Ppm1k protein phosphatase 1K (PP2C domain containing) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ppm1kprovided by MGI
Official Full Name: protein phosphatase 1K (PP2C domain containing)provided by MGI
Primary source: MGI:MGI:2442111
See related: Ensembl:ENSMUSG00000037826 AllianceGenome:MGI:2442111
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BDP; BCKDH; PP2Cm; PP2C-kappa; 2900063A19Rik; A930026L03Rik
Summary: Predicted to enable manganese ion binding activity and protein serine/threonine phosphatase activity. Involved in regulation of mitochondrial membrane permeability involved in apoptotic process. Located in mitochondrial matrix. Is expressed in several structures, including diaphragm; gut; liver; lung; and spleen. Used to study maple syrup urine disease. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human PPM1K (protein phosphatase, Mg2+/Mn2+ dependent 1K). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in heart adult (RPKM 7.4), cortex adult (RPKM 7.1) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 B3; 6 27.82 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (57483487..57512537, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (57506502..57535552, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-743b-3p promotes hepatic lipogenesis via branched-chain amino acids (BCAA) metabolism by targeting PPM1K in aged mice.
Title: miR-743b-3p promotes hepatic lipogenesis via branched-chain amino acids (BCAA) metabolism by targeting PPM1K in aged mice.
PPM1K mediates metabolic disorder of branched-chain amino acid and regulates cerebral ischemia-reperfusion injury by activating ferroptosis in neurons.
Title: PPM1K mediates metabolic disorder of branched-chain amino acid and regulates cerebral ischemia-reperfusion injury by activating ferroptosis in neurons.
PPM1K-regulated impaired catabolism of branched-chain amino acids orchestrates polycystic ovary syndrome.
Title: PPM1K-regulated impaired catabolism of branched-chain amino acids orchestrates polycystic ovary syndrome.
PP2Cm overexpression alleviates MI/R injury mediated by a BCAA catabolism defect and oxidative stress in diabetic mice
Title: PP2Cm overexpression alleviates MI/R injury mediated by a BCAA catabolism defect and oxidative stress in diabetic mice.
PPM1K Regulates Hematopoiesis and Leukemogenesis through CDC20-Mediated Ubiquitination of MEIS1 and p21.
Title: PPM1K Regulates Hematopoiesis and Leukemogenesis through CDC20-Mediated Ubiquitination of MEIS1 and p21.
Data show that show that PP2Cm expression is highly enriched in brain, liver, kidney, but low in skeletal muscle.
Title: Tissue-specific and nutrient regulation of the branched-chain α-keto acid dehydrogenase phosphatase, protein phosphatase 2Cm (PP2Cm).

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables [3-methyl-2-oxobutanoate dehydrogenase (lipoamide)]-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	ISO Inferred from Sequence Orthology more info
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine phosphatase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in branched-chain amino acid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in branched-chain amino acid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein dephosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrial membrane permeability involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein phosphatase Mn(2+)-dependent 1K

Names: [3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)]-phosphatase; branched-chain alpha-ketoacid dehydrogenase phosphatase; protein phosphatase 1K, mitochondrial; protein phosphatase 2C family member

NP_780732.1

EC 3.1.3.16

EC 3.1.3.52

XP_006506145.1

EC 3.1.3.16

EC 3.1.3.52

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_175523.5 → NP_780732.1 protein phosphatase Mn(2+)-dependent 1K precursor

See identical proteins and their annotated locations for NP_780732.1

Status: VALIDATED

Source sequence(s)

AC125121

Consensus CDS

CCDS20183.1

UniProtKB/Swiss-Prot

Q8BXN7

UniProtKB/TrEMBL

B9EHW0

Related

ENSMUSP00000041395.4, ENSMUST00000042766.6

Conserved Domains (1) summary

cd00143
Location:95 → 346

PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

RNA

NR_156743.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC125121
NR_156744.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC125121
NR_156745.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC125121
NR_156746.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC125121

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

57483487..57512537 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006506082.5 → XP_006506145.1 protein phosphatase Mn(2+)-dependent 1K isoform X1

Conserved Domains (1) summary

cl00120
Location:95 → 182

PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...