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GeneE
6 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.
PPP1R3F
protein phosphatase 1 regulatory subunit 3F
Chromosome X Β· Xp11.23
NCBI Gene: 89801Ensembl: ENSG00000049769.15HGNC: HGNC:14944UniProt: Q0D2I0
24PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of glycogen biosynthetic processregulation of glycogen (starch) synthase activityprotein phosphatase bindingglycogen bindingNeurodevelopmental disorderneurodegenerative diseaseIntellectual disabilityepilepsy
✦AI Summary

PPP1R3F encodes a glycogen-targeting subunit of protein phosphatase 1 (PP1) that regulates brain glucose homeostasis and neurological function 1. As a member of the glycogen targeting subunits (GTSs), PPP1R3F binds PP1 through a classical RVxF motif and localizes to the endoplasmic reticulum and membranes in brain astrocytes 2. The protein regulates glycogen synthase activity in response to glucose fluctuations and extracellular signals (adenosine, noradrenaline), maintaining steady brain glycogen levels under changing metabolic conditions 2. Hemizygous PPP1R3F variants cause X-linked neurodevelopmental disorder characterized by developmental delay, intellectual disability, autism spectrum disorder features, and seizures, with functional defects including impaired PP1 binding, protein instability, and abnormal glycogen metabolism regulation 1. Network analysis identifies PPP1R3F as a master transcriptional regulator in autism, affecting endocytosis pathways 3. Rare variants in PPP1R3F have been identified in autism spectrum disorder and schizophrenia cohorts, suggesting disease involvement in these neurodevelopmental conditions 4. Beyond neurology, PPP1R3F hypermethylation associates with increased colorectal cancer risk, particularly with dietary interactions 5.

Sources cited
1
Hemizygous PPP1R3F variants cause X-linked neurodevelopmental disorder with developmental delay, intellectual disability, autism, seizures; protein is expressed in brain astrocytes and localizes to endoplasmic reticulum; variants impair PP1 binding and glycogen metabolism regulation
PMID: 37531237
2
PPP1R3F encodes an 82.8 kDa glycogen-binding protein that binds PP1 through RVxF motif, localizes to membranes, regulates glycogen synthase in response to glucose deprivation and extracellular signals
PMID: 21668450
3
Network deconvolution analysis identifies PPP1R3F as a master transcriptional regulator in autism spectrum disorders affecting endocytosis pathway genes
PMID: 30016992
4
Rare damaging variants in PPP1R3F identified in autism spectrum disorder and schizophrenia cohorts through X-linked synaptic gene sequencing
PMID: 20479760
5
PPP1R3F hypermethylation associates with increased colorectal cancer risk, with synergistic interaction with fried food consumption
PMID: 34145793
Disease Associationsβ“˜20
Neurodevelopmental disorderOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Intellectual disabilityOpen Targets
0.37Weak
epilepsyOpen Targets
0.37Weak
colorectal carcinomaOpen Targets
0.06Suggestive
asthmaOpen Targets
0.03Suggestive
childhood onset asthmaOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
Global developmental delayOpen Targets
0.01Suggestive
autism spectrum disorderOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Neurodevelopmental delayOpen Targets
0.00Suggestive
autismOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants2
NM_033215.5(PPP1R3F):c.207_228del (p.Gly70fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 70
NM_033215.5(PPP1R3F):c.1257dup (p.Ser420fs)Likely pathogenic
PPP1R3F-related neurodevelopmental disorder
β˜…β˜†β˜†β˜†β†’ Residue 420
View on ClinVar β†—
Related Genes
PPP1R3GShared pathway100%PPP1CCProtein interaction96%PPP1R3AProtein interaction96%PPP1R3DProtein interaction95%PPP1CBProtein interaction94%GYS2Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Brain
88%
Ovary
48%
Lung
18%
Liver
18%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
PPP1R3FPPP1R3GPPP1CCPPP1R3APPP1R3DPPP1CBGYS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q0D2I0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.63LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.20 [0.89–1.63]
RankingsWhere PPP1R3F stands among ~20K protein-coding genes
  • #13,281of 20,598
    Most Researched24
  • #4,539of 5,498
    Most Pathogenic Variants2
  • #15,805of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedPPP1R3F
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
PMID: 37531237
Hum Mol Genet Β· 2023
1.00
2
Genetic and Epigenetic Association of
PMID: 39000267
Int J Mol Sci Β· 2024
0.83
3
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
PMID: 20479760
Mol Psychiatry Β· 2011
0.67
4
Transcriptional network analysis on brains reveals a potential regulatory role of PPP1R3F in autism spectrum disorders.
PMID: 30016992
BMC Res Notes Β· 2018
0.50
5
R3F, a novel membrane-associated glycogen targeting subunit of protein phosphatase 1 regulates glycogen synthase in astrocytoma cells in response to glucose and extracellular signals.
PMID: 21668450
J Neurochem Β· 2011
0.33