Affinage

PHF5A

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

Length
110 aa
Mass
12.4 kDa
Annotated
2026-04-28
81 papers in source corpus 18 papers cited in narrative 18 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PHF5A is a highly conserved PHD-finger protein that functions as a core subunit of the SF3b subcomplex of U2 snRNP, where it directly contacts the branch point adenosine pocket together with SF3B1 to regulate constitutive and alternative pre-mRNA splicing (PMID:28541300, PMID:23651857). PHF5A is subject to post-translational modifications—p300-mediated acetylation at K29 strengthens U2 snRNP interactions and modulates stress-responsive splicing (PMID:31054974), SIRT7-mediated decrotonylation at K25 alters CDK2 splicing to promote senescence (PMID:34604215), and TrkA-ERK1/2-ABL1-mediated phosphorylation at Y36 drives a spliceosome-independent centrosomal function by promoting CEP250–Nek2A interaction and premature centrosome separation (PMID:36759599). Beyond splicing, PHF5A stabilizes the Paf1 transcriptional elongation complex at pluripotency loci in embryonic stem cells (PMID:27749823) and recruits the p400 histone chaperone to immunoglobulin switch regions to deposit H2A.Z and γH2AX for NHEJ-dependent DNA double-strand break repair during class switch recombination (PMID:33938017). De novo heterozygous PHF5A loss-of-function variants cause a developmental syndrome featuring craniofacial abnormalities, developmental delay, and hypospadias (PMID:37422718).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2002 Medium

    The earliest functional data established that a PHF5A ortholog is essential for embryonic morphogenesis, indicating a fundamental developmental role before any molecular mechanism was known.

    Evidence C. elegans phf-5::yfp reporter and RNAi in embryos showing muscle-specific expression and lethality upon knockdown

    PMID:12359262

    Open questions at the time
    • Mechanism of action in muscle development unknown
    • No link to splicing or chromatin at this stage
  2. 2003 Medium

    PHF5A was shown to function as a nuclear transcriptional coactivator, establishing its role in gene regulation via direct promoter binding and estrogen receptor AF-1 coactivation.

    Evidence EMSA on cx43 promoter and reporter assays in HeLa cells

    PMID:12810571

    Open questions at the time
    • Coactivator function not connected to splicing machinery
    • Single promoter target tested
    • No structural insight into DNA-binding mode
  3. 2008 High

    PHF5A was identified as a molecular bridge linking the chromatin remodeler EP400/DDX1 to splicing factors U2AF1/SFRS5, placing it at the intersection of chromatin and splicing for the first time.

    Evidence Yeast two-hybrid, three-hybrid, Co-IP, and nuclear speckle colocalization in NIH3T3 cells

    PMID:18758164

    Open questions at the time
    • Functional consequence of bridging not tested
    • Endogenous complex stoichiometry unresolved
  4. 2013 High

    PHF5A was demonstrated to be essential for U2 snRNP-dependent recognition of C-rich 3′ splice sites in thousands of essential genes, establishing it as a critical splicing factor with cancer-specific vulnerability in glioblastoma stem cells.

    Evidence Genome-wide RNAi screen, RNA-seq, pharmacologic U2 snRNP inhibition, in vivo xenograft in GSCs vs. normal cells

    PMID:23651857

    Open questions at the time
    • Structural basis for C-rich splice site preference unknown
    • Whether this selectivity is intrinsic to PHF5A or an emergent SF3b property unclear
  5. 2016 High

    PHF5A was shown to have a splicing-independent transcriptional role: stabilizing the Paf1 complex and controlling RNA Pol II elongation at pluripotency loci, resolving how it maintains ESC self-renewal.

    Evidence Paf1 complex Co-IP, Pol II elongation assays, and differentiation phenotype upon Phf5a depletion in mouse ESCs and myoblasts

    PMID:27749823

    Open questions at the time
    • Whether Paf1 stabilization is direct or via splicing of Paf1 subunit mRNAs was not fully excluded
    • Structural basis of Paf1–PHF5A interaction unresolved
  6. 2017 High

    The crystal structure of PHF5A and cryo-EM of the spliceosome revealed that PHF5A-Y36 and SF3B1 residues form the branch point adenosine-binding pocket, which is also the target of clinical splicing modulators pladienolide, herboxidiene, and spliceostatin.

    Evidence Crystal structure of human PHF5A, cryo-EM of Bact complex, Y36C mutagenesis conferring drug resistance, RNA-seq

    PMID:28541300

    Open questions at the time
    • Full atomic model of drug bound in the pocket not resolved in this study
    • Mechanism of GC-content-dependent differential sensitivity not fully explained
  7. 2018 High

    PHF5A was shown to be required for SF3b complex stability and to link the spliceosome to histones; its loss altered alternative splicing of apoptotic regulators including FASTK, sensitizing breast cancer cells to Fas-mediated apoptosis.

    Evidence In vivo CRISPR screen, Co-IP of SF3b complex, RNA-seq, proliferation and apoptosis assays

    PMID:29700004

    Open questions at the time
    • Nature of histone linkage (direct binding vs. indirect) not structurally resolved
    • Whether FASTK splicing change is direct or secondary unclear
  8. 2019 High

    p300-mediated acetylation of PHF5A at K29 was identified as a stress-responsive post-translational switch that strengthens U2 snRNP assembly and globally reprograms alternative splicing, including stabilization of KDM3A mRNA in colorectal cancer.

    Evidence Acetylome MS, in vitro p300 acetylation, Co-IP of U2 snRNP components, K29 mutagenesis, RNA-seq

    PMID:31054974

    Open questions at the time
    • Deacetylase counteracting p300 at K29 not identified
    • Whether K29ac and K25 crotonylation are mutually exclusive or co-regulated is unknown
  9. 2020 Medium

    A PAF1–PHF5A–DDX3 sub-complex was found to bind the NANOG promoter in pancreatic cancer stem cells, extending PHF5A's transcriptional role to stemness regulation independent of the canonical PAF1C.

    Evidence Reciprocal Co-IP, mass spectrometry, ChIP-seq, DDX3 inhibitor rescue in pancreatic CSCs

    PMID:32781084

    Open questions at the time
    • Whether this complex acts via chromatin remodeling or transcriptional elongation is not distinguished
    • Generalizability beyond pancreatic CSCs untested
  10. 2021 High

    PHF5A was established as a DNA repair factor: it stabilizes p400 at immunoglobulin switch regions to deposit H2A.Z and γH2AX, enabling NHEJ-dependent repair of AID-induced and I-SceI-induced DSBs during class switch recombination.

    Evidence siRNA screen, ChIP for p400 and H2A variants at S regions, I-SceI DSB reporter, Co-IP

    PMID:33938017

    Open questions at the time
    • Whether PHF5A's role in DSB repair is spliceosome-dependent or independent not resolved
    • Direct PHF5A–p400 binding interface unknown
  11. 2021 Medium

    SIRT7-mediated decrotonylation of PHF5A at K25 was identified as a second acyl modification that modulates splicing, specifically causing intron retention in CDK2 mRNA to drive cellular senescence.

    Evidence Crotonylome MS, SIRT7 KD/OE, RNA-seq splicing analysis in fibroblasts

    PMID:34604215

    Open questions at the time
    • Crotonylation writer enzyme unknown
    • Single-lab finding not independently confirmed
    • Whether K25 modification affects U2 snRNP assembly as K29ac does is untested
  12. 2023 Medium

    Phosphorylation of PHF5A at Y36 by TrkA-ERK1/2-ABL1 was shown to drive a spliceosome-independent centrosomal function—promoting CEP250–Nek2A interaction and premature centrosome separation—demonstrating that the same residue targeted by splicing drugs also mediates a distinct non-splicing activity relevant to medulloblastoma.

    Evidence Phosphorylation assays, centrosome fractionation, Co-IP of CEP250/Nek2A, Y36 mutagenesis, kinase inhibitors

    PMID:36759599

    Open questions at the time
    • Single-lab study; centrosomal localization not confirmed by independent methods
    • Whether Y36 phosphorylation and drug binding are mutually exclusive not tested
    • Structural basis for CEP250/Nek2A interaction unknown
  13. 2023 Medium

    De novo heterozygous PHF5A variants were identified as causative for a Mendelian developmental syndrome, establishing PHF5A haploinsufficiency as pathogenic in human development while revealing feedback autoregulation of SF3B complex levels.

    Evidence Clinical genomics in multiple families, fibroblast SF3B complex assays, transcriptome sequencing

    PMID:37422718

    Open questions at the time
    • Pathogenic mechanism in neural crest cells specifically not directly demonstrated
    • Number of affected individuals still small
    • Genotype-phenotype correlation across variant types not established
  14. 2023 Medium

    PHF5A was placed within a PHF5A–PHF14–HMG20A–RAI1–KMT2A complex in pancreatic cancer stem cells, linking it to histone H3K4 methylation and epigenetic maintenance of stemness.

    Evidence Co-IP, KMT2A-WDR5 inhibitor, in vivo tumor assay in pancreatic CSCs

    PMID:37709746

    Open questions at the time
    • Whether PHF5A directly contacts KMT2A is unknown
    • Stoichiometry and stability of this complex not characterized
  15. 2025 Medium

    In avian neural crest development, DLC1 was shown to partner with SF3B1–PHF5A to confer target specificity for splicing of SOX9 and SNAI2, revealing how a non-spliceosome accessory factor co-opts the PHF5A branch-point recognition machinery to determine cell fate.

    Evidence Protein-protein interaction assays, splicing reporters, pladienolide B pharmacology, in vivo avian embryo RNA splicing analysis

    PMID:40691464

    Open questions at the time
    • Generalizability to mammalian neural crest not shown
    • Whether DLC1 interaction is conserved in human PHF5A untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include: (1) how PHF5A's splicing-dependent and splicing-independent functions (Paf1 stabilization, centrosome regulation, DNA repair) are coordinately regulated; (2) the interplay among multiple acyl modifications (K29 acetylation, K25 crotonylation) and Y36 phosphorylation; and (3) the cell-type-specific pathomechanism underlying the PHF5A-associated developmental syndrome.
  • No integrative model of PTM cross-talk on PHF5A
  • Tissue-specific splicing targets during embryonic development uncharacterized
  • Full atomic structure of PHF5A within the drug-bound SF3b complex not yet available

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003723 RNA binding 4 GO:0140110 transcription regulator activity 3 GO:0042393 histone binding 2 GO:0060090 molecular adaptor activity 2
Localization
GO:0005634 nucleus 2 GO:0005654 nucleoplasm 1 GO:0005815 microtubule organizing center 1
Pathway
R-HSA-8953854 Metabolism of RNA 6 R-HSA-1266738 Developmental Biology 3 R-HSA-1643685 Disease 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-73894 DNA Repair 1
Partners
CEP250DDX3DLC1EP400NEK2PAF1SF3B1U2AF1
Complex memberships
PAF1-PHF5A-DDX3PHF5A-PHF14-HMG20A-RAI1-KMT2ASF3b (U2 snRNP)

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2017 PHF5A, a component of the SF3b subcomplex, is targeted by splicing modulators pladienolide, herboxidiene, and spliceostatin. Mutations in PHF5A-Y36, SF3B1-K1071, SF3B1-R1074, and SF3B1-V1078 confer resistance to these modulators, indicating a common interaction site. Crystal structure of human PHF5A shows Y36 is located on a highly conserved surface, and cryo-EM analysis of the spliceosome Bact complex shows the resistance mutations cluster in a pocket surrounding the branch point adenosine, suggesting competitive binding. PHF5A-Y36C has minimal effect on basal splicing but inhibits the global action of these splicing modulators and alters their induced intron-retention/exon-skipping profile correlating with GC content of adjacent introns and exons. Crystal structure determination, cryo-EM spliceosome analysis, mutagenesis resistance studies, RNA-seq 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 in GSCs inhibits splicing of these genes, leading to cell cycle arrest and loss of viability, while having minimal effect in untransformed neural stem cells, astrocytes, or fibroblasts. Pharmacologic inhibition of U2 snRNP activity phenocopied PHF5A knockdown. PHF5A inhibition also compromised GSC tumor formation in vivo and inhibited growth of established GBM patient-derived xenograft tumors. Genome-wide RNAi screen, RNA-seq, pharmacologic inhibition, in vivo xenograft experiments Genes & development High 23651857
2016 Phf5a is essential for maintaining pluripotency in embryonic stem cells (ESCs); depletion leads to differentiation. Mechanistically, Phf5a stabilizes the Paf1 transcriptional complex and controls RNA polymerase II elongation on pluripotency loci. Phf5a also controls differentiation of adult myoblasts. Loss-of-function (depletion), RNA polymerase II elongation assays, Paf1 complex co-immunoprecipitation, transcriptional analysis Nature cell biology High 27749823
2019 PHF5A can be acetylated at lysine 29 (K29) in response to multiple cellular stresses (e.g., nutrient starvation/reduced Acetyl-CoA), and this acetylation is dependent on p300. PHF5A K29 acetylation strengthens interactions among U2 snRNPs and affects global pre-mRNA splicing patterns, including alternative splicing that stabilizes KDM3A mRNA and promotes KDM3A protein expression, contributing to stress resistance in colorectal cancer cells. Mass spectrometry acetylome analysis, Co-IP, RNA-seq, mutagenesis, in vitro acetylation assay with p300 Molecular cell High 31054974
2008 PHF5A interacts with ATP-dependent helicases EP400 and DDX1 (via its N-terminal region) and with arginine-serine (RS)-rich domains of splicing factors U2AF1 and SFRS5 (via its C-terminal region) in mouse. PHF5A functions as a bridge protein: EP400 and DDX1 interact only indirectly with U2AF1 and SFRS5 via PHF5A. PHF5A-GFP localizes predominantly to the nucleus and co-localizes with U2AF1 and SFRS5 in nuclear speckles of NIH3T3 cells. Interaction between PHF5A and U2AF1 was confirmed in spermatocyte-specific cell line GC-4spc by co-immunoprecipitation. Yeast two-hybrid, yeast three-hybrid, domain deletion studies, GFP fusion live imaging, co-immunoprecipitation Cytogenetic and genome research High 18758164
2021 Phf5a/Sf3b14b regulates the DNA repair step of class switch recombination (CSR). Loss of Phf5a severely impairs AID-induced recombination without perturbing DNA breaks or somatic hypermutation. Phf5a stabilizes the p400 histone chaperone complex at the immunoglobulin switch (S) region, which promotes deposition of H2A variants H2AX and H2A.Z critical for early DNA damage response and NHEJ-dependent repair, respectively. Depletion of Phf5a or p400 blocks repair of both AID- and I-SceI-induced DNA double-strand breaks. siRNA loss-of-function screen, chromatin immunoprecipitation, histone variant deposition assays, I-SceI DSB reporter assay, co-immunoprecipitation The EMBO journal High 33938017
2018 PHF5A is required for SF3b spliceosome complex stability and links the complex to histones. The PHF5A-SF3b complex modulates alternative splicing changes in apoptotic signaling. PHF5A ablation increases expression of a short truncated FAS-activated serine/threonine kinase (FASTK) protein, facilitating Fas-mediated apoptosis in breast cancer cells. Loss of PHF5A suppresses cell proliferation, migration, and tumor formation. In vivo CRISPR screen, Co-IP (SF3b complex), RNA-seq, knockdown with proliferation/apoptosis phenotype readout Cancer research High 29700004
2021 SIRT7 decrotonylates PHF5A at K25 in senescent fibroblasts. Decrotonylation of PHF5A K25 contributes to decreased CDK2 expression through retained-intron-induced abnormal alternative splicing, thereby accelerating fibroblast senescence. Mass spectrometry crotonylome profiling, SIRT7 knockdown/overexpression, Western blot, RNA-seq splicing analysis Frontiers in cell and developmental biology Medium 34604215
2002 The C. elegans ortholog of PHF5A (phf-5) is expressed in a muscle-specific, stage-specific manner (pharynx, body wall, anal muscles) during the morphogenetic phase of embryonic development. phf-5 RNAi demonstrates that PHF-5 is essential for morphogenetic development and muscle function in C. elegans embryos and young larvae. Transgenic phf-5::yfp reporter, RNAi loss-of-function, phenotypic analysis Biochemical and biophysical research communications Medium 12359262
2003 PHF5A (Ini) localizes to the nucleus of HeLa cells, binds to the proximal connexin43 (cx43) promoter (demonstrated by EMSA), and enhances estrogen-induced upregulation of the cx43 gene in a dose-dependent manner. PHF5A stimulates the transcriptional activating function AF-1 (but not AF-2) of estrogen receptor alpha (ERα), acting as a coactivator specific for AF-1. Electrophoretic mobility shift assay (EMSA), transient transfection/reporter assay, expression library screening Endocrinology Medium 12810571
2020 In pancreatic cancer stem cells (CSCs), PAF1 interacts with PHF5A and DDX3, forming a PAF1-PHF5A-DDX3 sub-complex that binds to the promoter region of NANOG to regulate stemness. This interaction was independent of the full PAF1C complex identity. Co-immunoprecipitation, mass spectrometry, chromatin immunoprecipitation sequencing (ChIP-seq), DDX3 inhibitor rescue experiments Gastroenterology Medium 32781084
2023 KMT2A (a histone methyltransferase) is a physical binding partner of a PHF5A-PHF14-HMG20A-RAI1 protein subcomplex in pancreatic cancer stem cells (PCSCs) and functions as an epigenetic regulator of PCSC properties. Targeting the complex with a KMT2A-WDR5 inhibitor attenuates PCSC self-renewal capacity, cell viability, and in vivo tumorigenicity. Co-immunoprecipitation, chemical inhibitor (KMT2A-WDR5 inhibitor), in vivo tumor assay Nature communications Medium 37709746
2023 PHF5A is phosphorylated at Y36 by the TrkA-ERK1/2-ABL1 signaling cascade. PHF5A is enriched in the centrosome. Phospho-Y36-PHF5A promotes interaction between CEP250 and Nek2A in a spliceosome-independent manner, leading to premature centrosome separation, which remodels microtubules and subsequently regulates cell proliferation and migration. This TrkA-ERK1/2-ABL1-PHF5A phosphorylation cascade is hyper-regulated in medulloblastoma. Phosphorylation assays, centrosome fractionation, Co-immunoprecipitation (CEP250/Nek2A), mutagenesis (Y36), kinase inhibition Cell death & disease Medium 36759599
2023 De novo heterozygous PHF5A variants (including loss-of-function variants) cause a developmental syndrome with craniofacial abnormalities, developmental delay, and hypospadias. In subject-derived fibroblasts with PHF5A LOF variants, SF3B complex formation was unaffected in 2 subject cell lines, and feedback mechanisms maintain normal levels of SF3B components, suggesting disturbed autoregulation in specific cell types (e.g., neural crest cells) during embryonic development as the pathomechanism rather than simple haploinsufficiency. Clinical genomics, functional fibroblast studies, transcriptome sequencing, SF3B complex formation assays Genetics in medicine Medium 37422718
2020 CHD4 promotes NSCLC proliferation and migration through its interaction with PHF5A and subsequent activation of the RhoA/ROCK signaling pathway. CHD4 knockdown/overexpression, Western blot for RhoA/ROCK markers, xenograft mouse model BMC cancer Low 32228507
2025 In avian neural crest (NC) development, DLC1 partners with the SF3B1-PHF5A splicing complex to determine trunk NC cell fate by regulating splicing of NC specifiers SOX9 and SNAI2 pre-mRNAs. SF3B1-PHF5A binds to intronic branch site (BS) sequences of multiple factors, while DLC1 interacts with a specific motif near the BS sequences of SOX9 and SNAI2 to confer specificity. DLC1 increases NC cell vulnerability to splicing modulator pladienolide B (PB) by reducing SF3B1-PHF5A binding capacity to weaker polypyrimidine tracts, causing intron retention. Protein-protein interaction assays, splicing reporter assays, pladienolide B pharmacology, RNA splicing analysis in avian embryos Nature communications Medium 40691464
2023 PHF5A silencing in esophageal squamous cell carcinoma (ESCC) promotes VEGFA ubiquitination by enhancing its interaction with the E3 ubiquitin ligase MDM2, thereby reducing VEGFA protein stability. The tumor-promoting effects of PHF5A are dependent on intact VEGFA and PI3K/AKT signaling. Co-immunoprecipitation (PHF5A-MDM2), ubiquitination assays, microarray, siRNA knockdown, xenograft Biology direct Low 38429756
2023 PHF5A regulates alternative splicing of DOCK5 to produce an oncogenic DOCK5 variant in head and neck squamous cell carcinoma (HNSCC), and this promotes HNSCC progression through p38 MAPK pathway activation. qRT-PCR, siRNA/overexpression, Western blot (p38 MAPK), xenograft, TCGA correlation Biology direct Low 37434235

Source papers

Stage 0 corpus · 81 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 184 28291122
2014 SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract. The American journal of surgical pathology 150 25007146
2017 Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex. Nature communications 117 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 90 27587586
2019 Acetylation of PHF5A Modulates Stress Responses and Colorectal Carcinogenesis through Alternative Splicing-Mediated Upregulation of KDM3A. Molecular cell 82 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 58 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 54 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
2011 Immunohistochemical analysis of SMARCB1/INI-1 expression in collecting duct carcinoma. Urology 37 21705046
2021 SIRT7-Induced PHF5A Decrotonylation Regulates Aging Progress Through Alternative Splicing-Mediated Downregulation of CDK2. Frontiers in cell and developmental biology 36 34604215
2020 CHD4 mediates proliferation and migration of non-small cell lung cancer via the RhoA/ROCK pathway by regulating PHF5A. BMC cancer 34 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
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
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 20 23161234
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
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
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 10 35777798
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
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 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
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 2 39108263
2024 Splicing control by PHF5A is crucial for melanoma cell survival. Cell proliferation 2 39212334
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 PHF5A promotes esophageal squamous cell carcinoma progression via stabilizing VEGFA. Biology direct 1 38429756
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
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