PPP1R3D: Protein Phosphatase 1 Regulatory Subunit 3D
A key regulator of glycogen metabolism and insulin signaling
Gene Information Card
| Symbol | PPP1R3D |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 3D |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 5507 ncbi.nlm.nih.gov/gene/5507 |
| Ensembl ID | ENSG00000105568 |
| UniProt ID | Q14CX7 |
| OMIM ID | 603208 |
| HGNC ID | 9289 |
| Aliases | PPP1R3D, PTG, PPP1R3D_HUMAN |
Description
PPP1R3D encodes a regulatory subunit of protein phosphatase 1 (PP1), targeting PP1 to glycogen-associated substrates. It plays a critical role in glycogen synthesis and degradation, particularly in muscle and liver, and is implicated in insulin signaling and glucose homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type XV | Defective glycogen targeting leads to abnormal glycogen accumulation | OMIM #613507; ClinVar |
| Insulin resistance | Altered PP1 targeting impairs insulin-stimulated glycogen synthesis | PMID: 12368291 |
| Type 2 diabetes | Dysregulation of glycogen metabolism contributes to hyperglycemia | NCBI Gene review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 2.4 | Low |
| Adipose tissue | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte model |
| C2C12 | 15.8 | Myoblast model |
| HEK293 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | <0.01% | Reduced glycogen binding |
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Impaired PP1 interaction |
| c.456delC | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense mutations that disrupt glycogen targeting or PP1 binding lead to loss of function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000166~nucleotide binding | • GO:0002009~morphogenesis of an epithelium |
| • GO:0005515~protein binding | • GO:0005977~glycogen metabolic process |
| • GO:0005978~glycogen biosynthetic process | • GO:0005980~glycogen catabolic process |
| • GO:0008152~metabolic process | • GO:0016787~hydrolase activity |
| • GO:0030234~enzyme regulator activity | • GO:0043169~cation binding |
Pathways
• Glycogen metabolism (Reactome: R-HSA-71387)
• Insulin signaling (KEGG: hsa04910)
• PP1 regulation (Reactome: R-HSA-163615)
Protein Summary
PPP1R3D is a 317-amino acid protein that functions as a glycogen-targeting subunit of PP1. It contains a carbohydrate-binding module (CBM21) that mediates association with glycogen, and a PP1-binding motif that recruits the catalytic subunit. The protein is essential for coordinating glycogen synthesis and breakdown in response to insulin and energy demands.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R3D Knockout HEK293 Cell Line | EDJ-KQ50534 | Human | 5509 | Details Get a Quote |
| PPP1R3D Knockout HeLa Cell Line | EDJ-KQ54195 | Human | 5509 | Details Get a Quote |
| PPP1R3D Knockout A-549 Cell Line | EDJ-KQ62689 | Human | 5509 | Details Get a Quote |
| PPP1R3D Knockout HCT 116 Cell Line | EDJ-KQ71158 | Human | 5509 | Details Get a Quote |
| PPP1R3D Knockout HAP1 Cell Line | EDC08163 | Human | 5509 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
