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Aliases for PDP1 Gene

Aliases for PDP1 Gene

  • Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 1 2 3
  • PPM2C 3 4 6
  • Protein Phosphatase 2C, Magnesium-Dependent, Catalytic Subunit 2 3
  • Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1 3 4
  • EC 4 63
  • PDPC 1 3 4
  • PDP 1 3 4
  • PDPC 3 6
  • PDP 3 4
  • [Pyruvate Dehydrogenase [Acetyl-Transferring]]-Phosphatase 1, Mitochondrial 3
  • Pyruvate Dehydrogenase (Lipoamide) Phosphatase-Phosphatase 3
  • Protein Phosphatase 2C 4
  • EC 3.1.3 63
  • PDP1 6
  • PDH 3

External Ids for PDP1 Gene

Previous HGNC Symbols for PDP1 Gene

  • PPM2C

Previous GeneCards Identifiers for PDP1 Gene

  • GC08P094999
  • GC08P090137
  • GC08P094870

Summaries for PDP1 Gene

Entrez Gene Summary for PDP1 Gene

  • Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

GeneCards Summary for PDP1 Gene

PDP1 (Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with PDP1 include pyruvate dehydrogenase phosphatase deficiency and pyruvate dehydrogenase e1-alpha deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include protein serine/threonine phosphatase activity and [pyruvate dehydrogenase (lipoamide)] phosphatase activity. An important paralog of this gene is PDP2.

UniProtKB/Swiss-Prot for PDP1 Gene

  • Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex.

Gene Wiki entry for PDP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDP1 Gene

Genomics for PDP1 Gene

Genomic Location for PDP1 Gene

93,857,807 bp from pter
93,926,068 bp from pter
68,262 bases
Plus strand

Genomic View for PDP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDP1 Gene

No data available for Regulatory Elements for PDP1 Gene

Proteins for PDP1 Gene

  • Protein details for PDP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B3KX71
    • J3KPU0
    • Q5U5K1

    Protein attributes for PDP1 Gene

    537 amino acids
    Molecular mass:
    61054 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 2 magnesium ions per subunit.;
    Quaternary structure:
    • Heterodimer of a catalytic (PDP1) and a regulatory (PDPR) subunit.
    • Sequence=AAF67480.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PDP1 Gene


neXtProt entry for PDP1 Gene

Proteomics data for PDP1 Gene at MOPED

Post-translational modifications for PDP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for PDP1 (Pyruvate Dehydrogenase Phosphatase/PDP1)

Domains for PDP1 Gene

Gene Families for PDP1 Gene

Protein Domains for PDP1 Gene

Suggested Antigen Peptide Sequences for PDP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 PPM-type phosphatase domain.
  • Belongs to the PP2C family.
  • Contains 1 PPM-type phosphatase domain.
  • Belongs to the PP2C family.
genes like me logo Genes that share domains with PDP1: view

Function for PDP1 Gene

Molecular function for PDP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
[Pyruvate dehydrogenase (acetyl-transferring)] phosphate + H(2)O = [pyruvate dehydrogenase (acetyl-transferring)] + phosphate
UniProtKB/Swiss-Prot Function:
Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex.

Enzyme Numbers (IUBMB) for PDP1 Gene

Gene Ontology (GO) - Molecular Function for PDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004722 protein serine/threonine phosphatase activity IDA 20801214
GO:0004741 [pyruvate dehydrogenase (lipoamide)] phosphatase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PDP1: view

Phenotypes for PDP1 Gene

GenomeRNAi human phenotypes for PDP1:
genes like me logo Genes that share phenotypes with PDP1: view

Animal Model Products

miRNA for PDP1 Gene

miRTarBase miRNAs that target PDP1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PDP1 Gene

Localization for PDP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDP1 Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for PDP1 Gene COMPARTMENTS Subcellular localization image for PDP1 gene
Compartment Confidence
mitochondrion 4
chloroplast 1
cytosol 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PDP1: view

Pathways for PDP1 Gene

genes like me logo Genes that share pathways with PDP1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process TAS --
GO:0006470 protein dephosphorylation --
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate TAS --
GO:0035970 peptidyl-threonine dephosphorylation IDA 20801214
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with PDP1: view

Drugs for PDP1 Gene

(3) Drugbank Compounds for PDP1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
3-Phenylpyruvic Acid
997 Target experimental
Alpha-Hydroxy-Beta-Phenyl-Propionic Acid
444718 Target experimental
66-22-8 1174 Target experimental

(5) HMDB Compounds for PDP1 Gene

Compound Synonyms Cas Number PubMed IDs
Hydrogen phosphate
  • Biphosphate
  • Magnesium
  • NFB Orthophosphate
Phosphoric acid
  • Acide phosphorique (FRENCH)
  • Dihydrogen oxide

(54) Novoseek inferred chemical compound relationships for PDP1 Gene

Compound -log(P) Hits PubMed IDs
pyruvate 92.8 146
dichloroacetate 85 41
acetyl-coa 72.5 17
abscisic acid 71 21
glycogen 67.4 32
genes like me logo Genes that share compounds with PDP1: view

Transcripts for PDP1 Gene

Unigene Clusters for PDP1 Gene

Pyruvate dehyrogenase phosphatase catalytic subunit 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e
SP1: -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - -

Relevant External Links for PDP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDP1 Gene

mRNA expression in normal human tissues for PDP1 Gene

mRNA differential expression in normal tissues according to GTEx for PDP1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (5.0).

Protein differential expression in normal tissues for PDP1 Gene

This gene is overexpressed in Liver (14.8) and Nasal epithelium (8.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDP1 Gene

SOURCE GeneReport for Unigene cluster for PDP1 Gene Hs.22265

genes like me logo Genes that share expressions with PDP1: view

Expression partners for PDP1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PDP1 Gene

Orthologs for PDP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PDP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PDP1 35
  • 92.43 (n)
  • 97.95 (a)
PDP1 36
  • 92 (a)
(Canis familiaris)
Mammalia PDP1 35
  • 90.75 (n)
  • 97.51 (a)
PDP1 36
  • 98 (a)
(Mus musculus)
Mammalia Pdp1 35
  • 92.17 (n)
  • 98.22 (a)
Pdp1 16
Pdp1 36
  • 98 (a)
(Pan troglodytes)
Mammalia PDP1 35
  • 99.64 (n)
  • 99.47 (a)
PDP1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Pdp1 35
  • 92.65 (n)
  • 98.22 (a)
(Monodelphis domestica)
Mammalia PDP1 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia PDP1 36
  • 88 (a)
(Gallus gallus)
Aves PDP1 35
  • 80.08 (n)
  • 90.34 (a)
PDP1 36
  • 90 (a)
(Anolis carolinensis)
Reptilia PDP1 36
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pdp1 35
  • 75.02 (n)
  • 88.15 (a)
(Danio rerio)
Actinopterygii pdp1 35
  • 69.33 (n)
  • 76.8 (a)
pdp1 36
  • 75 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008349 35
  • 51.4 (n)
  • 47.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pdp 35
  • 50.98 (n)
  • 42.82 (a)
Pdp 36
  • 39 (a)
(Caenorhabditis elegans)
Secernentea pdp-1 35
  • 47.03 (n)
  • 41.09 (a)
pdp-1 36
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTC5 36
  • 22 (a)
PTC5 38
Species with no ortholog for PDP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDP1 Gene

Gene Tree for PDP1 (if available)
Gene Tree for PDP1 (if available)

Paralogs for PDP1 Gene

Paralogs for PDP1 Gene

(2) SIMAP similar genes for PDP1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PDP1: view

Variants for PDP1 Gene

Sequence variations from dbSNP and Humsavar for PDP1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs911 -- 93,924,304(-) AAAAT(C/G)TTTCA utr-variant-3-prime
rs4236819 -- 93,920,991(+) GAACA(C/T)TGTTA intron-variant
rs4236820 -- 93,921,193(+) GCCTT(A/T)GATAG intron-variant
rs4395871 -- 93,920,612(+) GCGCA(C/T)ATAGT intron-variant
rs4735258 -- 93,923,709(+) TGATA(C/T)ACATT utr-variant-3-prime

Relevant External Links for PDP1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PDP1 Gene

Disorders for PDP1 Gene

(1) OMIM Diseases for PDP1 Gene (605993)


  • Pyruvate dehydrogenase phosphatase deficiency (PDP deficiency) [MIM:608782]: Results in lactic acidosis leading to neurological dysfunction. {ECO:0000269 PubMed:15855260}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PDP1 Gene

(33) Novoseek inferred disease relationships for PDP1 Gene

Disease -log(P) Hits PubMed IDs
primary lactic acidosis 86.3 4
lactic acidemia 70.1 3
acidosis lactic 67 9
biliary cirrhosis primary 60.7 9
mitochondrial diseases 44 3

Relevant External Links for PDP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PDP1: view

No data available for Genatlas for PDP1 Gene

Publications for PDP1 Gene

  1. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. (PMID: 15855260) Maj M.C. … Cameron J.M. (J. Clin. Endocrinol. Metab. 2005) 3 4 23
  2. Crystallization and preliminary crystallographic studies of the catalytic subunits of human pyruvate dehydrogenase phosphatase isoforms 1 and 2. (PMID: 20208177) Kato J. … Kato M. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2010) 3 23
  3. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for PDP1 Gene

Sources for PDP1 Gene

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