PPP1R3B
Protein Phosphatase 1 Regulatory Subunit 3B
Gene Information Card
| Symbol | PPP1R3B |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 3B |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 79660 ncbi.nlm.nih.gov/gene/79660 |
| Ensembl ID | ENSG00000104738 |
| UniProt ID | Q6XPS3 |
| OMIM ID | 610541 |
| HGNC ID | 14943 |
| Aliases | PPP1R3, PPP1R3B, PTG, R3B, GM |
Description
PPP1R3B encodes a regulatory subunit of protein phosphatase 1 (PP1), targeting PP1 to glycogen-associated substrates. It plays a critical role in glycogen metabolism by modulating glycogen synthase and phosphorylase activities. The gene is expressed in multiple tissues, with highest levels in skeletal muscle and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type XV | Loss-of-function mutations in PPP1R3B impair PP1 targeting to glycogen, leading to abnormal glycogen accumulation and myopathy. | OMIM #613507 |
| Type 2 diabetes | Variants in PPP1R3B are associated with altered glycogen synthesis and insulin resistance. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Liver | 15.2 | Medium |
| Heart | 12.1 | Medium |
| Brain | 2.3 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.4 | Hepatocyte model |
| C2C12 | 25.7 | Myoblast model |
| HEK293 | 3.2 | Low expression |
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 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000166 – nucleotide binding | • GO:0004864 – protein phosphatase inhibitor activity |
| • GO:0005977 – glycogen metabolic process | • GO:0008157 – protein phosphatase 1 binding |
| • GO:0016787 – hydrolase activity |
Pathways
• Glycogen metabolism (Reactome: R-HSA-70221)
• Insulin signaling (KEGG: hsa04910)
• PP1 regulatory network (Reactome: R-HSA-163125)
Protein Summary
PPP1R3B is a 284-amino acid protein that functions as a glycogen-targeting subunit of protein phosphatase 1 (PP1). It contains a carbohydrate-binding module that localizes PP1 to glycogen particles, regulating glycogen synthase and phosphorylase activities. The protein is essential for normal glycogen storage and glucose homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R3B Knockout HEK293 Cell Line | EDJ-KQ14857 | Human | 79660 | Details Get a Quote |
| PPP1R3B Knockout A-549 Cell Line | EDJ-KQ45301 | Human | 79660 | Details Get a Quote |
| PPP1R3B Knockout HCT 116 Cell Line | EDJ-KQ45302 | Human | 79660 | Details Get a Quote |
| PPP1R3B Knockout HeLa Cell Line | EDJ-KQ45303 | Human | 79660 | Details Get a Quote |
| PPP1R3B Knockout HAP1 Cell Line | EDC07976 | Human | 79660 | Details Get a Quote |
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