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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MTRF1L
mitochondrial translation release factor 1 like
Chromosome 6 · 6q25.2
NCBI Gene: 54516Ensembl: ENSG00000112031.17HGNC: HGNC:21051UniProt: B4DMX1
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial translational terminationtranslation release factor activity, codon specifictranslation release factor activitymitochondrionneurodegenerative diseaseBenign Ovarian Neoplasmlysosomal storage diseasetype 2 diabetes mellitus
✦AI Summary

MTRF1L (mitochondrial translation release factor 1 like) is a mitochondrial peptide chain release factor that directs translation termination in response to stop codons UAA and UAG in the mitochondrial matrix. The protein functions as part of the mitochondrial translational termination phase, working alongside other mitochondrial translation factors (mtIF2, mtIF3, mtEFTu, mtEFTs, mtEFG1) to coordinate protein synthesis from mtDNA-encoded genes 1. MTRF1L contains a conserved GGQ motif that undergoes glutamine methylation by the enzyme HEMK1, a modification also conserved in bacterial release factors, though this specific methylation appears dispensable for basic cell growth and mitochondrial protein homeostasis under standard culture conditions 2. Functionally, MTRF1L expression correlates with exercise-induced mitochondrial biogenesis in skeletal muscle and is downregulated during muscle denervation-induced atrophy, indicating its role in mitochondrial biogenesis and integrity 1, 3. Clinically, MTRF1L has emerged as a potential biomarker in disease contexts: it shows causal association with colorectal cancer (CRC) risk and improved prognosis when highly expressed, with associations to multiple immune cell types 4. Additionally, MTRF1L is identified as a diagnostic hub gene in sarcopenia, connecting mitochondrial dysfunction and immune disorders 5. The protein also exhibits novel protein-protein interactions, including partnerships with LYRM1 6.

Sources cited
1
MTRF1L is a mitochondrial release factor involved in mitochondrial translation termination phase; exercise training upregulates MTRF1L expression coinciding with mitochondrial biogenesis
PMID: 30369085
2
MTRF1L contains a GGQ motif that undergoes glutamine methylation by HEMK1; this modification is conserved but appears mostly dispensable for cell growth and mitochondrial protein homeostasis
PMID: 35260756
3
MTRF1L (mtRF1L) expression is downregulated during muscle denervation, correlating with decreased mitochondrial biogenesis and mtDNA-encoded protein expression
PMID: 32446358
4
MTRF1L shows causal association with colorectal cancer risk; high MTRF1L expression correlates with better prognosis and association with multiple immune cell types
PMID: 40620061
5
MTRF1L is identified as a hub gene biomarker for sarcopenia diagnosis and therapy, connecting mitochondrial function and immune response
PMID: 41305746
6
MTRF1L forms a novel protein-protein interaction with LYRM1 predicted through coevolution analysis and deep learning structure modeling
PMID: 35881696
7
MTRF1L is the most abundant protein identified in mitochondrial proteomics analysis of mycotoxin-exposed cells
PMID: 32407736
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
Benign Ovarian NeoplasmOpen Targets
0.25Weak
lysosomal storage diseaseOpen Targets
0.24Weak
type 2 diabetes mellitusOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
mathematical abilityOpen Targets
0.06Suggestive
corneal dystrophyOpen Targets
0.06Suggestive
placenta praeviaOpen Targets
0.05Suggestive
tooth diseaseOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
hyperaldosteronismOpen Targets
0.05Suggestive
smoking initiationOpen Targets
0.05Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
anorexia nervosaOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.04Suggestive
VertigoOpen Targets
0.04Suggestive
eye diseaseOpen Targets
0.04Suggestive
prostate cancerOpen Targets
0.04Suggestive
Abnormality of the genital systemOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MTRFRShared pathway100%MRPL20Protein interaction100%MRPS7Protein interaction100%MRPL9Protein interaction100%MRPL19Protein interaction100%MRPL12Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
62%
Liver
49%
Heart
47%
Ovary
47%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
MTRF1LMTRFRMRPL20MRPS7MRPL9MRPL19MRPL12
PROTEIN STRUCTURE
Preparing viewer…
PDB7NQH · 3.50 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.61–1.23]
RankingsWhere MTRF1L stands among ~20K protein-coding genes
  • #11,973of 20,598
    Most Researched30
  • #12,973of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedMTRF1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mendelian Randomization Analysis of Mitochondria-Related Genes and Screening of Prognostic Genes in Colorectal Cancer.
PMID: 40620061
Cancer Med · 2025
1.00
2
Molecular basis of translation termination at noncanonical stop codons in human mitochondria.
PMID: 37141370
Science · 2023
0.90
3
Integrative bioinformatics analysis for identifying the mitochondrial-related gene associated with immune infiltration in sarcopenia.
PMID: 41305746
Medicine (Baltimore) · 2025
0.80
4
Human mitochondrial protein complexes revealed by large-scale coevolution analysis and deep learning-based structure modeling.
PMID: 35881696
Bioinformatics · 2022
0.70
5
Exercise-induced mitochondrial biogenesis coincides with the expression of mitochondrial translation factors in murine skeletal muscle.
PMID: 30369085
Physiol Rep · 2018
0.60