PPP1R10: Protein Phosphatase 1 Regulatory Subunit 10
A key regulator of protein phosphatase 1 (PP1) involved in chromatin remodeling, cell cycle control, and tumor suppression.
Gene Information Card
| Symbol | PPP1R10 |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 5566 ncbi.nlm.nih.gov/gene/5566 |
| Ensembl ID | ENSG00000112182 |
| UniProt ID | Q96QC0 |
| OMIM ID | 603771 |
| HGNC ID | 9285 |
| Aliases | PNUTS, PP1R10, R111, FB19 |
Description
PPP1R10 (Protein Phosphatase 1 Regulatory Subunit 10), also known as PNUTS, encodes a nuclear protein that functions as a regulatory subunit of protein phosphatase 1 (PP1). It targets PP1 to specific substrates involved in chromatin remodeling, transcription regulation, DNA damage response, and cell cycle progression. PPP1R10 is implicated in tumor suppression and is frequently altered in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression and mutations in PPP1R10 disrupt PP1 targeting, affecting cell cycle and DNA repair pathways. | COSMIC, ClinVar |
| Lung cancer | Somatic mutations and copy number alterations in PPP1R10 are associated with tumor progression. | COSMIC |
| Colorectal cancer | PPP1R10 downregulation correlates with poor prognosis; loss of function may promote proliferation. | NCBI Gene, COSMIC |
| Hepatocellular carcinoma | PPP1R10 mutations and altered expression linked to PP1 dysregulation and genomic instability. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 5.3 | Low |
| Breast | 4.8 | Low |
| Colon | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | High expression |
| A549 | 9.8 | Medium expression |
| MCF7 | 7.4 | Medium expression |
| HepG2 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of PP1-binding domain |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.1% | Loss of function; premature termination |
| c.890A>G (p.Gln297Arg) | Missense | <0.1% | Unknown; possibly damaging (SIFT/PolyPhen) |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu190fs) lead to truncated or absent protein, impairing PP1 regulation and chromatin targeting.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PPP1R10.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in PPP1R10.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PP1 regulatory network
• Chromatin remodeling
• Cell cycle - G1/S transition
• DNA damage response
Protein Summary
PPP1R10 (PNUTS) is a 110 kDa nuclear protein that binds to protein phosphatase 1 (PP1) and directs its activity toward substrates involved in chromatin structure and transcription. It contains a PP1-binding motif (RVxF) and a zinc finger domain. The protein is ubiquitously expressed with highest levels in testis and brain. PPP1R10 plays a role in dephosphorylation of histone H3, regulation of RNA polymerase II, and maintenance of genomic stability. Mutations and altered expression are observed in multiple cancers, suggesting a tumor suppressor function.
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