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Showing PSMF1PI31 is a alias.

PSMF1

Proteasome inhibitor PI31 subunit · UniProt Q92530

Length
271 aa
Mass
29.8 kDa
Annotated
2026-06-10
23 papers in source corpus 18 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PSMF1/PI31 is a multifunctional proteasome regulator that controls 20S proteasome activity, proteasome assembly, and the spatial delivery of proteasomes within neurons (PMID:10764772, PMID:31327739, PMID:40337847, PMID:39868238). Its intrinsically disordered, proline-rich C-terminus physically enters the 20S core particle: two copies thread into the central cavity from opposite ends of the cylinder and simultaneously engage all six catalytic sites in a closed-gate conformation, blocking proteolysis of both peptide and protein substrates while resisting its own degradation (PMID:10764772, PMID:35927584, PMID:37236357). PI31 inhibits the constitutive 20S proteasome more potently than the immunoproteasome, which can cleave the PI31 C-terminus and thereby escape inhibition (PMID:38577872), and structural data indicate PI31 is enriched on aberrant core particles with abnormally open gates, consistent with a role in neutralizing defective proteasomes (PMID:35927584). Distinct from this inhibitory function, PI31 acts as a chaperone-like factor required specifically for assembly of the interferon-γ-induced immunoproteasome (PMID:40337847, PMID:39868238), and serves as an adaptor that couples proteasomes to dynein light chains DYNLL1/2 for microtubule-dependent axonal transport, an interaction enhanced by p38 MAPK phosphorylation (PMID:31327739). Through its conserved N-terminal FP domain PI31 homodimerizes and heterodimerizes with Fbxo7·Skp1, an interaction required for normal proteasome activity and mitochondrial homeostasis (PMID:18495667, PMID:38466799), and PI31 is the key downstream effector of Fbxo7 in neuroprotection (PMID:40956890). Loss of PI31 in neurons produces proteotoxic stress, axon degeneration, and progressive neurodegeneration in mice, and biallelic PSMF1 loss-of-function variants in patients impair mitochondrial function and reduce proteasome assembly (PMID:31754024, PMID:41986367, PMID:39148840).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2000 High

    Established PI31 as a direct proteasome inhibitor and localized the inhibitory activity to its proline-rich C-terminus, defining its founding biochemical function.

    Evidence Recombinant protein, truncation mutants, in vitro proteasome activity assays

    PMID:10764772

    Open questions at the time
    • Structural basis of inhibition unresolved
    • Physiological cellular consequence of inhibition not addressed
  2. 2008 High

    Defined the N-terminal FP domain as the structural module mediating PI31 homodimerization and heterodimerization with Fbxo7·Skp1, and showed PI31 is not an SCF(Fbxo7) substrate.

    Evidence Crystal structure, SEC/ITC, mutagenesis, co-IP, RNAi in cells

    PMID:18495667

    Open questions at the time
    • Functional consequence of the Fbxo7 interaction not defined
    • Cellular role of dimerization unknown
  3. 2014 High

    Clarified that PI31 carries an HbYX motif yet acts as an inhibitor, blocking 26S assembly in vitro, while revealing no detectable effect on bulk cellular proteasome activity upon perturbation.

    Evidence In vitro activity/assembly assays with mutants, RNAi and overexpression in cells

    PMID:24770418

    Open questions at the time
    • Discrepancy between in vitro inhibition and absent cellular phenotype unexplained
    • In vivo substrate context unknown
  4. 2014 Medium

    Genetic epistasis in yeast positioned the PI31 ortholog Fub1 as a functional antagonist of α7-mediated proteasome gate opening, connecting PI31 to core-particle activation control.

    Evidence Yeast double-mutant epistasis and α-subunit N-terminal deletion suppressor analysis

    PMID:25332237

    Open questions at the time
    • Direct molecular interaction with α7 not shown structurally
    • Relevance to mammalian PI31 not established here
  5. 2015 Medium

    Identified VCP as a direct PI31 interactor that antagonistically co-regulates proteasome activity, adding an AAA-ATPase node to PI31 regulation.

    Evidence Interaction assay and proteasome activity measurements

    PMID:26086101

    Open questions at the time
    • Limited methodological detail; interaction not reciprocally validated
    • Mechanism of antagonism undefined
  6. 2019 High

    Revealed a transport function distinct from inhibition: PI31 adapts proteasomes to dynein light chains DYNLL1/2 for axonal transport, regulated by p38 MAPK phosphorylation, linking PI31 to synaptic proteostasis.

    Evidence Reciprocal co-IP, live axonal transport imaging, phosphorylation assays, genetic inactivation in Drosophila and mouse neurons

    PMID:31327739

    Open questions at the time
    • How transport and inhibitory functions are coordinated unclear
    • Structural basis of DYNLL1/2 coupling not resolved
  7. 2019 Medium

    Connected PI31 to innate-immune signaling and antigen presentation, showing TBK1 phosphorylates PI31 downstream of NOD2/TLR2 to regulate MHC class I cross-presentation and immunoproteasome stability.

    Evidence Co-IP with TBK1 and Sec16A, phosphorylation assay, PI31 depletion in dendritic cells, cross-presentation and in vivo CD8+ T cell assays

    PMID:31114588

    Open questions at the time
    • Phosphosite-resolved mechanism not defined
    • Direct structural link to immunoproteasome unestablished here
  8. 2019 High

    Demonstrated in vivo that PI31 is essential for neuronal protein homeostasis, with proteotoxic stress preceding axon degeneration and neuronal loss.

    Evidence Conditional knockout in mouse motor neurons and Purkinje cells, histology, behavior, proteotoxic stress markers

    PMID:31754024

    Open questions at the time
    • Which PI31 function (inhibition vs transport) drives neuroprotection not separated
    • Molecular trigger of proteotoxic stress unresolved
  9. 2022 High

    Provided the structural mechanism of inhibition: the conserved C-terminal domain of the yeast ortholog simultaneously contacts all six active sites and evades degradation by distinct mechanisms, while keeping the gate closed and accumulating on aberrant proteasomes.

    Evidence Cryo-EM of Fub1 inside the core particle, active-site contact mutagenesis, inhibition assays

    PMID:35927584

    Open questions at the time
    • Whether the aberrant-proteasome-neutralizing role operates in mammals not tested
    • Regulation of entry into the barrel unknown
  10. 2023 High

    Confirmed the conserved inhibitory architecture in mammals, showing two PI31 C-termini enter the 20S cavity from opposite ends in a closed-gate state, and that PI31 inhibits proteasomes in mammalian cells.

    Evidence High-resolution cryo-EM of mammalian 20S–PI31 complex, cellular proteasome activity assays

    PMID:37236357

    Open questions at the time
    • Stoichiometry and dynamics of binding in vivo unresolved
    • How inhibition is relieved physiologically unknown
  11. 2024 High

    Distinguished PI31 action on the two proteasome isoforms, showing it inhibits the constitutive 20S more strongly because the immunoproteasome cleaves its C-terminus, with inhibition and degradation-resistance being coupled.

    Evidence In vitro assays with purified 20Sc and 20Si, point-mutant and degradation analyses

    PMID:38577872

    Open questions at the time
    • Cellular consequence of differential isoform inhibition not addressed here
    • Cleavage site mapping incomplete
  12. 2024 Medium

    Tied the Fbxo7–PI31 axis to human disease and mitochondrial regulation, showing a patient FBXO7 L250P mutation ablates the interaction, lowers PI31 and proteasome activity, and that PI31 facilitates SCF(Fbxo7) ubiquitination of fission adaptor MiD49.

    Evidence Patient fibroblasts, co-IP, proteasome activity and ubiquitination assays, mutant structural validation

    PMID:38466799

    Open questions at the time
    • Direct PI31–MiD49/51 interaction not reciprocally confirmed
    • Mechanism by which PI31 promotes MiD49 ubiquitination undefined
  13. 2024 Medium

    Placed PI31 within a disease-relevant dynein-proteasome degradation pathway, where freed Dynll1 in INF2 R218Q podocytes engages PI31 to deliver nephrin for proteasomal degradation.

    Evidence Knockdown of Dynll1/PI31, dynein inactivation, proteasome inhibition, nephrin stability assays in R218Q knock-in mouse podocytes

    PMID:39621430

    Open questions at the time
    • Direct PI31–nephrin physical link not shown
    • Generality beyond podocyte context unknown
  14. 2025 High

    Defined a chaperone-like assembly function specific to the immunoproteasome, showing PI31 ablation impairs 20Si assembly without affecting constitutive proteasome content or activity.

    Evidence CRISPR/Cas9 ablation in mammalian cells, IFN-γ induction, activity assays, assembly intermediate analysis

    PMID:39868238 PMID:40337847

    Open questions at the time
    • Molecular step in 20Si assembly catalyzed by PI31 unresolved
    • Relationship to its inhibitory function unclear
  15. 2025 High

    Established PI31 as the key downstream effector of Fbxo7 neuroprotection, with PI31 restoration rescuing neurodegeneration, lifespan, and suppressing tau hyperphosphorylation in Fbxo7 mutants.

    Evidence Transgenic PI31 rescue in Fbxo7 mutant Drosophila and mouse, neuronal survival, tau phosphorylation, lifespan/locomotor assays

    PMID:40956890

    Open questions at the time
    • Mechanism linking PI31 to tau phosphorylation undefined
    • Which PI31 molecular activity mediates rescue not isolated
  16. 2025 Medium

    Linked biallelic PSMF1 loss-of-function to a human disorder with mitochondrial and proteasomal defects, recapitulated by dopaminergic neurodegeneration in flies.

    Evidence Patient fibroblast assays (membrane potential, dynamics, mitophagy, assembly), Drosophila and mouse loss-of-function models

    PMID:39148840 PMID:41986367

    Open questions at the time
    • Causal chain from PI31 loss to mitochondrial depolarization unresolved
    • Genotype-phenotype spectrum not fully defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How PI31's multiple functions — active-site inhibition, immunoproteasome assembly, dynein-mediated transport, and Fbxo7-dependent mitochondrial regulation — are coordinated and which is decisive for neuroprotection remains unresolved.
  • No unified model coupling inhibitory and adaptor functions
  • Regulatory switch governing barrel entry vs transport unknown
  • Direct mechanistic basis for mitochondrial phenotypes undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 4 GO:0060090 molecular adaptor activity 2 GO:0044183 protein folding chaperone 1
Localization
GO:0005783 endoplasmic reticulum 1 GO:0005829 cytosol 1
Pathway
R-HSA-392499 Metabolism of proteins 4 R-HSA-168256 Immune System 2 R-HSA-9609507 Protein localization 1
Complex memberships
20S proteasome core particleSCF(Fbxo7)immunoproteasome (20Si)

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2000 PI31 is a proline-rich inhibitor of the 20S proteasome; its C-terminal proline-rich domain confers inhibition by forming a proteasome-PI31 complex and blocking hydrolysis of both protein and peptide substrates. PI31 also inhibits activation of the proteasome by regulatory proteins PA700 and PA28. Recombinant protein expression in E. coli, truncation mutant analysis, in vitro proteasome activity assays The Journal of biological chemistry High 10764772
2008 PI31 interacts with Fbxo7·Skp1 through a conserved N-terminal FP (Fbxo7/PI31) domain that mediates both homodimerization of PI31 and heterodimerization with Fbxo7. The crystal structure of the PI31 FP domain reveals a novel α/β-fold. Knockdown of Fbxo7 does not affect PI31 levels, arguing against PI31 being an SCF(Fbxo7) substrate. Crystal structure determination, biophysical analysis (SEC, ITC), site-directed mutagenesis, co-immunoprecipitation, RNAi knockdown The Journal of biological chemistry High 18495667
2014 PI31 contains a C-terminal HbYX motif; peptides corresponding to this motif bind to and activate the 20S proteasome in an HbYX-dependent manner, but intact PI31 inhibits 20S activity. PI31 blocks ATP-dependent in vitro assembly of 26S proteasome from 20S and PA700 subcomplexes but has no effect on activity of intact 26S proteasome. Ectopic overexpression or RNAi knockdown of PI31 in cells produced no detectable change in overall cellular proteasome content or function. In vitro proteasome activity assays with truncation and point mutants, 26S assembly assay, RNAi knockdown, ectopic overexpression The Journal of biological chemistry High 24770418
2014 In yeast (S. cerevisiae), the PI31 ortholog Fub1 is essential when the CP assembly chaperone Pba4 is deleted. Deletion of the N-terminus of α7 (α7ΔN), but not α3ΔN, suppresses the lethality of Δfub1 Δpba4, indicating that Fub1 functionally antagonizes a specific gate-opening role of the α7 N-terminus in CP activation. Yeast genetic epistasis (double-mutant analysis), suppressor screen with α-subunit N-terminal deletions Molecular and cellular biology Medium 25332237
2015 VCP (type II AAA-ATPase) directly interacts with PSMF1/PI31 and the two proteins antagonistically regulate proteasomal activity. Direct interaction assay (co-immunoprecipitation/pull-down implied), proteasome activity measurements Biochemical and biophysical research communications Medium 26086101
2019 PI31 serves as an adaptor to couple proteasomes with dynein light chain proteins DYNLL1/2, enabling microtubule-dependent transport of proteasomes in axons. Phosphorylation of PI31 by p38 MAPK enhances PI31 binding to DYNLL1/2 and promotes directional movement of proteasomes in axons. Inactivation of PI31 inhibited proteasome motility in axons and disrupted synaptic proteostasis, structure, and function. Co-immunoprecipitation, live-cell axonal transport imaging, phosphorylation assays, PI31 inactivation in Drosophila and mouse neurons, synaptic structure/function readouts Developmental cell High 31327739
2019 PI31 interacts with TBK1 and Sec16A at endoplasmic reticulum exit sites (ERES); NOD2/TLR2 signaling causes TBK1 to phosphorylate PI31 in dendritic cells, which positively regulates MHC class I peptide loading and immunoproteasome stability. Depletion of PI31 impairs DC cross-presentation and CD8+ T cell activation. Co-immunoprecipitation of PI31 with TBK1 and Sec16A, phosphorylation assay, PI31 depletion in dendritic cells, cross-presentation assay, in vivo CD8+ T cell activation Frontiers in immunology Medium 31114588
2019 Conditional knockout of PI31 in mouse spinal motor neurons and cerebellar Purkinje cells causes markers of proteotoxic stress followed by axon degeneration, neuronal loss, and progressive motor dysfunction, establishing PI31 as essential for neuronal protein homeostasis in vivo. Conditional knockout mouse model, histological and behavioral analysis, proteotoxic stress markers Proceedings of the National Academy of Sciences of the United States of America High 31754024
2022 Cryo-EM structure of S. cerevisiae PI31 (Fub1) inside the proteasome core particle shows that the conserved C-terminal domain simultaneously interacts with all six active sites. Targeted mutations disrupt inhibition at individual active sites independently. Fub1 evades degradation through distinct mechanisms at each active site. The proteasome gate is constitutively closed when Fub1 is bound, and Fub1 is enriched in mutant CPs with an abnormally open gate, suggesting Fub1 neutralizes aberrant proteasomes. Cryo-EM structure determination, site-directed mutagenesis of active-site contacts, biochemical proteasome inhibition assays Nature structural & molecular biology High 35927584
2023 High-resolution cryo-EM structure of the mammalian 20S proteasome–PI31 complex shows that two copies of the intrinsically disordered C-terminus of PI31 enter the central cavity from opposite ends of the 20S cylinder and interact with catalytic sites in a closed-gate conformation, blocking proteolysis while resisting their own degradation. PI31 can inhibit proteasome activity in mammalian cells. Cryo-EM structure determination, cellular proteasome activity assays The Journal of biological chemistry High 37236357
2024 PI31 inhibits the constitutive 20S proteasome (20Sc) more strongly than the immunoproteasome (20Si). Unlike 20Sc, 20Si hydrolyzes the C-terminus of PI31, contributing to reduced PI31 inhibitory activity toward 20Si. PI31 point mutants that lose inhibition of 20Sc are degraded by 20Sc. In vitro proteasome activity assays with purified 20Sc and 20Si, PI31 point mutant analysis, proteolytic degradation assays Biochemistry High 38577872
2024 An FBXO7 L250P patient mutation selectively ablates the Fbxo7–PI31 interaction and causes reduced Fbxo7 and PI31 levels in patient fibroblasts, reduced proteasome activity and proteasome subunit levels. PI31 interacts with mitochondrial fission adaptors MiD49/51 and facilitates SCF(Fbxo7)-mediated ubiquitination of MiD49. Patient fibroblast analysis, co-immunoprecipitation, proteasome activity assay, ubiquitination assay, L250P mutant structural validation The FEBS journal Medium 38466799
2024 The INF2 R218Q mutation disrupts sequestration of Dynll1 by INF2, freeing Dynll1 to interact with PI31 and promoting dynein-mediated transport of nephrin to the proteasome for degradation. Knockdown of Dynll1 or PI31, dynein inactivation, or proteasome inhibition each restores nephrin proteostasis in R218Q podocytes. Genetic knockdown (Dynll1, PI31), dynein inactivation, proteasome inhibition, nephrin stability assays in R218Q KI mouse podocytes, in vivo mouse model Kidney360 Medium 39621430
2025 Genetic ablation of PI31 in mammalian cells had no effect on constitutive proteasome content or activity but reduced the cellular content and activity of interferon-γ-induced immunoproteasomes (20Si) due to impaired 20Si assembly, evidenced by accumulation of 20Si assembly intermediates. PI31 thus plays a chaperone-like role specifically in 20Si assembly. CRISPR/Cas9 genetic ablation in mammalian cells, immunoproteasome induction by IFN-γ, proteasome activity assays, analysis of assembly intermediates Journal of cell science High 39868238 40337847
2025 Restoring PI31 levels in Fbxo7 mutant flies and mice prevents neuronal degeneration and improves neuronal function and lifespan. Fbxo7 inactivation in mouse neurons causes tau hyperphosphorylation, which is suppressed by transgenic PI31 expression, establishing PI31 as the key downstream effector of Fbxo7 in neuroprotection. Transgenic PI31 expression in Fbxo7 mutant Drosophila and mouse models, neuronal survival assays, tau phosphorylation analysis, lifespan and locomotor assays Proceedings of the National Academy of Sciences of the United States of America High 40956890
2025 Biallelic PSMF1 loss-of-function variants in patients impair mitochondrial membrane potential, dynamics, and mitophagy, and reduce proteasomal abundance and assembly in patient-derived fibroblasts. PI31 loss-of-function in Drosophila causes dopaminergic neurodegeneration and mitochondrial depolarization. Patient-derived fibroblast functional assays (mitochondrial membrane potential, dynamics, mitophagy, proteasome assembly), Drosophila and mouse loss-of-function models Nature communications Medium 39148840 41986367

Source papers

Stage 0 corpus · 23 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2000 cDNA cloning, expression, and functional characterization of PI31, a proline-rich inhibitor of the proteasome. The Journal of biological chemistry 110 10764772
2008 Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor. The Journal of biological chemistry 76 18495667
2014 Molecular and cellular roles of PI31 (PSMF1) protein in regulation of proteasome function. The Journal of biological chemistry 55 24770418
2019 PI31 Is an Adaptor Protein for Proteasome Transport in Axons and Required for Synaptic Development. Developmental cell 46 31327739
2019 The proteasome regulator PI31 is required for protein homeostasis, synapse maintenance, and neuronal survival in mice. Proceedings of the National Academy of Sciences of the United States of America 33 31754024
2015 VCP and PSMF1: Antagonistic regulators of proteasome activity. Biochemical and biophysical research communications 27 26086101
2019 NOD2 and TLR2 Signal via TBK1 and PI31 to Direct Cross-Presentation and CD8 T Cell Responses. Frontiers in immunology 24 31114588
2023 Ηigh-resolution structure of mammalian PI31-20S proteasome complex reveals mechanism of proteasome inhibition. The Journal of biological chemistry 20 37236357
2022 Yeast PI31 inhibits the proteasome by a direct multisite mechanism. Nature structural & molecular biology 20 35927584
2021 Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival. Cancer immunology, immunotherapy : CII 18 33651148
2014 N-terminal α7 deletion of the proteasome 20S core particle substitutes for yeast PI31 function. Molecular and cellular biology 14 25332237
2024 Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria. The FEBS journal 10 38466799
2023 Rational design of proteasome inhibitors based on the structure of the endogenous inhibitor PI31/Fub1. Proceedings of the National Academy of Sciences of the United States of America 8 38091293
2010 Characterization and mRNA expression analysis of PI31, an endogenous proteasome inhibitor from Schistosoma mansoni. Parasitology research 8 20680343
2014 The FP domains of PI31 and Fbxo7 have the same protein fold but very different modes of protein-protein interaction. Journal of biomolecular structure & dynamics 7 25266262
2025 Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function. medRxiv : the preprint server for health sciences 5 39148840
2016 The FBXO7 homologue nutcracker and binding partner PI31 in Drosophila melanogaster models of Parkinson's disease. Genome 5 27936908
2025 PI31 is a positive regulator of 20S immunoproteasome assembly. Journal of cell science 4 40337847
2024 Differential Interactions of the Proteasome Inhibitor PI31 with Constitutive and Immuno-20S Proteasomes. Biochemistry 4 38577872
2025 PI31 expression is neuroprotective in a mouse model of early-onset parkinsonism. Proceedings of the National Academy of Sciences of the United States of America 2 40956890
2024 Dynll1-PI31 Interaction Enhances Proteolysis Through the Proteasome, Representing a Novel Therapeutic Target for INF2-Related FSGS. Kidney360 1 39621430
2026 Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality. Nature communications 0 41986367
2025 PI31 is a positive regulator of 20S immunoproteasome assembly. bioRxiv : the preprint server for biology 0 39868238

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