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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MTERF1
mitochondrial transcription termination factor 1
Chromosome 7 · 7q21.2
NCBI Gene: 7978Ensembl: ENSG00000127989.14HGNC: HGNC:21463UniProt: B4DPR9
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial nucleoidRNA bindingprotein bindingsmoking initiationobesityliver diseasecolorectal carcinoma
✦AI Summary

MTERF1 is a mitochondrial transcription termination factor that recognizes and binds a 28 bp termination sequence within the tRNA(Leu) gene, immediately downstream of the 16S rRNA gene 1. The protein exhibits a superhelical topology complementary to DNA major groove binding, facilitating spontaneous diffusion on DNA during non-specific search mode before transitioning to high-affinity recognition 2. MTERF1 terminates transcription through a distinctive mechanism involving helix unwinding and base flipping of three nucleotides, with stepwise eversion stabilized by critical stacking interactions 13. This termination activity is polarized with highest specificity for light-strand-initiated transcripts 4. Beyond transcription termination, MTERF1 functions as a directional contrahelicase, blocking mtDNA replication fork progression through interaction with TWINKLE helicase 4. MTERF1 positively regulates mitochondrial gene transcription and oxidative phosphorylation activity, promoting ATP synthesis and cell proliferation through cyclin D1 upregulation 5. Under hypoxic conditions, MTERF1 operates downstream of focal adhesion kinase to modulate cell proliferation 6. Disease-associated G3249A and G3244A mutations eliminate termination by disrupting critical sequence recognition interactions 1, linking MTERF1 dysfunction to mitochondrial disease and age-related pathologies 7.

Sources cited
1
MTERF1 has superhelical topology complementary to DNA major groove and undergoes conformational changes between search mode and specific binding mode
PMID: 26673724
2
MTERF1 terminates mitochondrial transcription through helix unwinding and base flipping of three nucleotides; disease mutations G3249A and G3244A eliminate termination
PMID: 20550934
3
MTERF1 base flipping occurs stepwise with critical stacking interactions and MTERF1 accommodates alternate active conformations
PMID: 26523681
4
MTERF1 acts as a directional contrahelicase blocking mtDNA replication fork progression through interaction with TWINKLE helicase
PMID: 27112570
5
MTERF1 positively regulates mitochondrial gene transcription, oxidative phosphorylation, ATP synthesis, cyclin D1 expression and cell proliferation
PMID: 24777141
6
MTERF1 operates downstream of focal adhesion kinase in hypoxia-induced cell proliferation pathway
PMID: 38488492
7
MTERF1 deficiency is linked to mitochondrial disease and age-related pathologies affecting energy production
PMID: 31309618
Disease Associationsⓘ20
smoking initiationOpen Targets
0.16Weak
obesityOpen Targets
0.14Weak
liver diseaseOpen Targets
0.13Weak
colorectal carcinomaOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
hemangiomaOpen Targets
0.04Suggestive
lymphangiomaOpen Targets
0.04Suggestive
heart diseaseOpen Targets
0.03Suggestive
hypertrophic cardiomyopathyOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
diabetic nephropathyOpen Targets
0.01Suggestive
liver dysplastic noduleOpen Targets
0.01Suggestive
MELASOpen Targets
0.01Suggestive
male infertilityOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
ischemiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TFB1MProtein interaction92%MTERF3Protein interaction86%TFB2MProtein interaction85%TEFMProtein interaction85%MTERF4Protein interaction78%GABPAProtein interaction78%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
65%
Heart
62%
Ovary
54%
Brain
35%
Lung
32%
Gene Interaction Network
Click a node to explore
MTERF1TFB1MMTERF3TFB2MTEFMMTERF4GABPA
PROTEIN STRUCTURE
Preparing viewer…
PDB3MVA · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.66–1.21]
RankingsWhere MTERF1 stands among ~20K protein-coding genes
  • #9,349of 20,598
    Most Researched46
  • #12,669of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedMTERF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A human transcription factor in search mode.
PMID: 26673724
Nucleic Acids Res · 2016
1.00
2
Mitochondrial E3 ligase MARCH5 is a safeguard against DNA-PKcs-mediated immune signaling in mitochondria-damaged cells.
PMID: 38040710
Cell Death Dis · 2023
0.90
3
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription.
PMID: 20550934
Cell · 2010
0.80
4
FAK mediates hypoxia-induced pulmonary artery smooth muscle cell proliferation by modulating mitochondrial transcription termination factor 1/cyclin D1.
PMID: 38488492
Clin Transl Sci · 2024
0.70
5
Mechanisms of mammalian mitochondrial transcription.
PMID: 31309618
Protein Sci · 2019
0.60