PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17)
A regulatory subunit of protein phosphatase 1 involved in cell cycle control and neuronal function
Gene Information Card
| Symbol | PPP1R17 |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 10842 ncbi.nlm.nih.gov/gene/10842 |
| Ensembl ID | ENSG00000146540 |
| UniProt ID | Q96QC0 |
| OMIM ID | 610542 |
| HGNC ID | 24617 |
| Aliases | C7orf6, G5PR |
Description
PPP1R17 encodes a regulatory subunit of protein phosphatase 1 (PP1). It targets PP1 to specific substrates, modulating dephosphorylation events critical for cell cycle progression, particularly during mitosis. The protein is also implicated in B-cell development and neuronal signaling. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of PP1 targeting may alter cell cycle checkpoints, promoting uncontrolled proliferation. | COSMIC; literature review |
| B-cell lymphoproliferative disorders | G5PR (PPP1R17) is involved in B-cell receptor signaling and apoptosis; mutations may disrupt B-cell homeostasis. | OMIM #610542; PubMed studies |
| Neurodevelopmental disorders | Altered PP1 activity in neurons may affect synaptic plasticity and cognitive function. | ClinVar; limited case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cortex) | 8.5 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.3 | Low |
| Bone marrow | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney; moderate expression |
| K562 | 9.5 | Leukemia; low expression |
| HeLa | 7.8 | Cervical cancer; low expression |
| HepG2 | 6.2 | Liver cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Trp) | Missense | <0.01% (gnomAD) | Unknown; predicted damaging by SIFT |
| c.389G>A (p.Arg130His) | Missense | <0.01% (gnomAD) | Unknown; predicted benign |
| c.502_504del (p.Lys168del) | In-frame deletion | Rare | May alter PP1 binding |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase regulator activity | • protein phosphatase 1 binding |
| • regulation of cell cycle | • dephosphorylation |
| • mitotic cell cycle |
Pathways
• Protein phosphatase 1 regulatory network
• Cell cycle
• mitotic
Protein Summary
PPP1R17 is a 168-amino acid protein that functions as a regulatory subunit of protein phosphatase 1 (PP1). It contains a PP1-binding motif (RVxF) and directs PP1 to specific substrates involved in cell cycle control, particularly during mitosis. The protein is expressed in testis, brain, and lymphoid tissues. Its role in B-cell development suggests involvement in immune regulation. Mutations are rare and largely uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R17 Knockout HEK293 Cell Line | EDJ-KQ7188 | Human | 10842 | Details Get a Quote |
| PPP1R17 Knockout HeLa Cell Line | EDJ-KQ55498 | Human | 10842 | Details Get a Quote |
| PPP1R17 Knockout A-549 Cell Line | EDJ-KQ63987 | Human | 10842 | Details Get a Quote |
| PPP1R17 Knockout HCT 116 Cell Line | EDJ-KQ72438 | Human | 10842 | Details Get a Quote |
