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GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MTFR1L
mitochondrial fission regulator 1 like
Chromosome 1 · 1p36.11
NCBI Gene: 56181Ensembl: ENSG00000117640.19HGNC: HGNC:28836UniProt: A0A0S2Z5H6
42PubMed Papers
17Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrionmitochondrial fissionaerobic respirationAbruptio Placentaeneoplasmbreast cancerAlzheimer disease
✦AI Summary

MTFR1L is a mitochondrial protein that serves as a critical regulator of mitochondrial dynamics and homeostasis, with emerging roles in aging and disease. Functionally, MTFR1L mediates mitochondrial morphology control and coordinates AMPK-dependent stress-induced mitochondrial fragmentation through OPA1 regulation 1. Beyond fission regulation, MTFR1L functions as a regulator of mitophagy by binding phosphorylated ubiquitin (p-S65-Ub), amplifying the PINK1/Parkin axis to facilitate clearance of damaged mitochondria 2. The protein undergoes post-translational modification via persulfidation at cysteine residues 222 and 230, which modulates its activity in maintaining mitochondrial integrity and ATP production 3. Clinically, MTFR1L shows significant relevance to aging and age-related diseases. Cardiac MTFR1L expression progressively declines with aging in mice, primates, and humans, correlating with cardiomyocyte senescence and accelerated cardiac dysfunction 2. Loss of MTFR1L impairs stress-induced mitophagy and increases damaged mitochondria accumulation, inflammation, and senescence 2. In pregnancy, reduced MTFR1L expression in pre-eclamptic placentas correlates with impaired cytotrophoblast invasion and migration 3. Additionally, MTFR1L exhibits sex-specific associations with cognitive trajectories in Alzheimer's disease, suggesting potential as a sex-specific biomarker 4.

Sources cited
1
MTFR1L phosphorylation at S235 increases with mitochondrial fragmentation; involved in metabolic reprogramming via FAK-ROCK mechanotransduction
PMID: 40977288
2
MTFR1L regulates mitophagy via p-S65-Ub/Parkin axis; cardiac MTFR1L declines with aging and loss impairs stress-induced mitophagy and mitochondrial homeostasis
PMID: 41576098
3
MTFR1L undergoes persulfidation at C222/C230 by H2S; required for mitochondrial morphology maintenance and cytotrophoblast invasion/migration; reduced in pre-eclampsia
PMID: 39854860
4
MTFR1L identified as protein with significant sex-by-trait interactions in cognitive trajectories in Alzheimer's disease
PMID: 40346727
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ17
Abruptio PlacentaeOpen Targets
0.28Weak
neoplasmOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
metastatic neoplasmOpen Targets
0.00Suggestive
mitochondrial diseaseOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
papillary renal cell carcinomaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARMC1Protein interaction80%MTFR1Shared pathway67%MTFR2Shared pathway67%MTFP1Shared pathway50%NDUFB11Shared pathway33%GDAP1Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Liver
46%
Ovary
42%
Brain
27%
Lung
20%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
MTFR1LARMC1MTFR1MTFR2MTFP1NDUFB11GDAP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H019
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.83Intermediate
Observed/Expected LoF0.34 [0.21–0.58]
RankingsWhere MTFR1L stands among ~20K protein-coding genes
  • #9,909of 20,598
    Most Researched42
  • #3,891of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedMTFR1L
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Unraveling sex differences in Alzheimer's disease and related endophenotypes with brain proteomes.
PMID: 40346727
Alzheimers Dement · 2025
1.00
2
FAK modulates glioblastoma stem cell energetics via regulation of glycolysis and glutamine oxidation.
PMID: 40977288
Dis Model Mech · 2025
0.75
3
MTFR1L is a cardiac antiaging factor for maintenance of mitochondrial homeostasis.
PMID: 41576098
Proc Natl Acad Sci U S A · 2026
0.50
4
Hydrogen sulfide sustains mitochondria functions via targeting mitochondria fission regulator 1 like protein to restore human cytotrophoblast invasion and migration.
PMID: 39854860
Int J Biol Macromol · 2025
0.25