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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPP1R13B
protein phosphatase 1 regulatory subunit 13B
Chromosome 14 · 14q32.33
NCBI Gene: 23368Ensembl: ENSG00000088808.19HGNC: HGNC:14950UniProt: Q96KQ4
84PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intrinsic apoptotic signaling pathway by p53 class mediatorprotein bindingcytosolnucleoplasmsubstance-related disorderschizophreniarisk-taking behaviourbenign neoplasm
✦AI Summary

PPP1R13B (also known as ASPP1) is a p53-binding protein that functions as a central regulator of apoptosis through enhancement of p53-mediated transactivation of proapoptotic genes 1. The protein enhances DNA binding and transactivation functions of p53 on promoters of proapoptotic target genes in vivo 1, and is preferentially expressed in hematopoietic stem cells where it preserves genomic integrity 1. Beyond canonical apoptotic functions, PPP1R13B exhibits context-dependent roles in disease pathogenesis. In acute myeloid leukemia, impaired PPP1R13B regulation contributes to leukemogenesis and therapy resistance, with promoter methylation linked to reduced expression 1. In silicosis, PPP1R13B promotes lung fibroblast proliferation and migration through endoplasmic reticulum stress and autophagy pathways 2. PPP1R13B expression in airway epithelial cells is associated with lung function in children, with genetic variants showing effects mediated by DNA methylation 3. Genetic studies identify PPP1R13B as a novel susceptibility locus for Alzheimer's disease 4 and autism spectrum disorder 5, suggesting broader roles in neurological function. These findings position PPP1R13B as both a potential prognostic biomarker and therapeutic target across multiple disease contexts.

Sources cited
1
PPP1R13B/ASPP1 enhances p53 transactivation of proapoptotic genes, is preferentially expressed in hematopoietic stem cells, and its dysfunction contributes to AML leukemogenesis and therapy resistance
PMID: 38195541
2
PPP1R13B promotes lung fibroblast proliferation and migration through endoplasmic reticulum stress and autophagy in silicosis
PMID: 30908929
3
PPP1R13B expression in airway epithelial cells is associated with lung function in children, with genetic effects mediated by DNA methylation
PMID: 36638096
4
PPP1R13B splicing variants are identified as novel susceptibility loci for Alzheimer's disease
PMID: 37354922
5
PPP1R13B is identified as a candidate gene for autism spectrum disorder with potentially pathogenic rare variants
PMID: 35190550
Disease Associationsⓘ20
substance-related disorderOpen Targets
0.38Weak
schizophreniaOpen Targets
0.37Weak
risk-taking behaviourOpen Targets
0.29Weak
benign neoplasmOpen Targets
0.28Weak
bipolar disorderOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.26Weak
anxiety disorderOpen Targets
0.26Weak
dysthymic disorderOpen Targets
0.25Weak
depressive disorderOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
major depressive disorderOpen Targets
0.25Weak
prostate carcinomaOpen Targets
0.15Weak
smoking cessationOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
myocardial infarctionOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TP53Protein interaction99%PPP1CAProtein interaction94%RASSF8Protein interaction92%RASSF7Protein interaction92%HIF1ANProtein interaction90%PPP1CCProtein interaction87%
Tissue Expression6 tissues
Heart
100%
Ovary
41%
Lung
38%
Liver
36%
Brain
24%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
PPP1R13BTP53PPP1CARASSF8RASSF7HIF1ANPPP1CC
PROTEIN STRUCTURE
Preparing viewer…
PDB6HL5 · 1.98 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.36 [0.28–0.47]
RankingsWhere PPP1R13B stands among ~20K protein-coding genes
  • #5,690of 20,598
    Most Researched84
  • #2,653of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedPPP1R13B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Evaluation of apoptosis stimulating protein of TP53-1 (ASPP1/PPP1R13B) to predict therapy resistance and overall survival in acute myeloid leukemia (AML).
PMID: 38195541
Cell Death Dis · 2024
1.00
2
CircRNA-012091/PPP1R13B-mediated Lung Fibrotic Response in Silicosis via Endoplasmic Reticulum Stress and Autophagy.
PMID: 30908929
Am J Respir Cell Mol Biol · 2019
0.90
3
A splicing transcriptome-wide association study identifies novel altered splicing for Alzheimer's disease susceptibility.
PMID: 37354922
Neurobiol Dis · 2023
0.80
4
Multi-omic association study identifies DNA methylation-mediated genotype and smoking exposure effects on lung function in children living in urban settings.
PMID: 36638096
PLoS Genet · 2023
0.70
5
In conversation with Xin Lu.
PMID: 33197146
FEBS J · 2020
0.60