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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PPP1R3E
protein phosphatase 1 regulatory subunit 3E
Chromosome 14 Β· 14q11.2
NCBI Gene: 90673Ensembl: ENSG00000235194.10HGNC: HGNC:14943UniProt: Q9H7J1
12PubMed Papers
13Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein phosphatase type 1 complexprotein phosphatase 1 binding[phosphorylase] phosphatase activityglycogen bindingneurodegenerative diseaseneuroinflammatory disorderhyperpituitarismhepatocellular carcinoma
✦AI Summary

Based on limited published evidence, PPP1R3E encodes a glycogen-targeting regulatory subunit of protein phosphatase 1 (PP1) involved in glycogen metabolism. It binds glycogen and directs PP1 to dephosphorylate and activate glycogen synthase, promoting glycogen synthesis 1. PPP1R3E expression is insulin-regulated and downregulated in diabetes, with species-specific tissue distribution differences between humans and rodents 1. Recent genetic studies identified PPP1R3E as a candidate autosomal recessive gene in Parkinson's disease families 2, though the mechanistic relationship between PPP1R3E dysfunction and neurodegeneration remains unclear.

Sources cited
1
PPP1R3E is a glycogen-targeting subunit of PP1 that promotes glycogen synthesis through activation of glycogen synthase; insulin-regulated and differentially expressed across tissues in humans versus rodents
PMID: 15752363
2
PPP1R3E identified as a candidate autosomal recessive gene in Parkinson's disease through homozygous loss-of-function variants in AR-PD families
PMID: 40959972
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜13
neurodegenerative diseaseOpen Targets
0.40Weak
neuroinflammatory disorderOpen Targets
0.34Weak
hyperpituitarismOpen Targets
0.14Weak
hepatocellular carcinomaOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
interstitial lung diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
gastric adenocarcinomaOpen Targets
0.00Suggestive
Insulin resistanceOpen Targets
0.00Suggestive
oligodendrogliomaOpen Targets
0.00Suggestive
spina bifidaOpen Targets
0.00Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PPP1R3BProtein interaction96%GYS1Protein interaction94%GYS2Protein interaction94%PPP1CBProtein interaction94%PPP1CCProtein interaction94%PPP1R3AProtein interaction78%
Tissue Expression6 tissues
Ovary
100%
Liver
76%
Brain
60%
Bone Marrow
52%
Lung
43%
Heart
35%
Gene Interaction Network
Click a node to explore
PPP1R3EPPP1R3BGYS1GYS2PPP1CBPPP1CCPPP1R3A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9H7J1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.65 [1.13–1.95]
RankingsWhere PPP1R3E stands among ~20K protein-coding genes
  • #16,542of 20,598
    Most Researched12
  • #17,666of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedPPP1R3E
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Expanding the Autosomal Recessive Gene Spectrum of Parkinson's Disease: A Study within the CPD10KGP.
PMID: 40959972
Mov Disord Β· 2025
1.00
2
A novel glycogen-targeting subunit of protein phosphatase 1 that is regulated by insulin and shows differential tissue distribution in humans and rodents.
PMID: 15752363
FEBS J Β· 2005
0.50