PPM1D

Protein phosphatase 1D is an enzyme that in humans is encoded by the PPM1D gene.^[5][6]

AliasesPPM1D, PP2C-DELTA, WIP1, protein phosphatase, Mg2+/Mn2+ dependent 1D, IDDGIP, JDVS, WIP1 protein, human, PPM1D protein, human

External IDsOMIM: 605100; MGI: 1858214; HomoloGene: 31185; GeneCards: PPM1D; OMA:PPM1D - orthologs

Chr.Chromosome 17 (human)^[1]

End60,666,280 bp^[1]

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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)[1] Band 17q23.2 Start 60,600,193 bp[1] End 60,666,280 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 C|11 51.34 cM Start 85,202,070 bp[2] End 85,237,892 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 8493 53892 Ensembl ENSG00000170836 ENSMUSG00000020525 UniProt O15297 Q9QZ67 RefSeq (mRNA) NM_003620 NM_016910 RefSeq (protein) NP_003611 NP_058606 Location (UCSC) Chr 17: 60.6 – 60.67 Mb Chr 11: 85.2 – 85.24 Mb PubMed search [3] [4]
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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.^[6] Pathogenic variants in exons 5-6 in the PPM1D gene can cause the neurodevelopmental disorder known as Jansen-de Vries Syndrome (JdVS).^[7]