1. Gene
  2. PPM1L - protein phosphatase, Mg2+/Mn2+ dependent 1L Gene

PPM1L - protein phosphatase, Mg2+/Mn2+ dependent 1L Gene

中文名称:蛋白磷酸酶,Mg2+/Mn2+ 依赖性 1L

种属: Homo sapiens

同用名: PP2CE; PPM1-LIKE; PP2C-epsilon

基因 ID: 151742 | 基因类型: protein coding

关于 PPM1L

Cytogenetic location: 3q25.33-q26.1 Genomic coordinates (GRCh38): 3:160,756,231-161,078,902 (from NCBI)

This gene has 5 transcripts (splice variants), 270 orthologues and 16 paralogues. Ubiquitous expression in brain (RPKM 9.7), thyroid (RPKM 6.9) and 24 other tissues.

功能概要

该基因编码的蛋白质是一种需要镁或锰的磷酸酶,参与多种信号通路。编码的蛋白质下调细胞凋亡信号调节激酶 1,这是一种在细胞受到细胞毒性应激时启动信号级联反应导致细胞凋亡的蛋白质。这种蛋白质也是一种内质网跨膜蛋白,有助于调节从内质网到高尔基体的神经酰胺转运。最后,该基因可能与肥胖有关,因为它在脂肪组织中被上调。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2015 年 12 月]

The protein encoded by this gene is a magnesium or manganese-requiring Phosphatase that is involved in several signaling pathways. The encoded protein downregulates Apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to Apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

PPM1L 基因产物(3)

mRNA Protein Name
NM_001317911.2 NP_001304840.1 protein phosphatase 1L isoform 2
NM_001317912.2 NP_001304841.1 protein phosphatase 1L isoform 3
NM_139245.4 NP_640338.2 protein phosphatase 1L isoform 1

PPM1L 蛋白结构

PP2C

PP2C: Protein phosphatase 2C (94 - 344)

  • 0
  • 100
  • 200
  • 300
  • 360 a.a.
蛋白主名 其他名称

protein phosphatase 1L

PP2C epsilon

关联疾病

疾病名称 别名
Inflammatory Bowel Disease 3

IBD3

Inflammatory Bowel Disease 6

IBD6

Inflammatory Bowel Disease 1

Inflammatory Bowel Disease 1

IBD1

Crohn Disease-Associated Growth Failure

Crohn Disease

Regional Enteritis

Ulcerative Colitis

Crohn Disease-Associated Growth Failure, Susceptibility To

Inflammatory Bowel Disease 1, Crohn Disease

Bowel Disease, Inflammatory, Type 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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PPM1L RGD RGD:1305220
Macaca mulatta PPM1L VGNC VGNC:76265
Canis familiaris PPM1L VGNC VGNC:44871
Felis catus PPM1L VGNC VGNC:64314
Bos taurus PPM1L VGNC VGNC:33216
Mus musculus PPM1L MGD MGI:2139740