PPM1D

Chr 17q23.3

protein phosphatase, Mg2+/Mn2+ dependent 1D

Aliases:: Wip1, PP2C-DELTA
MANE:: ENST00000305921.8

OMIM: 605100 ↗NCBI: 8493 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PPM1D · O15297

v62025-08-01

Predicted Aligned Error matrix for PPM1D — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.9/ 100

Low

605 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)9%
Low(50–70)6%
Very low(< 50)43%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial breast cancer
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited ovarian cancer (without breast cancer)

Disease associations (Open Targets)

intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
0.77
hereditary disease
0.53
neurodegenerative disease
0.51
hereditary breast carcinoma
0.51
Hereditary breast cancer
0.51
ovarian carcinoma
0.42
malignant glioma
0.37
syndromic intellectual disability
0.37
colorectal adenocarcinoma
0.37
essential thrombocythemia
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein phosphatase 1D

Involved in the negative regulation of p53 expression (PubMed:23242139). Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins (PubMed:15870257, PubMed:16311512). Mediates MAPK14 dephosphorylation and inactivation (PubMed:21283629). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity)