Affinage

PPIL1

Peptidyl-prolyl cis-trans isomerase-like 1 · UniProt Q9Y3C6

Length
166 aa
Mass
18.2 kDa
Annotated
2026-06-10
21 papers in source corpus 10 papers cited in narrative 10 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/6 claims corpus-supported (83%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PPIL1 is a cyclophilin-family peptidyl-prolyl cis/trans isomerase that functions principally as a non-catalytic structural component of the spliceosome (PMID:16595688, PMID:33220177). It is recruited into the U5 snRNP and activated spliceosome by the coregulator SKIP/SNW1, whose intrinsically disordered N-terminal region undergoes a disorder-to-order transition and docks onto a surface of PPIL1 distinct from the PPIase active site, leaving the catalytic pocket free (PMID:16595688, PMID:20007319, PMID:20368803). This recruitment interface is conserved across species (PMID:11690648). Although PPIL1 forms an isomerase–substrate interaction with the spliceosomal factor PRP17, its enzymatic activity is dispensable for spliceosomal function, which instead depends on a structural role; biallelic loss-of-function mutations disrupt splicing of short, high-GC-content introns and cause neuron-specific apoptosis and pontocerebellar hypoplasia with microcephaly (PMID:33220177). Beyond splicing, PPIL1 promotes cancer cell proliferation and tumor growth, acting in liver cancer through transcriptional upregulation of DAAM2 and Wnt/β-catenin signaling (PMID:16397026, PMID:40883023), and is engaged by the intracellular C3b complement fragment downstream of S1PR1 to drive NLRP3 inflammasome activation and metastasis (PMID:36476873). PPIL1 is also recruited via proline-rich PxxP motifs at its catalytic face into EWS low-complexity-domain condensates, altering their phase-separation properties (PMID:40668764).

Mechanistic history

Synthesis pass · year-by-year structured walk · 9 steps
  1. 2001 Medium

    Established that the PPIL1–SKIP interaction is evolutionarily conserved and cyclosporin A-independent, defining SKIP as the canonical partner of this cyclophilin before its human characterization.

    Evidence Yeast two-hybrid screens in Dictyostelium and S. pombe identifying CypE/Cyp2 orthologues, plus in vitro PPIase assay

    PMID:11690648

    Open questions at the time
    • Restricted to non-human orthologs
    • Did not establish where on PPIL1 SKIP binds
    • No spliceosomal function tested directly
  2. 2006 High

    Determined the PPIL1 fold and demonstrated that SKIP binds at a site distinct from the PPIase active site, raising the question of whether enzymatic and scaffolding functions are separable.

    Evidence NMR structure, GST pulldown, SPR (Kd = 1.25×10⁻⁷ M), chemical shift perturbation NMR

    PMID:16595688

    Open questions at the time
    • Did not resolve the bound complex structure
    • Functional consequence of leaving active site free not tested
  3. 2006 Medium

    Linked PPIL1 to cancer cell growth and physically confirmed SKIP/SNW1 and stathmin as interactors in human cells.

    Evidence siRNA knockdown growth assay, colony formation, co-immunoprecipitation in colon cancer cells

    PMID:16397026

    Open questions at the time
    • Mechanism connecting PPIL1 to proliferation unresolved
    • Stathmin interaction not followed up mechanistically
    • Single lab
  4. 2009 High

    Showed the SKIP N-terminus is intrinsically disordered and folds upon binding PPIL1 through a minimal 21-residue fragment, explaining how recruitment occurs while preserving an open active site.

    Evidence NMR structure of PBF·PPIL1 complex and NMR dynamics analysis

    PMID:20007319

    Open questions at the time
    • Identity of physiological active-site substrates not defined
    • In-spliceosome geometry not resolved
  5. 2010 High

    Provided a high-resolution structural and docking model of how SKIP recruits PPIL1 into the spliceosome core via a defined linear epitope.

    Evidence 1.15 Å crystal structure of PPIL1·CsA, peptide array epitope mapping, molecular docking

    PMID:20368803

    Open questions at the time
    • Docking model not validated by complex crystal structure
    • Catalytic role within assembled spliceosome unresolved
  6. 2020 High

    Resolved the long-standing question of whether PPIL1's isomerase activity is required for function, establishing a non-enzymatic spliceosomal role and a causal link to human disease.

    Evidence Patient genetics across 10 families, knockin mouse with neuronal apoptosis, RNA-seq splicing analysis, isomerase-activity mutagenesis; PRP17 identified as isomerase substrate

    PMID:33220177

    Open questions at the time
    • Why short GC-rich introns are selectively vulnerable not mechanistically explained
    • Structural basis of the non-catalytic role undefined
    • Neuron-specificity of phenotype not fully explained
  7. 2022 Medium

    Identified a spliceosome-independent role linking PPIL1 to innate immune signaling and metastasis through intracellular complement.

    Evidence Site-directed mutagenesis of C3b (E156/D111), co-IP, in vivo lung colonization, NLRP3 inflammasome readout

    PMID:36476873

    Open questions at the time
    • PPIL1 residues mediating C3b binding not mapped
    • Mechanism connecting PPIL1 to NLRP3 activation unresolved
    • Single lab
  8. 2025 Medium

    Demonstrated that PPIL1 engages proline-rich PxxP motifs of the EWS low-complexity domain at its catalytic face and modulates condensate properties, implicating it in phase separation.

    Evidence NMR titration and phase separation/droplet assays

    PMID:40668764

    Open questions at the time
    • Low-affinity fuzzy interaction physiological relevance unclear
    • Cellular consequence of condensate modulation untested
    • Context-dependent (blocked by RRM/RGG2 domains)
  9. 2025 Medium

    Connected PPIL1's pro-proliferative role to a specific transcriptional output in liver cancer.

    Evidence shRNA knockdown, xenograft model, sphere formation, transcriptome analysis identifying DAAM2/Wnt-β-catenin

    PMID:40883023

    Open questions at the time
    • How a spliceosomal isomerase regulates DAAM2 transcription unresolved
    • Direct vs indirect effect on Wnt signaling unclear
    • Single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • How a single splicing-associated cyclophilin mediates such diverse spliceosome-independent functions (complement/inflammasome, condensate modulation, Wnt-driven proliferation), and what structural feature underlies its catalysis-independent spliceosomal role, remains unresolved.
  • No unifying mechanism linking nuclear splicing and cytoplasmic/immune roles
  • Physiological substrate(s) of PPIL1 PPIase activity unknown
  • Structural basis of non-catalytic spliceosomal function undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016853 isomerase activity 3 GO:0140096 catalytic activity, acting on a protein 2
Localization
GO:0005634 nucleus 2
Pathway
R-HSA-8953854 Metabolism of RNA 2
Complex memberships
U5 snRNPactivated spliceosome

Evidence

Reading pass · 10 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2006 NMR solution structure of PPIL1 was determined, revealing a cyclophilin-family fold with PPIase activity. GST pulldown and surface plasmon resonance experiments established that PPIL1 stably associates with the N-terminal region of SKIP (residues 59–129) with a dissociation constant of 1.25×10⁻⁷ M. Chemical shift perturbation NMR mapped the SKIP binding interface on PPIL1 to a site distinct from the PPIase active site. NMR structure determination, GST pulldown, surface plasmon resonance, chemical shift perturbation NMR The Journal of biological chemistry High 16595688
2009 The N-terminal region of SKIP (residues 59–129) is intrinsically disordered; upon binding PPIL1 it undergoes a disorder-to-order transition. NMR structure of the PBF·PPIL1 complex showed that a minimal 21-residue SKIP fragment (residues 59–79) binds PPIL1 via electrostatic and hydrophobic interactions through a region distinct from the PPIase active site, leaving the active site open and available for isomerase/chaperone activity on other spliceosomal substrates. NMR structure determination of complex, NMR dynamics analysis of intrinsic disorder The Journal of biological chemistry High 20007319
2010 Crystal structure of PPIL1 bound to the inhibitor cyclosporine A (CsA) was solved at 1.15 Å resolution (SAD phasing with Cd²⁺). A peptide array identified a minimal 36-residue linear epitope from SKIP (centred on an 8-residue core) sufficient to bind PPIL1 in pulldown assays. Molecular docking using the crystal structure and NMR data produced a model in which a SKIP proline is buried in a hydrophobic pocket of PPIL1, surrounded by hydrogen bonds, consistent with SKIP recruiting PPIL1 into the spliceosome core. X-ray crystallography (1.15 Å), peptide array, GST pulldown, molecular docking PloS one High 20368803
2006 PPIL1 promotes colon cancer cell growth: siRNA knockdown of PPIL1 in SNUC4/SNUC5 cells retarded proliferation, and overexpression increased colony formation in NIH3T3 and HEK293 cells. Co-immunoprecipitation identified SNW1/SKIP and stathmin as PPIL1-interacting proteins. siRNA knockdown + growth assay, colony formation assay, co-immunoprecipitation Clinical cancer research Medium 16397026
2001 Yeast two-hybrid screens in Dictyostelium discoideum and Schizosaccharomyces pombe identified cyclophilins (CypE/Cyp2) as the orthologues of human PPIL1; both bind their respective SNW/SKIP proteins at the N-terminal region of SNW in a cyclosporin A-independent manner, establishing the conserved PPIL1–SKIP interaction. CypE was confirmed in vitro to have cyclosporin A-sensitive PPIase activity. Yeast two-hybrid, in vitro PPIase activity assay Biochimica et biophysica acta Medium 11690648
2020 Biallelic loss-of-function mutations in PPIL1 cause pontocerebellar hypoplasia with microcephaly (PCHM) in humans. PPIL1 patient-mutation knockin mice showed neuron-specific apoptosis. Loss of PPIL1 disrupted splicing integrity, predominantly affecting short and high-GC-content introns and genes linked to brain disorders. PPIL1 and PRP17 form an active isomerase–substrate interaction, but isomerase activity per se is not critical for PPIL1's spliceosomal function, establishing a non-enzymatic role for the prolyl isomerase. Patient genetics, PPIL1 knockin mouse model (neuronal apoptosis readout), splicing analysis (RNA-seq of affected introns), biochemical isomerase-activity mutagenesis Neuron High 33220177
2004 PPIL1 is recruited by SKIP into the spliceosome as a foldase/prolyl isomerase, providing a mechanistic link between the SKIP transcriptional coregulator and spliceosome activation; PPIL1 is a component of the 35S U5 snRNP and the 45S activated spliceosome. Biochemical fractionation/spliceosome purification (review of primary data) Cellular and molecular life sciences : CMLS Low 15052407
2022 Intracellular C3b-α'2 (generated downstream of S1PR1 activation) associates with PPIL1 via glutamic acid 156 (E156) and aspartic acid 111 (D111) of C3b-α'2, and this interaction is required for NLRP3/inflammasome induction and tumor metastasis; mutation of these C3b residues to prevent PPIL1 binding attenuated inflammasome activation and reduced lung colonization in mice. Site-directed mutagenesis of C3b, co-immunoprecipitation, in vivo lung colonization assay, NLRP3 inflammasome readout Cell reports Medium 36476873
2025 NMR titration experiments showed that proline-rich PxxP motifs within the EWS low-complexity domain (EWSLCD) engage the catalytic face of PPIL1, forming low-affinity 'fuzzy' complexes. This interaction is absent when the RRM and RGG2 domains are included in the EWS construct, indicating that PxxP accessibility is context-dependent. PPIL1 is recruited into EWSLCD phase-separated condensates and alters their condensation properties at low salt concentrations. NMR titration, phase separation/droplet assay Biochemistry Medium 40668764
2025 PPIL1 knockdown in HCC cell lines suppressed proliferation, migration, and sphere-forming capacity, and reduced tumor growth in xenograft mice. Transcriptome analysis after PPIL1 knockdown identified DAAM2 as a downstream transcriptional target, linking PPIL1 to Wnt/β-catenin signaling activation in liver cancer stem cells. shRNA knockdown, xenograft mouse model, sphere formation assay, transcriptome analysis Cancer genomics & proteomics Medium 40883023

Source papers

Stage 0 corpus · 21 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2014 Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease. PLoS genetics 159 25033284
2004 Transcriptional coregulator SNW/SKIP: the concealed tie of dissimilar pathways. Cellular and molecular life sciences : CMLS 71 15052407
2020 Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron 48 33220177
2006 Solution structure of human peptidyl prolyl isomerase-like protein 1 and insights into its interaction with SKIP. The Journal of biological chemistry 37 16595688
2018 Structural and Functional Insights into Human Nuclear Cyclophilins. Biomolecules 35 30518120
2009 A large intrinsically disordered region in SKIP and its disorder-order transition induced by PPIL1 binding revealed by NMR. The Journal of biological chemistry 32 20007319
2006 Overexpression of peptidyl-prolyl isomerase-like 1 is associated with the growth of colon cancer cells. Clinical cancer research : an official journal of the American Association for Cancer Research 31 16397026
2022 Crosstalk between pro-survival sphingolipid metabolism and complement signaling induces inflammasome-mediated tumor metastasis. Cell reports 28 36476873
2010 The crystal structure of PPIL1 bound to cyclosporine A suggests a binding mode for a linear epitope of the SKIP protein. PloS one 23 20368803
2001 Cyclophilins of a novel subfamily interact with SNW/SKIP coregulator in Dictyostelium discoideum and Schizosaccharomyces pombe. Biochimica et biophysica acta 23 11690648
1996 Cloning, expression and chromosomal mapping of a novel cyclophilin-related gene (PPIL1) from human fetal brain. Cytogenetics and cell genetics 18 8978786
2015 The spliceosomal PRP19 complex of trypanosomes. Molecular microbiology 15 25524563
2024 Integrative transcriptome-proteome approach reveals key hypoxia-related features involved in the neuroprotective effects of Yang Xue oral liquid on Alzheimer's and Parkinson's disease. Frontiers in pharmacology 4 39045051
2025 The Spliceosomal Peptidyl Prolyl Isomerase Like 1 Interacts with the Low-Complexity Domain of the RNA Binding Protein EWS Modulating Its Phase Separation Behavior. Biochemistry 2 40668764
2025 PPIL1 Drives Hepatocellular Carcinoma Progression and Cancer Stem Cell Self-renewal Through DAAM2-mediated Wnt/β-Catenin Activation. Cancer genomics & proteomics 1 40883023
2024 [The diagnostic value of inflammation-related genes in bronchopulmonary dysplasia]. Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] 1 38955739
2023 Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses. American journal of medical genetics. Part A 1 37159429
2022 Nuclear localization of propiece IL-1α in HeLa cells. Journal of oral science 1 35236814
2021 Splicing Control of Pontocerebellar Development. Neuron 1 33476558
2026 Exploring potential biomarkers of diffuse large B-cell lymphoma through multi-dimensional data. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 0 41739400
2025 Obesity induced by a high-fat diet regulates the MYC‒PPIL1 network in the mediation of asthenozoospermia. Basic and clinical andrology 0 41073920

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