Protein Phosphatase, Magnesium/Manganese-Dependent, 1D

Alternative Names

  • PPM1D
  • Protein Phosphatase, Magnesium-Dependent, 1D
  • Protein Phosphatase, Magnesium-Dependent, 1, Delta Isoform
  • Wildtype p53-Induced Phosphatase 1
  • WIP1

Associated Diseases

Jansen-De Vries Syndrome
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OMIM Number

605100

NCBI Gene ID

8493

Uniprot ID

O15297

Length

66,098 bases

No. of Exons

7

No. of isoforms

2

Protein Name

Protein phosphatase 1D

Molecular Mass

66675 Da

Amino Acid Count

605

Genomic Location

chr17:60,600,183-60,666,280

Gene Map Locus
17q23.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003620.4:c.275G>C Lebanonchr17:60600689Uncertain SignificanceBreast CancerNG_023265.1:g.5497G>C; NM_003620.4:c.275G>C ; NP_003611.1:p.Cys92Ser1335352449
NM_003620.4:c.939_940delSaudi ArabiaNC_000017.11:g.60648004_60648005delLikely PathogenicJansen-De Vries SyndromeNM_003620.4:c.939_940del; NP_003611.1:p.Ser313ArgfsTer28
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