PPM1D (protein phosphatase, Mg2+/Mn2+ dependent 1D)
- symbol:
- PPM1D
- locus group:
- protein-coding gene
- location:
- 17q23.3
- gene_family:
- Protein phosphatases, Mg2+/Mn2+ dependent
- alias symbol:
- Wip1|PP2C-DELTA
- alias name:
- wild-type p53-induced phosphatase …
- entrez id:
- 8493
- ensembl gene id:
- ENSG00000170836
- ucsc gene id:
- uc002iyt.3
- refseq accession:
- NM_003620
- hgnc_id:
- HGNC:9277
- approved reserved:
- 1998-10-14
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]
由该基因编码的蛋白质是PP2C家族丝氨酸/苏氨酸蛋白磷酸酶的成员。 PP2C家族成员已知是细胞应激反应途径的负调节剂。该基因的表达是在p53依赖性方式响应于各种环境胁迫诱导。同时被诱导肿瘤抑制蛋白TP53 / p53基因，这种磷酸酶负调节的p38 MAP激酶，MAPK / p38的，通过它降低p53的磷酸化的活性，进而抑制p53介导的转录和细胞凋亡。因此，这种磷酸酶介导，有助于生长抑制和应激诱导细胞凋亡的抑制P38-p53信号的反馈调节。该基因位于已知在乳腺癌待扩增的染色体区域。该基因的扩增已经在两种乳腺癌细胞系和原发性乳腺肿瘤，这表明该基因在癌症发展中的作用被检测。 [由RefSeq的，2008年7月提供]
基因本体信息
PPM1D基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
PPM1D基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mammary Neoplasms | 0.131983168 | 8 | 0 | BeFree_CTD_human_LHGDN |
| Glioma | 0.120814326 | 3 | 0 | BeFree_CTD_human |
| Brain Stem Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Breast Carcinoma | 0.004614512 | 17 | 0 | BeFree |
| Malignant neoplasm of breast | 0.004614512 | 17 | 0 | BeFree |
| Medulloblastoma | 0.00408156 | 5 | 0 | BeFree_LHGDN |
| Stomach Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Carcinogenesis | 0.002714419 | 10 | 0 | BeFree |
| Ovarian Carcinoma | 0.002442977 | 9 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.002442977 | 9 | 0 | BeFree |
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