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PPM1D

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(Redirected from PPM1D (gene))
PPM1D
Identifiers
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003620

NM_016910

RefSeq (protein)

NP_003611

NP_058606

Location (UCSC)Chr 17: 60.6 – 60.67 MbChr 11: 85.2 – 85.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

Interactions

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PPM1D has been shown to interact with CDC5L.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170836Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020525Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Fiscella M, Zhang H, Fan S, Sakaguchi K, Shen S, Mercer WE, Vande Woude GF, O'Connor PM, Appella E (July 1997). "Wip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent manner". Proc Natl Acad Sci U S A. 94 (12): 6048–53. Bibcode:1997PNAS...94.6048F. doi:10.1073/pnas.94.12.6048. PMC 20998. PMID 9177166.
  6. ^ a b "Entrez Gene: PPM1D protein phosphatase 1D magnesium-dependent, delta isoform".
  7. ^ Wojcik, Monica H; Srivastava, Siddharth; Agrawal, Pankaj B; Balci, Tugce B; Callewaert, Bert; Calvo, Pier Luigi; Carli, Diana; Caudle, Michelle; Colaiacovo, Samantha; Cross, Laura; Demetriou, Kalliope; Drazba, Katy; Dutra-Clarke, Marina; Edwards, Matthew; Genetti, Casie A (July 2023). "Jansen-DeVries Syndrome: Expansion of the PPM1D Clinical and Phenotypic Spectrum in 34 Families". American Journal of Medical Genetics. Part A. 191 (7): 1900–1910. doi:10.1002/ajmg.a.63226. ISSN 1552-4825. PMC 10330231. PMID 37183572.
  8. ^ Ajuh, P; Kuster B; Panov K; Zomerdijk J C; Mann M; Lamond A I (December 2000). "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry". EMBO J. 19 (23): 6569–81. doi:10.1093/emboj/19.23.6569. ISSN 0261-4189. PMC 305846. PMID 11101529.

Further reading

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