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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PPP1R3D
protein phosphatase 1 regulatory subunit 3D
Chromosome 20 · 20q13.33
NCBI Gene: 5509Ensembl: ENSG00000132825.7HGNC: HGNC:9294UniProt: O95685
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of glycogen biosynthetic processprotein phosphatase 1 bindingprotein phosphatase type 1 complexneurodegenerative diseaseadolescent idiopathic scoliosisalcohol drinkingfood allergy
✦AI Summary

PPP1R3D (protein phosphatase 1 regulatory subunit 3D) functions as a glycogen-targeting subunit that recruits protein phosphatase 1 (PP1) to glycogen particles, thereby regulating glycogen metabolism 1. The protein contains conserved functional domains: an N-terminal RVXF motif for PP1 binding, a C-terminal region (W267DNND) for substrate recognition, and a 14-3-3 binding site (RARS74LP) that negatively regulates its glycogenic activity 1. PPP1R3D promotes glycogen synthesis by dephosphorylating glycogen synthase and inhibiting glycogen phosphorylase 2. Its interaction with AMPK-β2 is dynamically regulated by intracellular glycogen content, linking energy metabolism sensing to glycogen homeostasis 3. Clinically, PPP1R3D relevance spans multiple pathologies. In Lafora disease, a fatal epilepsy characterized by pathological glycogen accumulation, PPP1R3D deficiency eliminates approximately 50% of neuronal Lafora bodies and 90% of cardiac Lafora bodies, suggesting therapeutic potential 2. During acute peanut allergic reactions, PPP1R3D is identified as a key driver gene modulating pro-inflammatory coexpression networks 4. PPP1R3D is also involved in metabolic responses to environmental toxins and stress: it is upregulated during noradrenaline-mediated stress responses in hippocampal astrocytes 5, differentially expressed in gestational PFBS exposure affecting glucose homeostasis 6, and associated with osteoarthritis pathogenesis 7. Additionally, PPP1R3D suppression by miR-4301 enhances rotavirus replication by reducing glycogen synthesis 8.

Sources cited
1
PPP1R3D structure and function: PP1 binding domain (RVXF motif), glycogenic substrate binding region, and 14-3-3 binding site regulating glycogenic activity
PMID: 26114292
2
PPP1R3D deficiency eliminates ~50% of neuronal and ~90% of cardiac Lafora bodies in a Lafora disease mouse model
PMID: 32892347
3
PPP1R3D (R6) interaction with AMPK-β2 is dynamically regulated by intracellular glycogen content and Thr-148 phosphorylation
PMID: 26831516
4
PPP1R3D is upregulated in astrocytes as a key target of locus coeruleus-noradrenaline system during stress responses
PMID: 38477670
5
miR-4301 targets PPP1R3D to suppress its expression, promoting rotavirus replication by reducing glycogen synthesis
PMID: 34260071
6
PPP1R3D identified as a key driver gene modulating pro-inflammatory coexpression networks during acute peanut allergic reactions
PMID: 29203772
7
PPP1R3D is differentially expressed in gestational PFBS exposure affecting glucose homeostasis and glucolipid metabolic pathways
PMID: 38728940
8
PPP1R3D identified as a key gene associated with osteoarthritis pathogenesis through machine learning analysis
PMID: 38767974
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
adolescent idiopathic scoliosisOpen Targets
0.13Weak
alcohol drinkingOpen Targets
0.13Weak
food allergyOpen Targets
0.10Weak
endocrine system diseaseOpen Targets
0.10Weak
pulmonary vascular congestionOpen Targets
0.10Suggestive
ulcerative colitisOpen Targets
0.10Suggestive
Myasthenia gravisOpen Targets
0.10Suggestive
systemic lupus erythematosusOpen Targets
0.06Suggestive
rheumatoid arthritisOpen Targets
0.06Suggestive
Abnormality of refractionOpen Targets
0.06Suggestive
arterial embolismOpen Targets
0.06Suggestive
Abnormal pupillary functionOpen Targets
0.05Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.04Suggestive
mathematical abilityOpen Targets
0.04Suggestive
cervical carcinomaOpen Targets
0.04Suggestive
nephrotic syndromeOpen Targets
0.03Suggestive
bilirubin metabolism diseaseOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
Lafora diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPP1R3GShared pathway100%PPP1R3AProtein interaction95%PPP1R3FProtein interaction95%GYS1Protein interaction92%GYS2Protein interaction92%PPP1CBProtein interaction92%
Tissue Expression6 tissues
Brain
100%
Heart
68%
Bone Marrow
44%
Lung
43%
Ovary
26%
Liver
8%
Gene Interaction Network
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PPP1R3DPPP1R3GPPP1R3APPP1R3FGYS1GYS2PPP1CB
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O95685
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.89 [1.31–1.97]
RankingsWhere PPP1R3D stands among ~20K protein-coding genes
  • #12,210of 20,598
    Most Researched29
  • #17,801of 17,882
    Most Constrained (LOEUF)1.97
Genes detectedPPP1R3D
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Noradrenaline release from the locus coeruleus shapes stress-induced hippocampal gene expression.
PMID: 38477670
Elife · 2024
1.00
2
Host miR-4301 promotes rotavirus replication via PPP1R3D in Caco-2 cells.
PMID: 34260071
J Med Virol · 2021
0.89
3
Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease.
PMID: 32892347
J Neurochem · 2021
0.78
4
Multi-omics reveal disturbance of glucose homeostasis in pregnant rats exposed to short-chain perfluorobutanesulfonic acid.
PMID: 38728940
Ecotoxicol Environ Saf · 2024
0.67
5
Integrative transcriptomic analysis reveals key drivers of acute peanut allergic reactions.
PMID: 29203772
Nat Commun · 2017
0.56