Affinage

PHRF1

PHD and RING finger domain-containing protein 1 · UniProt Q9P1Y6

Length
1649 aa
Mass
178.7 kDa
Annotated
2026-06-10
15 papers in source corpus 10 papers cited in narrative 10 extracted findings
Cross-family judge faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PHRF1 is a chromatin-associated PHD- and RING-finger E3 ubiquitin ligase that couples histone-mark recognition to ubiquitin-dependent control of TGF-β signaling, the DNA damage and replication-stress response, and tumor cell invasion (PMID:23911286, PMID:25855964, PMID:40052822). As a tumor suppressor in the TGF-β axis, PHRF1 ubiquitinates TGIF at K130 to drive its proteasomal degradation, releasing cytoplasmic PML to coordinate SARA-dependent Smad2 activation and cytostatic signaling; PML-RARα subverts this network by competing for TGIF binding, blocking degradation and promoting acute promyelocytic leukemia, and enforced PHRF1 activity restores TGF-β signaling and suppresses APL (PMID:23911286, PMID:25683711). PHRF1 is recruited to DNA lesions through its PHD finger, which binds di-/trimethylated H3K36 and the N-terminal region of histone H3, and through its SDTE motif, which binds NBS1; this engagement supports non-homologous end-joining, and a cancer-associated P221L PHD mutation that abolishes H3 binding fails to rescue the DNA damage response (PMID:25855964, PMID:40671529). During replication stress PHRF1 mono-ubiquitinates TopBP1 at K73 to enhance the TopBP1-ATR interaction and ATR-Chk1 activation, with conditional Phrf1 loss causing early embryonic lethality and impaired ATR-Chk1 signaling (PMID:40052822). PHRF1 additionally ubiquitinates PARP1 and p53 for proteasomal degradation, and through its SRI domain associates with the phosphorylated RNA Pol II CTD to regulate ZEB1 and SOX4 transcription and drive cancer cell migration and invasion (PMID:25855964, PMID:41215711, PMID:32730336, PMID:38030167).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 2013 High

    Established PHRF1's first defined molecular activity—that it is an E3 ligase whose substrate TGIF links it to TGF-β cytostatic signaling—answering what biological pathway PHRF1 controls.

    Evidence Ubiquitination assay, K130 site-directed mutagenesis, cPML redistribution and tumor xenograft reconstitution

    PMID:23911286

    Open questions at the time
    • Did not define how PHRF1 is regulated or recruited
    • E2 enzyme partner not identified
  2. 2015 High

    Defined the chromatin-recruitment logic of PHRF1—PHD-domain reading of H3K36me2/3 and SDTE-mediated NBS1 binding—linking it to DNA repair via NHEJ, and identified PARP1 as an additional ubiquitination substrate.

    Evidence Peptide pull-down, SDTE mutagenesis, NHEJ reporter assay and PARP1 ubiquitination assay in H1299 cells

    PMID:25855964

    Open questions at the time
    • Did not connect repair role to a specific ubiquitination substrate at the lesion
    • Functional consequence of PARP1 degradation not detailed
  3. 2015 High

    Showed the TGIF/PHRF1 tumor-suppressor axis is a target of oncogenic disruption, with PML-RARα competing for TGIF to drive APL—establishing disease relevance and a rescue model.

    Evidence Competition Co-IP, TGIF ubiquitination and TGF-β reporter assays, mouse APL model with PHRF1 reconstitution

    PMID:25683711

    Open questions at the time
    • Structural basis of the TGIF-binding competition not resolved
    • Generalizability beyond APL not tested
  4. 2016 Medium

    Connected PHRF1 expression to a concrete cell-cycle/tumor-suppressor phenotype, showing overexpression reduces TGIF and c-Myc, raises p21, and arrests cells in G1.

    Evidence Overexpression in H1299 cells, cell-cycle flow cytometry, soft agar and xenograft assays

    PMID:27608840

    Open questions at the time
    • Did not dissect direct vs indirect effects on c-Myc and p21
    • Single cell line
  5. 2020 Medium

    Revealed a transcriptional, ligase-independent arm of PHRF1—SRI-domain association with the phosphorylated Pol II CTD—driving ZEB1 expression and lung cancer invasion.

    Evidence Reciprocal Co-IP, ChIP at the ZEB1 TSS, SRI deletion mutagenesis and transwell invasion assays

    PMID:32730336

    Open questions at the time
    • Single lab
    • Direct vs indirect transcriptional control not separated from ligase function
  6. 2023 Medium

    Extended the SRI-dependent invasion role to colorectal cancer through SOX4 rather than ZEB1, indicating context-specific transcriptional targets.

    Evidence CRISPR PHRF1 knockout, SRI deletion, SOX4 rescue and transwell invasion in HCT116-p53-/- cells

    PMID:38030167

    Open questions at the time
    • Mechanism of target selection (SOX4 vs ZEB1) unexplained
    • Single lab
  7. 2023 Medium

    Tested whether PHRF1 contributes to antibody class switching, finding it promotes IgA switching and PARP1/NELF levels in a B-cell line but with a discordant negative result in primary B cells.

    Evidence CRISPR knockout, shRNA, flow cytometry for IgA, PARP1 rescue and CD19-Cre conditional mice

    PMID:37540725

    Open questions at the time
    • Cell-line vs primary B-cell discordance unresolved
    • Mechanistic link between PHRF1, PARP1/NELF and CSR not defined
  8. 2025 High

    Defined PHRF1's role in the replication-stress response by identifying TopBP1 K73 mono-ubiquitination as the event that enhances TopBP1-ATR interaction and ATR-Chk1 activation, with mouse KO confirming essentiality.

    Evidence In vitro ubiquitination with K73 mutagenesis, Co-IP, ATR/Chk1 activation assays and conditional mouse knockout

    PMID:40052822

    Open questions at the time
    • E2 partner and regulation of mono- vs poly-ubiquitination not defined
    • Relationship to NHEJ role not integrated
  9. 2025 High

    Demonstrated that PHD-finger binding to the histone H3 N-terminus is functionally required for the DNA damage response, using a cancer P221L mutation that abolishes binding and rescue.

    Evidence Biochemical H3 binding, P221L mutagenesis, DDR rescue in knockout cells, RNA-seq and proteomics

    PMID:40671529

    Open questions at the time
    • Splicing/transcription regulatory mechanism not mechanistically resolved
    • Relative contribution of H3 vs H3K36me binding not separated
  10. 2025 Medium

    Identified p53 as a PHRF1 ubiquitination substrate operating when MDM2 is impaired, placing PHRF1 in a cisplatin-response circuit downstream of KDM4A/XPC in bladder cancer.

    Evidence p53 ubiquitination assay, KDM4A inhibition, XPC knockdown and mouse xenograft model

    PMID:41215711

    Open questions at the time
    • Direct vs indirect p53 ubiquitination not fully resolved
    • Single lab, limited mechanistic detail

Open questions

Synthesis pass · forward-looking unresolved questions
  • How PHRF1's distinct activities—substrate ubiquitination (TGIF, TopBP1, PARP1, p53), chromatin reading via the PHD finger, and SRI-dependent transcriptional control—are coordinated and selected in a given cellular context remains unresolved.
  • No unifying model for substrate/target selection across pathways
  • E2 partners unidentified
  • No structural model of the multidomain protein on chromatin

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016874 ligase activity 4 GO:0140096 catalytic activity, acting on a protein 4 GO:0042393 histone binding 2 GO:0140110 transcription regulator activity 2
Localization
GO:0005634 nucleus 3 GO:0000228 nuclear chromosome 2
Pathway
R-HSA-392499 Metabolism of proteins 4 R-HSA-162582 Signal Transduction 2 R-HSA-73894 DNA Repair 2 R-HSA-74160 Gene expression (Transcription) 2 R-HSA-8953897 Cellular responses to stimuli 1

Evidence

Reading pass · 10 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2013 PHRF1 functions as an E3 ubiquitin ligase that ubiquitinates TGIF (TG-interacting factor) at lysine 130, driving its proteasomal degradation. This TGIF degradation releases cPML to redistribute into the cytoplasm, where cPML associates with SARA and coordinates Smad2 phosphorylation/activation by the TGF-β receptor, thereby promoting TGF-β cytostatic signaling. Ubiquitination assay, immunoprecipitation, site-directed mutagenesis (K130 of TGIF), cell fractionation, tumor xenograft reconstitution Cell reports High 23911286
2015 PHRF1 localizes rapidly to DNA damage lesions upon genotoxic insults. Its PHD domain binds constitutively to di- and trimethylated histone H3 lysine 36 (H3K36me2/me3). The SDTE motif (S915DT917E) is required for interaction with NBS1. Both the PHD domain and SDTE motif are required for PHRF1's ability to promote non-homologous end-joining (NHEJ). PHRF1 also mediates PARP1 polyubiquitination leading to its proteasomal degradation. Immunoprecipitation, peptide pull-down assay, plasmid-based NHEJ reporter assay, site-directed mutagenesis (SDTEADAE), overexpression/ablation in H1299 reporter cells, live-cell localization after DNA damage Cell death & disease High 25855964
2015 PML-RARα disrupts the PHRF1 tumor suppressor network by competing with PHRF1 for binding to TGIF, thereby blocking PHRF1-mediated TGIF ubiquitination and degradation. This results in cPML sequestration and inactivation, suppressing TGF-β cytostatic signaling and promoting acute promyelocytic leukemia (APL). Enforcing PHRF1 activity restores TGF-β signaling in human blasts and suppresses APL formation in a mouse model. Co-immunoprecipitation (competition binding), TGIF ubiquitination assay, TGF-β reporter assay, mouse APL model with PHRF1 reconstitution Cell reports High 25683711
2020 PHRF1 promotes lung cancer cell migration and invasion by modulating ZEB1 transcription. PHRF1 associates with the phosphorylated C-terminal repeat domain (CTD) of Rpb1 (large subunit of RNA Pol II) via its C-terminal SRI domain. Chromatin immunoprecipitation showed PHRF1 binds the proximal region adjacent to the ZEB1 transcription start site. SRI domain deletion abolishes both Rpb1 association and ZEB1 upregulation. Co-immunoprecipitation, chromatin immunoprecipitation (ChIP), SRI domain deletion mutagenesis, transwell invasion/migration assay PloS one Medium 32730336
2023 In colorectal cancer HCT116-p53-/- cells, PHRF1 promotes invasion via its C-terminal SRI domain by modulating SOX4 expression. PHRF1 knockout reduces SOX4 levels and impairs invasion; reintroduction of SOX4 partially restores invasive capability. ZEB1 expression was not affected (negative finding for ZEB1 in this context). CRISPR-Cas9 PHRF1 knockout, SRI domain deletion, transwell invasion assay, SOX4 rescue experiment, expression profiling Anticancer research Medium 38030167
2023 PHRF1 promotes IgA class switch recombination in CH12F3-2A B cells. PHRF1 knockout reduces IgA production and decreases levels of PARP1, NELF-A, and NELF-D. Reintroduction of PARP1 partially restores IgA switching in PHRF1 knockout cells. However, IgA and other Ig class switches were not significantly decreased in PHRF1-deficient primary splenic B cells from CD19-Cre mice (negative finding in primary cells). CRISPR-Cas9 knockout, shRNA silencing, flow cytometry for IgA, PARP1 rescue, CD19-Cre conditional knockout mice PloS one Medium 37540725
2025 PHRF1 mono-ubiquitinates TopBP1 at lysine 73, which enhances the TopBP1-ATR interaction and promotes ATR activation during replication stress. PHRF1 is recruited to DNA lesions in a manner dependent on its PHD domain and histone methylation. PHRF1 depletion disrupts ATR activation and sensitizes cells to replication stress agents. Conditional knockout of Phrf1 in mice causes early lethality with impaired ATR-Chk1 axis signaling. Co-immunoprecipitation, in vitro ubiquitination assay, site-directed mutagenesis (K73 of TopBP1), ATR/Chk1 activation assays, conditional mouse knockout, replication stress sensitivity assays Nucleic acids research High 40052822
2025 The PHD finger of PHRF1 robustly binds the N-terminal region of histone H3. A cancer-associated P221L mutation in the PHD finger abolishes histone H3 interaction and fails to rescue defective DNA damage response (DDR) in PHRF1 knockout cells, demonstrating that H3 binding by the PHD finger is required for proper DDR. PHRF1 also regulates transcription and RNA splicing as shown by RNA-seq and proteomics. Biochemical binding assays, site-directed mutagenesis (P221L), PHRF1 knockout cells, DDR functional rescue assay, RNA-seq, proteomics Nucleic acids research High 40671529
2025 PHRF1 acts as an E3 ubiquitin ligase for p53, targeting it for ubiquitin-proteasome-mediated degradation. In XPC-deficient bladder cancer cells, KDM4A overactivation suppresses PHRF1 expression, leading to nuclear p53 accumulation and autophagy induction in response to cisplatin. Under cisplatin-induced DNA damage where MDM2 function is impaired, PHRF1 retains its E3 ligase activity toward p53. Western blot (p53 accumulation), ubiquitination assay, KDM4A inhibitor treatment, mouse xenograft model, XPC knockdown/knockout Advanced science Medium 41215711
2016 Overexpression of PHRF1 in H1299 non-small cell lung cancer cells inhibits proliferation and tumorigenicity, arrests cell cycle in G1 phase, decreases TGIF and c-Myc protein levels, and increases p21 protein levels, consistent with its role in TGF-β cytostatic signaling. Overexpression in H1299 cells, flow cytometry cell cycle analysis, soft agar assay, tumor xenograft, Western blot Oncotarget Medium 27608840

Source papers

Stage 0 corpus · 15 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2008 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nature genetics 1075 18204446
2010 Genetic variation at the IRF7/PHRF1 locus is associated with autoantibody profile and serum interferon-alpha activity in lupus patients. Arthritis and rheumatism 125 20112359
2015 PHRF1 promotes genome integrity by modulating non-homologous end-joining. Cell death & disease 33 25855964
2013 Identification of PHRF1 as a tumor suppressor that promotes the TGF-β cytostatic program through selective release of TGIF-driven PML inactivation. Cell reports 31 23911286
2010 Association of genetic variations in the STAT4 and IRF7/KIAA1542 regions with systemic lupus erythematosus in a Northern Han Chinese population. Human immunology 28 21167895
2015 Disruption of the PHRF1 Tumor Suppressor Network by PML-RARα Drives Acute Promyelocytic Leukemia Pathogenesis. Cell reports 21 25683711
2016 Overexpression of PHRF1 attenuates the proliferation and tumorigenicity of non-small cell lung cancer cells. Oncotarget 11 27608840
2020 PHRF1 promotes migration and invasion by modulating ZEB1 expression. PloS one 5 32730336
2024 Research Note: Chicken breast muscle satellite cell function: effect of expression of CNN1 and PHRF1. Poultry science 4 38669818
2025 XPC Deficiency Activate Cisplatin-Mediated Autophagy in Bladder Cancer by Limiting Novel PHRF1-Mediated Ubiquitination of the p53 Protein. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 3 41215711
2023 PHRF1 Promotes Cell Invasion by Modulating SOX4 Expression in Colorectal Cancer HCT116-p53-/- Cells. Anticancer research 3 38030167
2025 Histone H3 N-terminal recognition by the PHD finger of PHRF1 is required for proper DNA damage response. Nucleic acids research 2 40671529
2023 PHRF1 promotes the class switch recombination of IgA in CH12F3-2A cells. PloS one 2 37540725
2025 Mono-ubiquitination of TopBP1 by PHRF1 enhances ATR activation and genomic stability. Nucleic acids research 1 40052822
2024 Histone H3 N-terminal recognition by the PHD finger of PHRF1 is required for proper DNA damage response. bioRxiv : the preprint server for biology 0 39605374

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