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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 3.1.3.43 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

Start:
93,857,807 bp from pter
End:
93,926,068 bp from pter
Size:
68,262 bases
Orientation:
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:
    Q9P0J1-PDP1_HUMAN
    Recommended name:
    [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial
    Protein Accession:
    Q9P0J1
    Secondary Accessions:
    • B3KX71
    • J3KPU0
    • Q5U5K1

    Protein attributes for PDP1 Gene

    Size:
    537 amino acids
    Molecular mass:
    61054 Da
    Cofactor:
    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.
    SequenceCaution:
    • Sequence=AAF67480.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PDP1 Gene

    UniProtKB/Swiss-Prot:

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

Domains for PDP1 Gene

Gene Families for PDP1 Gene

HGNC:
  • PPM :Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent

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

Q9P0J1

UniProtKB/Swiss-Prot:

PDP1_HUMAN :
  • Q9P0J1
Domain:
  • Contains 1 PPM-type phosphatase domain.
Family:
  • 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

miRNA for PDP1 Gene

miRTarBase miRNAs that target PDP1

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

Localization for PDP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDP1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
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

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

Compounds for PDP1 Gene

(4) HMDB Compounds for PDP1 Gene

Compound Synonyms Cas Number PubMed IDs
Hydrogen phosphate
  • Biphosphate
14066-19-4
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(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:

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: - - -
SP7:

Relevant External Links for PDP1 Gene

GeneLoc Exon Structure for
PDP1
ECgene alternative splicing isoforms for
PDP1

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).

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

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
chimpanzee
(Pan troglodytes)
Mammalia PDP1 35
  • 99.64 (n)
  • 99.47 (a)
PDP1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDP1 35
  • 92.43 (n)
  • 97.95 (a)
PDP1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDP1 35
  • 90.75 (n)
  • 97.51 (a)
PDP1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdp1 35
  • 92.17 (n)
  • 98.22 (a)
Pdp1 16
Pdp1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDP1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDP1 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdp1 35
  • 92.65 (n)
  • 98.22 (a)
chicken
(Gallus gallus)
Aves PDP1 35
  • 80.08 (n)
  • 90.34 (a)
PDP1 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDP1 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdp1 35
  • 75.02 (n)
  • 88.15 (a)
zebrafish
(Danio rerio)
Actinopterygii pdp1 35
  • 69.33 (n)
  • 76.8 (a)
pdp1 36
  • 75 (a)
OneToOne
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)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pdp-1 35
  • 47.03 (n)
  • 41.09 (a)
pdp-1 36
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTC5 36
  • 22 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PDP1 (if available)
TreeFam:
Gene Tree for PDP1 (if available)

Paralogs for PDP1 Gene

Paralogs for PDP1 Gene

Selected 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
PDP1
Human Gene Mutation Database (HGMD)
PDP1

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)

UniProtKB/Swiss-Prot

PDP1_HUMAN
  • 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)
PDP1
Human Genome Epidemiology (HuGE) Navigator
PDP1
genes like me logo Genes that share disorders with PDP1: view

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. Down-regulation of pyruvate dehydrogenase phosphatase in obese subjects is a defect that signals insulin resistance. (PMID: 15897476) Piccinini M. … Rinaudo M.T. (Obes. Res. 2005) 3 23
  3. 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
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for PDP1 Gene

Sources for PDP1 Gene

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