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Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 [ Mus musculus (house mouse) ]

Gene ID: 381511, updated on 16-Apr-2024

Summary

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Official Symbol
Pdp1provided by MGI
Official Full Name
pyruvate dehydrogenase phosphatase catalytic subunit 1provided by MGI
Primary source
MGI:MGI:2685870
See related
Ensembl:ENSMUSG00000049225 AllianceGenome:MGI:2685870
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
Ppm2c; Gm1024
Summary
Predicted to enable metal ion binding activity and phosphoprotein phosphatase activity. Predicted to be involved in peptidyl-threonine dephosphorylation and positive regulation of pyruvate dehydrogenase activity. Located in mitochondrion. Human ortholog(s) of this gene implicated in obesity and pyruvate decarboxylase deficiency. Orthologous to human PDP1 (pyruvate dehydrogenase phosphatase catalytic subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in cortex adult (RPKM 14.0), frontal lobe adult (RPKM 11.0) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Pdp1 in Genome Data Viewer
Location:
4 A1; 4 5.48 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (11958183..11966450, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (11958183..11966450, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene VISTA enhancer mm1633 Neighboring gene cadherin 17 Neighboring gene STARR-seq mESC enhancer starr_09605 Neighboring gene STARR-seq mESC enhancer starr_09606 Neighboring gene predicted gene, 54235 Neighboring gene RIKEN cDNA 1700123M08 gene Neighboring gene STARR-positive B cell enhancer ABC_E1271 Neighboring gene predicted gene, 42255

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Mitochondrial pyruvate dehydrogenase phosphatase 1 regulates the early differentiation of cardiomyocytes from mouse embryonic stem cells. Heo HJ, et al. Exp Mol Med, 2016 Aug 19. PMID 27538372, Free PMC Article
  2. Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells. Lu G, et al. J Clin Invest, 2009 Jun. PMID 19411760, Free PMC Article
  3. Tyr phosphorylation of PDP1 toggles recruitment between ACAT1 and SIRT3 to regulate the pyruvate dehydrogenase complex. Fan J, et al. Mol Cell, 2014 Feb 20. PMID 24486017, Free PMC Article
  4. Transcriptome analysis of mouse stem cells and early embryos. Sharov AA, et al. PLoS Biol, 2003 Dec. PMID 14691545, Free PMC Article
  5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1).
    Title: Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1).
  2. Mitochondrial PDP1 is a potential regulator that controls cardiac differentiation at an early differentiation stage in mouse embryonic stem cells.
    Title: Mitochondrial pyruvate dehydrogenase phosphatase 1 regulates the early differentiation of cardiomyocytes from mouse embryonic stem cells.
  3. defects in PP2Cm may be responsible for a subset of human maple syrup urine disease
    Title: Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
enables [pyruvate dehydrogenase (lipoamide)] phosphatase regulator activity IEA
Inferred from Electronic Annotation
more info
  
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables cation binding IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in peptidyl-threonine dephosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in mitochondrion HDA 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
[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial
Names
PDP 1
PDPC 1
protein phosphatase 2C, magnesium dependent, catalytic subunit
pyruvate dehydrogenase phosphatase isoenzyme 2
pyruvate dehyrogenase phosphatase catalytic subunit 1
NP_001028625.1
NP_001091700.1
NP_001091701.1
NP_001277316.1
NP_001277320.1

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)

  1. NM_001033453.3 → NP_001028625.1  [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001028625.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region and initiates translation at a downstream start codon, compared to variant 4. It encodes isoform c, which has a shorter N-terminus, compared to isoform d.
    Source sequence(s)
    AK133542, AK137550, BB077113, BY101287
    Consensus CDS
    CCDS38694.1
    UniProtKB/Swiss-Prot
    Q3UV70
    UniProtKB/TrEMBL
    A8Y5Q1, Q05BF9
    Related
    ENSMUSP00000103932.3, ENSMUST00000108297.3
    Conserved Domains (1) summary
    cd00143
    Location:109 → 525
    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 ...

  2. NM_001098230.1 → NP_001091700.1  [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001091700.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region and initiates translation at an alternate start codon, compared to variant 4. Variants 2 and 5 encode the same isoform (b), which has a shorter and distinct N-terminus, compared to isoform d.
    Source sequence(s)
    AK133542, AK137550, BB077113, BB611000, BY101287
    Consensus CDS
    CCDS51121.1
    UniProtKB/TrEMBL
    A2AJP9, Q05BF9
    Related
    ENSMUSP00000103934.2, ENSMUST00000108299.2
    Conserved Domains (1) summary
    cd00143
    Location:134 → 550
    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 ...

  3. NM_001098231.1 → NP_001091701.1  [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_001091701.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and the 5' coding region and initiates translation at an alternate start codon, compared to variant 4. It encodes isoform a, which is shorter and has a distinct N-terminus, compared to isoform d.
    Source sequence(s)
    AK133542, AK137550, BB077113, CN665886
    UniProtKB/TrEMBL
    A2AJQ0
    Related
    ENSMUSP00000103936.2, ENSMUST00000108301.8
    Conserved Domains (1) summary
    cd00143
    Location:145 → 561
    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 ...

  4. NM_001290387.1 → NP_001277316.1  [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (d).
    Source sequence(s)
    AK133542, AK137550, BB678668, CJ143773
    Consensus CDS
    CCDS71345.1
    UniProtKB/TrEMBL
    A8Y5Q0, Q05BF9
    Related
    ENSMUSP00000103937.2, ENSMUST00000108302.8
    Conserved Domains (1) summary
    cd00143
    Location:149 → 565
    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 ...

  5. NM_001290391.1 → NP_001277320.1  [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001277320.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and the 5' coding region and initiates translation at an alternate start codon, compared to variant 4. Variants 2 and 5 encode the same isoform (b), which has a shorter and distinct N-terminus, compared to isoform d.
    Source sequence(s)
    AK133542, AK137550, BB678668, CJ143773, CJ147172
    Consensus CDS
    CCDS51121.1
    UniProtKB/TrEMBL
    A2AJP9, Q05BF9
    Related
    ENSMUSP00000092766.4, ENSMUST00000095144.10
    Conserved Domains (1) summary
    cd00143
    Location:134 → 550
    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 ...

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

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    11958183..11966450 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3UV70.1 GenPept UniProtKB/Swiss-Prot:Q3UV70

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