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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PHAX
phosphorylated adaptor for RNA export
Chromosome 5 · 5q23.2
NCBI Gene: 51808Ensembl: ENSG00000164902.15HGNC: HGNC:10241UniProt: Q9H814
80PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmRNA cap binding complex bindingRNA stabilizationnucleoplasmneurodegenerative diseaseadult-onset autosomal dominant demyelinating leukodystrophyHirschsprung diseaseAganglionic megacolon
✦AI Summary

PHAX (phosphorylated adaptor for RNA export) is a phosphoprotein that serves as a critical adapter in multiple RNA transport pathways. Its primary function involves facilitating the nuclear export of U snRNAs by bridging the cap-binding complex (CBC) to the export machinery, specifically CRM1-RanGTP 1. PHAX contains a unique RNA-binding domain that binds single-stranded RNA with micromolar affinity in a sequence-independent manner 2. The protein's function is regulated by compartmentalized phosphorylation: nuclear phosphorylation is required for export complex assembly, while cytoplasmic dephosphorylation causes complex disassembly 1. Beyond snRNA export, PHAX plays essential roles in snoRNA transport within the nucleus, binding m7G-capped U3, U8, and U13 precursors and facilitating their transport from nucleoplasm to Cajal bodies before CRM1-mediated routing to nucleoli 3. Additionally, PHAX regulates histone H2AX expression by controlling both transcription and mRNA export, which is crucial for DNA damage response 4. Recent findings show that RNA helicase DDX39 facilitates PHAX loading onto RNA substrates, revealing additional mechanistic complexity 5. PHAX also participates in RNA quality control by mediating export of unadenylated transcripts for cytoplasmic degradation 6.

Sources cited
1
PHAX bridges CBC to CRM1-RanGTP for snRNA export and requires phosphorylation for complex assembly
PMID: 40610714
2
PHAX contains unique RNA-binding domain that binds single-stranded RNA with micromolar affinity
PMID: 20430857
3
PHAX binds m7G-capped snoRNA precursors and facilitates transport to Cajal bodies
PMID: 15574332
4
PHAX regulates H2AX expression and is required for DNA damage response
PMID: 32759388
5
DDX39 RNA helicase facilitates PHAX loading onto RNA substrates
PMID: 39011894
6
PHAX mediates nuclear export of unadenylated transcripts for cytoplasmic degradation
PMID: 39617768
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
adult-onset autosomal dominant demyelinating leukodystrophyOpen Targets
0.34Weak
Aganglionic megacolonOpen Targets
0.11Weak
Hirschsprung diseaseOpen Targets
0.11Weak
esophageal cancerOpen Targets
0.07Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
contact dermatitisOpen Targets
0.05Suggestive
osteoporosisOpen Targets
0.05Suggestive
kidney diseaseOpen Targets
0.05Suggestive
COVID-19Open Targets
0.04Suggestive
hyperpituitarismOpen Targets
0.03Suggestive
Abnormality of limbsOpen Targets
0.03Suggestive
testicular diseaseOpen Targets
0.03Suggestive
breast diseaseOpen Targets
0.02Suggestive
intestinal diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
prolapse of female genital organOpen Targets
0.02Suggestive
gallbladder diseaseOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZCCHC17Shared pathway100%SNRPD1Protein interaction100%SNRPBProtein interaction100%XPO1Protein interaction99%SRRTProtein interaction99%GEMIN6Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
73%
Liver
47%
Ovary
45%
Bone Marrow
36%
Lung
33%
Gene Interaction Network
Click a node to explore
PHAXZCCHC17SNRPD1SNRPBXPO1SRRTGEMIN6
PROTEIN STRUCTURE
Preparing viewer…
PDB9HFL · 2.62 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.59–1.11]
RankingsWhere PHAX stands among ~20K protein-coding genes
  • #5,952of 20,598
    Most Researched80
  • #11,371of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedPHAX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TRIM24 Cooperates with Ras Mutation to Drive Glioma Progression through snoRNA Recruitment of PHAX and DNA-PKcs.
PMID: 38828688
Adv Sci (Weinh) · 2024
1.00
2
Structural basis for the synergistic assembly of the snRNA export complex.
PMID: 40610714
Nat Struct Mol Biol · 2025
0.90
3
RNA 3'end tailing safeguards cells against products of pervasive transcription termination.
PMID: 39617768
Nat Commun · 2024
0.80
4
Structure and RNA recognition by the snRNA and snoRNA transport factor PHAX.
PMID: 20430857
RNA · 2010
0.70
5
The RNA helicase DDX39 contributes to the nuclear export of spliceosomal U snRNA by loading of PHAX onto RNA.
PMID: 39011894
Nucleic Acids Res · 2024
0.60