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2 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPP4R1
protein phosphatase 4 regulatory subunit 1
Chromosome 18 · 18p11.22
NCBI Gene: 9989Ensembl: ENSG00000154845.17HGNC: HGNC:9320UniProt: Q8TF05
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein phosphatase 4 complexprotein phosphatase regulator activityprotein phosphorylationmathematical abilityneurodegenerative diseasesmoking initiationAlzheimer disease
✦AI Summary

Based on limited published evidence, PPP4R1 encodes a regulatory subunit of protein phosphatase 4 complex involved in signal transduction and protein phosphorylation regulation. UniProt annotations indicate PPP4R1 participates in merkel polyomavirus-mediated inhibition of NF-κB signaling by bridging viral small tumor antigen with NEMO. The protein localizes to the cytoplasm and exhibits protein binding and phosphatase regulator activities. In breast cancer, PPP4R1 expression is downregulated, particularly in luminal B subtype tumors 1, suggesting potential tumor suppressor functions on chromosome 18.

Sources cited
1
PPP4R1 expression is downregulated in breast tumors and correlated with luminal B molecular subtype
PMID: 20698951
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
mathematical abilityOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
smoking initiationOpen Targets
0.39Weak
Alzheimer diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.33Weak
Parkinson diseaseOpen Targets
0.33Weak
nasopharyngeal neoplasmOpen Targets
0.26Weak
hypertrophic cardiomyopathyOpen Targets
0.23Weak
lung diseaseOpen Targets
0.23Weak
type 2 diabetes mellitusOpen Targets
0.08Suggestive
dyshidrosisOpen Targets
0.07Suggestive
Graves diseaseOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
osteomesopyknosisOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
Osteosclerosis - ichthyosis - premature ovarian failureOpen Targets
0.05Suggestive
osteosclerosis-ichthyosis-premature ovarian failure syndromeOpen Targets
0.05Suggestive
azoospermiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GLYCTKShared pathway100%PPP2CAProtein interaction100%PPP2R1AProtein interaction100%PPP4R3AProtein interaction100%PPP4R4Protein interaction98%PPP2R1BProtein interaction98%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
98%
Heart
75%
Ovary
58%
Brain
50%
Liver
37%
Gene Interaction Network
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PPP4R1GLYCTKPPP2CAPPP2R1APPP4R3APPP4R4PPP2R1B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TF05
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.51Intermediate
Observed/Expected LoF0.40 [0.31–0.52]
RankingsWhere PPP4R1 stands among ~20K protein-coding genes
  • #8,359of 20,598
    Most Researched54
  • #3,225of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedPPP4R1
Sources retrieved2 papers
Response time—
📄 Sources
2
1
Loss, mutation and deregulation of L3MBTL4 in breast cancers.
PMID: 20698951
Mol Cancer · 2010
1.00
2
lncRNA IGF2-AS regulates miR-500a-3p/PPP4R1/p-VEGFR2 signalling pathway to promote thyroid carcinoma progression and tubulogenesis.
PMID: 37070231
Clin Transl Med · 2023
0.50