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

    Gene ID: 381511, updated on 3-Nov-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; PDPC 1
    Summary
    Predicted to enable [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity; calcium ion binding activity; and magnesium ion binding activity. Predicted to be involved in peptidyl-threonine dephosphorylation and signal transduction. 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, Nov 2024]
    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 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. Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1). Liang Z, et al. J Biol Chem, 2024 Mar. PMID 38301889, Free PMC Article
    2. 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
    3. 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
    4. Atrial natriuretic peptide signaling co-regulates lipid metabolism and ventricular conduction system gene expression in the embryonic heart. Mishra A, et al. iScience, 2024 Jan 19. PMID 38235330, Free PMC Article
    5. 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

    See all (24) 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables magnesium ion binding ISO
    Inferred from Sequence Orthology
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction 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
    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_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_001033453.4 → 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

      Source sequence(s)
      AL772167
      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_001098230.2 → 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

      Source sequence(s)
      AL772167
      Consensus CDS
      CCDS51121.1
      UniProtKB/TrEMBL
      A2AJP9, A8Y5Q0
      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_001098231.2 → 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

      Source sequence(s)
      AL772167
      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_001290387.2 → NP_001277316.2  [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform c

      Status: VALIDATED

      Source sequence(s)
      AL772167
      Consensus CDS
      CCDS71345.1
      UniProtKB/Swiss-Prot
      Q3UV70
      UniProtKB/TrEMBL
      A8Y5Q1
      Related
      ENSMUSP00000103937.2, ENSMUST00000108302.8

    5. NM_001290391.2 → 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

      Source sequence(s)
      AL772167
      Consensus CDS
      CCDS51121.1
      UniProtKB/TrEMBL
      A2AJP9, A8Y5Q0
      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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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