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

Homo sapiens

Also known as BDP; PTMP; PP2Cm; MSUDMV; PP2Ckappa; UG0882E07

Gene ID: 152926 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_152542.5	NP_689755.3	protein phosphatase 1K, mitochondrial

PPM1K Protein Structure

PP2C

0
100
200
300
372 a.a.

Protein Preferred Names

Protein Names

protein phosphatase 1K, mitochondrial

PP2C domain-containing protein phosphatase 1K

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10968	PPM1K Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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