PPM1L
Protein Phosphatase, Mg2+/Mn2+ Dependent 1L
Gene Information Card
| Symbol | PPM1L |
|---|---|
| Full Name | Protein Phosphatase, Mg2+/Mn2+ Dependent 1L |
| Gene Type | protein-coding |
| Chromosomal Location | 3q26.1 |
| NCBI Gene ID | 151742 ncbi.nlm.nih.gov/gene/151742 |
| Ensembl ID | ENSG00000163590 |
| UniProt ID | Q5SGD2 |
| OMIM ID | 617870 |
| HGNC ID | 28897 |
| Aliases | PP2C-eta, PP2Ceta, PP2C-epsilon, PP2Cepsilon |
Description
PPM1L encodes a member of the PP2C family of serine/threonine phosphatases. The encoded protein is magnesium/manganese-dependent and is involved in negative regulation of stress-activated MAP kinase signaling, including the p38 and JNK pathways. It also plays a role in ceramide trafficking and metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.0 | Low |
| Testis | 6.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Low |
| HeLa | 3.2 | Low |
| K562 | 2.8 | Low |
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 |
| c.200A>G (p.Asn67Ser) | missense | <0.01% | Unknown |
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 | • magnesium ion binding |
| • manganese ion binding | • negative regulation of JNK cascade |
| • negative regulation of p38MAPK cascade | • ceramide metabolic process |
Pathways
• MAPK signaling pathway
• Sphingolipid signaling pathway
Protein Summary
PPM1L is a 382-amino acid protein (UniProt Q5SGD2) belonging to the PP2C family. It contains a catalytic domain characteristic of Mg2+/Mn2+-dependent phosphatases. The protein localizes to the Golgi apparatus and regulates ceramide transport and stress signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPM1L Knockout HEK293 Cell Line | EDJ-KQ11351 | Human | 151742 | Details Get a Quote |
| PPM1L Knockout HCT 116 Cell Line | EDJ-KQ39525 | Human | 151742 | Details Get a Quote |
| PPM1L Knockout HeLa Cell Line | EDJ-KQ39526 | Human | 151742 | Details Get a Quote |
| PPM1L Knockout A-549 Cell Line | EDJ-KQ67176 | Human | 151742 | Details Get a Quote |
