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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MTRES1
mitochondrial transcription rescue factor 1
Chromosome 6 Β· 6q21
NCBI Gene: 51250Ensembl: ENSG00000130349.10HGNC: HGNC:17971UniProt: A0A0D9SEI0
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
tRNA bindingRNA bindingprotein bindingribosomal large subunit bindingkidney diseaseadverse effectalcohol drinkingaortic disease
✦AI Summary

MTRES1 (mitochondrial transcription rescue factor 1) is a mitochondrial RNA-binding protein with dual roles in transcriptional regulation and translational quality control. Functionally, MTRES1 acts as a protective factor maintaining mitochondrial RNA levels during cellular stress by associating with mitochondrial RNA polymerase POLRMT and enhancing transcription in an RNA-binding-dependent manner 1. Beyond transcription, MTRES1 participates in a mitoribosome-associated quality control pathway that responds to elongational stalling. As a heterodimeric partner with MTRF, MTRES1 ejects peptidyl tRNA from stalled mitochondrial ribosomes, rescuing them from aberrant translation 2. MTRES1 is also required for proper mitoribosome maturation and functioning, as its depletion causes global disruption of mt-mRNA association with mitoribosomes and reduces mitochondrial translation, leading to OXPHOS deficiency 3. These functions are particularly critical given that MTRES1 is upregulated under stress conditions, suggesting it serves as an adaptive response to maintain synthesis of the 13 essential mitochondrial-encoded oxidative phosphorylation subunits. The protein's multifaceted roles in both transcriptional rescue and translational quality control position it as a key regulator of mitochondrial bioenergetics and cellular stress resilience.

Sources cited
1
MTRES1 prevents stress-induced mitochondrial transcription deficiency by associating with POLRMT and increasing transcription in an RNA-binding-dependent manner
PMID: 31226201
2
MTRES1/C6orf203 is required for proper mitoribosome maturation and functioning; its knockout disrupts mt-mRNA association with mitoribosomes and causes OXPHOS deficiency
PMID: 31396629
3
MTRES1 ejects peptidyl tRNA from stalled ribosomes as part of a mitoribosome-associated quality control pathway; recruitment of biogenesis factors suggests roles in mitoribosome rescue
PMID: 33243891
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
kidney diseaseOpen Targets
0.17Weak
adverse effectOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.04Suggestive
aortic diseaseOpen Targets
0.04Suggestive
Ear painOpen Targets
0.03Suggestive
retinal degenerationOpen Targets
0.02Suggestive
hypothyroidismOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
placenta praeviaOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
osteosarcomaOpen Targets
0.00Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
meningococcal infectionOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KANSL1Shared pathway100%KANSL3Shared pathway100%MRPL9Protein interaction100%MRPL19Protein interaction100%MRPL27Protein interaction100%MRPL22Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
65%
Brain
52%
Bone Marrow
31%
Ovary
29%
Lung
22%
Gene Interaction Network
Click a node to explore
MTRES1KANSL1KANSL3MRPL9MRPL19MRPL27MRPL22
PROTEIN STRUCTURE
Preparing viewer…
PDB7A5H Β· 3.30 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.48–1.11]
RankingsWhere MTRES1 stands among ~20K protein-coding genes
  • #12,390of 20,598
    Most Researched28
  • #11,453of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedMTRES1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Elongational stalling activates mitoribosome-associated quality control.
PMID: 33243891
Science Β· 2020
1.00
2
C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis.
PMID: 31396629
Nucleic Acids Res Β· 2019
0.67
3
Quantitative proteomics revealed C6orf203/MTRES1 as a factor preventing stress-induced transcription deficiency in human mitochondria.
PMID: 31226201
Nucleic Acids Res Β· 2019
0.33