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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PWP1
PWP1 homolog, endonuclein
Chromosome 12 · 12q23.3
NCBI Gene: 11137Ensembl: ENSG00000136045.12HGNC: HGNC:17015UniProt: B4DJV5
118PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription of nucleolar large rRNA by RNA polymerase Inucleolushistone H4K20me3 reader activitynucleusneurodegenerative diseasecystic kidney diseasejoint diseaseessential tremor
✦AI Summary

PWP1 (periodic tryptophan protein 1) is a WD-40 repeat-containing chr12-associated protein that functions as a key regulator of ribosome biogenesis and growth control. Primary Function: PWP1 regulates RNA polymerase I (Pol I)-mediated transcription of large rRNAs (5.8S, 18S, 28S) and coordinates with Pol III-mediated 5S rRNA transcription 12. It epigenetically maintains rDNA loci in a transcription-competent state through histone H4K20me3-dependent mechanisms 13. Mechanism: PWP1 responds to nutrient-dependent mTOR signaling, controlling nucleolar localization and TFIIH recruitment to regulate ribosomal gene expression 1. In telomere maintenance, PWP1 stabilizes the shelterin complex via WD40 domains and regulates H4K20me3 levels 3. Disease Relevance: PWP1 is frequently overexpressed in multiple human cancers. In colorectal cancer, elevated PWP1 drives growth through ribosome biogenesis 4. In gastric cancer, PWP1 transcriptionally regulates p53, promoting proliferation and suppressing apoptosis 5. In lung cancer, PWP1 enhances Wnt signaling and inhibits Hippo signaling via interactions with DVL2 and Merlin 6. Clinical Significance: High PWP1 expression correlates with poor prognosis in head and neck squamous cell carcinoma and lung cancer, representing a potential therapeutic target 16.

Sources cited
1
PWP1 is a chromatin-associated regulator of Pol I-mediated rRNA transcription, epigenetically maintains rDNA in transcription-competent state, responds to nutrient signaling via mTOR, and high PWP1 levels correlate with poor prognosis in head and neck squamous cell carcinoma
PMID: 29065309
2
PWP1 controls nutrient-responsive expression of 5S rRNA by Pol III and coordinates with Pol I regulation of other rRNAs through epigenetic H4K20me3 modifications
PMID: 30361412
3
PWP1 is essential for telomere maintenance, binds and stabilizes the shelterin complex via WD40 domains, and regulates H4K20me3 levels; PWP1 depletion causes telomere shortening and increased DNA damage
PMID: 31754456
4
PWP1 knockdown inhibits colorectal cancer proliferation by suppressing de novo rRNA synthesis and ribosome biogenesis
PMID: 40057905
5
PWP1 transcriptionally regulates p53 expression in gastric cancer, promoting cell proliferation and suppressing apoptosis; PWP1 knockdown increases apoptosis and G1 phase cell cycle arrest
PMID: 39720977
6
PWP1 is overexpressed in lung cancer, correlates with poor differentiation and poor prognosis, promotes Wnt signaling via DVL2 interaction and inhibits Hippo signaling via Merlin interaction
PMID: 33116587
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
cystic kidney diseaseOpen Targets
0.23Weak
joint diseaseOpen Targets
0.21Weak
essential tremorOpen Targets
0.17Weak
obesityOpen Targets
0.11Weak
gastric cancerOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
temporomandibular joint disorderOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
human papilloma virus infectionOpen Targets
0.06Suggestive
oropharynx cancerOpen Targets
0.06Suggestive
osteoarthritis, kneeOpen Targets
0.06Suggestive
androgenetic alopeciaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
knee fractureOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
esophageal ulcerOpen Targets
0.03Suggestive
device complicationOpen Targets
0.03Suggestive
Phenotypic abnormalityOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NIFKProtein interaction99%BMS1Protein interaction99%RRP12Protein interaction98%PDCD11Protein interaction98%GTPBP4Protein interaction98%RBM34Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
83%
Ovary
75%
Liver
55%
Lung
55%
Heart
51%
Gene Interaction Network
Click a node to explore
PWP1NIFKBMS1RRP12PDCD11GTPBP4RBM34
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q13610
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.49–0.83]
RankingsWhere PWP1 stands among ~20K protein-coding genes
  • #4,011of 20,598
    Most Researched118 · top quartile
  • #7,121of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedPWP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Periodic tryptophan protein 1 promotes colorectal cancer growth via ribosome biogenesis.
PMID: 40057905
Int J Clin Oncol · 2025
1.00
2
PWP1 transcriptionally regulates p53, modulating apoptosis and cell cycle to promote gastric cancer progression.
PMID: 39720977
Apoptosis · 2025
0.90
3
PMID: 31754456
Cell Discov · 2019
0.80
4
PWP1 Mediates Nutrient-Dependent Growth Control through Nucleolar Regulation of Ribosomal Gene Expression.
PMID: 29065309
Dev Cell · 2017
0.70
5
Pwp1 is required for the differentiation potential of mouse embryonic stem cells through regulating Stat3 signaling.
PMID: 25335925
Stem Cells · 2015
0.60