PPP1R3G
Protein Phosphatase 1 Regulatory Subunit 3G
Gene Information Card
| Symbol | PPP1R3G |
|---|---|
| Full Name | protein phosphatase 1 regulatory subunit 3G |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 648791 ncbi.nlm.nih.gov/gene/648791 |
| Ensembl ID | ENSG00000186462 |
| UniProt ID | Q6ZSY5 |
| OMIM ID | 617399 |
| HGNC ID | 33809 |
| Aliases | PPP1R3G, protein phosphatase 1, regulatory subunit 3G |
Description
PPP1R3G encodes a regulatory subunit of protein phosphatase 1 (PP1), which targets PP1 to glycogen and regulates glycogen metabolism. It is expressed in liver and muscle tissues and plays a role in glucose homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease | Potential dysregulation of glycogen metabolism | Inferred from function; no direct ClinVar entry |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Skeletal Muscle | 8.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte line |
| C2C12 | 9.8 | Myoblast line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not reported
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase 1 binding (GO:0008157) | • glycogen metabolic process (GO:0005977) |
| • cytosol (GO:0005829) |
Pathways
• Glycogen metabolism (Reactome: R-HSA-71387)
Protein Summary
PPP1R3G is a 317-amino acid protein that contains a glycogen-binding domain and a PP1-binding motif. It targets PP1 to glycogen particles, facilitating dephosphorylation of glycogen synthase and phosphorylase, thereby promoting glycogen synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R3G Knockout HEK293 Cell Line | EDJ-KQ10512 | Human | 648791 | Details Get a Quote |
| PPP1R3G Knockout HeLa Cell Line | EDJ-KQ60627 | Human | 648791 | Details Get a Quote |
| PPP1R3G Knockout A-549 Cell Line | EDJ-KQ69098 | Human | 648791 | Details Get a Quote |
| PPP1R3G Knockout HCT 116 Cell Line | EDJ-KQ77451 | Human | 648791 | Details Get a Quote |
