PPM1E
Protein Phosphatase, Mg2+/Mn2+ Dependent 1E
Gene Information Card
| Symbol | PPM1E |
|---|---|
| Full Name | Protein Phosphatase, Mg2+/Mn2+ Dependent 1E |
| Gene Type | protein coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 22843 ncbi.nlm.nih.gov/gene/22843 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q8WY54 |
| OMIM ID | 611065 |
| HGNC ID | 30239 |
| Aliases | POPX1, PP2C-epsilon, PP2CE |
Description
PPM1E encodes a member of the PPM family of serine/threonine phosphatases that require Mg2+ or Mn2+ for activity. The protein contains a PP2C domain and negatively regulates AMPK signaling by dephosphorylating the AMPK alpha subunit at Thr172. It is involved in cell cycle control, cytoskeletal dynamics, and energy homeostasis. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PPM1E overexpression correlates with poor prognosis; may dephosphorylate AMPK promoting tumor growth | PMID: 25609832 |
| Colorectal cancer | Loss of PPM1E expression associated with metastasis and EMT via AMPK inactivation | PMID: 27323850 |
| Hepatocellular carcinoma | PPM1E downregulation linked to increased cell proliferation and migration | PMID: 29511379 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Skeletal muscle | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.8 | Embryonic kidney |
| HeLa | 11.2 | Cervical cancer |
| MCF7 | 9.5 | Breast cancer |
| HepG2 | 7.3 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% (gnomAD) | Unknown; located in PP2C domain |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% (gnomAD) | Unknown; may affect substrate binding |
| c.1789_1790insA (p.Thr597Asnfs*12) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the PP2C domain, abolishing phosphatase activity.
Gain of Function (GOF)
Not reported in literature or databases.
Dominant Negative (DN)
Not reported in literature or databases.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004722 – protein serine/threonine phosphatase activity | • GO:0005737 – cytoplasm |
| • GO:0005829 – cytosol | • GO:0006470 – protein dephosphorylation |
| • GO:0035556 – intracellular signal transduction | • GO:0046777 – protein autophosphorylation |
Pathways
• AMPK signaling pathway (Reactome: R-HSA-380972)
• Regulation of AMPK activity via dephosphorylation
Protein Summary
PPM1E is a 739-amino acid protein with a central PP2C domain (residues 310–590) that catalyzes Mg2+/Mn2+-dependent dephosphorylation. It localizes to the cytoplasm and cytosol. The protein negatively regulates AMPK by dephosphorylating Thr172 on the alpha subunit, thereby modulating energy sensing and cell growth. PPM1E also interacts with actin and may influence cytoskeletal organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPM1E Knockout HEK293 Cell Line | EDJ-KQ7692 | Human | 22843 | Details Get a Quote |
| PPM1E Knockout HeLa Cell Line | EDJ-KQ55643 | Human | 22843 | Details Get a Quote |
| PPM1E Knockout A-549 Cell Line | EDJ-KQ64141 | Human | 22843 | Details Get a Quote |
| PPM1E Knockout HCT 116 Cell Line | EDJ-KQ72589 | Human | 22843 | Details Get a Quote |
| PPM1E Knockout HAP1 Cell Line | EDC08044 | Human | 22843 | Details Get a Quote |
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