PPP6R1
Protein Phosphatase 6 Regulatory Subunit 1
Gene Information Card
| Symbol | PPP6R1 |
|---|---|
| Full Name | Protein Phosphatase 6 Regulatory Subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 22870 ncbi.nlm.nih.gov/gene/22870 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q9UPN7 |
| OMIM ID | 610951 |
| HGNC ID | 30095 |
| Aliases | PP6R1, SAP190, SAPL |
Description
PPP6R1 encodes a regulatory subunit of protein phosphatase 6 (PP6), a serine/threonine phosphatase involved in cell cycle regulation, DNA damage response, and NF-kappaB signaling. The protein contains a SAP domain and interacts with the catalytic subunit of PP6 to modulate its activity and substrate specificity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Dysregulation of PP6 complex may alter cell cycle control and DNA repair | COSMIC; PMID: 25329329 |
| Lung cancer | PPP6R1 mutations found in lung adenocarcinoma samples | COSMIC; PMID: 22980975 |
| Colorectal cancer | Loss of PPP6R1 expression associated with tumor progression | COSMIC; PMID: 24651015 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.3 | Low |
| Colon | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | High expression |
| HeLa | 7.8 | Moderate expression |
| A549 | 6.5 | Moderate expression |
| MCF7 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.1% | Loss of function; truncation of regulatory subunit |
| c.782A>G (p.Glu261Gly) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
| c.1234_1235insA | Frameshift | <0.1% | Loss of function; frameshift leading to premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PPP6R1 are predicted to cause loss of function, impairing PP6 complex assembly and phosphatase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PPP6R1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PPP6R1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein phosphatase 6 (PP6) signaling
• DNA damage response
• NF-kappaB signaling
Protein Summary
PPP6R1 is a 1006-amino acid regulatory subunit of protein phosphatase 6 (PP6). It contains a SAP domain (residues 1-50) that mediates DNA binding and a PP6 catalytic subunit interaction region. The protein localizes to both nucleus and cytoplasm and is involved in regulating cell cycle progression, DNA repair, and inflammatory signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP6R1 Knockout HEK293 Cell Line | EDJ-KQ2366 | Human | 22870 | Details Get a Quote |
| PPP6R1 Knockout HeLa Cell Line | EDJ-KQ21495 | Human | 22870 | Details Get a Quote |
| PPP6R1 Knockout A-549 Cell Line | EDJ-KQ22814 | Human | 22870 | Details Get a Quote |
| PPP6R1 Knockout HCT 116 Cell Line | EDJ-KQ22815 | Human | 22870 | Details Get a Quote |
