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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PAXIP1
PAX interacting protein 1
Chromosome 7 · 7q36.2
NCBI Gene: 22976Ensembl: ENSG00000157212.21HGNC: HGNC:8624UniProt: Q6ZW49
99PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingchromatin remodelingresponse to ionizing radiationDNA damage response, signal transduction by p53 class mediatorintelligenceneurodegenerative diseaseAbnormal nasolacrimal system morphologyacute tonsillitis
✦AI Summary

PAXIP1 (PAX interacting protein 1) is a multifunctional chr7-associated protein that plays critical roles in DNA repair, chr7 organization, and transcriptional regulation. In DNA damage response, PAXIP1 is required for cell survival after ionizing radiation and facilitates homologous recombination repair of double-strand breaks, with its localization to damage foci requiring RNF8 and UBE2N 1. PAXIP1 forms a heterodimeric complex with PAGR1 that regulates chr7 association of the cohesin complex, independent of DNA replication, and is essential for maintaining 3D genome architecture 2. This function is particularly important for steroid hormone receptor signaling, where PAXIP1 works with the cohesin subunit STAG2 to maintain enhancer-promoter interactions necessary for glucocorticoid receptor-mediated transcription 3. PAXIP1 also functions as a tumor suppressor, with the STAG2-PAXIP1/PAGR1 axis suppressing lung tumorigenesis 4. Loss-of-function mutations in PAXIP1 contribute to PARP inhibitor resistance in BRCA-mutant breast cancers 1. Additionally, PAXIP1 has metabolic regulatory functions, promoting H3K4me3 upregulation and transcription of ferroptosis-related genes like HMOX1 during glutamine restriction in pancreatic cancer 5. These findings establish PAXIP1 as a key coordinator of chr7 structure, DNA repair, and gene expression.

Sources cited
1
In DNA damage response, PAXIP1 is required for cell survival after ionizing radiation and facilitates homologous recombination repair of double-strand breaks, with its localization to damage foci requiring RNF8 and UBE2N .
PMID: 38244928
2
PAXIP1 forms a heterodimeric complex with PAGR1 that regulates chr7 association of the cohesin complex, independent of DNA replication, and is essential for maintaining 3D genome architecture .
PMID: 37702151
3
This function is particularly important for steroid hormone receptor signaling, where PAXIP1 works with the cohesin subunit STAG2 to maintain enhancer-promoter interactions necessary for glucocorticoid receptor-mediated transcription .
PMID: 37070193
4
PAXIP1 also functions as a tumor suppressor, with the STAG2-PAXIP1/PAGR1 axis suppressing lung tumorigenesis .
PMID: 39652422
5
Additionally, PAXIP1 has metabolic regulatory functions, promoting H3K4me3 upregulation and transcription of ferroptosis-related genes like HMOX1 during glutamine restriction in pancreatic cancer .
PMID: 39879992
Disease Associationsⓘ20
intelligenceOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.38Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.26Weak
acute tonsillitisOpen Targets
0.21Weak
alcohol drinkingOpen Targets
0.20Weak
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
injuryOpen Targets
0.09Suggestive
refractive errorOpen Targets
0.09Suggestive
body weight gainOpen Targets
0.08Suggestive
Abruptio PlacentaeOpen Targets
0.08Suggestive
chondromalaciaOpen Targets
0.08Suggestive
device complicationOpen Targets
0.08Suggestive
cervical carcinomaOpen Targets
0.08Suggestive
pulmonary arterial hypertensionOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
smoking initiationOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
Increased total eosinophil countOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KMT2BProtein interaction100%H2AC20Protein interaction100%H3-4Protein interaction100%H3-3BProtein interaction100%H3C13Protein interaction100%H3C12Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
65%
Liver
55%
Lung
39%
Heart
39%
Brain
39%
Gene Interaction Network
Click a node to explore
PAXIP1KMT2BH2AC20H3-4H3-3BH3C13H3C12
PROTEIN STRUCTURE
Preparing viewer…
PDB3SQD · 2.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.28Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.10–0.28]
RankingsWhere PAXIP1 stands among ~20K protein-coding genes
  • #4,850of 20,598
    Most Researched99 · top quartile
  • #950of 17,882
    Most Constrained (LOEUF)0.28 · top 10%
Genes detectedPAXIP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting pancreatic cancer glutamine dependency confers vulnerability to GPX4-dependent ferroptosis.
PMID: 39879992
Cell Rep Med · 2025
1.00
2
The HOXD9-mediated PAXIP1-AS1 regulates gastric cancer progression through PABPC1/PAK1 modulation.
PMID: 37225681
Cell Death Dis · 2023
0.90
3
Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.
PMID: 38244928
Ann Oncol · 2024
0.80
4
A STAG2-PAXIP1/PAGR1 axis suppresses lung tumorigenesis.
PMID: 39652422
J Exp Med · 2025
0.70
5
CRISPR screens in sister chromatid cohesion defective cells reveal PAXIP1-PAGR1 as regulator of chromatin association of cohesin.
PMID: 37702151
Nucleic Acids Res · 2023
0.60