PPM1D - protein phosphatase, Mg2+/Mn2+ dependent 1D Gene

Homo sapiens

Also known as JDVS; WIP1; IDDGIP; PP2C-DELTA

Gene ID: 8493 | Gene type: protein coding

About PPM1D

Cytogenetic location: 17q23.2 Genomic coordinates (GRCh38): 17:60,600,193-60,666,280 (from NCBI)

This gene has 13 transcripts (splice variants), 274 orthologues, 16 paralogues and is associated with 83 phenotypes. Ubiquitous expression in testis (RPKM 7.0), ovary (RPKM 5.5) and 25 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

PPM1D Products(1)

mRNA	Protein	Name
NM_003620.4	NP_003611.1	protein phosphatase 1D

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables mitogen-activated protein kinase binding	IPI IPI: Inferred from physical interaction	21283629	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17936559	GOA
enables protein serine/threonine phosphatase activity	IDA IDA: Inferred from direct assay	20801214	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of gene expression, epigenetic	IMP IMP: Inferred from mutant phenotype	23242139	GOA
involved in peptidyl-threonine dephosphorylation	IDA IDA: Inferred from direct assay	20801214	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	28343630	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28343630	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPM1D Protein Structure

PP2C

0
100
200
300
400
500
605 a.a.

Protein Preferred Names

Protein Names

protein phosphatase 1D

protein phosphatase Wip1

PPM1D Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PPM1D	O15297	MDM2	Homo sapiens	Q00987	Phosphatase Assay	17936559
Intra	PPM1D	O15297	MDM2	Homo sapiens	Q00987	Anti Bait CoIP	17936559
Intra	PPM1D	O15297	H2AX	Homo sapiens	P16104	Anti Tag CoIP	20118229
Intra	PPM1D	O15297	H2AX	Homo sapiens	P16104	Phosphatase Assay	20118229
Intra	PPM1D	O15297	RUNX2	Homo sapiens	Q13950	Anti Tag CoIP	22065775
Intra	PPM1D	O15297	RUNX2	Homo sapiens	Q13950	Phosphatase Assay	22065775
Intra	PPM1D	O15297	RUNX2	Homo sapiens	Q13950	Anti Bait CoIP	22065775

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Jansen-De Vries Syndrome

Jansen De Vries Syndrome	Intellectual Developmental Disorder With Gastrointestinal Difficulties And High Pain Threshold
JDVS	Intellectual Developmental Disorder With Gastrointestinal Difficulties And High Pain Threshold, Formerly
Iddgip, Formerly	Iddgip

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Hereditary Breast Cancer

Familial Breast Cancer	Familial Breast Carcinoma
Hereditary Breast Carcinoma

Ovarian Clear Cell Adenocarcinoma

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Adult Brain Stem Glioma

Adult Brainstem Neuroglial Tumor

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Adult Brainstem Astrocytoma

Adult Brain Stem Astrocytoma

Brain Stem Cancer

Brain Stem Neoplasms	Malignant Neoplasm Of Brain Stem
Malignant Neoplasm Of Brainstem	Neoplasm Of Adult Brain Stem
Neoplasm Of Brain Stem	Primary Brain Stem Neoplasm
Primary Brain Stem Tumor	Brain Stem Neoplasm
Brain Stem--Cancer	Brain Stem Neoplasms, Primary

Uterine Corpus Endometrial Carcinoma

Histone Mutated Tumor

Histone Mutated Tumour

Diffuse Midline Glioma, H3 K27m-Mutant

Diffuse Intrinsic Pontine Glioma	Dipg
Infiltrative Brainstem Glioma

Hematuria, Benign Familial

Benign Familial Hematuria	BFH
Thin Membrane Nephropathy	Tmn
Thin Basement Membrane Nephropathy	Thin-Basement-Membrane Nephropathy
Hematuria, Familial Benign	Hematuria Benign Familial
Hematuria, Benign, Familial	Thin Basement Membrane Disease

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni	Sbla Syndrome
LFS	Li-Fraumeni Familiar Cancer Susceptibility Syndrome
Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome	Lfs1
Li Fraumeni Syndrome	Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
Lfl	Sbla Syndrome Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15880	CCT007093		98.01%	Unkown
HY-RS10962	PPM1D Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-164537	SPI-001	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PPM1D	VGNC	VGNC:44864
Felis catus	PPM1D	VGNC	VGNC:68994
Mus musculus	PPM1D	MGD	MGI:1858214
Rattus norvegicus	PPM1D	RGD	RGD:1305460
Bos taurus	PPM1D	VGNC	VGNC:33210
Macaca mulatta	PPM1D	VGNC	VGNC:76242

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