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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDP1 Gene

protein-coding   GIFtS: 61
GCID: GC08P094870

pyruvate dehyrogenase phosphatase catalytic subunit 1

(Previous names: protein phosphatase 2C, magnesium-dependent, catalytic...)
(Previous symbol: PPM2C)
 Explore 42 diseases affiliated with
PDP1 via our new
 Human Malady Compendium 
Biological research products
for PDP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 11 2     PDPC 12 3
PPM2C1 2 3 5     EC 3.1.3.433 8
PDP1 2 3     PDPC2 5
PDH1 2     [Pyruvate Dehydrogenase [Acetyl-Transferring]]-Phosphatase 1, Mitochondrial2
Protein Phosphatase 2C, Magnesium-Dependent, Catalytic Subunit1 2     Pyruvate Dehydrogenase (Lipoamide) Phosphatase-Phosphatase2
Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 12 3     Protein Phosphatase 2C3
PDP 12 3     EC 3.1.38

External Ids:    HGNC: 92791   Entrez Gene: 547042   Ensembl: ENSG000001649517   OMIM: 6059935   UniProtKB: Q9P0J13   

Export aliases for PDP1 gene to outside databases

Previous GC identifers: GC08P094999 GC08P090137


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PDP1:
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)

UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1
Function: Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the
pyruvate dehydrogenase complex (By similarity)

Gene Wiki entry for PDP1 (Pyruvate dehydrogenase phosphatase)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PDP1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PDP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q22.1   Ensembl cytogenetic band:  8q22.1   HGNC cytogenetic band: 8q22.1

PDP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDP1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P094870:  view genomic region     (about GC identifiers)

Start:
94,870,035 bp from pter      End:
94,938,296 bp from pter
Size:
68,262 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1 (See protein sequence)
Recommended Name: [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial precursor  
Size: 537 amino acids; 61054 Da
Cofactor: Binds 2 magnesium ions per subunit (By similarity)
Subunit: Heterodimer of a catalytic (PDP1) and a regulatory (PDPR) subunit (By similarity)
Subcellular location: Mitochondrion matrix (By similarity)
Sequence caution: Sequence=AAF67480.1; Type=Erroneous initiation;
Secondary accessions: B3KX71 Q5U5K1

Explore the universe of human proteins at neXtProt for PDP1: NX_Q9P0J1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P0J1

  • 4/11 DME Specific Peptides for PDP1 (Q9P0J1) (see all 11)
     FLVLATDG  VAFSGATAC  ARMYRDDIT  NAATHLIRH 

    PDP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001155251.1  NP_001155252.1  NP_001155253.1  NP_060914.2  

    ENSEMBL proteins: 
     ENSP00000297598   ENSP00000430931   ENSP00000428317   ENSP00000430366   ENSP00000428433  
     ENSP00000430380   ENSP00000430655   ENSP00000429492   ENSP00000379503  
    Reactome Protein details: Q9P0J1
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    Uscn Proteins for PDP1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--
    GO:0008287protein serine/threonine phosphatase complex ----


    PDP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PDP1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PDP1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001932 PP2C-like
     IPR000222 PP2C_Mn2_Asp60_BS
     IPR015655 Protein_Pase_2C

    Graphical View of Domain Structure for InterPro Entry Q9P0J1

    ProtoNet protein and cluster: Q9P0J1

    UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1
    Similarity: Belongs to the PP2C family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1
    Function: Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the
    pyruvate dehydrogenase complex (By similarity)
    Catalytic activity: [Pyruvate dehydrogenase (acetyl-transferring)] phosphate + H(2)O = [pyruvate dehydrogenase
    (acetyl-transferring)] + phosphate

    Enzyme Numbers (IUBMB): EC 3.1.3.431 2 EC 3.1.32

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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004722protein serine/threonine phosphatase activity IDA--
    GO:0004724magnesium-dependent protein serine/threonine phosphatase activity ----
    GO:0004741[pyruvate dehydrogenase (lipoamide)] phosphatase activity IEA--
    GO:0005509calcium ion binding ----
    GO:0032403protein complex binding ----


    PDP1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for PDP1:
     Decreased focal adhesion (FA)   Increased apoptosis 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Pyruvate metabolism
    Pyruvate metabolism1.00
    Regulation of pyruvate dehydrogenase (PDH) complex0.60
    2Apoptosis and survival BAD phosphorylation
    Apoptosis and survival BAD phosphorylation1.00
    Apoptosis and survival_BAD phosphorylation0.99
    3TCA Cycle
    TCA Cycle1.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    4Metabolism
    Metabolism1.00
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PDP1
        Apoptosis and survival BAD phosphorylation


    2 GeneGo (Thomson Reuters) Pathways for PDP1
        Apoptosis and survival BAD phosphorylation
    Regulation of CFTR activity (norm and CF)

    1 BioSystems Pathway for PDP1 
        TCA Cycle

    5        Reactome Pathways for PDP1
        Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    The citric acid (TCA) cycle and respiratory electron transport
    Regulation of pyruvate dehydrogenase (PDH) complex



    PDP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/48 Interacting proteins for PDP1 (Q9P0J12, 3 ENSP000002975984) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDHA1P085592, 3, ENSP000003943824MINT-8227761 I2D: score=2 STRING: ENSP00000394382
    PRKCDQ056553, ENSP000003316024I2D: score=2 STRING: ENSP00000331602
    CNEP1R1ENSP000004056354STRING: ENSP00000405635
    CTDNEP1ENSP000003217324STRING: ENSP00000321732
    CYCSENSP000003077864STRING: ENSP00000307786
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006090pyruvate metabolic process TAS--
    GO:0006470protein dephosphorylation ----
    GO:0010510regulation of acetyl-CoA biosynthetic process from pyruvate TAS--
    GO:0035970peptidyl-threonine dephosphorylation IDA--
    GO:0044281small molecule metabolic process TAS--


    PDP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PDP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PDP1

    4 HMDB Compounds for PDP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Hydrogen phosphateBiphosphate (see all 10)14066-19-4--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    10/54 Novoseek chemical compound relationships for PDP1 gene (see all 54)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyruvate 92.8 369 10205302 (4), 12467446 (3), 10409125 (3), 10913026 (3) (see all 99)
    dichloroacetate 85 65 10449128 (7), 10409125 (5), 18206410 (3), 9818855 (3) (see all 20)
    acetyl-coa 72.5 17 9089387 (2), 10826498 (2), 14681844 (2), 8102832 (1) (see all 14)
    abscisic acid 71 30 11587514 (2), 19407142 (2), 12602867 (2), 19458118 (2) (see all 17)
    glycogen 67.4 33 19833896 (4), 8102832 (3), 11433007 (2), 9688676 (2) (see all 23)
    lactate 65.5 58 16403777 (3), 1736740 (3), 9593822 (2), 10776894 (2) (see all 36)
    acetyl-l-carnitine 63 2 11001755 (1), 10826498 (1)
    alpha-ketoglutarate 61.7 9 1380527 (1), 8133737 (1), 9746330 (1), 14715435 (1) (see all 8)
    dihydrolipoamide 61 2 14708897 (1), 16904023 (1)
    thiamine pyrophosphate 59.7 6 19043979 (3), 7808831 (1)

    Search CenterWatch for drugs/clinical trials and news about PDP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PDP1 gene (5 alternative transcripts): 
    NM_001161779.1  NM_001161780.1  NM_001161781.1  NM_018444.3  NM_001161778.1  

    Unigene Cluster for PDP1:

    Pyruvate dehyrogenase phosphatase catalytic subunit 1
    Hs.22265  [show with all ESTs]
    Unigene Representative Sequence: NM_001161779
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523021 ENST00000297598(uc003ygf.3 uc003yge.3) ENST00000520614
    ENST00000520728 ENST00000518107 ENST00000518573 ENST00000517764 ENST00000518827
    ENST00000521144 ENST00000396200(uc010max.3 uc011lgm.2 uc011lgn.2)


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    Additional cDNA sequence: 

    AF155661.1 AK022057.1 AK057079.1 AK302651.1 BC047619.1 BC064978.1 BC098343.1 

    9 DOTS entries:

    DT.313132  DT.95175006  DT.100786820  DT.97840685  DT.121482420  DT.91685658  DT.100786819  DT.121482407 
    DT.95093913 

    24/159 AceView cDNA sequences (see all 159):

    N51125 AK057079 BM973633 AW954308 BX099681 AI024308 CD672895 R17603 
    AL698824 AA679848 T36270 BE326962 F12638 AK126862 BX473459 Z38909 
    BE221840 CB242729 BC064978 BC047619 NM_018444 BE222048 BX472714 T08925 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PDP1 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for PDP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PDP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAGTTTAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PDP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDP1

    SOURCE GeneReport for Unigene cluster: Hs.22265
        SABiosciences Expression via Pathway-Focused PCR Array including PDP1: 
              Protein Phosphatases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PDP1 gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdp11 , 5 pyruvate dehyrogenase phosphatase catalytic subunit more1, 5 92.17(n)1
    98.22(a)1
      4 (5.48 cM)5
    3815111  NM_001098231.11  NP_001091701.11 
     119581845 
    chicken
    (Gallus gallus)
    Aves PDP11 pyruvate dehyrogenase phosphatase catalytic subunit more 80.08(n)
    90.34(a)
      428372  NM_001199910.1  NP_001186839.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDP16
    --
    89(a)
    1 ↔ 1
    4(18793095-18794705)
    zebrafish
    (Danio rerio)
    Actinopterygii pdp11 pyruvate dehyrogenase phosphatase catalytic subunit more 70.75(n)
    80.08(a)
      558728  NM_001111158.1  NP_001104628.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pdp1 Pyruvate dehydrogenase phosphatase 50.98(n)
    42.82(a)
      31683  NM_132176.3  NP_572404.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pdp-11 Protein PDP-1 47.03(n)
    41.09(a)
      172035  NM_058956.4  NP_491357.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PTC5(YOR090C)4
    PTC51
    Mitochondrial type 2C protein phosphatase (PP2C) involved more4
    Ptc5p1
    45.92(n)1
    34.37(a)1
      15(492841-491123)4
    8542571, 4  NP_014733.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G550506
    AT5G027606
    (see all 16)
    putative protein phosphatase 2C 67
    (see all 16)
    25(a)
    25(a)
    (see all 16)
    many ↔ many
    many ↔ many
    (see all 16)
    3(20400488-20402595)
    5(625254-627124)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 18)
    protein phosphatase-2c, putative
    (see all 18)
    9(a)
    26(a)
    (see all 18)
    many ↔ many
    many ↔ many
    (see all 18)
    3(14654927-14663491)
    3(276183-277705)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDP1 gene
    PDP22  
    2 SIMAP similar genes for PDP1 using alignment to 7 protein entries:     PDP1_HUMAN (see all proteins):
    PPM2C    PDP2

    PDP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/169 NCBI SNPs in PDP1 are shown (see all 169    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs775014781,2
    C,F,--90135221(+) ACAAAG/ATAAGG 3 -- us2k12Minor allele frequency- A:0.08WA EA 238
    rs1127196281,2
    --90135521(+) TCTTAC/TATGTG 4 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs615545561,2
    C,--90135540(+) AGGCAT/CGCAGA 4 -- us2k12Minor allele frequency- C:0.12CSA WA 120
    rs615003201,2
    C,--90135671(+) TACTTA/GAATTA 4 -- us2k12Minor allele frequency- G:0.11CSA WA 120
    rs726683581,2
    C,--90135937(+) TATTAC/TATAAA 4 -- us2k12Minor allele frequency- T:0.04NA 122
    rs736929591,2
    C,--90136200(+) GGTGGA/TAACAA 4 -- us2k12Minor allele frequency- T:0.09WA 120
    rs1179333381,2
    C,F,--90136392(+) CCTCTT/AGCTGC 4 -- us2k11Minor allele frequency- A:0.02EA 120
    rs797979571,2
    C,F,--90136602(+) GAAGCC/TCGCAC 4 -- us2k11Minor allele frequency- T:0.03NA 120
    rs283940561,2
    C,F,--90136760(+) CGGCCC/GAGGCG 4 -- us2k17Minor allele frequency- G:0.48NA CSA WA EA 366
    rs287035911,2
    C,F,--90136803(+) CCAACG/ACCGCC 4 -- us2k16Minor allele frequency- A:0.40NA CSA WA EA 364

    HapMap Linkage Disequilibrium report for PDP1 (94870035 - 94938296 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PDP1: --
    Human Gene Mutation Database (HGMD): PDP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PDP1
    DNA2.0 Custom Variant and Variant Library Synthesis for PDP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PDP1 for disorders           About GeneDecksing

    OMIM gene information: 605993   
    OMIM disorders: 608782  
    UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1
  • Defects in PDP1 are the cause of pyruvate dehydrogenase phosphatase deficiency (PDP deficiency) [MIM:608782].
  • PDP deficiency results in lactic acidosis leading to neurological dysfunction

    20/42 diseases for PDP1 (see all 42):    About MalaCards
    pyruvate dehydrogenase phosphatase deficiency    primary hypertrophic osteoarthropathy    lactic acidosis    primary biliary cirrhosis
    sarcosinemia    frey syndrome    insulin resistance    cystic fibrosis
    alexia    pasteurellosis    lupus erythematosus    diabetes mellitus
    hyperprolactinemia    phenylketonuria    myocardial infarction    mumps
    squamous cell carcinoma    hyperandrogenism    hyperglycemia    alzheimer's disease

    2 diseases from the University of Copenhagen DISEASES database for PDP1:
    Atypical autism     Pasteurellosis

    10/33 Novoseek disease relationships for PDP1 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    primary lactic acidosis 86.3 4 10449128 (1), 8983728 (1), 1528021 (1), 9818855 (1)
    lactic acidemia 70.1 4 1327585 (2), 9818854 (1)
    acidosis lactic 67 9 9530159 (1), 18197404 (1), 12551913 (1), 16981164 (1) (see all 9)
    biliary cirrhosis primary 60.7 9 2387091 (2), 1380527 (1), 8348753 (1), 7586732 (1) (see all 8)
    mitochondrial diseases 44 3 10449128 (1), 9818855 (1), 17384007 (1)
    leigh syndrome 42.9 1 19341700 (1)
    peroxisomal disorders 35.4 1 8105143 (1)
    insulin resistance 31.1 10 10878680 (3), 2407584 (2), 9426381 (2), 1828239 (1) (see all 6)
    niddm 27.5 20 7833497 (4), 9517374 (3), 2407584 (2), 2121778 (2) (see all 8)
    insulin sensitivity 25.2 5 15897476 (2), 9419751 (1), 10878680 (1), 10333946 (1)

    Human Genome Epidemiology (HuGE) Navigator: PDP1 (1 document)

    Export disorders for PDP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PDP1 gene, integrated from 9 sources (see all 283):
    (articles sorted by number of sources associating them with PDP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. (PubMed id 15855260)1, 2, 9 Maj M.C.... Cameron J.M. (2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    5. Molecular cloning and expression of the catalytic subunit of bovine pyruvate dehydrogenase phosphatase and sequence similarity with protein phosphatase 2C. (PubMed id 8396421)1, 3 Lawson J.E....Reed L.J. (1993)
    6. Down-regulation of pyruvate dehydrogenase phosphatase in obese subjects is a defect that signals insulin resistance. (PubMed id 15897476)1, 9 Piccinini M....Rinaudo M.T. (2005)
    7. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. (PubMed id 19184109)1, 9 Cameron J.M....Robinson B.H. (2009)
    8. Decreased PDH activation and glycogenolysis during exercise following fat adaptation with carbohydrate restoration. (PubMed id 16188909)1, 9 Stellingwerff T....Burke L.M. (2006)
    9. Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia. (PubMed id 1327585)1, 9 Ito M....Kuroda Y. (1992)
    10. Crystallization and preliminary crystallographic stud ies of the catalytic subunits of human pyruvate dehydrogenase phosphatase isofo rms 1 and 2. (PubMed id 20208177)1, 9 Kato J. and Kato M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54704 HGNC: 9279 AceView: PPM2C Ensembl:ENSG00000164951 euGenes: HUgn54704
    ECgene: PDP1 H-InvDB: PDP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PDP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PDP1 gene:
    Search GeneIP for patents involving PDP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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