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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PERM1
PPARGC1 and ESRR induced regulator, muscle 1
Chromosome 1 · 1p36.33
NCBI Gene: 84808Ensembl: ENSG00000187642.11HGNC: HGNC:28208UniProt: Q5SV97
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
response to muscle activityregulation of DNA-templated transcriptionnucleuscytoplasmatrial fibrillationNeutrophil inclusion bodiescongenital myasthenic syndrome 8Renal tubular epithelial cell apoptosis
✦AI Summary

PERM1 (PPARGC1 and ESRR induced regulator, muscle 1) functions as a transcriptional regulator essential for mitochondrial biogenesis and energy metabolism in striated muscle tissues. The protein promotes mitochondrial bioenergetics by enhancing the activity of PGC-1α and ERRα transcriptional networks, increasing mitochondrial DNA copy number and oxidative capacity in cardiomyocytes 1. PERM1 operates through multiple mechanisms including direct interaction with CaMKII to promote its activation and subsequent p38 MAPK signaling in skeletal muscle 2, and regulation of O-GlcNAcylation levels in cardiac tissue by suppressing OGT expression through E2F1 interaction 3. In cardiac muscle, PERM1 also interacts with troponin C and enhances contractile function while simultaneously promoting mitochondrial biogenesis 4. The protein shows significant disease relevance, as PERM1 expression is reduced in heart failure patients and mouse models of muscular dystrophy and diet-induced obesity 25. PERM1 knockdown impairs exercise-induced mitochondrial adaptations and reduces cellular resistance to hypoxia/reoxygenation stress 1. These findings suggest PERM1 represents a potential therapeutic target for metabolic and cardiac diseases, with gene delivery approaches showing promise for treating systolic heart failure 4.

Sources cited
1
PERM1 enhances PGC-1α and ERRα activity, increases mitochondrial DNA copy number and protects against hypoxia/reoxygenation stress
PMID: 34029594
2
PERM1 interacts with CaMKII to promote its activation and is required for exercise-induced mitochondrial adaptations
PMID: 30862473
3
PERM1 regulates mitochondrial energetics through suppression of O-GlcNAcylation via OGT downregulation
PMID: 39581161
4
PERM1 interacts with troponin C and enhances cardiac contractility while promoting mitochondrial biogenesis
PMID: 39269449
5
PERM1 expression is reduced in heart failure patients and regulates cardiac energetics through ERRα
PMID: 32574189
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.36Weak
congenital myasthenic syndrome 8Open Targets
0.33Weak
Neutrophil inclusion bodiesOpen Targets
0.33Weak
Renal tubular epithelial cell apoptosisOpen Targets
0.33Weak
skin diseaseOpen Targets
0.23Weak
actinic keratosisOpen Targets
0.16Weak
corneal dystrophyOpen Targets
0.16Weak
Åland Islands eye diseaseOpen Targets
0.03Suggestive
persistent truncus arteriosusOpen Targets
0.03Suggestive
heart failureOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
Duchenne muscular dystrophyOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.01Suggestive
Tetralogy of FallotOpen Targets
0.01Suggestive
obstructive sleep apneaOpen Targets
0.01Suggestive
autoimmune pancreatitisOpen Targets
0.01Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ESRRAProtein interaction85%FNDC5Shared pathway50%TOMM20Shared pathway17%METRNLShared pathway14%ABCG8Shared pathway10%ABCG5Shared pathway9%
Tissue Expression6 tissues
Heart
100%
Lung
2%
Liver
1%
Ovary
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PERM1ESRRAFNDC5TOMM20METRNLABCG8ABCG5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5SV97
View on AlphaFold ↗
RankingsWhere PERM1 stands among ~20K protein-coding genes
  • #17,409of 20,598
    Most Researched9
Genes detectedPERM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Adeno-associated virus-mediated gene delivery of
PMID: 39269449
Am J Physiol Heart Circ Physiol · 2024
1.00
2
PERM1-An Emerging Transcriptional Regulator of Mitochondrial Biogenesis: A Systematic Review.
PMID: 39457429
Genes (Basel) · 2024
0.90
3
Regulation of PERM1 and select target genes in human skeletal muscle following fasting and exercise.
PMID: 41759080
Appl Physiol Nutr Metab · 2026
0.80
4
NOR-1 Overexpression Elevates Myoglobin Expression via PERM1 and Enhances Mitochondrial Function and Endurance in Skeletal Muscles of Aged Mice.
PMID: 40235231
FASEB J · 2025
0.70
5
PERM1 regulates mitochondrial energetics through O-GlcNAcylation in the heart.
PMID: 39581161
J Mol Cell Cardiol · 2025
0.60