PPP1R3C: Protein Phosphatase 1 Regulatory Subunit 3C
A key regulator of glycogen metabolism and insulin signaling
Gene Information Card
| Symbol | PPP1R3C |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 3C |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 5507 ncbi.nlm.nih.gov/gene/5507 |
| Ensembl ID | ENSG00000119938 |
| UniProt ID | Q9UQK1 |
| OMIM ID | 600917 |
| HGNC ID | 9293 |
| Aliases | PPP1R5, PTG, GM, R5 |
Description
PPP1R3C encodes a regulatory subunit of protein phosphatase 1 (PP1). This protein targets PP1 to glycogen particles, facilitating glycogen synthesis and storage. It is highly expressed in skeletal muscle, heart, and liver, and plays a critical role in insulin-stimulated glycogen synthesis. Variants in this gene are associated with altered glycogen metabolism and insulin resistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type XV (GSD15) | Loss-of-function mutations in PPP1R3C impair PP1 targeting to glycogen, leading to reduced glycogen synthase activity and glycogen accumulation defects. | PMID: 22910219 |
| Type 2 diabetes (insulin resistance) | Reduced expression or function of PPP1R3C in muscle contributes to impaired insulin-stimulated glycogen synthesis, a hallmark of insulin resistance. | PMID: 10679457 |
| Obesity | Altered PPP1R3C expression in adipose tissue is linked to metabolic dysregulation and obesity. | PMID: 15677335 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 45.2 | High |
| Heart | 38.7 | High |
| Liver | 22.1 | Medium |
| Adipose tissue | 18.5 | Medium |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.4 | Hepatocellular carcinoma cell line |
| C2C12 | 28.9 | Mouse myoblast cell line |
| 3T3-L1 | 15.6 | Adipocyte cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.832C>T (p.Arg278*) | nonsense | <0.01% | Premature stop, loss of function |
| c.1045G>A (p.Gly349Arg) | missense | <0.01% | Impaired PP1 binding, reduced glycogen targeting |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg278*) lead to truncated protein lacking PP1-binding domain, impairing glycogen targeting.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Insulin signaling pathway (KEGG: hsa04910)
• Glycogen metabolism (Reactome: R-HSA-70221)
• PP1 regulatory network (Reactome: R-HSA-163560)
Protein Summary
PPP1R3C is a 317-amino acid protein that functions as a glycogen-targeting subunit of protein phosphatase 1 (PP1). It contains a PP1-binding motif and a carbohydrate-binding domain that anchors PP1 to glycogen particles. This interaction promotes dephosphorylation and activation of glycogen synthase, thereby stimulating glycogen synthesis. The protein is predominantly expressed in insulin-sensitive tissues such as skeletal muscle, heart, and liver. Dysregulation of PPP1R3C is implicated in glycogen storage diseases and insulin resistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R3C Knockout HEK293 Cell Line | EDJ-KQ5519 | Human | 5507 | Details Get a Quote |
| PPP1R3C Knockout A-549 Cell Line | EDJ-KQ28767 | Human | 5507 | Details Get a Quote |
| PPP1R3C Knockout HeLa Cell Line | EDJ-KQ28768 | Human | 5507 | Details Get a Quote |
| PPP1R3C Knockout HCT 116 Cell Line | EDJ-KQ71157 | Human | 5507 | Details Get a Quote |
