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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8493

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15880	CCT007093		98.34%	Unkown
HY-172609	SL-176		99.91%	Unkown
HY-173084	BRD6257		/	Unkown
HY-RS10962	PPM1D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17556	Ppm1d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24014	Ppm1d Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PPM1D	NCBI