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PDP1 Gene

protein-coding   GIFtS: 63
GCID: GC08P094870

Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 1

(Previous names: protein phosphatase 2C, magnesium-dependent, catalytic subunit)
(Previous symbol: PPM2C)
  See PDP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 11 2     EC 3.1.3.433 8
PPM2C1 2 3 5     PDPC2 5
Protein Phosphatase 2C, Magnesium-Dependent, Catalytic Subunit1 2     PDH2
Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 12 3     [Pyruvate Dehydrogenase [Acetyl-Transferring]]-Phosphatase 1,
Mitochondrial2
PDP2 3     Pyruvate Dehydrogenase (Lipoamide) Phosphatase-Phosphatase2
PDP 12 3     Protein Phosphatase 2C3
PDPC 12 3     EC 3.1.38

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

Export aliases for PDP1 gene to outside databases

Previous GC identifers: GC08P094999 GC08P090137


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pasteurellosis. GO annotations related to this gene include [pyruvate dehydrogenase (lipoamide)] phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is PDP2.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_008046.17  NC_018919.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PDP1
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
Sequence caution: Sequence=AAF67480.1; Type=Erroneous initiation;
Secondary accessions: B3KX71 J3KPU0 Q5U5K1
Alternative splicing: 2 isoforms:  Q9P0J1-1   Q9P0J1-2   (No experimental confirmation available)

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

Explore proteomics data for PDP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PDP1 (Q9P0J1) (see all 11)
     FLVLATDG  VAFSGATAC  ARMYRDDIT  NAATHLIRH 


    See PDP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    PDP1 Human Recombinant Protein Products:

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    Novus Biologicals PDP1 Lysate
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PDP1

     
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    EMD Millipore Mono- and Polyclonal Antibodies for the study of PDP1
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    Cloud-Clone Corp. ELISAs for PDP1
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    Search eBioscience for ELISAs for PDP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PPM: Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent

    3 InterPro protein domains:
     IPR001932 PP2C-like_dom
     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


    Find genes that share domains with PDP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004722protein serine/threonine phosphatase activity IDA--
    GO:0004741[pyruvate dehydrogenase (lipoamide)] phosphatase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with PDP1           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDP1
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    miRTarBase miRNAs that target PDP1:
    hsa-mir-335-5p (MIRT018451)

    Block miRNA regulation of human, mouse, rat PDP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PDP1 (see all 19):
    hsa-miR-448 hsa-miR-938 hsa-miR-578 hsa-miR-192 hsa-miR-3692 hsa-miR-141* hsa-miR-3658 hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidPDP1 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for PDP1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDP1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PDP1_HUMAN, Q9P0J1: Mitochondrion matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    chloroplast1
    cytosol1
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with PDP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PDP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Pyruvate metabolism0.00
    Regulation of pyruvate dehydrogenase (PDH) complex0.00
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    3Development Dopamine D2 receptor transactivation of EGFR
    Apoptosis and survival BAD phosphorylation0.41
    4Metabolism
    Metabolism0.38
    5Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38


    Find genes that share SuperPaths with PDP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for PDP1
        Regulation of pyruvate dehydrogenase (PDH) complex


        Pathway & Disease-focused RT2 Profiler PCR Array including PDP1: 
              Protein Phosphatases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PDP1

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

    Selected Interacting proteins for PDP1 (Q9P0J12, 3 ENSP000002975984) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    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): Selected biological process terms (see all 6):    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:0044237cellular metabolic process TAS--

    Find genes that share ontologies with PDP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected Novoseek inferred 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)



    Find genes that share compounds with PDP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR Assays for microRNAs that regulate PDP1 (see all 19):
    hsa-miR-448 hsa-miR-938 hsa-miR-578 hsa-miR-192 hsa-miR-3692 hsa-miR-141* hsa-miR-3658 hsa-miR-3154
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      QuantiFast Probe-based Assays in human, mouse, rat PDP1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 159):

    AI024308 AI620829 H23952 N51125 T08925 BE221840 R17603 Z38909 
    CD672895 BC047619 AW304694 BQ961606 AA258830 BE326962 AK126862 CB242729 
    T36270 AI378372 AA679848 AL698824 AA436932 F12638 BX473459 BQ440203 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PDP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGTTTAAT
    PDP1 Expression
    About this image


    PDP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Septum   
     
     Adrenal Gland (Endocrine System)
    PDP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.22265
        Pathway & Disease-focused RT2 Profiler PCR Array including PDP1: 
              Protein Phosphatases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDP1

    (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

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

    Orthologs for PDP1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdp11 , 5 pyruvate dehyrogenase phosphatase catalytic subunit 1 less1, 5 92.17(n)1
    98.22(a)1
      4 (5.48 cM)5
    3815111  NM_001098230.11  NP_001091700.11 
     119581845 
    chicken
    (Gallus gallus)
    Aves PDP11 pyruvate dehyrogenase phosphatase catalytic subunit 1 less 80.08(n)
    90.34(a)
      428372  NM_001199910.1  NP_001186839.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDP16
    pyruvate dehyrogenase phosphatase catalytic subuni...
    90(a)
    1 ↔ 1
    4(18793095-18794705)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pdp11 pyruvate dehyrogenase phosphatase catalytic subunit 1 less 75.02(n)
    88.15(a)
      779724  NM_001078803.1  NP_001072271.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pdp11 pyruvate dehyrogenase phosphatase catalytic subunit 1 less 69.33(n)
    76.8(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 pdp-1 47.03(n)
    41.09(a)
      172035  NM_058956.5  NP_491357.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PTC5(YOR090C)4 Mitochondrial type 2C protein phosphatase (PP2C) involved in regulation of pyruvate dehydrogenase activity by dephosphorylating the serine 133 of the Pda1p subunit; acts in concert with kinases Pkp1p and Pkp2p and phosphatase Ptc6p less   --   15(492841-491123) 854257  NP_014733.1 


    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)
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    Paralogs for PDP1 gene
    PDP22  
    2 SIMAP similar genes for PDP1 using alignment to 6 protein entries:     PDP1_HUMAN (see all proteins):
    PPM2C    PDP2

    Find genes that share paralogs with PDP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for PDP1 (see all 214)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420163591,2
    --90135052(+) CGCCCC/TGGCCT 1 -- us2k10--------
    rs1159183361,2
    F--90135156(+) TGGGTC/TATAAA 3 -- us2k11Minor allele frequency- T:0.03WA 118
    rs775014781,2
    C,F--90135221(+) ACAAAG/ATAAGG 3 -- us2k12Minor allele frequency- A:0.08WA EA 238
    rs132708931,2
    C,F--90135247(+) TCCTCC/TATATA 4 -- us2k1 tfbs313Minor allele frequency- T:0.23NA WA CSA EA 375
    rs1389317871,2
    --90135390(+) ACTGAA/CCTGGA 4 -- us2k10--------
    rs1127196281,2
    F--90135521(+) TCTTAC/TATGTG 4 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs615545561,2
    C,F--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
    rs1494661581,2
    --90135804(+) AGCCAC/GAAAAG 4 -- us2k10--------
    rs1852958861,2
    --90135905(+) ATAAAA/GGACCA 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for PDP1 (94870035 - 94938296 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PDP1: --
    Human Gene Mutation Database (HGMD): PDP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 605993   
    OMIM disorders: 608782  
    UniProtKB/Swiss-Prot: PDP1_HUMAN, Q9P0J1
  • Pyruvate dehydrogenase phosphatase deficiency (PDP deficiency) [MIM:608782]: Results in lactic acidosis
    leading to neurological dysfunction. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 10 diseases for PDP1:    
    About MalaCards
    pyruvate dehydrogenase phosphatase deficiency    pasteurellosis    sarcosinemia    ovarian disease
    prostatitis    hyperglycemia    metabolic acidosis    primary biliary cirrhosis
    insulin resistance    cystic fibrosis

    1 disease from the University of Copenhagen DISEASES database for PDP1:
    Pasteurellosis

    Find genes that share disorders with PDP1           About GenesLikeMe

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): PDP1
    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)
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    PubMed articles for PDP1 gene, integrated from 10 sources (see all 284):
    (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. (J. Clin. Endocrinol. Metab. 2005)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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. (Genome Res. 2004)
    5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    6. 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. (Biochemistry 1993)
    7. 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. (Obes. Res. 2005)
    8. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. (PubMed id 19184109)1, 9 Cameron J.M....Robinson B.H. (Hum. Genet. 2009)
    9. Decreased PDH activation and glycogenolysis during exercise following fat adaptation with carbohydrate restoration. (PubMed id 16188909)1, 9 Stellingwerff T....Burke L.M. (Am. J. Physiol. Endocrinol. Metab. 2006)
    10. Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia. (PubMed id 1327585)1, 9 Ito M....Kuroda Y. ( international journal of clinical chemistry 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 54704 HGNC: 9279 AceView: PPM2C Ensembl:ENSG00000164951 euGenes: HUgn54704
    ECgene: PDP1 H-InvDB: PDP1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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