HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PPP1R8
protein phosphatase 1 regulatory subunit 8
Chromosome 1 · 1p35.3
NCBI Gene: 5511Ensembl: ENSG00000117751.19HGNC: HGNC:9296UniProt: Q12972
101PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
molecular function inhibitor activitynuclear speckprotein bindingnucleoplasmneurodegenerative diseaseneuroinflammatory disorderbreast cancerglioblastoma multiforme
✦AI Summary

PPP1R8 encodes a multifunctional protein with distinct isoform-specific activities. The predominant NIPP-1α isoform (351 amino acids) serves as a major nuclear regulatory subunit of protein phosphatase 1 (PP1), recruiting phosphoproteins for PP1-mediated dephosphorylation 1. In contrast, the NIPP-1γ isoform functions as an endoribonuclease, cleaving single-stranded RNA in AU-rich regions with 5'-phosphate terminus generation, potentially involved in mRNA splicing and decay 12. PP1:NIPP1 complexes regulate DNA double-strand break repair by controlling dephosphorylation of repair-related proteins; their overexpression impairs DSB repair capacity and causes replication stress through R-loop accumulation 3. Clinically, PPP1R8 demonstrates tumor relevance in glioblastoma, where elevated expression correlates with poor prognosis and immunosuppressive microenvironments; CRISPR-mediated knockout inhibits GBM cell proliferation and promotes apoptosis 4. PPP1R8 expression also correlates with cancer-associated cachexia in pancreatic cancer 5. The gene exhibits ubiquitous expression across cancer cell lines with occasional somatic mutations (2%), suggesting involvement in multistep carcinogenesis 6. Alternative splicing generates functionally distinct isoforms with tissue-specific expression patterns, enabling diverse regulatory roles in phosphatase signaling, RNA metabolism, and DNA repair.

Sources cited
1
PPP1R8 encodes NIPP-1 with four alternatively spliced isoforms; NIPP-1α is the predominant transcript encoding a 351-amino acid PP1 regulatory subunit; NIPP-1γ displays endoribonuclease activity
PMID: 10103062
2
Endoribonucleases including PPP1R8 isoforms play important roles in eukaryotic mRNA metabolism and turnover
PMID: 19968858
3
PP1:NIPP1 (PPP1R8) complexes regulate DNA double-strand break repair; overexpression impairs DSB repair capacity and causes replication stress through R-loop accumulation
PMID: 29898919
4
PPP1R8 is identified as a key tumorigenic gene in glioblastoma; elevated expression correlates with poor prognosis and immunosuppressive microenvironment; PPP1R8 knockout inhibits GBM cell proliferation and increases apoptosis
PMID: 40842996
5
PPP1R8 expression correlates with cancer weight loss in pancreatic ductal adenocarcinoma cachexia
PMID: 33923976
6
PPP1R8 shows ubiquitous expression in cancer cell lines with possible somatic mutations in 2% of cases, indicating involvement in multistep carcinogenesis
PMID: 11251179
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
neuroinflammatory disorderOpen Targets
0.23Weak
breast cancerOpen Targets
0.10Suggestive
glioblastoma multiformeOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
response to xenobiotic stimulusOpen Targets
0.04Suggestive
infectionOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.02Suggestive
gliomaOpen Targets
0.01Suggestive
amyotrophic lateral sclerosisOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
breast cystOpen Targets
0.01Suggestive
FibroadenomaOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBM26Shared pathway100%STK31Shared pathway100%RBM27Shared pathway100%ZC3H3Shared pathway100%DHX9Protein interaction100%RBM39Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
95%
Heart
71%
Ovary
54%
Lung
46%
Liver
41%
Gene Interaction Network
Click a node to explore
PPP1R8RBM26STK31RBM27ZC3H3DHX9RBM39
PROTEIN STRUCTURE
Preparing viewer…
PDB3V4Y · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.14 [0.07–0.33]
RankingsWhere PPP1R8 stands among ~20K protein-coding genes
  • #4,738of 20,598
    Most Researched101 · top quartile
  • #1,383of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedPPP1R8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Immune intrinsic escape signature stratifies prognosis, characterizes the tumor immune microenvironment, and identifies tumorigenic PPP1R8 in glioblastoma multiforme patients.
PMID: 40842996
Front Immunol · 2025
1.00
2
Profiling of Adipose and Skeletal Muscle in Human Pancreatic Cancer Cachexia Reveals Distinct Gene Profiles with Convergent Pathways.
PMID: 33923976
Cancers (Basel) · 2021
0.90
3
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
PMID: 36054313
Hum Mutat · 2022
0.80
4
Genetic alterations and expression of the protein phosphatase 1 genes in human cancers.
PMID: 11251179
Int J Oncol · 2001
0.70
5
Endoribonucleases--enzymes gaining spotlight in mRNA metabolism.
PMID: 19968858
FEBS J · 2010
0.60