PPP1R3F
Protein Phosphatase 1 Regulatory Subunit 3F
Gene Information Card
| Symbol | PPP1R3F |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 3F |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 89801 ncbi.nlm.nih.gov/gene/89801 |
| Ensembl ID | ENSG00000101940 |
| UniProt ID | Q6ZSY5 |
| OMIM ID | 300792 |
| HGNC ID | 14943 |
| Aliases | PPP1R3F, PPP1R3F_v1, FLJ21079 |
Description
PPP1R3F encodes a regulatory subunit of protein phosphatase 1 (PP1), targeting the phosphatase to glycogen-associated substrates. It is involved in glycogen metabolism and insulin signaling. The gene is located on chromosome Xp11.23 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 PPP1R3A/B/C |
| Insulin resistance | Altered PP1 activity in glycogen metabolism contributes to insulin signaling defects | Inferred from pathway analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 3.1 | Low |
| Brain | 2.8 | Low |
| Kidney | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.4 | Moderate expression |
| HEK293 | 3.2 | Low expression |
| HepG2 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000166 - nucleotide binding | • GO:0004864 - protein phosphatase inhibitor activity |
| • GO:0005977 - glycogen metabolic process | • GO:0008152 - metabolic process |
| • GO:0016787 - hydrolase activity |
Pathways
• Insulin signaling pathway (Reactome: R-HSA-422085)
• Glycogen metabolism (Reactome: R-HSA-8982491)
Protein Summary
PPP1R3F is a 112-amino acid protein that functions as a regulatory subunit of protein phosphatase 1 (PP1). It contains a glycogen-binding domain that targets PP1 to glycogen particles, facilitating dephosphorylation of glycogen synthase and phosphorylase. This regulation is critical for controlling glycogen synthesis and breakdown in response to insulin and other signals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R3F Knockout HEK293 Cell Line | EDJ-KQ10514 | Human | 89801 | Details Get a Quote |
| PPP1R3F Knockout A-549 Cell Line | EDJ-KQ37921 | Human | 89801 | Details Get a Quote |
| PPP1R3F Knockout HeLa Cell Line | EDJ-KQ37922 | Human | 89801 | Details Get a Quote |
| PPP1R3F Knockout HCT 116 Cell Line | EDJ-KQ74657 | Human | 89801 | Details Get a Quote |
| PPP1R3F Knockout HAP1 Cell Line | EDC08183 | Human | 89801 | Details Get a Quote |
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