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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MTFR1
mitochondrial fission regulator 1
Chromosome 8 · 8q13.1
NCBI Gene: 9650Ensembl: ENSG00000066855.17HGNC: HGNC:29510UniProt: B4E3G8
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrioncytosolplasma membraneneurodegenerative diseaseAlzheimer diseaseParkinson diseaselysosomal storage disease
✦AI Summary

MTFR1 (mitochondrial fission regulator 1) is a conserved mitochondrial protein essential for regulating mitochondrial dynamics and aerobic respiration. MTFR1 localizes to mitochondria and promotes mitochondrial fission, with structural studies showing it binds to Miro proteins through a conserved hydrophobic pocket, positioning it as a universal mitochondrial adaptor 1. In normal physiology, MTFR1 is required for oxygen consumption and ATP synthesis; inhibition of MTFR1 severely impairs mitochondrial respiration in testicular cells 2. Under metabolic stress, MTFR1 undergoes phosphorylation at serine 119 by NEK1, shifting its function toward promoting mitochondrial fusion rather than fission, which enhances oxidative phosphorylation and supports cell survival during glucose deprivation in colon cancer 3. Additionally, MTFR1 regulates T cell mitochondrial function and metabolic programming; miR-142 silencing increases MTFR1 expression, leading to enhanced mitochondrial function and reduced T cell pathogenicity in autoimmune uveitis 4. Clinically, MTFR1 is significantly elevated in multiple cancers and promotes aggressive phenotypes. In lung adenocarcinoma, MTFR1 overexpression drives cisplatin resistance through p-AKT and p-ERK/P38 signaling pathways and is an independent risk factor for unfavorable prognosis 5. In tongue squamous cell carcinoma, the SNHG1/miR-194-5p/MTFR1 axis promotes epithelial-mesenchymal transition and metastatic behaviors 6. MTFR1 also emerges as a lymphoma radiotherapy-resistance gene 7.

Sources cited
1
MTFR1 overexpression promotes lung adenocarcinoma progression and cisplatin resistance via p-AKT and p-ERK/P38 signaling pathways; associated with unfavorable prognosis
PMID: 38170222
2
MTFR1 phosphorylation at serine 119 by NEK1 promotes mitochondrial fusion and enhances oxidative phosphorylation during glucose deprivation in colon cancer
PMID: 40121946
3
MTFR1 is required for mitochondrial respiration; inhibition severely impairs oxygen consumption and ATP synthesis in testicular cells
PMID: 20568109
4
MTFR1 binds to Miro proteins through a conserved hydrophobic pocket in Miro's calcium-binding domain; functions as a universal mitochondrial adaptor
PMID: 38267654
5
SNHG1/miR-194-5p/MTFR1 axis promotes TGFβ1-induced epithelial-mesenchymal transition, migration and invasion in tongue squamous cell carcinoma
PMID: 35107755
6
miR-142 targets MTFR1; MTFR1 overexpression enhances mitochondrial function and reduces T cell pathogenicity in autoimmune uveitis
PMID: 40334625
7
MTFR1 identified as a lymphoma radiotherapy-resistance gene through CRISPR activation screening
PMID: 36743888
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.37Weak
acute tonsillitisOpen Targets
0.34Weak
Delayed pubertyOpen Targets
0.30Weak
osteitis deformansOpen Targets
0.17Weak
mathematical abilityOpen Targets
0.15Weak
smoking initiationOpen Targets
0.15Weak
type 1 diabetes mellitusOpen Targets
0.15Weak
attention deficit hyperactivity disorderOpen Targets
0.13Weak
mixed connective tissue diseaseOpen Targets
0.13Weak
intelligenceOpen Targets
0.12Weak
substance abuseOpen Targets
0.11Weak
stress-related disorderOpen Targets
0.11Weak
liver diseaseOpen Targets
0.11Weak
adjustment disorderOpen Targets
0.11Weak
Abnormality of the gastrointestinal tractOpen Targets
0.10Weak
joint diseaseOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MTFR2Shared pathway100%BPIFA2Protein interaction83%RASA1Protein interaction82%GEMIN5Protein interaction78%MTFR1LShared pathway67%ATAD3CShared pathway33%
Tissue Expression6 tissues
Liver
100%
Heart
48%
Brain
36%
Lung
36%
Bone Marrow
31%
Ovary
24%
Gene Interaction Network
Click a node to explore
MTFR1MTFR2BPIFA2RASA1GEMIN5MTFR1LATAD3C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15390
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.41–0.89]
RankingsWhere MTFR1 stands among ~20K protein-coding genes
  • #8,703of 20,598
    Most Researched51
  • #7,900of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedMTFR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Overexpression of MTFR1 promotes cancer progression and drug-resistance on cisplatin and is related to the immune microenvironment in lung adenocarcinoma.
PMID: 38170222
Aging (Albany NY) · 2024
1.00
2
MTFR1 phosphorylation-activated adaptive mitochondrial fusion is essential for colon cancer cell survival during glucose deprivation.
PMID: 40121946
Neoplasia · 2025
0.90
3
The nuclear genes Mtfr1 and Dufd1 regulate mitochondrial dynamic and cellular respiration.
PMID: 20568109
J Cell Physiol · 2010
0.80
4
Shared structural features of Miro binding control mitochondrial homeostasis.
PMID: 38267654
EMBO J · 2024
0.70
5
SNHG1/miR-194-5p/MTFR1 Axis Promotes TGFβ1-Induced EMT, Migration and Invasion of Tongue Squamous Cell Carcinoma Cells.
PMID: 35107755
Mol Biotechnol · 2022
0.60