PPM1D
Sign in to saveAlso known as PP2C-DELTA, WIP1, protein phosphatase, Mg2+/Mn2+ dependent 1D, IDDGIP, JDVS, WIP1 protein, human, PPM1D protein, human
Protein phosphatase 1D is an enzyme that in humans is encoded by the PPM1D gene.
Gene data
PPM1D- Name
- protein phosphatase, Mg2+/Mn2+ dependent 1D
- Type
- protein-coding
- Position
- 60,599,735–60,666,293 (+)
- Aliases
- IDDGIP, JDVS, PP2C-DELTA, WIP1
- Ensembl
- ENSG00000170836
- RefSeq RNA
- NM_003620.4, XR_007065507.1, XR_008484956.1, XR_008484957.1, XR_934577.3
- RefSeq protein
- NP_003611.1
The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
protein phosphatase, Mg2+/Mn2+ dependent 1D
- Symbol
- PPM1D
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:60,599,735-60,666,293
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Research
612 papers- Gain-of-function PPM1D mutations attenuate ischemic stroke.Cell death and differentiation · 2025
- PPM1D activity promotes cellular transformation by preventing senescence and cell death.Oncogene · 2024
- PPM1D modulates hematopoietic cell fitness and response to DNA damage and is a therapeutic target in myeloid malignancy.Blood · 2023
- Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.American journal of medical genetics. Part A · 2023
- The role of the PPM1D gene in tumor pathogenesis.Biomeditsinskaia khimiia · 2025
via PubMed
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 31185
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/8493
- genomic end
- 58741849
- genomic start
- 60600193
- chromosome
- human chromosome 17
- cytogenetic location
- 17q23.2
- expressed in
- Achilles tendon
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- Interactions
- References
- Further reading
Protein phosphatase 1D is an enzyme that in humans is encoded by the PPM1D gene.
The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase (MAPK/p38) through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. Pathogenic variants in exons 5-6 in the PPM1D gene can cause the neurodevelopmental disorder known as Jansen-de Vries Syndrome (JdVS).
Excerpted from Wikipedia’s “PPM1D” article, available under the CC BY-SA 4.0 licence.