PPM1D

PPM1D
Identifiers
Aliases	PPM1D, PP2C-DELTA, WIP1, protein phosphatase, Mg2+/Mn2+ dependent 1D, IDDGIP, JDVS, WIP1 protein, human, PPM1D protein, human
External IDs	OMIM: 605100; MGI: 1858214; HomoloGene: 31185; GeneCards: PPM1D; OMA:PPM1D - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	60,666,280 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	85,237,892 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; amniotic fluid; ; ventricular zone; ; gonad; ; placenta; ; ganglionic eminence; ; mucosa of sigmoid colon; ; jejunal mucosa; ; germinal epithelium; ; Achilles tendon;
	Top expressed in
	seminiferous tubule; ; spermatid; ; genital tubercle; ; fetal liver hematopoietic progenitor cell; ; tail of embryo; ; spermatocyte; ; zygote; ; lobe of cerebellum; ; medial ganglionic eminence; ; cerebellar vermis;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein serine/threonine phosphatase activity; protein binding; catalytic activity; phosphoprotein phosphatase activity; hydrolase activity; metal ion binding; cation binding; mitogen-activated protein kinase binding; protein serine/threonine kinase activity;
Cellular component	nucleoplasm; nucleus; cytoplasm; cytosol;
Biological process	cellular response to starvation; cell cycle; response to radiation; protein dephosphorylation; G2/M transition of mitotic cell cycle; response to bacterium; peptidyl-threonine dephosphorylation; negative regulation of cell population proliferation; DNA methylation; transcription initiation from RNA polymerase II promoter; protein phosphorylation; negative regulation of gene expression, epigenetic; DNA damage response, signal transduction by p53 class mediator;
	Sources:Amigo / QuickGO
Orthologs
	8493
	53892
	ENSG00000170836
	ENSMUSG00000020525
	O15297
	Q9QZ67
	NM_003620
	NM_016910
	NP_003611
	NP_058606
	Wikidata
View/Edit Human	View/Edit Mouse

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).