PPP1R3E
Protein Phosphatase 1 Regulatory Subunit 3E
Gene Information Card
| Symbol | PPP1R3E |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 3E |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 343990 ncbi.nlm.nih.gov/gene/343990 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8WVM7 |
| OMIM ID | 614907 |
| HGNC ID | 21516 |
| Aliases | PPP1R3E, FLJ21062 |
Description
PPP1R3E encodes a regulatory subunit of protein phosphatase 1 (PP1), targeting the enzyme to glycogen-associated substrates. It is involved in glycogen metabolism and insulin signaling. The gene is located on chromosome 14q11.2 and is expressed in multiple tissues, with highest levels in skeletal muscle and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease (potential) | Dysregulation of PP1 targeting to glycogen may impair glycogen synthesis/degradation | Inferred from functional homology to other PPP1R3 family members (e.g., PPP1R3A, PPP1R3C) |
| Type 2 diabetes (susceptibility) | Altered glycogen synthase activation via PP1 targeting | Association studies in related PPP1R3 genes; limited direct evidence for PPP1R3E |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 3.1 | Low |
| Brain | 1.8 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.3 | Moderate expression |
| HEK293 | 3.8 | Moderate expression |
| HepG2 | 2.1 | Low expression |
| K562 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256G>A (p.Gly86Arg) | missense | <0.01% (gnomAD) | Unknown; predicted benign by in silico tools |
| c.487C>T (p.Arg163Trp) | missense | <0.01% (gnomAD) | Unknown; predicted possibly damaging by PolyPhen-2 |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase 1 binding (GO:0008157) | • glycogen metabolic process (GO:0005977) |
| • protein phosphatase type 1 complex (GO:0000164) | • cytoplasm (GO:0005737) |
Pathways
• Insulin signaling pathway (Reactome: R-HSA-422085)
• Glycogen metabolism (Reactome: R-HSA-8982491)
Protein Summary
PPP1R3E is a 112-amino acid protein that belongs to the PPP1R3 family of glycogen-targeting subunits. It binds protein phosphatase 1 (PP1) via a conserved RVxF motif and localizes the complex to glycogen particles. The protein is predicted to regulate glycogen synthase and phosphorylase activities, thereby modulating glycogen storage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R3E Knockout HEK293 Cell Line | EDJ-KQ10630 | Human | 90673 | Details Get a Quote |
| PPP1R3E Knockout A-549 Cell Line | EDJ-KQ38127 | Human | 90673 | Details Get a Quote |
| PPP1R3E Knockout HeLa Cell Line | EDJ-KQ38128 | Human | 90673 | Details Get a Quote |
| PPP1R3E Knockout HCT 116 Cell Line | EDJ-KQ36825 | Human | 90673 | Details Get a Quote |
