Affinage

PERM1

PGC-1 and ERR-induced regulator in muscle protein 1 · UniProt Q5SV97

Length
790 aa
Mass
81.4 kDa
Annotated
2026-06-10
21 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PERM1 is a striated muscle-enriched regulator of mitochondrial biogenesis and oxidative metabolism that functions downstream of the PGC-1α/ERR transcriptional program to set respiratory and contractile capacity in skeletal and cardiac muscle (PMID:23836911, PMID:26481306). It is an outer mitochondrial membrane protein bearing a C-terminal transmembrane helix, localizing to perinuclear and mitochondrial compartments, and its abundance is controlled by CK2-dependent phosphorylation of a PEST motif that targets it for proteasomal degradation (PMID:34385433, PMID:33549681, PMID:41759080). At the membrane, PERM1 physically associates with the MICOS-MIB complex and the adaptor ankyrin B to support subsarcolemmal mitochondrial number, membrane potential, and Complex I activity, with loss reducing muscle force (PMID:34385433). Functionally, PERM1 acts as a transcriptional coactivator: it binds PGC-1α, ERRα, and PPARα, occupies ERR and PPAR response elements at promoters of oxidative phosphorylation and fatty acid oxidation genes, and requires partners including BAG6 and KANK2 for full coactivator activity (PMID:34029594, PMID:36028747, PMID:36419485). It is positioned downstream of the muscle transcription factors Smyd1, PRDM16, and NOR-1, linking these programs to energetics, fatty acid metabolism, and myoglobin induction (PMID:32574189, PMID:42039588, PMID:40235231). PERM1 additionally couples energy state to contractility through interactions with CaMKII, troponin C, and creatine kinase, regulating exercise-induced signaling and contractile protein levels (PMID:30862473, PMID:39269449, PMID:42039588). It protects the heart by two further mechanisms: suppressing O-GlcNAcylation through E2F1-mediated repression of OGT (preserving PGC-1α/PPARα association) and activating Nrf2 antioxidant defense via cysteine oxidation of Keap1 at PERM1 residues Cys121 and Cys746, conferring resistance to ischemia/reperfusion injury (PMID:39581161, PMID:42118582). Gain-of-function delivery of PERM1 increases mitochondrial content, oxidative capacity, and fatigue resistance and preserves cardiac function under hypoxia, pressure overload, and PRDM16 deficiency (PMID:26481306, PMID:34029594, PMID:42039588, PMID:41256646).

Mechanistic history

Synthesis pass · year-by-year structured walk · 8 steps
  1. 2013 Medium

    Established PERM1 as a functional effector within the PGC-1α/ERR program rather than just a co-regulated gene, by showing its loss impairs respiration and PGC-1α-driven mitochondrial biogenesis.

    Evidence siRNA knockdown in myotubes with respiratory assays and genetic epistasis

    PMID:23836911

    Open questions at the time
    • Molecular activity (coactivator vs structural) undefined
    • No in vivo confirmation at this stage
    • No subcellular localization established
  2. 2015 High

    Demonstrated that PERM1 is sufficient in vivo to boost oxidative capacity and physiological performance, validating it as a positive driver of muscle mitochondrial content.

    Evidence AAV1 overexpression in adult mouse skeletal muscle with mitochondrial, capillary, and fatigue readouts

    PMID:26481306

    Open questions at the time
    • Mechanism of mitochondrial increase not resolved
    • No protein partners identified
    • No cardiac data
  3. 2019 High

    Identified CaMKII as a PERM1 binding partner and placed PERM1 in exercise-responsive signaling, explaining how it transduces contractile activity into adaptive mitochondrial gene programs.

    Evidence Co-IP/MS partner identification plus AAV-shRNA knockdown with exercise paradigms

    PMID:30862473

    Open questions at the time
    • Direct vs indirect CaMKII binding not dissected
    • How PERM1 promotes CaMKII activation mechanistically unclear
  4. 2020 High

    Embedded PERM1 in cardiac and adipocyte transcriptional networks, showing Smyd1 and ESRRG drive PERM1 and that PERM1 feeds back to activate ERRα and its targets to set energetics.

    Evidence ChIP, reporter assays, Seahorse, and gain/loss-of-function in cardiomyocytes and beige adipocytes

    PMID:32574189 PMID:32595605

    Open questions at the time
    • Whether PERM1 binds ERRα directly not yet shown here
    • Adipocyte mechanism limited in detail
  5. 2021 High

    Defined PERM1 as an outer mitochondrial membrane protein with a transmembrane helix that physically anchors subsarcolemmal mitochondria via MICOS-MIB and ankyrin B, and is turned over by CK2/PEST-dependent proteasomal degradation, establishing both its topology and structural role.

    Evidence Complexome profiling, Co-IP, transmembrane helix mapping, phosphoproteomics, and KO mouse phenotyping with metabolomics

    PMID:33549681 PMID:34029594 PMID:34385433

    Open questions at the time
    • Stoichiometry within MICOS-MIB unknown
    • How a mitochondrial membrane protein also acts in transcription not reconciled
    • Direct CK2 phosphosite consequences on localization untested
  6. 2022 High

    Resolved PERM1's transcriptional coactivator mechanism by showing it binds PPARα, PGC-1α, and ERRα, occupies PPRE/ERR promoters, and requires BAG6 and KANK2, with KO hearts losing fatty acid and OXPHOS gene expression and contractile function.

    Evidence Perm1 KO mice, ChIP at PPREs, Co-IP, mass spectrometry interactome, reporter and one-hybrid assays

    PMID:36028747 PMID:36419485

    Open questions at the time
    • How membrane-anchored PERM1 reaches chromatin unresolved
    • Roles of BAG6 and KANK2 in coactivation mechanistically undefined
  7. 2024 High

    Uncovered PERM1 control of O-GlcNAcylation and contractility, showing it represses OGT via E2F1 to protect PGC-1α/PPARα association and interacts with troponin C to regulate contractile protein levels.

    Evidence Cardiomyocyte overexpression, Ogt reporter assays, Co-IP (E2F1, TnC), and AAV9 in vivo contractility studies; human muscle fractionation/imaging

    PMID:39269449 PMID:39581161 PMID:41759080

    Open questions at the time
    • Whether OGA upregulation is direct or secondary unclear
    • Functional consequence of TnC binding on calcium sensitivity untested
  8. 2025 High

    Established PERM1 as a redox-active cardioprotective protein and a node downstream of PRDM16 and NOR-1, defining critical cysteines for Keap1 oxidation/Nrf2 activation and extending PERM1's protective effects to ischemia, pressure overload, and PRDM16 loss.

    Evidence KO/overexpression with IR and TAC models, site-directed mutagenesis of Cys121/Cys746, Keap1-Nrf2 Co-IP and degradation assays, AAV9 rescue of Prdm16 KO, and NOR-1 loss/gain-of-function

    PMID:40235231 PMID:41256646 PMID:42039588 PMID:42118582

    Open questions at the time
    • TAC and PRDM16 rescue studies are preprints not yet peer-reviewed
    • How cysteine oxidation of PERM1 is itself triggered unknown
    • Integration of redox sensing with its membrane/transcriptional roles unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how a single outer mitochondrial membrane protein with a C-terminal transmembrane anchor simultaneously functions as a nuclear transcriptional coactivator, a structural mitochondrial tether, and a Keap1 redox sensor.
  • No structural model linking the membrane-anchored and chromatin-associated pools
  • Mechanism of trafficking between compartments unknown
  • No human disease link established in the corpus

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 3 GO:0140110 transcription regulator activity 3 GO:0005198 structural molecule activity 1 GO:0140299 molecular sensor activity 1
Localization
GO:0005634 nucleus 3 GO:0005739 mitochondrion 3
Pathway
R-HSA-1430728 Metabolism 3 R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-397014 Muscle contraction 2 R-HSA-8953897 Cellular responses to stimuli 1
Complex memberships
MICOS-MIB complex

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2013 PERM1 (Perm1) acts downstream of PGC-1α and ERRs in skeletal muscle to regulate expression of selective PGC-1/ERR target genes involved in glucose and lipid metabolism, energy transfer, and contractile function; silencing Perm1 in myotubes reduces respiratory capacity and diminishes PGC-1α-induced mitochondrial biogenesis. siRNA knockdown in cultured myotubes, respiratory capacity assays, gene expression analysis; genetic epistasis placing Perm1 downstream of PGC-1α/ERR The Journal of biological chemistry Medium 23836911
2015 AAV1-mediated overexpression of Perm1 in adult mouse skeletal muscle in vivo increases mitochondrial content and oxidative capacity by 40–80%, increases capillary density, and increases fatigue resistance by ~31–33%, without prominent fiber-type composition changes. AAV1-mediated gene delivery in mice, mitochondrial content quantification, oxidative capacity assays, capillary density measurement, fatigue testing FASEB journal High 26481306
2019 Perm1 physically associates with CaMKII in skeletal muscle and promotes CaMKII activation; knockdown of Perm1 in mouse gastrocnemius via AAV-shRNA blunts exercise-induced CaMKII and p38 MAPK activation, reduces induction of oxidative metabolism regulators after acute exercise, and attenuates mitochondrial biogenesis after four weeks of voluntary training. Immunoprecipitation and mass spectrometry to identify Perm1-associated proteins; validated interaction with CaMKII; AAV-shRNA knockdown in vivo; treadmill exercise and voluntary wheel running with molecular readouts Molecular metabolism High 30862473
2020 Smyd1 (histone methyltransferase) directly occupies the Perm1 promoter in mouse heart, and Perm1 acts downstream of Smyd1 to regulate cardiac energetics; Perm1 overexpression rescues phenylephrine-induced downregulation of ERRα and its target Ndufv1 (Complex I); Perm1 dose-dependently activates the ERRα promoter and the ERRα target Ndufv1; siRNA knockdown of Perm1 reduces basal respiration and ATP production in cardiomyocytes. ChIP assay (Smyd1 at Perm1 promoter), adenovirus-mediated Perm1 overexpression, siRNA knockdown, Seahorse XF respiration assay, luciferase reporter gene assay PloS one High 32574189
2020 ESRRG and PERM1 are induced early during cold-mediated brite/beige adipocyte formation and positively regulate mitochondrial capacity within the PGC-1α transcriptional network; increased expression of PERM1 supports brite/beige adipocyte formation in vitro and in vivo. Transcriptome profiling of inguinal adipocytes during cold exposure, gain-of-function overexpression in vitro and in vivo, mitochondrial capacity assays Frontiers in endocrinology Medium 32595605
2021 PERM1 interacts with the MICOS-MIB complex and with the intracellular adaptor protein ankyrin B (ANKB), which connects the cytoskeleton to the plasma membrane; PERM1 contains a C-terminal transmembrane helix anchoring it to the outer mitochondrial membrane; Perm1 ablation in mice reduces muscle force, decreases mitochondrial membrane potential and Complex I activity, and reduces subsarcolemmal mitochondria (SSM) numbers. Protein interaction study (Co-IP/pulldown), complexome profiling, Perm1 knockout mice, mitochondrial membrane potential measurements, Complex I activity assay, SSM quantification, transmembrane helix identification Nature communications High 34385433
2021 PERM1 associates with the outer mitochondrial membrane and is subject to proteasomal degradation regulated by phosphorylation of its PEST motif by casein kinase 2 (CK2); Perm1 ablation reduces lipin-1 protein expression, causes accumulation of specific phospholipid species, and leads to downregulation of mitochondrial transport proteins for amino acids and carnitines (SLC25A12/13/29/34, CPT2), with altered levels of lipid species, amino acids, and acylcarnitines in Perm1−/− mitochondria. Phosphoproteomics, identification of PEST motif phosphorylation by CK2, Perm1 knockout mice, isolation of Perm1-deficient mitochondria, proteomics, metabolomics, lipid analysis Journal of molecular and cellular cardiology High 33549681
2021 Perm1 interacts with PGC-1α in cardiomyocytes and enhances activation of PGC-1 and ERR; Perm1 overexpression increases mitochondrial DNA copy number and oxidative capacity in neonatal mouse cardiomyocytes and reduces damage from hypoxia/reoxygenation stress. Co-immunoprecipitation, mitochondrial DNA copy number quantification, Seahorse oxidative capacity assay, hypoxia/reoxygenation cell death assay in neonatal mouse cardiomyocytes The Journal of biological chemistry Medium 34029594
2022 PERM1 physically interacts with PPARα and PGC-1α; PERM1 localizes to proximal PPAR response elements (PPREs) in endogenous promoters of fatty acid oxidation genes (ChIP assay); PERM1 promotes transcription via PPREs in a PPARα- and PGC-1α-dependent manner; Perm1 knockout mice show downregulation of genes involved in fatty acid and carbohydrate metabolism in the heart. Systemic Perm1 KO mouse generation, RNA-seq and pathway analysis, ChIP assay at PPRE-containing promoters, co-immunoprecipitation (PERM1 with PPARα and PGC-1α), reporter gene assay Scientific reports High 36028747
2022 PERM1 binds ERRα in cardiomyocytes and the mouse heart; PERM1 localizes to and activates ERR target promoters partly through ERRα; PERM1 functions as a transcriptional coactivator whose activity requires PGC-1α, BAG6, and KANK2 (identified as binding partners by mass spectrometry); Perm1−/− hearts show reduced ejection fraction, reduced phosphocreatine-to-ATP ratio, downregulation of oxidative phosphorylation proteins, and upregulation of glycolysis/polyol pathway. Perm1 KO mice, echocardiography, phosphocreatine-to-ATP ratio (31P-NMR or equivalent), proteomics, metabolomics, co-immunoprecipitation (PERM1-ERRα), mass spectrometry (binding partners: BAG6, KANK2), DNA binding assay, reporter gene assay, mammalian one-hybrid assay Frontiers in cardiovascular medicine High 36419485
2024 PERM1 overexpression decreases total O-GlcNAcylated protein levels by decreasing OGT expression (via interaction with transcription repressor E2F1 to suppress Ogt promoter activity) and increasing OGA expression; excessive O-GlcNAcylation caused by loss of PERM1 increases O-GlcNAcylation of PGC-1α and causes dissociation of PGC-1α from PPARα; PERM1 overexpression restores mitochondrial respiration impaired by elevated O-GlcNAcylation. PERM1 overexpression in cardiomyocytes, luciferase reporter assay (Ogt promoter), co-immunoprecipitation (PERM1-E2F1; PGC-1α-PPARα), Oga siRNA knockdown, Seahorse mitochondrial respiration assay, Western blot for O-GlcNAcylation Journal of molecular and cellular cardiology High 39581161
2024 AAV-mediated Perm1 gene delivery in mice enhances cardiac contractility and mitochondrial biogenesis; PERM1 physically interacts with troponin C (TnC) and AAV-Perm1 upregulates TnC protein levels, revealing a role for PERM1 in regulating cardiac contractility. AAV9-mediated Perm1 overexpression in mice, echocardiography, co-immunoprecipitation (PERM1-TnC), Western blot for TnC, mitochondrial DNA copy number American journal of physiology. Heart and circulatory physiology Medium 39269449
2025 Perm1 activates the Nrf2 antioxidant pathway by promoting cysteine oxidation of Keap1, which reduces Keap1-Nrf2 interaction and inhibits Cul3-mediated ubiquitination/degradation of Nrf2; Cys121 and Cys746 in Perm1 are critical for Keap1 oxidation and cardioprotection against ischemia/reperfusion injury. Perm1 KO and overexpression in mouse myocardium, IR injury model, cysteine oxidation assay of Keap1, Co-immunoprecipitation (Keap1-Nrf2), Cul3-mediated degradation assay, site-directed mutagenesis of Perm1 Cys121 and Cys746, Nrf2 target gene expression JCI insight High 42118582
2025 PERM1 is a direct downstream target of PRDM16; AAV9-Perm1 treatment of cardiac-specific Prdm16 KO mice improves contractile parameters, reduces LV dilation, and extends survival; Perm1 co-operates with PGC-1α downstream of PRDM16 to regulate fatty acid metabolism; co-immunoprecipitation shows PERM1 interacts with creatine kinase and troponin C. Transcriptomics and proteomics of cardiac-specific Prdm16 KO mice and iPSC-CMs, AAV9-Perm1 neonatal delivery, echocardiography, survival analysis, Co-immunoprecipitation (PERM1-creatine kinase; PERM1-TnC) bioRxivpreprint Medium 42039588
2025 AAV9-PERM1 in a pressure-overload (TAC) mouse model preserves left ventricular ejection fraction, abrogates cardiac hypertrophy and fibrosis, preserves mitochondrial DNA copy number and TFAM levels, improves mitochondrial respiration, and suppresses TAC-induced O-GlcNAcylation; co-immunoprecipitation confirms PERM1 interactions with creatine kinase and troponin C. AAV9-PERM1 delivery before TAC surgery, echocardiography, mitochondrial DNA quantification, Seahorse mitochondrial respiration, histology (fibrosis/hypertrophy), Western blot (O-GlcNAcylation, TFAM), Co-immunoprecipitation bioRxivpreprint Medium 41256646
2024 In human skeletal muscle, PERM1 protein localizes to the perinuclear region and is enriched in mitochondria (confirmed by immunolabeling, microscopy, and subcellular fractionation); HIIT training increases PERM1 isoform 2 protein and its target CKMT2. Immunolabeling, fluorescence microscopy, subcellular fractionation of human muscle biopsies, Western blotting Applied physiology, nutrition, and metabolism Medium 41759080
2025 NOR-1 (NR4A3) drives PERM1 expression, and PERM1 in turn mediates NOR-1-dependent upregulation of myoglobin; NOR-1 overexpression in aged muscle increases PERM1, CKMT2, and myoglobin levels and enhances mitochondrial respiration. In vitro NOR-1 knockdown in C2C12 myotubes, NOR-1 overexpression in aged mouse muscle via electroporation/AAV, Western blotting, mitochondrial respiration assay, gene expression analysis FASEB journal Medium 40235231

Source papers

Stage 0 corpus · 21 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2013 Peroxisome proliferator-activated receptor γ coactivator 1 (PGC-1)- and estrogen-related receptor (ERR)-induced regulator in muscle 1 (Perm1) is a tissue-specific regulator of oxidative capacity in skeletal muscle cells. The Journal of biological chemistry 98 23836911
2015 Perm1 enhances mitochondrial biogenesis, oxidative capacity, and fatigue resistance in adult skeletal muscle. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 53 26481306
2019 Perm1 regulates CaMKII activation and shapes skeletal muscle responses to endurance exercise training. Molecular metabolism 31 30862473
2021 Perm1 promotes cardiomyocyte mitochondrial biogenesis and protects against hypoxia/reoxygenation-induced damage in mice. The Journal of biological chemistry 29 34029594
2020 Perm1 regulates cardiac energetics as a downstream target of the histone methyltransferase Smyd1. PloS one 29 32574189
2021 PERM1 interacts with the MICOS-MIB complex to connect the mitochondria and sarcolemma via ankyrin B. Nature communications 19 34385433
2022 PERM1 regulates genes involved in fatty acid metabolism in the heart by interacting with PPARα and PGC-1α. Scientific reports 18 36028747
2022 PERM1 regulates energy metabolism in the heart via ERRα/PGC-1α axis. Frontiers in cardiovascular medicine 18 36419485
2021 Phosphoproteomics of the developing heart identifies PERM1 - An outer mitochondrial membrane protein. Journal of molecular and cellular cardiology 14 33549681
2020 ESRRG and PERM1 Govern Mitochondrial Conversion in Brite/Beige Adipocyte Formation. Frontiers in endocrinology 14 32595605
2018 Endurance training alters YKL40, PERM1, and HSP70 skeletal muscle protein contents in men with type 2 diabetes mellitus. Endocrine research 11 29781744
2024 The lncRNA lnc_AABR07044470.1 promotes the mitochondrial-damaged inflammatory response to neuronal injury via miR-214-3p/PERM1 axis in acute ischemic stroke. Molecular biology reports 7 38466466
2024 Adeno-associated virus-mediated gene delivery of Perm1 enhances cardiac contractility in mice. American journal of physiology. Heart and circulatory physiology 5 39269449
2024 PERM1 regulates mitochondrial energetics through O-GlcNAcylation in the heart. Journal of molecular and cellular cardiology 4 39581161
2025 NOR-1 Overexpression Elevates Myoglobin Expression via PERM1 and Enhances Mitochondrial Function and Endurance in Skeletal Muscles of Aged Mice. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 3 40235231
2024 PERM1-An Emerging Transcriptional Regulator of Mitochondrial Biogenesis: A Systematic Review. Genes 3 39457429
2025 PERM1 Gene Delivery via AAV Prevents Heart Failure in a Mouse Model of Pressure Overload. bioRxiv : the preprint server for biology 1 41256646
2022 Molecular mechanism of the ESRRG-PERM1-CKMT2 signal axis in ovariectomized female rats with OSAHS. Transplant immunology 1 35623593
2026 Regulation of PERM1 and select target genes in human skeletal muscle following fasting and exercise. Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme 0 41759080
2026 Perm1 Gene Therapy Mitigates PRDM16-Associated Cardiomyopathy. bioRxiv : the preprint server for biology 0 42039588
2026 Perm1 enhances Nrf2-driven antioxidant defense through Keap1 oxidation during myocardial ischemia/reperfusion injury. JCI insight 0 42118582

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