PPM1F
Protein Phosphatase, Mg2+/Mn2+ Dependent 1F
Gene Information Card
| Symbol | PPM1F |
|---|---|
| Full Name | Protein Phosphatase, Mg2+/Mn2+ Dependent 1F |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.22 |
| NCBI Gene ID | 9647 ncbi.nlm.nih.gov/gene/9647 |
| Ensembl ID | ENSG00000100034 |
| UniProt ID | Q9UGI8 |
| OMIM ID | 606113 |
| HGNC ID | 9276 |
| Aliases | POPX2, CaMKPase, FEM-2 |
Description
PPM1F encodes a member of the PPM family of serine/threonine phosphatases, which are dependent on magnesium or manganese ions. The protein dephosphorylates and regulates several substrates, including CaMKII, PAK, and AMPK, thereby modulating cell cycle progression, actin cytoskeleton dynamics, and stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of PPM1F may promote tumor growth by dephosphorylating and inactivating tumor suppressors like PAK1. | PMID: 19029910 |
| Schizophrenia | Genetic variants in PPM1F have been associated with altered synaptic plasticity and increased risk. | PMID: 21743477 |
| Cardiac hypertrophy | PPM1F dephosphorylates AMPK, leading to impaired energy sensing and hypertrophic growth. | PMID: 23395173 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Liver | 5.2 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.5 | Moderate expression |
| MCF7 | 9.8 | Low expression |
| SH-SY5Y | 16.1 | High 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% (gnomAD) | May alter substrate specificity |
| c.457G>A (p.Glu153Lys) | Missense | 0.005% (gnomAD) | Potential loss of phosphatase activity |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Lys412Glufs*3) are predicted to truncate the protein, abolishing phosphatase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or databases.
Dominant Negative (DN)
Missense mutations in the catalytic domain may act as dominant-negative by competing with wild-type protein for substrates.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine phosphatase activity | • magnesium ion binding |
| • manganese ion binding | • regulation of cell cycle |
| • actin cytoskeleton organization | • stress-activated MAPK cascade |
Pathways
• AMPK signaling
• PAK signaling
• CaMKII signaling
Protein Summary
PPM1F is a 454-amino acid protein with a conserved PPM-type phosphatase domain. It localizes to the cytoplasm and nucleus, and its activity is regulated by metal ions. The protein plays key roles in cell migration, proliferation, and energy homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPM1F Knockout HEK293 Cell Line | EDJ-KQ6674 | Human | 9647 | Details Get a Quote |
| PPM1F Knockout A-549 Cell Line | EDJ-KQ30992 | Human | 9647 | Details Get a Quote |
| PPM1F Knockout HCT 116 Cell Line | EDJ-KQ30993 | Human | 9647 | Details Get a Quote |
| PPM1F Knockout HeLa Cell Line | EDJ-KQ29638 | Human | 9647 | Details Get a Quote |
