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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPP4R3A
protein phosphatase 4 regulatory subunit 3A
Chromosome 14 · 14q32.12
NCBI Gene: 55671Ensembl: ENSG00000100796.19HGNC: HGNC:20219UniProt: Q6IN85
79PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmnuclear speckcytosolDNA damage responsetype 2 diabetes mellitustesticular diseasealcohol drinkingneuroendocrine neoplasm
✦AI Summary

PPP4R3A (protein phosphatase 4 regulatory subunit 3A), also known as SMEK1, is a regulatory subunit of serine/threonine-protein phosphatase 4 that functions in multiple cellular processes. As part of the PPP4C-PPP4R2-PPP4R3A complex, it dephosphorylates gamma-H2AX (H2AX phosphorylated at Ser-140), playing a critical role in DNA double-strand break repair 1. Beyond DNA damage response, PPP4R3A regulates microtubule stability through interaction with kinesin family member 2A (Kif2a), facilitating axonal outgrowth and mitochondrial trafficking 2. The gene also functions as a nuclear chaperone for cleaved Wnt receptor Ryk, regulating cortical neurogenesis and neural cell fate determination 3. In metabolic regulation, SMEK1 controls glucose uptake and adipogenesis through AMPK signaling 4. Clinically, a protective variant (rs2273647-T) in PPP4R3A is associated with reduced Alzheimer's disease risk and slowed cognitive decline 1. PPP4R3A exhibits tumor suppressor properties in leukemia, where overexpression increases apoptosis and reduces cell survival 5. The protein's dysregulation occurs across multiple cancer types and neurodegenerative diseases, making it a potential therapeutic target.

Sources cited
1
PPP4R3A variant rs2273647-T protects against Alzheimer's disease risk, cognitive decline, and reduced glucose metabolism in posterior cingulate cortex
PMID: 29130521
2
SMEK1 (PPP4R3A) regulates microtubule stability through interaction with Kif2a, controlling axonal outgrowth and mitochondrial trafficking; deficiency causes tau hyperphosphorylation and neurodegeneration
PMID: 39206808
3
SMEK1/2 functions as nuclear chaperone for cleaved Ryk, regulating cortical neurogenesis and neural cell fate determination through chromatin recruitment
PMID: 29180410
4
SMEK1 ablation promotes glucose uptake and improves obesity-related metabolic dysfunction via AMPK signaling pathway and Glut4 transcription
PMID: 38568153
5
PPP4R3A/SMEK1 overexpression suppresses leukemic cell growth, increases apoptosis, and functions as a tumor suppressor by regulating multiple signaling pathways
PMID: 36731689
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.42Moderate
testicular diseaseOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.29Weak
neuroendocrine neoplasmOpen Targets
0.28Weak
adrenal gland hyperfunctionOpen Targets
0.27Weak
liver diseaseOpen Targets
0.23Weak
open-angle glaucomaOpen Targets
0.14Weak
ovarian dysfunctionOpen Targets
0.12Weak
neoplasmOpen Targets
0.08Suggestive
obesityOpen Targets
0.06Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
depressive disorderOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.04Suggestive
glaucomaOpen Targets
0.03Suggestive
thyroid cancerOpen Targets
0.03Suggestive
tauopathyOpen Targets
0.03Suggestive
carcinomaOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPP4R3BProtein interaction100%PTPAProtein interaction100%PPP4R1Protein interaction100%PPP4R3CProtein interaction99%PPP3CAProtein interaction96%PPP3CBProtein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
34%
Lung
32%
Ovary
30%
Brain
27%
Heart
24%
Gene Interaction Network
Click a node to explore
PPP4R3APPP4R3BPTPAPPP4R1PPP4R3CPPP3CAPPP3CB
PROTEIN STRUCTURE
Preparing viewer…
PDB6R8I · 1.52 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.10–0.26]
RankingsWhere PPP4R3A stands among ~20K protein-coding genes
  • #6,020of 20,598
    Most Researched79
  • #862of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedPPP4R3A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Loss of Smek1 Induces Tauopathy and Triggers Neurodegeneration by Regulating Microtubule Stability.
PMID: 39206808
Adv Sci (Weinh) · 2024
1.00
2
Bioinformatics Analysis of the Expression and Prognostic Significance of Transcription Factor YY1 in Gastric Cancer.
PMID: 40088083
Cancer Rep (Hoboken) · 2025
0.90
3
A variant in PPP4R3A protects against alzheimer-related metabolic decline.
PMID: 29130521
Ann Neurol · 2017
0.80
4
Smek1/2 is a nuclear chaperone and cofactor for cleaved Wnt receptor Ryk, regulating cortical neurogenesis.
PMID: 29180410
Proc Natl Acad Sci U S A · 2017
0.70
5
SMEK1 ablation promotes glucose uptake and improves obesity-related metabolic dysfunction via AMPK signaling pathway.
PMID: 38568153
Am J Physiol Endocrinol Metab · 2024
0.60