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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MTRF1
mitochondrial translation release factor 1
Chromosome 13 · 13q14.11
NCBI Gene: 9617Ensembl: ENSG00000120662.17HGNC: HGNC:7469UniProt: O75570
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial translational terminationtranslation release factor activity, codon specificmitochondriontranslation release factor activityglomerulonephritisProptosishypertriglyceridemia 2Fish-eye disease
✦AI Summary

MTRF1 (mitochondrial translation release factor 1) is a specialized mitochondrial peptide chain release factor that terminates translation at non-canonical stop codons in human mitochondria 1. Unlike the major release factor mtRF1a, which recognizes standard UAA and UAG stop codons, MTRF1 specifically directs termination at the arginine codons AGG and AGA located at the end of MT-CO1/COX1 and MT-ND6/ND6 open reading frames, respectively 123. MTRF1 recognizes these non-canonical stop codons through a previously unknown mechanism that repositions the first two bases of the codon, utilizing an intricate network of interactions involving the release factor protein, ribosomal RNA from the small subunit, and neighboring mRNA bases—distinct from the direct codon-recognition strategy employed by other release factors 3. Loss of MTRF1 causes ribosomal stalling specifically at AGA and AGG codons, leading to isolated cytochrome c oxidase (COX) deficiency and activation of mitochondrial ribosome-associated quality control, which degrades COX1 mRNA to prevent ribosome overload 12. MTRF1 dysfunction impairs respiratory chain assembly and energy production, making it clinically relevant for mitochondrial diseases affecting oxidative phosphorylation 4.

Sources cited
1
MTRF1 is a specialized release factor recognizing non-canonical AGA/AGG stop codons at COX1 and ND6 termini; loss of MTRF1 causes COX deficiency and activates mitochondrial quality control
PMID: 36302763
2
MTRF1 detects non-canonical stop codons through repositioning of codon bases using interactions with release factor, rRNA, and mRNA; mechanism involving ribosomal RNA participation
PMID: 37141370
3
MTRF1 demonstrates specific peptide release activity at AGA and AGG codons; loss causes mitoribosomes to accumulate at these codons with altered COX1 transcript and protein levels
PMID: 36596788
4
MTRF1 is a key mitochondrial termination factor essential for accurate translation in oxidative phosphorylation
PMID: 38779770
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
glomerulonephritisOpen Targets
0.30Weak
ProptosisOpen Targets
0.19Weak
hypertriglyceridemia 2Open Targets
0.06Suggestive
fish eye diseaseOpen Targets
0.05Suggestive
Fish-eye diseaseOpen Targets
0.05Suggestive
cardiovascular diseaseOpen Targets
0.05Suggestive
hypoalphalipoproteinemia, primary, 1Open Targets
0.04Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.04Suggestive
familial hypercholesterolemiaOpen Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
goutOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
PainOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.02Suggestive
pneumonic plagueOpen Targets
0.01Suggestive
Yersinia pestis infectious diseaseOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
hemophagocytic syndromeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MTRFRShared pathway100%MRPL20Protein interaction100%MRPS7Protein interaction100%MRPL9Protein interaction100%MRPS9Protein interaction100%MRPL21Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
85%
Heart
70%
Ovary
53%
Lung
48%
Brain
30%
Gene Interaction Network
Click a node to explore
MTRF1MTRFRMRPL20MRPS7MRPL9MRPS9MRPL21
PROTEIN STRUCTURE
Preparing viewer…
PDB8OIT · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.61–1.02]
RankingsWhere MTRF1 stands among ~20K protein-coding genes
  • #12,391of 20,598
    Most Researched28
  • #9,953of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedMTRF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control.
PMID: 36302763
Nat Commun · 2022
1.00
2
Molecular basis of translation termination at noncanonical stop codons in human mitochondria.
PMID: 37141370
Science · 2023
0.90
3
Human mitochondria require mtRF1 for translation termination at non-canonical stop codons.
PMID: 36596788
Nat Commun · 2023
0.80
4
Structure based hypothesis of a mitochondrial ribosome rescue mechanism.
PMID: 22569235
Biol Direct · 2012
0.70
5
Translation termination in human mitochondria - substrate specificity of mitochondrial release factors.
PMID: 37377370
Biol Chem · 2023
0.60