Affinage

PHAX

Phosphorylated adapter RNA export protein · UniProt Q9H814

Length
394 aa
Mass
44.4 kDa
Annotated
2026-06-10
13 papers in source corpus 11 papers cited in narrative 11 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PHAX (phosphorylated adaptor for RNA export) is the central scaffold that licenses m7G-capped short Pol II transcripts—principally U snRNAs—for CRM1-dependent nuclear export, coupling cap recognition to the export machinery in a phosphorylation-gated manner (PMID:10786834). It is built around a novel, evolutionarily conserved helical RNA-binding domain that folds only upon engaging single-stranded RNA without sequence specificity, plus a distinct CBC-interaction region and nuclear localization signals that together let PHAX bridge CBC-bound capped RNA to the export receptor (PMID:11333016, PMID:20430857). Phosphorylation is required for export complex assembly while cytoplasmic dephosphorylation drives disassembly, imposing directionality on transport (PMID:10786834); cryo-EM of the assembled snRNA export complex shows the central region of PHAX bridging the capped RNA–CBC to CRM1–RanGTP and contacting CRM1 through a phosphorylated segment, with CBC engagement displacing ARS2 and excluding ALYREF/NCBP3 [PMID:bio_10.1101_2024.11.28.625805]. PHAX is actively loaded onto U snRNA by the ATP-dependent helicase UAP56/DDX39B via an ALYREF bridge, a route distinct from bulk mRNA export (PMID:39011894), and is selectively excluded from longer transcripts by hnRNP C tetramers on CBC, enforcing length-dependent RNA class identity (PMID:36620872). Beyond export, PHAX directs intranuclear routing of m7G-capped box C/D snoRNA precursors to Cajal bodies as the first step of their maturation (PMID:15574332), and supports the DNA damage response by promoting transcription and nuclear export of the short H2AX mRNA (PMID:32759388). In specific oncogenic contexts PHAX additionally scaffolds signaling complexes—linking U3 snoRNA to a TRIM24/DNA-PKcs cascade in glioma and binding LIN28B to stabilize PBX3 mRNA in esophageal cancer (PMID:38828688, PMID:39668567).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 2000 High

    Established PHAX as an essential, phosphorylation-controlled adaptor that physically couples capped U snRNA to the CRM1 export pathway and explains export directionality.

    Evidence In vitro export complex assembly, in vivo depletion, and biochemical analysis of phosphorylation state

    PMID:10786834

    Open questions at the time
    • Kinase and phosphatase that toggle PHAX phosphorylation not identified
    • Structural basis of CBC/CRM1 bridging not resolved at this stage
  2. 2001 High

    Defined the modular architecture—a conserved RNA-binding domain, separable CBC-interaction region, and NLSs—that allows PHAX to act as a recyclable export scaffold.

    Evidence Systematic domain mutagenesis with in vivo export and binding assays

    PMID:11333016

    Open questions at the time
    • Atomic structure of the RBD not yet determined
    • How NLS-driven recycling is coordinated with dephosphorylation unclear
  3. 2004 High

    Extended PHAX function beyond export to intranuclear trafficking, showing it routes capped box C/D snoRNA precursors to Cajal bodies, with cap hypermethylation blocking their export.

    Evidence RNA–protein co-IP, in vivo inactivation of PHAX and CRM1, fluorescence microscopy

    PMID:15574332

    Open questions at the time
    • Molecular signal distinguishing Cajal-body routing from export not defined
    • Cap hypermethylation enzymology not addressed here
  4. 2010 High

    Solved the RBD fold, revealing a novel helical domain that is intrinsically disordered until RNA binding induces tertiary structure, and confirmed RNA binding is required for export.

    Evidence NMR, X-ray crystallography, and mutational analysis with export assays

    PMID:20430857

    Open questions at the time
    • Lack of sequence specificity leaves substrate selection to other factors
    • Structure of the RBD within the full export complex not yet known
  5. 2020 Medium

    Connected PHAX to genome stability by showing it controls both transcription and export of the short H2AX mRNA, with loss sensitizing cells to DNA damage.

    Evidence siRNA knockdown, RT-qPCR/Northern blot, γH2AX immunofluorescence, damage sensitivity assays

    PMID:32759388

    Open questions at the time
    • Mechanism by which PHAX affects H2AX transcription unresolved
    • Generality across other short mRNAs not established
  6. 2022 Medium

    Placed PHAX function genetically upstream of snRNP-dependent splicing in vivo, showing a single splicing event (RpS21 intron retention) can rescue Phax-null lethality.

    Evidence Drosophila genetic suppressor/epistasis analysis with RT-PCR

    PMID:35920767

    Open questions at the time
    • Direct molecular link from PHAX to RpS21 splicing not shown
    • Relevance to mammalian PHAX splicing roles untested
  7. 2023 Medium

    Defined how RNA class identity is enforced upstream of PHAX: hnRNP C tetramers on CBC-bound long transcripts block PHAX recruitment, partitioning them to the mRNA pathway.

    Evidence Co-IP of CBC–hnRNP C, hnRNP C tetramerization/RNA-binding mutants, in vivo export assays

    PMID:36620872

    Open questions at the time
    • Precise length threshold and how it is read out not defined
    • Single-lab data without reciprocal structural validation
  8. 2024 High

    Identified the ATP-dependent loading mechanism that places PHAX on U snRNA, with UAP56/DDX39B stimulating RNA binding and ALYREF bridging the two, defining a TREX-linked route distinct from mRNA export.

    Evidence In vitro ATP-dependent factor assay, RNA-binding and co-IP, in vivo export assays

    PMID:39011894

    Open questions at the time
    • How ALYREF is later displaced during CRM1 complex assembly not shown here
    • Stoichiometry of the loading intermediate unresolved
  9. 2024 High

    Provided the structural mechanism of the complete export complex, showing phosphorylated PHAX bridges capped RNA–CBC to CRM1–RanGTP, reinforces cap binding, and remodels CBC by displacing ARS2 and excluding ALYREF/NCBP3.

    Evidence Cryo-EM structure with in vitro and in-cell mutagenesis (preprint)

    PMID:bio_10.1101_2024.11.28.625805

    Open questions at the time
    • Transition from the ALYREF-bound loading intermediate to this complex not visualized
    • Dephosphorylation-driven disassembly state not structurally captured
  10. 2024 Medium

    Revealed non-canonical scaffolding roles for PHAX in oncogenesis, linking it to a U3 snoRNA–TRIM24–DNA-PKcs signaling cascade in glioma and to LIN28B-mediated PBX3 mRNA stabilization in esophageal cancer.

    Evidence Co-IP, RIP, phospho-site mutagenesis, single-cell RNA-seq, pharmacological inhibition, knockdown with proliferation/apoptosis assays and xenograft

    PMID:38828688 PMID:39668567

    Open questions at the time
    • Whether these activities depend on canonical PHAX export function is unclear
    • Context-specificity and generality across tumor types not established

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the kinase/phosphatase cycle, helicase-driven loading, and CBC remodeling are temporally coordinated into a single directional export cycle remains unresolved.
  • Identity of the PHAX kinase and cytoplasmic phosphatase unknown
  • No structure of the loading intermediate or disassembly state
  • Mechanistic basis of PHAX's effects on transcription not defined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003723 RNA binding 4 GO:0060090 molecular adaptor activity 3
Localization
GO:0005634 nucleus 3
Pathway
R-HSA-8953854 Metabolism of RNA 3 R-HSA-9609507 Protein localization 2
Complex memberships
U snRNA export complex (PHAX–CBC–CRM1–RanGTP)

Evidence

Reading pass · 11 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2000 PHAX (phosphorylated adaptor for RNA export) is an essential factor for U snRNA nuclear export complex assembly in vitro; it directly contacts RNA, the nuclear cap-binding complex (CBC), and the export receptor CRM1/Xpo1, and requires phosphorylation for export complex assembly. Dephosphorylation in the cytoplasm causes export complex disassembly, providing directionality. In vitro export complex assembly assay, in vivo knockdown/depletion, identification of phosphorylation state by biochemistry Cell High 10786834
2001 The most evolutionarily conserved region of PHAX is a novel RNA-binding domain (RBD) essential for U snRNA export. PHAX also contains two major nuclear localization signals (NLSs) required for nuclear recycling after export, and a CBC interaction domain at least partly distinct from the RBD and NLSs, allowing PHAX to act as a scaffold for U snRNA export complex assembly. Systematic mutagenesis/deletion analysis of PHAX domains combined with in vivo export assays and binding assays RNA (New York, N.Y.) High 11333016
2004 PHAX binds m7G-capped U3 snoRNA precursors (as well as U8, U13 box C/D snoRNA precursors and telomerase RNA) and is required for transport of U3 snoRNA to Cajal bodies in the first step of intranuclear routing; CRM1 is subsequently required for routing from Cajal bodies to nucleoli. PHAX does not export m7G-capped U3 because its cap becomes hypermethylated in the nucleus. Immunoprecipitation of RNA–protein complexes, inactivation of PHAX and CRM1 in vivo, fluorescence microscopy Molecular cell High 15574332
2010 The PHAX RNA-binding domain (RNA_GG_bind domain) adopts a novel helical fold and is monomeric in the absence of ligand, only adopting a tertiary structure upon RNA binding; it binds single-stranded RNA with micromolar affinity without sequence specificity. Mutational analysis confirmed that RNA-binding by PHAX-RBD is required for PHAX-mediated nuclear export. NMR spectroscopy, X-ray crystallography, mutational analysis of RNA binding RNA (New York, N.Y.) High 20430857
2020 PHAX is required for efficient DNA damage response (DDR): PHAX knockdown reduces H2AX mRNA levels by inhibiting both transcription of the H2AX gene and nuclear export of H2AX mRNA (one of the shortest mRNAs), leading to reduced γH2AX and increased cellular sensitivity to DNA damage. siRNA knockdown of PHAX, RT-qPCR/Northern blot for H2AX mRNA, γH2AX immunofluorescence, DNA damage sensitivity assays RNA (New York, N.Y.) Medium 32759388
2023 The CBC directly interacts with hnRNP C on mRNA, and the tetramer-forming activity and strong RNA-binding activity of hnRNP C together impede PHAX recruitment to longer transcripts, thereby directing them to the mRNA export pathway rather than the U snRNA export pathway. This reveals the molecular mechanism by which length-dependent RNA classification excludes PHAX from long Pol II transcripts. Co-immunoprecipitation of CBC–hnRNP C complex on mRNA, RNA-binding and tetramerization mutants of hnRNP C, in vivo export assays Nucleic acids research Medium 36620872
2024 The RNA helicase UAP56/DDX39B (and its paralog URH49/DDX39A) stimulates RNA binding of PHAX in an ATP-dependent manner, thereby loading PHAX onto U snRNA and promoting U snRNA export. ALYREF acts as a bridge between PHAX and UAP56/DDX39B. This TREX-component-dependent mechanism for U snRNA export is distinct from the mRNA export mechanism. In vitro ATP-dependent factor identification assay, RNA-binding assays, co-immunoprecipitation, in vivo U snRNA export assays Nucleic acids research High 39011894
2024 Cryo-EM structure of the complete snRNA export complex (phosphorylated PHAX + CBC + CRM1 + Ran-GTP + capped RNA) reveals that the central region of PHAX bridges CBC-bound capped RNA to CRM1–RanGTP, reinforces cap dinucleotide binding, and contacts CRM1 via a phosphorylated region that engages the basic surface of RanGTP. CBC engagement in this complex is incompatible with ALYREF or NCBP3 interactions, displaces ARS2 from CBC, and synergistic binding of all components is required for export complex formation. Cryo-EM structure determination, in vitro mutagenesis, in-cell mutagenesis experiments bioRxivpreprint High bio_10.1101_2024.11.28.625805
2024 PHAX directly binds LIN28B and enhances LIN28B-mediated stabilization of PBX3 mRNA in esophageal cancer cells; PHAX knockdown reduces PBX3 mRNA stability, inhibits cancer cell proliferation, and promotes apoptosis and autophagy in vitro and in vivo. Co-immunoprecipitation (PHAX–LIN28B interaction), RNA immunoprecipitation, siRNA knockdown with proliferation/apoptosis/autophagy readouts, mouse xenograft Cancer science Medium 39668567
2024 In glioma, HRasV12 activates PHAX, which recruits TRIM24 and Ku-dependent DNA-PKcs to U3 snoRNAs; DNA-PKcs then phosphorylates TRIM24 at S767/768, driving epigenome reprogramming. This places PHAX as a scaffold linking U3 snoRNA to a kinase signaling cascade in oncogenesis. Co-immunoprecipitation, RNA immunoprecipitation, phosphorylation site mutagenesis, single-cell RNA-seq, pharmacological inhibition (NU7441) Advanced science (Weinheim, Baden-Wurttemberg, Germany) Medium 38828688
2022 In Drosophila, loss of Phax causes widespread alternative splicing changes; genetic suppressor analysis shows that allele-specific alternative splicing (intron retention vs. splicing) of Ribosomal protein S21 (RpS21) can fully suppress larval lethality of Phax mutants, placing RpS21 splicing downstream of Phax function in snRNP biogenesis. Genetic epistasis/suppressor analysis in Drosophila, RT-PCR for splicing, transposon mutant characterization G3 (Bethesda, Md.) Medium 35920767

Source papers

Stage 0 corpus · 13 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2000 PHAX, a mediator of U snRNA nuclear export whose activity is regulated by phosphorylation. Cell 291 10786834
2004 PHAX and CRM1 are required sequentially to transport U3 snoRNA to nucleoli. Molecular cell 144 15574332
2001 The evolutionarily conserved region of the U snRNA export mediator PHAX is a novel RNA-binding domain that is essential for U snRNA export. RNA (New York, N.Y.) 37 11333016
2014 A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. European journal of medical genetics 20 25195018
2010 Structure and RNA recognition by the snRNA and snoRNA transport factor PHAX. RNA (New York, N.Y.) 14 20430857
2023 The hnRNP C tetramer binds to CBC on mRNA and impedes PHAX recruitment for the classification of RNA polymerase II transcripts. Nucleic acids research 12 36620872
2024 TRIM24 Cooperates with Ras Mutation to Drive Glioma Progression through snoRNA Recruitment of PHAX and DNA-PKcs. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 10 38828688
2020 The RNA transport factor PHAX is required for proper histone H2AX expression and DNA damage response. RNA (New York, N.Y.) 8 32759388
2024 The RNA helicase DDX39 contributes to the nuclear export of spliceosomal U snRNA by loading of PHAX onto RNA. Nucleic acids research 7 39011894
2019 Elevated levels of autoantibodies against EXD2 and PHAX in the sera of patients with chronic thromboembolic pulmonary hypertension. PloS one 5 30759165
2024 PHAX enhanced LIN28B-mediated PBX3 mRNA stability to promote esophageal cancer development. Cancer science 4 39668567
2022 Allele-specific alternative splicing of Drosophila Ribosomal protein S21 suppresses a lethal mutation in the Phosphorylated adaptor for RNA export (Phax) gene. G3 (Bethesda, Md.) 4 35920767
2020 The Efficacy of Sunitinib Treatment of Renal Cancer Cells Is Associated with the Protein PHAX In Vitro. Biology 3 32272660

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