1. Gene
  2. PPM1A - protein phosphatase, Mg2+/Mn2+ dependent 1A Gene

PPM1A - protein phosphatase, Mg2+/Mn2+ dependent 1A Gene

中文名称:蛋白磷酸酶,Mg2+/Mn2+ 依赖性 1A

种属: Homo sapiens

同用名: PP2CA; PP2Calpha; PP2C-ALPHA

基因 ID: 5494 | 基因类型: protein coding

关于 PPM1A

Cytogenetic location: 14q23.1 Genomic coordinates (GRCh38): 14:60,245,750-60,299,087 (from NCBI)

This gene has 8 transcripts (splice variants), 249 orthologues and 16 paralogues. Ubiquitous expression in bone marrow (RPKM 10.2), brain (RPKM 9.4) 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。该磷酸酶使 MAP 激酶和 MAP 激酶激酶去磷酸化并负向调节其活性。它已被证明可以抑制由环境压力诱导的 p38 和 JNK 激酶级联反应的激活。这种磷酸酶还可以使细胞周期蛋白依赖性激酶去磷酸化,因此可能参与细胞周期控制。据报道,这种磷酸酶的过表达会激活肿瘤抑制基因 TP53/p53 的表达,从而导致 G2/M 细胞周期停滞和细胞凋亡。已经描述了编码不同同种型的三种可变剪接的转录物变体。[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. This Phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This Phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this Phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and Apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

PPM1A 基因产物(3)

mRNA Protein Name
NM_021003.5 NP_066283.1 protein phosphatase 1A isoform 1
NM_177951.3 NP_808820.1 protein phosphatase 1A isoform 2
NM_177952.3 NP_808821.2 protein phosphatase 1A isoform 3

PPM1A 蛋白结构

PP2C

PP2C: Protein phosphatase 2C (23 - 284)

PP2C_C

PP2C_C: Protein serine/threonine phosphatase 2C, C-terminal domain (285 - 364)

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  • 300
  • 382 a.a.
蛋白主名 其他名称

protein phosphatase 1A

重组 PPM1A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71227 PPM1A Protein, Human (His) P35813 (G2-W382) ≥95%

关联疾病

疾病名称 别名
Buschke-Ollendorff Syndrome

BOS

Dermatoosteopoikilosis

Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis

Osteopathia Condensans Disseminata

Dermatofibrosis Lenticularis Disseminata

Disseminated Dermatofibrosis With Osteopoikilosis

Dermatofibrosis, Disseminated, With Osteopoikilosis

Osteopoikilosis With Or Without Melorheostosis

Dermatofibrosis, Disseminated With Osteopoikilosis

Dermatofibrosis Disseminata Lenticularis

Isolated Osteopoikilosis

Osteopoikilosis, Isolated

Osteopoikilosis

Osteopathia Condensans Disseminata

Spotted Bones

Dermatofibrosis Lenticularis Disseminata

Melorheostosis

Candle Wax Disease

Flowing Hyperostosis

Hyperostosis, Monomelic

Leri Syndrome

Leri'S Disease

Melorheostoses

Melorheostosis Of Leri

Melorheostosis, Isolated

Periostitis

Monomelic

Rheostosis

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus PPM1A MGD MGI:99878
Canis familiaris PPM1A VGNC VGNC:44862
Felis catus PPM1A VGNC VGNC:68992
Macaca mulatta PPM1A VGNC VGNC:84422
Rattus norvegicus PPM1A RGD RGD:3373
Others PPM1A NCBI