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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：蛋白磷酸酶，Mg2+/Mn2+ 依赖性 1D

种属: Homo sapiens

同用名: JDVS; WIP1; IDDGIP; PP2C-DELTA

基因 ID: 8493 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是 Ser/Thr 蛋白磷酸酶 PP2C 家族的成员。已知 PP2C 家族成员是细胞应激反应途径的负调节剂。该基因的表达以 p53 依赖性方式诱导，以响应各种环境压力。在被肿瘤抑制蛋白 TP53/p53 诱导的同时，这种磷酸酶负向调节 p38 MAP 激酶 MAPK/p38 的活性，从而降低 p53 的磷酸化，进而抑制 p53 介导的转录和细胞凋亡。因此，该磷酸酶介导 p38-p53 信号传导的反馈调节，有助于抑制生长和抑制应激诱导的细胞凋亡。该基因位于已知在乳腺癌中被扩增的染色体区域。已在乳腺癌细胞系和原发性乳腺肿瘤中检测到该基因的扩增，这表明该基因在癌症发展中的作用。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_003620.4 NP_003611.1 protein phosphatase 1D
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables mitogen-activated protein kinase binding IPI
IPI: 通过物理相互作用推断
21283629 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17936559 GOA
enables protein serine/threonine phosphatase activity IDA
IDA: 通过直接分析推断
20801214 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of gene expression, epigenetic IMP
IMP: 通过突变表型推断
23242139 GOA
involved in peptidyl-threonine dephosphorylation IDA
IDA: 通过直接分析推断
20801214 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
28343630 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28343630 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PPM1D 蛋白结构

PP2C

PP2C: Protein phosphatase 2C (67 - 368)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 605 a.a.
蛋白主名 其他名称

protein phosphatase 1D

protein phosphatase Wip1

PPM1D 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PPM1D O15297 MDM2 Homo sapiens Q00987
Phosphatase Assay
17936559
种属内
PPM1D O15297 MDM2 Homo sapiens Q00987
Anti Bait CoIP
17936559
种属内
PPM1D O15297 H2AX Homo sapiens P16104
Anti Tag CoIP
20118229
种属内
PPM1D O15297 H2AX Homo sapiens P16104
Phosphatase Assay
20118229
种属内
PPM1D O15297 RUNX2 Homo sapiens Q13950
Anti Tag CoIP
22065775
种属内
PPM1D O15297 RUNX2 Homo sapiens Q13950
Phosphatase Assay
22065775
种属内
PPM1D O15297 RUNX2 Homo sapiens Q13950
Anti Bait CoIP
22065775
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-15880 CCT007093 98.34% 否
HY-RS10962 PPM1D Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-164537 SPI-001 Inhibitor / 否

直系同源

种属 基因名 来源 基因 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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