Affinage

PHF5A

PHD finger-like domain-containing protein 5A · UniProt Q7RTV0

Length
110 aa
Mass
12.4 kDa
Annotated
2026-06-10
83 papers in source corpus 23 papers cited in narrative 22 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

PHF5A is a highly conserved zinc-finger PHD-domain protein that functions as an essential component of the SF3b spliceosomal subcomplex, where together with SF3B1 it helps form the binding pocket that recognizes the intronic branch point adenosine during pre-mRNA splicing (PMID:28541300). Structural and resistance-mutation mapping place PHF5A-Y36 and adjacent SF3B1 residues at this pocket, the site at which splicing modulators (pladienolide, herboxidiene, spliceostatin) act, with modulator-resistance mutations clustering there (PMID:28541300); spliceostatin compounds engage the protein covalently at Cys26 of its ZnCys4 zinc finger [PMID:bio_10.1101_2025.09.17.676740]. Through this splicing activity PHF5A enables recognition of exons bearing unusual C-rich 3' splice sites in thousands of essential genes, a dependency that renders cancer cells selectively vulnerable to its loss while sparing untransformed cells (PMID:23651857, PMID:39212334). PHF5A stabilizes the SF3b complex and links it to histones, and controls alternative splicing of apoptotic and cell-cycle regulators including FASTK and the senescence-linked CDK2 transcript (PMID:29700004, PMID:34604215). Its splicing output is tuned by post-translational modifications: p300-dependent K29 acetylation strengthens U2 snRNP interactions and reshapes splicing under stress to stabilize KDM3A and drive carcinogenesis (PMID:31054974), while SIRT7-mediated K25 decrotonylation alters CDK2 splicing to accelerate fibroblast senescence (PMID:34604215). Beyond splicing, PHF5A acts as a bridging adaptor between ATP-dependent helicases (EP400, DDX1) and RS-domain splicing factors (U2AF1, SFRS5) (PMID:18758164), stabilizes the PAF1 transcriptional elongation complex to control RNA Pol II elongation at pluripotency loci (PMID:27749823), and supports NHEJ-mediated DNA repair by stabilizing the p400 histone chaperone complex to deposit H2AX and H2A.Z at switch regions during class switch recombination (PMID:33938017). A spliceosome-independent role at centrosomes is activated by Y36 phosphorylation via the TrkA-ERK1/2-ABL1 cascade, which promotes CEP250-Nek2A interaction and premature centrosome separation (PMID:36759599). Loss-of-function PHF5A variants produce a cell-type-specific transcriptional phenotype consistent with altered SF3B function rather than simple haploinsufficiency (PMID:37422718).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2002 Medium

    Establishing that the PHF5A ortholog is developmentally essential framed it as a core cellular factor rather than an accessory protein.

    Evidence Transgenic reporter and RNAi loss-of-function in C. elegans

    PMID:12359262

    Open questions at the time
    • Molecular function not defined in this study
    • Muscle-specific expression pattern not mechanistically linked to a pathway
  2. 2003 Medium

    Early work asked whether the protein had a nuclear/transcriptional role, finding it could bind a promoter and modulate ERα transcriptional activity.

    Evidence EMSA, reporter assays, and ERα co-transfection in HeLa cells (ortholog Ini)

    PMID:12810571

    Open questions at the time
    • Direct DNA-binding role superseded by later splicing-centric models
    • No structural basis for promoter binding
  3. 2008 High

    To define how PHF5A connects machineries, it was shown to bridge ATP-dependent helicases to RS-domain splicing factors, establishing an adaptor architecture.

    Evidence Yeast two/three-hybrid, domain-deletion mapping, Co-IP, and GFP localization to nuclear speckles

    PMID:18758164

    Open questions at the time
    • Indirect interactions not resolved structurally
    • Stoichiometry within the complex unknown
  4. 2013 High

    A genome-wide screen answered what splicing substrates depend on PHF5A, revealing recognition of C-rich 3' splice sites in essential genes and a cancer-selective vulnerability.

    Evidence Genome-wide RNAi screen, RNA-seq, siRNA in patient-derived GSCs, xenograft validation

    PMID:23651857

    Open questions at the time
    • Basis for cancer-cell selectivity not fully resolved
    • Mechanism of C-rich splice-site recognition not structurally defined
  5. 2016 High

    Work in ESCs extended PHF5A beyond splicing, showing it stabilizes the PAF1 elongation complex to control Pol II elongation at pluripotency loci.

    Evidence shRNA depletion, RNA Pol II ChIP-seq, reciprocal Co-IP, differentiation assays in ESCs and myoblasts

    PMID:27749823

    Open questions at the time
    • How splicing and elongation roles are coordinated unknown
    • Direct vs indirect PAF1C stabilization not dissected
  6. 2017 High

    Structural studies resolved where PHF5A sits in the spliceosome, placing it in the branch-point adenosine pocket and explaining splicing-modulator resistance mutations.

    Evidence Human PHF5A crystal structure, cryo-EM Bact spliceosome analysis, resistance-mutation mapping, RNA-seq

    PMID:28541300

    Open questions at the time
    • Catalytic contribution of PHF5A vs SF3B1 to branch-point recognition not separated
    • Effect of Y36C on basal splicing minimal but mechanism unexplained
  7. 2018 High

    PHF5A was shown to be required for SF3b stability and to link the complex to histones, coupling splicing of apoptotic genes to tumor phenotypes.

    Evidence In vivo CRISPR screen, Co-IP for histone interaction, RT-PCR splice isoform analysis, xenografts

    PMID:29700004

    Open questions at the time
    • Nature of the PHF5A-histone link not structurally defined
    • Breadth of apoptotic splicing targets beyond FASTK unknown
  8. 2019 High

    Identification of p300-dependent K29 acetylation answered how splicing output is dynamically tuned by metabolic and stress signals.

    Evidence MS site mapping, p300 KO/KD, Co-IP, RNA-seq, rescue experiments

    PMID:31054974

    Open questions at the time
    • Deacetylase for K29 not identified
    • Genome-wide scope of acetylation-driven splicing changes incompletely mapped
  9. 2020 Medium

    PHF5A was placed in a non-canonical PAF1-DDX3 sub-complex that binds the NANOG promoter, linking it to cancer stemness independent of canonical PAF1C function.

    Evidence Reciprocal Co-IP with MS, ChIP-seq, RNA-seq, CRISPR depletion, orthotopic xenografts in pancreatic cancer stem cells

    PMID:32781084

    Open questions at the time
    • Single lab; direct vs scaffold role at NANOG promoter not separated
    • Relationship to canonical splicing function unclear
  10. 2021 Medium

    Two studies expanded PHF5A regulation and function: SIRT7-mediated K25 decrotonylation tuning CDK2 splicing in senescence, and p400 stabilization driving H2A-variant deposition in NHEJ during class switch recombination.

    Evidence Crotonylome MS and SIRT7 manipulation with senescence assays; siRNA screen, ChIP, histone deposition and DSB-repair assays in B cells

    PMID:33938017 PMID:34604215

    Open questions at the time
    • Direct SIRT7-PHF5A enzymatic relationship validated in a single lab
    • How a splicing factor stabilizes a chromatin chaperone complex mechanistically unresolved
  11. 2023 Medium

    Multiple studies defined a spliceosome-independent centrosomal role (Y36 phosphorylation promoting CEP250-Nek2A and centrosome separation), additional complex partnerships (KMT2A/PHF14/HMG20A/RAI1), and a cell-type-specific LOF pathomechanism in disease.

    Evidence Phospho-site mapping and centrosome fractionation; Co-IP/MS for the KMT2A subcomplex; transcriptome sequencing and complex-formation assays in subject-derived fibroblasts

    PMID:36759599 PMID:37422718 PMID:37434235 PMID:37709746

    Open questions at the time
    • Centrosomal mechanism single-lab; structural basis of pY36 action unknown
    • Disease pathomechanism studied only in fibroblasts
  12. 2025 Medium

    Tissue-specific specificity factors (DLC1) were shown to direct SF3B1-PHF5A branch-site binding to particular pre-mRNAs, and simulations proposed the chemical basis of covalent spliceostatin engagement at Cys26.

    Evidence Avian NC splicing assays with pladienolide B; QM/MM MD simulations (preprint)

    PMID:40691464 PMID:bio_10.1101_2025.09.17.676740

    Open questions at the time
    • Cys26 covalent mechanism is computational only, no biochemical validation
    • Generality of context-specific cofactor recruitment beyond SOX9/SNAI2 unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How PHF5A's distinct activities — branch-point splicing, transcriptional elongation, DNA-repair chromatin deposition, and centrosomal regulation — are partitioned and coordinated within a cell remains unresolved.
  • No unified model integrating splicing vs non-splicing roles
  • PTM crosstalk (K25, K29, Y36) not jointly studied
  • No high-resolution structure of PHF5A in its non-spliceosomal complexes

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 3 GO:0003723 RNA binding 2 GO:0060090 molecular adaptor activity 1
Localization
GO:0005634 nucleus 2 GO:0005654 nucleoplasm 1 GO:0005815 microtubule organizing center 1
Pathway
R-HSA-8953854 Metabolism of RNA 4 R-HSA-74160 Gene expression (Transcription) 2 R-HSA-1640170 Cell Cycle 1 R-HSA-73894 DNA Repair 1
Partners
DDX1DDX3EP400KMT2APAF1SF3B1SFRS5U2AF1
Complex memberships
PAF1 complexSF3b spliceosomal subcomplexU2 snRNPp400 histone chaperone complex

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2017 PHF5A, as a component of the SF3b subcomplex, forms part of the branch point adenosine binding pocket together with SF3B1. Mutations in PHF5A-Y36, SF3B1-K1071, SF3B1-R1074, and SF3B1-V1078 confer resistance to splicing modulators (pladienolide, herboxidiene, spliceostatin), and cryo-EM analysis of the Bact spliceosome complex shows these resistance mutations cluster in a pocket surrounding the branch point adenosine, suggesting competitive inhibition. PHF5A-Y36C has minimal effect on basal splicing but inhibits the global action of splicing modulators. Resistance mutation mapping, RNA-seq, crystal structure of human PHF5A, cryo-EM spliceosome Bact complex analysis Nature communications High 28541300
2013 PHF5A facilitates recognition of exons with unusual C-rich 3' splice sites in thousands of essential genes. In glioblastoma stem cells (GSCs), PHF5A knockdown inhibits splicing of these genes, leading to cell cycle arrest and loss of viability selectively in cancer cells but not in untransformed neural stem cells, astrocytes, or fibroblasts. PHF5A interacts with the U2 snRNP complex and ATP-dependent helicases. Genome-wide RNAi screen, RNA-seq, siRNA knockdown in patient-derived GSCs, in vivo xenograft tumor formation assay, pharmacologic U2 snRNP inhibition Genes & development High 23651857
2019 PHF5A can be acetylated at lysine 29 (K29) in response to multiple cellular stresses (including nutrient starvation and reduced Acetyl-CoA), dependent on the acetyltransferase p300. PHF5A K29 acetylation strengthens interactions among U2 snRNP components and alters global pre-mRNA splicing patterns. Hyperacetylation of PHF5A induces alternative splicing that stabilizes KDM3A mRNA and promotes its protein expression, promoting stress resistance and colorectal carcinogenesis. Mass spectrometry identification of acetylation sites, p300 knockout/knockdown, Co-IP, RNA-seq, Western blot, functional rescue experiments Molecular cell High 31054974
2016 Phf5a stabilizes the Paf1 transcriptional elongation complex (PAF1C) and controls RNA polymerase II elongation on pluripotency loci in embryonic stem cells (ESCs). Depletion of Phf5a in ESCs causes hallmarks of differentiation. Phf5a also controls differentiation of adult myoblasts. shRNA-mediated depletion in mouse ESCs, ChIP-seq for RNA Pol II, Co-IP for PAF1C components, transcriptome analysis, myoblast differentiation assays Nature cell biology High 27749823
2008 PHF5A acts as a bridge protein between ATP-dependent helicases (EP400 and DDX1) and splicing factors with arginine-serine (RS)-rich domains (U2AF1 and SFRS5). The N-terminal part of PHF5A mediates interaction with EP400 and DDX1, while the C-terminal region mediates interaction with U2AF1 and SFRS5. EP400 and DDX1 interact with U2AF1 and SFRS5 only indirectly via PHF5A. PHF5A-GFP localizes predominantly to the nucleus and co-localizes with U2AF1 and SFRS5 in nuclear speckles. Yeast two-hybrid, yeast three-hybrid, domain deletion mapping, PHF5A-GFP fusion localization in NIH3T3 cells, co-immunoprecipitation in GC-4spc spermatocyte cells Cytogenetic and genome research High 18758164
2018 PHF5A is required for SF3b spliceosome stability and links the SF3b complex to histones. The PHF5A-SF3b complex modulates alternative splicing of apoptotic signaling genes; PHF5A ablation increases expression of a short truncated FASTK protein that facilitates Fas-mediated apoptosis. PHF5A loss suppresses breast cancer cell proliferation, migration, and tumor formation. In vivo CRISPR screen, siRNA/shRNA knockdown, RT-PCR for alternative splicing events, Western blot for SF3B components, Co-IP for histone interaction, cell proliferation/migration/apoptosis assays, xenograft tumor formation Cancer research High 29700004
2021 Phf5a/Sf3b14b regulates the DNA repair step (NHEJ) of class switch recombination (CSR) by stabilizing the p400 histone chaperone complex at immunoglobulin switch regions. This stabilization promotes deposition of H2A variants H2AX and H2A.Z that are critical for the early DNA damage response and NHEJ, respectively. Loss of Phf5a impairs AID-induced recombination but does not perturb DNA breaks or somatic hypermutation. siRNA-based loss-of-function screen, ChIP assay, histone deposition assays, I-SceI-induced DSB repair assay, CSR assay in B cells The EMBO journal High 33938017
2021 SIRT7 decrotonylates PHF5A at lysine 25 (K25). Decrotonylation of PHF5A K25 decreases CDK2 expression through retained-intron-induced abnormal alternative splicing, thereby accelerating fibroblast senescence. SIRT7 expression is increased in senescent fibroblasts and aged tissues. Mass spectrometry crotonylome profiling, SIRT7 knockdown/overexpression, Western blot for PHF5A modifications, RT-PCR for CDK2 splicing isoforms, senescence assays Frontiers in cell and developmental biology Medium 34604215
2020 In pancreatic cancer stem cells, PAF1 interacts with PHF5A and DDX3 to form a sub-complex that binds the promoter region of NANOG and regulates stemness genes. The PAF1-PHF5A interaction is independent of the canonical PAF1 complex function. Levels of PAF1-PHF5A co-localization are increased in human pancreatic tumor specimens. Co-immunoprecipitation, mass spectrometry, ChIP-seq, RNA-seq, CRISPR/Cas9 PAF1 depletion, tumor sphere formation assays, orthotopic xenograft model Gastroenterology Medium 32781084
2003 Ini (the rat/mouse ortholog of PHF5A) localizes to the nucleus of HeLa cells and binds to the proximal connexin43 (Cx43) promoter as shown by electrophoretic mobility shift assay (EMSA). Overexpression of Ini enhances estrogen-induced up-regulation of the cx43 gene in a dose-dependent manner by stimulating the AF-1 (but not AF-2) transcriptional activating function of estrogen receptor alpha (ERα). EMSA, transient transfection with ERα cDNA, reporter assays, antisense construct experiments, subcellular localization in HeLa cells Endocrinology Medium 12810571
2023 KMT2A (histone methyltransferase) physically associates with a PHF5A-PHF14-HMG20A-RAI1 protein subcomplex in pancreatic cancer stem cells and epigenetically regulates their self-renewal capacity, cell viability, and in vivo tumorigenicity. Targeting the complex with a KMT2A-WDR5 inhibitor attenuates these cancer stem cell properties. Co-immunoprecipitation, mass spectrometry, KMT2A-WDR5 inhibitor treatment, tumor sphere formation assays, in vivo tumorigenicity assays Nature communications Medium 37709746
2023 PHF5A phosphorylation at Y36 by the TrkA-ERK1/2-ABL1 kinase cascade promotes the interaction between CEP250 and Nek2A in a spliceosome-independent manner at centrosomes, leading to premature centrosome separation. PHF5A is enriched at centrosomes. pY36-PHF5A promotes microtubule remodeling and regulates cell proliferation and migration. This cascade is hyperactivated in medulloblastoma. Phosphorylation site mapping, centrosome fractionation/localization, Co-IP for CEP250-Nek2A interaction, kinase inhibitor experiments, cell proliferation/migration assays, medulloblastoma cell senescence assays Cell death & disease Medium 36759599
2023 PHF5A regulates alternative splicing of DOCK5 to generate a specific oncogenic DOCK5 variant in head and neck squamous cell carcinoma. PHF5A knockdown or overexpression correspondingly alters the level of the DOCK5 variant. PHF5A activates the p38 MAPK pathway, and p38 MAPK inhibition reverses the oncogenic effects of PHF5A on proliferation, migration, and invasion. qRT-PCR for DOCK5 splice variant, siRNA/overexpression experiments, Western blot for p38 MAPK pathway components, in vitro functional assays, in vivo xenograft model Biology direct Medium 37434235
2023 In glioblastoma, loss-of-function PHF5A variants cause altered SF3B complex function: transcriptome sequencing in subject-derived fibroblasts with PHF5A LOF variants revealed alternative promoter use and downregulation of genes involved in cell-cycle regulation. Feedback mechanisms in fibroblasts maintain normal levels of SF3B components (SF3B1-3, SF3B6), and SF3B complex formation was unaffected in 2 subject cell lines, suggesting cell-type-specific pathomechanism rather than simple haploinsufficiency. Subject-derived fibroblast studies, transcriptome sequencing (RNA-seq), Western blot for SF3B complex components, functional SF3B complex formation assay Genetics in medicine Medium 37422718
2023 In gastric cancer cells, PHF5A knockdown leads to decreased protein stability of FOS through SKP2 (E3 ubiquitin ligase)-mediated ubiquitination. PHF5A silencing promotes VEGFA ubiquitination by interacting with MDM2, thereby reducing VEGFA protein expression. ESCC cell viability and migration promoted by PHF5A are dependent on intact VEGFA and PI3K/AKT signaling. Co-immunoprecipitation for PHF5A-MDM2 interaction, ubiquitination assays, Western blot, siRNA knockdown, rescue experiments with VEGFA overexpression, in vivo xenograft Journal of translational medicine / Biology direct Low 36609277 38429756
2024 PHF5A knockdown in melanoma cells causes massive splicing defects in tumor-relevant genes and increases apoptosis via Fas- and unfolded protein response (UPR)-mediated apoptosis pathways, selectively in melanoma cells but not in fibroblasts. siRNA knockdown, RNA-seq for splicing changes, apoptosis assays, pathway inhibitor experiments Cell proliferation Medium 39212334
2002 The C. elegans ortholog of PHF5A (phf-5) is essential for morphogenetic development. phf-5 RNAi causes lethal phenotype in embryonic morphogenetic phase and in young larvae but not in adults. Expression is muscle-specific (pharynx, body wall muscles, anal muscles) during late development. Transgenic phf-5::yfp reporter, RNAi knockdown phenotype analysis in C. elegans Biochemical and biophysical research communications Medium 12359262
2025 Neural crest (NC)-specific DLC1 partners with the SF3B1-PHF5A splicing complex to determine avian trunk NC cell fate by regulating splicing of NC specifiers SOX9 and SNAI2 pre-mRNAs. Mechanistically, SF3B1-PHF5A binds intronic branch site (BS) sequences of multiple factors, while DLC1 interacts with a specific motif near the BS sequences of SOX9 and SNAI2, conferring functional specificity. DLC1 increases NC cell vulnerability to splicing modulator pladienolide B by reducing SF3B1-PHF5A binding capacity to shorter introns with weaker polypyrimidine tracts. Avian NC cell functional assays, RNA splicing analysis (RT-PCR, RNA-seq), protein interaction studies, pladienolide B treatment with splicing readout Nature communications Medium 40691464
2025 Spliceostatin family compounds covalently bind PHF5A at Cys26 of its ZnCys4 zinc finger, while preserving Zn2+ coordination. QM/MM simulations identify that distortion of the ZnCys4 coordination sphere weakens the Zn-Cys26 bond, enabling water-Cys26 exchange and generating a reactive nucleophilic thiolate. Covalent bond formation is accelerated by an Asp34-Lys29 proton relay that activates the epoxide leaving group of spliceostatins. Classical and QM/MM molecular dynamics simulations, free-energy calculations bioRxivpreprint Low bio_10.1101_2025.09.17.676740
2020 CHD4 interacts with PHF5A in non-small cell lung cancer cells, and knockdown of CHD4 decreases PHF5A protein levels and reduces activation of the RhoA/ROCK signaling pathway. This CHD4-PHF5A interaction is proposed to mediate promotion of NSCLC cell proliferation and migration. Western blot for protein levels, co-expression analysis, siRNA/overexpression functional assays, xenograft tumor model BMC cancer Low 32228507
2022 PHF5A is involved in maintaining cancer stem-like phenotype in non-small cell lung cancer (NSCLC); PHF5A knockdown in cancer stem-like cells (CSLCs) results in diminished stemness phenotypes and reduced HDAC8 expression. Inhibition of HDAC activity also affects stemness maintenance, suggesting PHF5A acts upstream of HDAC8 in this context. siRNA knockdown, Western blot, qRT-PCR, oncosphere-forming assay, HDAC inhibitor treatment Annals of clinical and laboratory science Low 35777798
2019 PHF5A knockdown inhibits migration and invasion of hepatocellular carcinoma (HCC) cells and downregulates NF-κB signaling activity. Blocking NF-κB signaling weakens the stimulatory effect of PHF5A on cell migration and invasion. Wound healing assay, Transwell invasion assay, luciferase reporter assay for NF-κB, Western blot, qPCR, siRNA knockdown BioMed research international Low 30766880

Source papers

Stage 0 corpus · 83 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2017 SMARCB1 (INI-1)-deficient Sinonasal Carcinoma: A Series of 39 Cases Expanding the Morphologic and Clinicopathologic Spectrum of a Recently Described Entity. The American journal of surgical pathology 188 28291122
2014 SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract. The American journal of surgical pathology 153 25007146
2017 Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex. Nature communications 118 28541300
2013 Genome-wide RNAi screens in human brain tumor isolates reveal a novel viability requirement for PHF5A. Genes & development 106 23651857
2016 Genome-wide identification and characterisation of human DNA replication origins by initiation site sequencing (ini-seq). Nucleic acids research 92 27587586
2019 Acetylation of PHF5A Modulates Stress Responses and Colorectal Carcinogenesis through Alternative Splicing-Mediated Upregulation of KDM3A. Molecular cell 83 31054974
2010 Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6. The American journal of surgical pathology 79 20118769
2018 PHF5A Epigenetically Inhibits Apoptosis to Promote Breast Cancer Progression. Cancer research 69 29700004
2015 Integrase inhibitor (INI) genotypic resistance in treatment-naive and raltegravir-experienced patients infected with diverse HIV-1 clades. The Journal of antimicrobial chemotherapy 68 26311843
2016 Regulation of transcriptional elongation in pluripotency and cell differentiation by the PHD-finger protein Phf5a. Nature cell biology 60 27749823
2020 RNA Polymerase II-Associated Factor 1 Regulates Stem Cell Features of Pancreatic Cancer Cells, Independently of the PAF1 Complex, via Interactions With PHF5A and DDX3. Gastroenterology 59 32781084
2012 p63, CK7, PAX8 and INI-1: an optimal immunohistochemical panel to distinguish poorly differentiated urothelial cell carcinoma from high-grade tumours of the renal collecting system. Histopathology 57 22260386
2019 SMARCB1 (INI-1)-Deficient Adenocarcinoma of the Sinonasal Tract: A Potentially Under-Recognized form of Sinonasal Adenocarcinoma with Occasional Yolk Sac Tumor-Like Features. Head and neck pathology 51 31468350
2021 SIRT7-Induced PHF5A Decrotonylation Regulates Aging Progress Through Alternative Splicing-Mediated Downregulation of CDK2. Frontiers in cell and developmental biology 39 34604215
2011 Immunohistochemical analysis of SMARCB1/INI-1 expression in collecting duct carcinoma. Urology 38 21705046
2020 CHD4 mediates proliferation and migration of non-small cell lung cancer via the RhoA/ROCK pathway by regulating PHF5A. BMC cancer 37 32228507
2003 Ini, a small nuclear protein that enhances the response of the connexin43 gene to estrogen. Endocrinology 27 12810571
2011 Intra-articular epithelioid sarcoma showing mixed classic and proximal-type features: report of 2 cases, with immunohistochemical and molecular cytogenetic INI-1 study. The American journal of surgical pathology 22 21566521
2008 PHF5A represents a bridge protein between splicing proteins and ATP-dependent helicases and is differentially expressed during mouse spermatogenesis. Cytogenetic and genome research 22 18758164
2012 Specificity and sensitivity of INI-1 labeling in epithelioid sarcoma. Loss of INI1 expression as a frequent immunohistochemical event in synovial sarcoma. Polish journal of pathology : official journal of the Polish Society of Pathologists 21 23161234
2002 The Caenorhabditis elegans ortholog of human PHF5a shows a muscle-specific expression domain and is essential for C. elegans morphogenetic development. Biochemical and biophysical research communications 21 12359262
2021 Phf5a regulates DNA repair in class switch recombination via p400 and histone H2A variant deposition. The EMBO journal 20 33938017
2022 Vulvar Yolk Sac Tumors Are Somatically Derived SMARCB1 (INI-1)-Deficient Neoplasms. The American journal of surgical pathology 19 34265804
2021 Case Report: SMARCB1 (INI-1)-Deficient Carcinoma of the Nasal Cavity with Pure Yolk Sac Tumor Differentiation and Elevated Serum AFP Levels. OncoTargets and therapy 19 33824593
2019 Knockdown of PHF5A Inhibits Migration and Invasion of HCC Cells via Downregulating NF-κB Signaling. BioMed research international 19 30766880
2016 Cytopathologic characteristics of SMARCB1 (INI-1) deficient sinonasal carcinoma: A potential diagnostic pitfall. Diagnostic cytopathology 19 27177850
2020 INI-1 (SMARCB1)-Deficient Undifferentiated Sinonasal Carcinoma: Novel Paradigm of Molecular Testing in the Diagnosis and Management of Sinonasal Malignancies. The oncologist 18 32337786
2013 Expression patterns of Phf5a/PHF5A and Gja1/GJA1 in rat and human endometrial cancer. Cancer cell international 17 23675859
2018 A central-acting connexin inhibitor, INI-0602, prevents high-fat diet-induced feeding pattern disturbances and obesity in mice. Molecular brain 15 29793524
2018 Cytopathologic features of SMARCB1 (INI-1)-deficient sinonasal carcinoma. Cancer cytopathology 15 29797680
2019 The gap junction inhibitor INI-0602 attenuates mechanical allodynia and depression-like behaviors induced by spared nerve injury in rats. Neuroreport 13 30741784
2023 KMT2A associates with PHF5A-PHF14-HMG20A-RAI1 subcomplex in pancreatic cancer stem cells and epigenetically regulates their characteristics. Nature communications 12 37709746
2022 PHF5A Contributes to the Maintenance of the Cancer Stem-like Phenotype in Non-Small Cell Lung Cancer by Regulating Histone Deacetylase 8. Annals of clinical and laboratory science 11 35777798
2015 Beware of immunohistochemistry--report of a cytokeratin-, desmin- and INI-1-negative pelvic desmoplastic small round cell tumor in a 51 year old woman. International journal of clinical and experimental pathology 11 25755805
2014 Protective effect of INI-0602, a gap junction inhibitor, on dopaminergic neurodegeneration of mice with unilateral 6-hydroxydopamine injection. Journal of neural transmission (Vienna, Austria : 1996) 11 24744047
2023 PHF5A facilitates the development and progression of gastric cancer through SKP2-mediated stabilization of FOS. Journal of translational medicine 10 36609277
2019 SMARCB1 (INI-1) and NUT immunoexpression in a large series of head and neck carcinomas in a Brazilian reference center. Head & neck 9 31729110
2019 Metastatic SMARCB1 (INI-1)-Deficient Sinonasal Carcinoma Diagnosed by Endobronchial Ultrasound-Guided Fine-Needle Aspiration (EBUS-FNA): A Potential Diagnostic Pitfall and Review of the Literature. Acta cytologica 8 31132763
2023 Immunotherapy in SMARCB1 (INI-1)-deficient sinonasal carcinoma: Two case reports. World journal of clinical cases 7 38073679
2022 A Subset of SMARCB1 (INI-1)-deficient vulvar neoplasms express germ cell markers. Histopathology 7 35758187
2017 Comprehensive Genomic Sequencing of Urothelial Tumors Identifies Rare SMARCB1 (INI-1)-Deficient Carcinomas of the Urinary System. Clinical genitourinary cancer 7 28974397
2016 Risk factors associated with Cryptosporidia, Eimeria, and diarrhea in smallholder dairy farms in Mukurwe-ini Sub-County, Nyeri County, Kenya. Veterinary world 7 27651667
2015 Atypical ossifying fibromyxoid tumor unusually located in the mediastinum: report of a case showing mosaic loss of INI-1 expression. International journal of clinical and experimental pathology 6 25973116
2023 De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias. Genetics in medicine : official journal of the American College of Medical Genetics 5 37422718
2023 PHF5A regulates the expression of the DOCK5 variant to promote HNSCC progression through p38 MAPK activation. Biology direct 5 37434235
2013 Immunoreactivity for Ca 125 and INI 1 loss of expression are useful markers in the diagnosis of vulvar proximal-type epithelioid sarcomas: report of two cases. European journal of gynaecological oncology 5 24475586
2024 Splicing control by PHF5A is crucial for melanoma cell survival. Cell proliferation 4 39212334
2023 Tolerability of ifosfamide-containing regimen in patients with high-risk renal and INI-1-deficient tumors. Pediatric blood & cancer 4 37218455
2023 Subependymal Giant Cell Astrocytoma Non-Associated With Tuberous Sclerosis Complex and Expression of OCT-4 and INI-1: A Case Report. Cureus 4 37378241
2021 tRNAIni CAT inhibits proliferation and promotes apoptosis of laryngeal squamous cell carcinoma cells. Journal of clinical laboratory analysis 4 34048096
2014 Use of dolutegravir in two INI-experienced patients with multiclass resistance resulted in excellent virological and immunological responses. Journal of the International AIDS Society 4 25397500
2025 The TLR7/8 agonist INI-4001 enhances the immunogenicity of a Powassan virus-like-particle vaccine. NPJ vaccines 3 40670406
2025 Determination of trunk neural crest cell fate and susceptibility to splicing perturbation by the DLC1-SF3B1-PHF5A splicing complex. Nature communications 3 40691464
2024 PHF5A promotes esophageal squamous cell carcinoma progression via stabilizing VEGFA. Biology direct 3 38429756
2024 Intranasal administration of a synthetic TLR4 agonist INI-2004 significantly reduces allergy symptoms following therapeutic administration in a murine model of allergic sensitization. Frontiers in immunology 3 39108263
2024 Efficacy and Tollerability of INI-Based 2-Drug Regimen in Virosuppressed Persons Living with HIV: A Systematic Review and Meta-Analysis. Infection & chemotherapy 3 39370125
2023 PHF5A as a new OncoTarget and therapeutic prospects. Heliyon 3 37483794
2020 A Nonchordomatous-looking Chordoma: When INI-1 and Radiology Came to the Rescue!!! Journal of pediatric hematology/oncology 3 32011562
2015 Cystic synovial sarcoma of the pleura mimicking a cystic thymoma: a case report illustrating the role of decreased INI-1 expression in differential diagnosis. International journal of clinical and experimental pathology 3 26045850
2023 The phosphorylation of PHF5A by TrkA-ERK1/2-ABL1 cascade regulates centrosome separation. Cell death & disease 2 36759599
2023 [PHF5A Promotes Proliferation and Migration of Non-Small Cell Lung Cancer 
by Regulating of PI3K/AKT Pathway]. Zhongguo fei ai za zhi = Chinese journal of lung cancer 2 36792075
2023 Genome-wide temporal landscaping of DNA methylation in pregnant women delivering at term: a GARBH-InI study. Epigenomics 2 37345372
2023 Underreporting of SMARCB1 alteration by clinical sequencing: Integrative patho-genomic analysis captured SMARCB1/INI-1 deficiency in a vulvar yolk sac tumor. Gynecologic oncology reports 2 37876879
2022 Reappraisal of SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1/INI-1 deficient tumor: Report of two cases. Journal of cancer research and therapeutics 2 35900556
2000 Resonant Coherent Anti-Stokes Raman Scattering Applied to Vapor Phase InI. Journal of molecular spectroscopy 2 10753612
2025 SMARCB1 (INI-1)-Deficient Myoepithelioma-Like Tumor in the Perineal Region of a Male Patient: A Case Report. International journal of surgical pathology 1 41066470
2024 SMARCB1 (INI-1) deficient sinonasal carcinoma of the right maxillary sinus - A rare entity. International journal of surgery case reports 1 39106742
2024 The TLR7/8 agonist INI-4001 enhances the immunogenicity of a Powassan virus-like-particle vaccine. bioRxiv : the preprint server for biology 1 39677812
2022 Research progress and therapeutic prospect of PHF5A acting as a new target for malignant tumors. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 1 36581580
2017 INI Expressing Epithelioid Sarcoma with Osteoclastic Giant Cells in a Child: A Case Report with Summary of Prior Published Cases. Fetal and pediatric pathology 1 28541826
2003 INI-1, a partner gene of ALL-1, is highly conserved in human acute leukemia. Oncology reports 1 12684622
2026 Renal Cell Carcinoma With Concurrent Loss of SMARCB1/INI-1 and Fumarate Hydratase By Immunohistochemistry: A Case Report With Review of the Literature. Applied immunohistochemistry & molecular morphology : AIMM 0 42084236
2026 INI-1 Loss with brachyury positivity unmasking a cervical poorly differentiated chordoma initially diagnosed as epithelioid sarcoma: a case report. Frontiers in surgery 0 42254918
2025 Adaptive Treatment Strategy: Adjuvant Chemoradiotherapy for a Complex SMARCB1 (INI-1)-Deficient Sinonasal Carcinoma With Intracranial Extension. Cureus 0 39925590
2025 Metastatic INI-1-deficient undifferentiated lung cancer with EGFR 19del mutation identified in pleural effusion: a case report and review of the literature. Frontiers in oncology 0 40291911
2025 Encapsulation of the lipidated TLR7/8 agonist INI-4001 into ionic liposomes impacts H7 influenza antigen-specific immune responses. Drug delivery and translational research 0 40660065
2025 SMARCB1 (INI-1) deficient vulvar neoplasms: report of 4 cases with review of literature. Diagnostic pathology 0 41291778
2025 Cytopathologic Features of Metastatic Malignant Mesothelioma With SMARCB1 (INI-1) Deficient Diagnosed by Ultrasound-Guided Fine-Needle Aspiration: A Case Report. Diagnostic cytopathology 0 41457811
2023 SMARCB1 (INI-1) - Deficient sinonasal carcinoma: Report of two cases. Indian journal of pathology & microbiology 0 37077082
2022 [Analysis of the diagnosis and treatment of patients with SMARCB1 (INI-1)-deficient sinonasal carcinoma]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 0 35866278
2022 A Novel Successful Case of Nasal and Sinus Yolk Sac Tumor With SMARCB1 (INI-1) Deficiency: A Case Report. Cureus 0 36514645
2021 Integrase Interactor 1 (INI-1) Deficient Renal Cell Carcinoma. Cureus 0 33680622
2010 Techniques for studying inverse agonist activity of antidepressants at recombinant nonedited 5-HT(₂C-INI) receptor and native neuronal 5-HT(₂C) receptors. Methods in enzymology 0 21050911

Missed literature

Know a paper Affinage missed for PHF5A? Flag it for the maintainers and the community.

No submissions yet.