1. Gene
  2. PPM1K - protein phosphatase, Mg2+/Mn2+ dependent 1K Gene

PPM1K - protein phosphatase, Mg2+/Mn2+ dependent 1K Gene

中文名称:蛋白磷酸酶,Mg2+/Mn2+ 依赖性 1K

种属: Homo sapiens

同用名: BDP; PTMP; PP2Cm; MSUDMV; PP2Ckappa; UG0882E07

基因 ID: 152926 | 基因类型: protein coding

关于 PPM1K

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:88,257,620-88,284,561 (from NCBI)

This gene has 10 transcripts (splice variants), 257 orthologues, 16 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 22.0), endometrium (RPKM 10.0) and 22 other tissues.

功能概要

该基因编码 Mn2+/Mg2+ 依赖性蛋白磷酸酶的 PPM 家族成员。编码的蛋白质对细胞生存和发育至关重要,靶向线粒体,在调节线粒体通透性转换孔中起着关键作用。[RefSeq 提供,2012 年 9 月]

This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]

PPM1K 基因产物(1)

mRNA Protein Name
NM_152542.5 NP_689755.3 protein phosphatase 1K, mitochondrial
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables manganese ion binding IDA
IDA: 通过直接分析推断
22291014 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22291014 GOA
enables protein serine/threonine phosphatase activity IDA
IDA: 通过直接分析推断
17374715 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in branched-chain amino acid catabolic process IMP
IMP: 通过突变表型推断
29779826 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

PPM1K 蛋白结构

PP2C

PP2C: Protein phosphatase 2C (115 - 338)

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

protein phosphatase 1K, mitochondrial

PP2C domain-containing protein phosphatase 1K

PPM1K 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
PPM1K Q8N3J5 UBXN11 Homo sapiens Q5T124-6 32296183
种属内
PPM1K Q8N3J5 UBXN11 Homo sapiens Q5T124-6 32296183
种属内
PPM1K Q8N3J5 BIRC2 Homo sapiens Q13490 32296183
种属内
PPM1K Q8N3J5 BIRC2 Homo sapiens Q13490 25416956
种属内
PPM1K Q8N3J5 BIRC2 Homo sapiens Q13490 25416956
种属内
PPM1K Q8N3J5 BIRC2 Homo sapiens Q13490 32296183
种属内
PPM1K Q8N3J5 XIAP Homo sapiens P98170 32296183
种属内
PPM1K Q8N3J5 XIAP Homo sapiens P98170 32296183
种属内
PPM1K Q8N3J5 HSF2BP Homo sapiens O75031 32296183
种属内
PPM1K Q8N3J5 HSF2BP Homo sapiens O75031 32296183
种属内
PPM1K Q8N3J5 MAGEA11 Homo sapiens P43364 32296183
种属内
PPM1K Q8N3J5 MAGEA11 Homo sapiens P43364 32296183
种属内
PPM1K Q8N3J5 NTAQ1 Homo sapiens Q96HA8 32296183
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
Maple Syrup Urine Disease, Mild Variant

MSUDMV

Intermediate Maple Syrup Urine Disease

Intermediate Bckd Deficiency

Intermediate Msud

Intermediate Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Maple Syrup Urine Disease

MSUD

Bckd Deficiency

Branched-Chain Ketoaciduria

Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

Keto Acid Decarboxylase Deficiency

Maple Syrup Urine Disease, Type Ii

Branched Chain Ketoaciduria

Classic Maple Syrup Urine Disease

Intermittent Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Ia

Ketoacidaemia

Bckdh Deficiency

Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

Thiamine-Responsive Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

Maple Syrup Urine Disease Type 1a

Maple Syrup Urine Disease Type 1b

Maple Syrup Urine Disease Type 2

Maple Syrup Urine Disease, Type Ib

Dihydrolipoamide Dehydrogenase Deficiency

Branched-Chain Ketoacid Dehydrogenase Deficiency

Maple Syrup Disease

Ketoacidemia

Classic Bckd Deficiency

Classic Msud

Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Classic Branched-Chain Ketoaciduria

Thiamine-Responsive Bckd Deficiency

Thiamine-Responsive Msud

Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Intermittent Bckd Deficiency

Intermittent Msud

Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Maple Syrup Urine Disease 1a

MSUD1A

Maple Syrup Urine Disease Type Ia

Msud Type Ia

Maple Syrup Urine Disease 1b

MSUD1B

Maple Syrup Urine Disease Type Ib

Msud Type Ib

Maple Syrup Urine Disease 2

MSUD2

Maple Syrup Urine Disease Type Ii

Msud Type Ii

Nadh Cytochrome B5 Reductase Deficiency

Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

Ketonemia

Maple Syrup Urine Disease, Type 1b

Ketoacid Decarboxylase Deficiency

Oxoacid Decarboxylase Deficiency

Branched Chain Ketoacid Dehydrogenase Deficiency

Msud - [Maple-Syrup-Urine Disease]

Ketoaminoacidaemia

Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

Maple-Syrup-Urine Disorder

Maple-Syrup-Urine Syndrome

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

BCKDKD

Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency

Bckdk Deficiency

Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency

Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic

Inflammatory Bowel Disease 3

IBD3

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
Felis catus PPM1K VGNC VGNC:79976
Mus musculus PPM1K MGD MGI:2442111
Bos taurus PPM1K VGNC VGNC:33215
Macaca mulatta PPM1K VGNC VGNC:76109
Canis familiaris PPM1K VGNC VGNC:44870
Rattus norvegicus PPM1K RGD RGD:1308501