PPM1J
Protein Phosphatase, Mg2+/Mn2+ Dependent 1J
Gene Information Card
| Symbol | PPM1J |
|---|---|
| Full Name | Protein Phosphatase, Mg2+/Mn2+ Dependent 1J |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 333926 ncbi.nlm.nih.gov/gene/333926 |
| Ensembl ID | ENSG00000187601 |
| UniProt ID | Q5JRX3 |
| OMIM ID | 617758 |
| HGNC ID | 28449 |
| Aliases | PP2C epsilon, PP2CE, PP2C-EPSILON |
Description
PPM1J encodes a member of the PPM family of serine/threonine phosphatases, which are dependent on magnesium or manganese ions. The protein is involved in the dephosphorylation of target proteins, potentially regulating cellular processes such as cell cycle and stress response. Its specific substrates and physiological roles are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations confirmed | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Low expression |
| K562 | 8.5 | 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 impact |
| c.200A>G (p.Asn67Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine phosphatase activity | • manganese ion binding |
| • magnesium ion binding | • dephosphorylation |
Pathways
• No specific pathways curated
Protein Summary
PPM1J is a 382-amino acid protein belonging to the PPM family of metal-dependent serine/threonine phosphatases. It contains a conserved PP2C catalytic domain and is predicted to localize to the cytoplasm. Its biological function remains largely uncharacterized, but it may play a role in cellular signaling through dephosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPM1J Knockout HEK293 Cell Line | EDJ-KQ14856 | Human | 333926 | Details Get a Quote |
| PPM1J Knockout HCT 116 Cell Line | EDJ-KQ45300 | Human | 333926 | Details Get a Quote |
| PPM1J Knockout HeLa Cell Line | EDJ-KQ59579 | Human | 333926 | Details Get a Quote |
| PPM1J Knockout A-549 Cell Line | EDJ-KQ68043 | Human | 333926 | Details Get a Quote |
| PPM1J Knockout HAP1 Cell Line | EDC08137 | Human | 333926 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
