM_016360.4(TACO1):c.620T>C (p.Leu207Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2013β†’ Residue 207
NM_016360.4(TACO1):c.255_258del (p.Leu84_Cys85insTer)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 8
β˜…β˜†β˜†β˜†β†’ Residue 84
View on ClinVar β†—
Related Genes
RMND1Shared pathway100%COX6B1Protein interaction93%BCS1LProtein interaction90%COX10Protein interaction90%COX15Protein interaction90%SCO1Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Heart
52%
Brain
26%
Lung
17%
Ovary
16%
Bone Marrow
16%
Gene Interaction Network
Click a node to explore
TACO1RMND1COX6B1BCS1LCOX10COX15SCO1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BSH4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.54 [0.36–0.85]
RankingsWhere TACO1 stands among ~20K protein-coding genes
  • #9,024of 20,598
    Most Researched49
  • #2,414of 5,498
    Most Pathogenic Variants16
  • #7,345of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedTACO1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Enhanced Oxidative Phosphorylation Driven by TACO1 Mitochondrial Translocation Promotes Stemness and Cisplatin Resistance in Bladder Cancer.
PMID: 39656941
Adv Sci (Weinh) Β· 2025
1.00
2
The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches.
PMID: 39036954
Nucleic Acids Res Β· 2024
0.90
3
DPC29 promotes post-initiation mitochondrial translation in Saccharomyces cerevisiae.
PMID: 36620885
Nucleic Acids Res Β· 2023
0.80
4
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2.
PMID: 38240888
Acta Neuropathol Β· 2024
0.70
5
PET117 assembly factor stabilizes translation activator TACO1 thereby upregulates mitochondria-encoded cytochrome C oxidase 1 synthesis.
PMID: 37247699
Free Radic Biol Med Β· 2023
0.60