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

PDK4 Gene

protein-coding   GIFtS: 64
GCID: GC07M095212

Pyruvate Dehydrogenase Kinase, Isozyme 4

(Previous names: pyruvate dehydrogenase kinase, isoenzyme 4)
  See 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)
About This Section

Aliases
Pyruvate Dehydrogenase Kinase, Isozyme 41 2     Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 4, Mitochondrial2
Pyruvate Dehydrogenase Kinase, Isoenzyme 41 2     PDHK43
EC 2.7.11.23 8     Pyruvate Dehydrogenase Kinase Isoform 43
[Pyruvate Dehydrogenase [Lipoamide]] Kinase Isozyme 4, Mitochondrial2     EC 2.7.118

External Ids:    HGNC: 88121   Entrez Gene: 51662   Ensembl: ENSG000000047997   OMIM: 6025275   UniProtKB: Q166543   

Export aliases for PDK4 gene to outside databases

Previous GC identifers: GC07M093748 GC07M094811 GC07M094826 GC07M094824 GC07M094857 GC07M095050 GC07M089819


(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 PDK4 Gene:
This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine
kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase
complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism.
Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. (provided by RefSeq, Jul
2008)

GeneCards Summary for PDK4 Gene: 
PDK4 (pyruvate dehydrogenase kinase, isozyme 4) is a protein-coding gene. Diseases associated with PDK4 include insulin resistance, and rhabdomyosarcoma, and among its related super-pathways are Pyruvate 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 kinase activity and pyruvate dehydrogenase (acetyl-transferring) kinase activity. An important paralog of this gene is BCKDK.

UniProtKB/Swiss-Prot: PDK4_HUMAN, Q16654
Function: Serine/threonine kinase that plays a key role in regulation of glucose and fatty acid metabolism and
homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate
dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle,
down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of
pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism in response to prolonged
fasting and starvation. Plays an important role in maintaining normal blood glucose levels under starvation, and
is involved in the insulin signaling cascade. Via its regulation of pyruvate dehydrogenase activity, plays an
important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under
starvation. In the fed state, mediates cellular responses to glucose levels and to a high-fat diet. Regulates
both fatty acid oxidation and de novo fatty acid biosynthesis. Plays a role in the generation of reactive oxygen
species. Protects detached epithelial cells against anoikis. Plays a role in cell proliferation via its role in
regulating carbohydrate and fatty acid metabolism

Gene Wiki entry for PDK4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDK4 gene promoter:
         MEF-2A   PPAR-alpha   RFX1   HNF-1   MyoD   STAT5A   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PDK4 promoter sequence
   Search SABiosciences Chromatin IP Primers for PDK4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDK4


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

Entrez Gene cytogenetic band: 7q21.3   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q21.3-q22.1

PDK4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDK4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M095212:  view genomic region     (about GC identifiers)

Start:
95,212,809 bp from pter      End:
95,225,925 bp from pter
Size:
13,117 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 94,541,818-94,554,938     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PDK4_HUMAN, Q16654 (See protein sequence)
Recommended Name: [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 4, mitochondrial precursor  
Size: 411 amino acids; 46469 Da
Subunit: Homodimer. Interacts with the pyruvate dehydrogenase complex subunit DLAT, and is part of the multimeric
pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide
acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3)
Subcellular location: Mitochondrion matrix
5 PDB 3D structures from and Proteopedia for PDK4:
2E0A (3D)        2ZDX (3D)        2ZDY (3D)        2ZKJ (3D)        3D2R (3D)    

Explore the universe of human proteins at neXtProt for PDK4: NX_Q16654

Explore proteomics data for PDK4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus (PDHK4)
  • View neXtProt modification sites for NX_Q16654

  • 4/12 DME Specific Peptides for PDK4 (Q16654) (see all 12)
     VYVPSHL  HIGSIDP  IYLKALS  KNAMRAT 

    PDK4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PDK4 Protein Expression
    REFSEQ proteins: NP_002603.1  
    ENSEMBL proteins: 
     ENSP00000005178  
    Reactome Protein details: Q16654
    Human Recombinant Protein Products for PDK4: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PDK4 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS8798399
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    PDK4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: pyruvate dehydrogenase kinase, isozyme 4 
    PDHK family

    3 InterPro protein domains:
     IPR005467 Sig_transdc_His_kinase_core
     IPR003594 HATPase_ATP-bd
     IPR018955 BCDHK/PDK_N

    Graphical View of Domain Structure for InterPro Entry Q16654

    ProtoNet protein and cluster: Q16654

    1 Blocks protein domain: IPB003594 ATP-binding region

    UniProtKB/Swiss-Prot: PDK4_HUMAN, Q16654
    Similarity: Belongs to the PDK/BCKDK protein kinase family
    Similarity: Contains 1 histidine kinase domain


    PDK4 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDK4_HUMAN, Q16654
    Function: Serine/threonine kinase that plays a key role in regulation of glucose and fatty acid metabolism and
    homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate
    dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle,
    down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of
    pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism in response to prolonged
    fasting and starvation. Plays an important role in maintaining normal blood glucose levels under starvation, and
    is involved in the insulin signaling cascade. Via its regulation of pyruvate dehydrogenase activity, plays an
    important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under
    starvation. In the fed state, mediates cellular responses to glucose levels and to a high-fat diet. Regulates
    both fatty acid oxidation and de novo fatty acid biosynthesis. Plays a role in the generation of reactive oxygen
    species. Protects detached epithelial cells against anoikis. Plays a role in cell proliferation via its role in
    regulating carbohydrate and fatty acid metabolism
    Catalytic activity: ATP + [pyruvate dehydrogenase (acetyl-transferring)] = ADP + [pyruvate dehydrogenase
    (acetyl-transferring)] phosphate
    Induction: Up-regulated by prolonged fasting, in glucose-deprived cells and in response to a high-fat diet.
    Down-regulated by insulin

         Genatlas biochemistry entry for PDK4:
    pyruvate dehydrogenase kinase 4,highly expressed in heart and skeletal muscle,regulating mitochondrial PDH
    activity

         Enzyme Numbers (IUBMB): EC 2.7.11.21 2 EC 2.7.112

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA18658136
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004740pyruvate dehydrogenase (acetyl-transferring) kinase activity ISS--
    GO:0005524ATP binding IDA18658136
         
    PDK4 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PDK4:
     Decreased substrate adherent c  Increased S DNA content  Increased cell death HMECs cel 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pdk4):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  skeleton 

    PDK4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PDK4: Pdk4tm1Tok Pdk4tm1Rhar

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    SwitchGear 3'UTR luciferase reporter plasmidPDK4 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PDK4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Pyruvate metabolism
    Pyruvate metabolism0.60
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Regulation of pyruvate dehydrogenase (PDH) complex0.60
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    3Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    4Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PDK4
        eNOS Signaling


    5        Reactome Pathways for PDK4
        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



    PDK4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDK4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/57 Interacting proteins for PDK4 (Q166543 ENSP000000051784) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q13, ENSP000003633904I2D: score=2 STRING: ENSP00000363390
    DLATP105153, ENSP000002803464I2D: score=1 STRING: ENSP00000280346
    PDHA1P085593, ENSP000003943824I2D: score=1 STRING: ENSP00000394382
    ACOX1Q150673I2D: score=3 
    BCKDKO148743I2D: score=3 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006glucose metabolic process IEA--
    GO:0006090pyruvate metabolic process TAS--
    GO:0006468protein phosphorylation TAS8798399
    GO:0006885regulation of pH ISS--
    GO:0008286insulin receptor signaling pathway IMP--

    PDK4 for ontologies           About GeneDecksing



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

    PDK4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PDK4

    3 HMDB Compounds for PDK4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Hydrogen phosphateBiphosphate (see all 10)14066-19-4--

    1 DrugBank Compound for PDK4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-[4-(4-methoxyphenyl)-5-methyl-1H-pyrazol-3-yl]benzene-1,3-diol-- --target--10592235

    10/12 Novoseek inferred chemical compound relationships for PDK4 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyruvate 89.7 118 10905486 (3), 17079227 (3), 17062764 (2), 11485553 (2) (see all 65)
    fatty acid 67.9 22 18308721 (2), 15776585 (2), 11181544 (1), 12476789 (1) (see all 14)
    carnitine 62.1 9 16092055 (2), 19448714 (1), 14761878 (1), 20040361 (1) (see all 6)
    glucose 59.4 42 16314495 (4), 12582211 (2), 18308721 (2), 17132539 (2) (see all 24)
    glycogen 55.6 16 12015434 (3), 15294034 (2), 17488246 (1), 18468620 (1) (see all 8)
    lipid 47.9 13 17132539 (2), 12676647 (1), 15988707 (1), 17652214 (1) (see all 7)
    carbohydrates 35.4 1 15294034 (1)
    adp 10.7 2 18658136 (2)
    lactate 9.06 1 12676647 (1)
    estrogen 8.26 1 19703515 (1)

    Search CenterWatch for drugs/clinical trials and news about PDK4

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for PDK4 gene: 
    NM_002612.3  

    Unigene Cluster for PDK4:

    Pyruvate dehydrogenase kinase, isozyme 4
    Hs.8364  [show with all ESTs]
    Unigene Representative Sequence: NM_002612
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000005178(uc003unz.3 uc003uoa.3) ENST00000473796 ENST00000468445
    ENST00000498190 ENST00000473301
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    Additional mRNA sequence: 

    AF334710.1 AK096428.1 AK223328.1 AK312424.1 AL832708.1 BC040239.1 U54617.1 

    11 DOTS entries:

    DT.100796230  DT.91763218  DT.97783442  DT.87005165  DT.432654  DT.91828603  DT.92045984  DT.100651048 
    DT.100663881  DT.95307742  DT.100796231 

    24/260 AceView cDNA sequences (see all 260):

    AI493814 AW057881 BG898960 BM021367 AI394493 AW028855 BF449008 U54617 
    AW058225 AI674620 AA046703 BM263195 AW614301 AA604357 AI669882 AA193057 
    AA917740 AI174832 AI273770 AA835089 AK098151 CR590426 AI400883 AI304339 

    GeneLoc Exon Structure


    (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

    PDK4 expression in normal human tissues (normalized intensities)      PDK4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATACTTG
    PDK4 Expression
    About this image


    PDK4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 6 entries
             Thoracic Perivascular Adipose
             HyStem+BMP4-induced E15 cells
             Human Preadipocyte-visceral (HPA-v)   
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Zeugopod Periosteum
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Annulus Fibrosus Cells (HAFC)   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   
             trachea   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Human Cardiac Fibroblasts-adult ventrical (HCF-av)   

    See PDK4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDK4

    SOURCE GeneReport for Unigene cluster: Hs.8364

    UniProtKB/Swiss-Prot: PDK4_HUMAN, Q16654
    Tissue specificity: Ubiquitous; highest levels of expression in heart and skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Arrays including PDK4: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Fatty Liver in human mouse rat
              Glucose Metabolism in human mouse rat
              Cardiotoxicity 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 animals and fungi.

    Orthologs for PDK4 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdk41 , 5 pyruvate dehydrogenase kinase, isoenzyme 41, 5 86.44(n)1
    93.38(a)1
      6 (2.06 cM)5
    272731  NM_013743.21  NP_038771.11 
     54833515 
    chicken
    (Gallus gallus)
    Aves PDK41 pyruvate dehydrogenase kinase, isozyme 4 76.44(n)
    79.56(a)
      420570  NM_001199909.1  NP_001186838.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDK46
    Uncharacterized protein
    63(a)
    1 ↔ 1
    6(22566503-22580492)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC059972.12   -- 77.31(n)    BC059972.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pdk41 pyruvate dehydrogenase kinase, isozyme 4 68.07(n)
    72.7(a)
      561007  NM_001128704.1  NP_001122176.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pdk3 pyruvate dehydrogenase (lipoamide)
    kinase
    53(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea ZK370.53 Phosphoprotein 50(a)   III(8809765-8813134)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PKP26
    Mitochondrial protein kinase that negatively regul...
    19(a)
    1 → many
    VII(392223-393698)


    ENSEMBL Gene Tree for PDK4 (if available)
    TreeFam Gene Tree for PDK4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDK4 gene
    BCKDK2  PDK12  PDK22  PDK32  
    3 SIMAP similar genes for PDK4 using alignment to 3 protein entries:     PDK4_HUMAN (see all proteins):
    PDK2    PDK3    PDK1

    PDK4 for paralogs           About GeneDecksing



    (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) 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

    10/419 SNPs in PDK4 are shown (see all 419)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1475945491,2
    C--95212353(+) CTAATC/TTATTT 1 -- ds50010--------
    rs117638231,2
    C,F,A,H--95212415(+) GCCAGC/TAAGGT 1 -- ds50018Minor allele frequency- T:0.41NA CSA WA EA 367
    rs117638241,2
    C,F,H--95212420(+) TAAGGG/TCATTA 1 -- ds50018Minor allele frequency- T:0.41NA CSA WA EA 367
    rs757052571,2
    C,F--95212442(+) AAAGGA/CAGTTG 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1404592331,2
    --95212447(+) AAGTTC/GTCTAT 1 -- ds50010--------
    rs284260831,2
    C,F--95212520(+) AATTTA/CACTTA 1 -- ds50013Minor allele frequency- C:0.20WA 122
    rs1809284401,2
    C--95212543(+) CTATTC/TCCACC 1 -- ds50010--------
    rs1849464481,2
    --95212565(+) CTGACA/GTTTAA 1 -- ds50010--------
    rs1909285961,2
    --95212634(+) GTATGC/TAAACA 1 -- ds50010--------
    rs1817385391,2
    --95212676(+) AATATG/TCAGAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PDK4 (95212809 - 95225925 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PDK4: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PDK4
    DNA2.0 Custom Variant and Variant Library Synthesis for PDK4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602527    OMIM disorders: --

    8 diseases for PDK4:    About MalaCards
    insulin resistance    rhabdomyosarcoma    diabetes mellitus    type 1 diabetes
    myopathy    ischemia    obesity    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for PDK4:
    Systolic heart failure

    PDK4 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for PDK4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulin resistance 43.5 2 12476789 (1), 10905486 (1)
    rhabdomyosarcoma 32.1 1 17488246 (1)
    insulin sensitivity 23.7 5 12582211 (2), 16763003 (2)
    niddm 16.2 5 15776585 (2), 9787110 (1)
    atrophy 0 1 16338907 (1)
    diabetes mellitus 0 3 12476789 (1), 15776585 (1)

    Genetic Association Database (GAD): PDK4
    Human Genome Epidemiology (HuGE) Navigator: PDK4 (3 documents)

    Export disorders for PDK4 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 PDK4 gene, integrated from 9 sources (see all 123):
    (articles sorted by number of sources associating them with PDK4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pyruvate dehydrogenase kinase-4 structures reveal a metastable open conformation fostering robust core-free basal activity. (PubMed id 18658136)1, 2, 9 Wynn R.M.... Chuang D.T. (2008)
    2. [Genetic polymorphism of pyruvate dehydrogenase kinase 4 (PDK4), paraoxonase 2 (PON2), and fatty acid binding protein 2 (FABP2) in the NIDDM population of Senegal] (PubMed id 15776585)1, 4, 9 Che D....Trivin F. (2002)
    3. Diverging regulation of pyruvate dehydrogenase kinase isoform gene expression in cultured human muscle cells. (PubMed id 15955060)1, 2, 9 Abbot E.L....Yeaman S.J. (2005)
    4. Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human. (PubMed id 8798399)1, 2, 9 Rowles J....Prochazka M. (1996)
    5. Pyruvate dehydrogenase activation and kinase expression in human skeletal muscle during fasting. (PubMed id 14966024)1, 2, 9 Spriet L.L....Cameron-Smith D. (2004)
    6. Erk regulation of pyruvate dehydrogenase flux through PDK4 modulates cell proliferation. (PubMed id 21852536)1, 2 Grassian A.R....Brugge J.S. (2011)
    7. Inhibitor-bound structures of human pyruvate dehydrog enase kinase 4. (PubMed id 21904029)1, 2 Kukimoto-Niino M....Yokoyama S. (2011)
    8. Butyrate elicits a metabolic switch in human colon ca ncer cells by targeting the pyruvate dehydrogenase complex. (PubMed id 20715114)1, 2 Blouin J.M....Bortoli S. (2011)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    10. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)

    (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: 5166 HGNC: 8812 AceView: PDK4 Ensembl:ENSG00000004799 euGenes: HUgn5166
    ECgene: PDK4 H-InvDB: PDK4

    (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 PDK4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PDK4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PDK4 gene:
    Search GeneIP for patents involving PDK4

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



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