PPP4R1
Protein Phosphatase 4 Regulatory Subunit 1
Gene Information Card
| Symbol | PPP4R1 |
|---|---|
| Full Name | Protein Phosphatase 4 Regulatory Subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.22 |
| NCBI Gene ID | 9989 ncbi.nlm.nih.gov/gene/9989 |
| Ensembl ID | ENSG00000101412 |
| UniProt ID | Q8TF05 |
| OMIM ID | 617430 |
| HGNC ID | 9320 |
| Aliases | PP4R1, KIAA1622, MGC138290 |
Description
PPP4R1 encodes a regulatory subunit of protein phosphatase 4 (PP4), a serine/threonine phosphatase involved in various cellular processes including DNA repair, cell cycle regulation, and apoptosis. The protein interacts with the catalytic subunit of PP4 to form a functional holoenzyme.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Dysregulation of PP4 complex may alter DNA repair pathways | COSMIC, ClinVar |
| Lung cancer | Somatic mutations and copy number alterations observed | COSMIC |
| Colorectal cancer | Potential role in cell cycle control | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.5 | Low |
| Breast | 5.2 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.1 | High expression |
| HeLa | 11.4 | Moderate expression |
| A549 | 9.8 | Moderate expression |
| MCF7 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% | Unknown |
| c.1240G>A (p.Val414Met) | Missense | 0.005% | Unknown |
| c.1456_1457del (p.Glu486fs) | Frameshift | 0.002% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu486fs) likely result in truncated protein and loss of regulatory function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase regulator activity | • protein binding |
| • cytoplasm | • nucleus |
| • protein phosphatase type 4 complex |
Pathways
• DNA repair
• Cell cycle
• Apoptosis
Protein Summary
PPP4R1 is a 797-amino acid regulatory subunit of protein phosphatase 4. It contains a PP4-specific domain and mediates substrate specificity and subcellular localization of the PP4 catalytic subunit. The protein is widely expressed and involved in DNA damage response and cell cycle progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP4R1 Knockout HEK293 Cell Line | EDJ-KQ6852 | Human | 9989 | Details Get a Quote |
| PPP4R1 Knockout HeLa Cell Line | EDJ-KQ30049 | Human | 9989 | Details Get a Quote |
| PPP4R1 Knockout A-549 Cell Line | EDJ-KQ31414 | Human | 9989 | Details Get a Quote |
| PPP4R1 Knockout HCT 116 Cell Line | EDJ-KQ31415 | Human | 9989 | Details Get a Quote |
