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Aliases for PDP1 Gene

Aliases for PDP1 Gene

  • Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 1 2 3
  • 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
  • PPM2C 3 4
  • 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
  • PDPC 3
  • 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 atypical autism. 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

Chromosome:
8
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

Antibody Products

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

Domains & Families for PDP1 Gene

Gene Families for PDP1 Gene

Protein Domains for PDP1 Gene

Suggested Antigen Peptide Sequences for PDP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P0J1

UniProtKB/Swiss-Prot:

PDP1_HUMAN :
  • Contains 1 PPM-type phosphatase domain.
  • Belongs to the PP2C family.
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:0043169 cation binding --
genes like me logo Genes that share ontologies with PDP1: view
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

COMPARTMENTS
Jensen Localization Image for PDP1 Gene COMPARTMENTS Subcellular localization image for PDP1 gene
Compartment Confidence
mitochondrion 4
cytosol 2
nucleus 2

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 & Interactions for PDP1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for PDP1 Gene

Inactivates:

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 & Compounds for PDP1 Gene

(25) Drugs for PDP1 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Epinephrine Approved Pharma 768
Gliclazide Approved Pharma 49
Heparin Approved, Investigational Pharma Antagonist 672,226
Nicardipine Approved Pharma Antagonist 28
Tacrolimus Approved, Investigational Pharma 992

(33) Additional Compounds for PDP1 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen phosphate
  • Biphosphate
  • Hydrogen orthophosphate
  • Hydrogen phosphate
  • Hydrogen phosphate anion
  • Hydrogen phosphate dianion
14066-19-4
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
2-Oxo acid
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: - - -
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) (x5.0).

Protein differential expression in normal tissues from HIPED for PDP1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PDP1: view

Protein tissue co-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
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
chimpanzee
(Pan troglodytes)
Mammalia PDP1 35
  • 99.64 (n)
  • 99.47 (a)
PDP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdp1 35
  • 92.65 (n)
  • 98.22 (a)
oppossum
(Monodelphis domestica)
Mammalia PDP1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDP1 36
  • 88 (a)
OneToOne
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

(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

Variation tolerance for PDP1 Gene

Residual Variation Intolerance Score: 8.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.50% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(11) MalaCards diseases for PDP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
pyruvate dehydrogenase phosphatase deficiency
  • lactic acidemia with pyruvate dehydrogenase phosphatase deficiency
atypical autism
  • pdd nos
pyruvate dehydrogenase e1-alpha deficiency
  • pyruvate decarboxylase deficiency
sarcosinemia
  • hypersarcosinemia
pasteurellosis
  • pasteurella infectious disease
- elite association
Search PDP1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PDP1

Genetic Association Database (GAD)
PDP1
Human Genome Epidemiology (HuGE) Navigator
PDP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDP1
genes like me logo Genes that share disorders with PDP1: view

No data available for Genatlas for PDP1 Gene

Publications for PDP1 Gene

  1. Closely related receptor complexes differ in their ABA selectivity and sensitivity. (PMID: 19769575) Szostkiewicz I. … Grill E. (Plant J. 2010) 23 67
  2. The PP2C-SnRK2 complex: the central regulator of an abscisic acid signaling pathway. (PMID: 20023393) Hirayama T. … Umezawa T. (Plant Signal Behav 2010) 23 67
  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) 23 67
  4. A combination of alpha lipoic acid and calcium hydroxycitrate is efficient against mouse cancer models: preliminary results. (PMID: 20372858) Schwartz L. … IsraAl M. (Oncol. Rep. 2010) 23 67
  5. Cell death of prostate cancer cells by specific amino acid restriction depends on alterations of glucose metabolism. (PMID: 20432447) Fu Y.M. … Meadows G.G. (J. Cell. Physiol. 2010) 23 67

Products for PDP1 Gene

Sources for PDP1 Gene

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