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PDK3 Gene

protein-coding   GIFtS: 65
GCID: GC0XP024393

Pyruvate Dehydrogenase Kinase, Isozyme 3

(Previous names: pyruvate dehydrogenase kinase, isoenzyme 3)
  See PDK3-related disease
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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Aliases
Pyruvate Dehydrogenase Kinase, Isozyme 31 2     [Pyruvate Dehydrogenase (Acetyl-Transferring)] Kinase Isozyme 3,
Mitochondrial2
Pyruvate Dehydrogenase Kinase, Isoenzyme 31 2     Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 3, Mitochondrial2
EC 2.7.11.23 8     PDHK33
CMTX62 5     Pyruvate Dehydrogenase Kinase Isoform 33
GS1-358P8.42     

External Ids:    HGNC: 88111   Entrez Gene: 51652   Ensembl: ENSG000000679927   OMIM: 3009065   UniProtKB: Q151203   

Export aliases for PDK3 gene to outside databases

Previous GC identifers: GC0XP023311 GC0XP023142 GC0XP023685 GC0XP023844 GC0XP024243 GC0XP022225


(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 PDK3 Gene:
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the
overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the
tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose
metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and
phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate
dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is
predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Mar 2010)

GeneCards Summary for PDK3 Gene:
PDK3 (pyruvate dehydrogenase kinase, isozyme 3) is a protein-coding gene. Diseases associated with PDK3 include charcot-marie-tooth disease, x-linked dominant, 6. 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: PDK3_HUMAN, Q15120
Function: Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby
regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization
and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role
in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under
starvation. Plays a role in the generation of reactive oxygen species

Gene Wiki entry for PDK3 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:
NC_000023.11  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDK3 gene promoter:
         AhR   C/EBPbeta   POU6F1 (c2)   CUTL1   AP-2gamma   Arnt   FOXL1   AREB6   FOXO4   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDK3 promoter sequence
   Search Chromatin IP Primers for PDK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDK3


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

Entrez Gene cytogenetic band: Xp22.11   Ensembl cytogenetic band:  Xp22.11   HGNC cytogenetic band: Xp22.12

PDK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDK3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP024393:  view genomic region     (about GC identifiers)

Start:
24,483,338 bp from pter      End:
24,568,583 bp from pter
Size:
85,246 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: PDK3_HUMAN, Q15120 (See protein sequence)
Recommended Name: [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial precursor  
Size: 406 amino acids; 46939 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)
5 PDB 3D structures from and Proteopedia for PDK3:
1Y8N (3D)        1Y8O (3D)        1Y8P (3D)        2PNR (3D)        2Q8I (3D)    
Secondary accessions: B4DXG6
Alternative splicing: 2 isoforms:  Q15120-1   Q15120-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDK3: NX_Q15120

Explore proteomics data for PDK3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys30
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PDK3 (Q15120) (see all 11)
     VYVPSHL  HIGSIDP  IYLKALS  GGGVPLR 


    See PDK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001135858.1  NP_005382.1  

    ENSEMBL proteins: 
     ENSP00000368460   ENSP00000387536  
    Reactome Protein details: Q15120

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: pyruvate dehydrogenase kinase, isozyme 3
    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 Q15120

    ProtoNet protein and cluster: Q15120

    1 Blocks protein domain: IPB003594 ATP-binding region

    UniProtKB/Swiss-Prot: PDK3_HUMAN, Q15120
    Similarity: Belongs to the PDK/BCKDK protein kinase family
    Similarity: Contains 1 histidine kinase domain


    Find genes that share domains with PDK3           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: PDK3_HUMAN, Q15120
    Function: Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby
    regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization
    and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role
    in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under
    starvation. Plays a role in the generation of reactive oxygen species
    Catalytic activity: ATP + [pyruvate dehydrogenase (acetyl-transferring)] = ADP + [pyruvate dehydrogenase
    (acetyl-transferring)] phosphate
    Enzyme regulation: Activated by interaction with DLAT. Inhibited by AZD7545, dichloroacetate and radicicol
    Induction: Up-regulated in response to hypoxia. Up-regulated in response to fatty acids. Up-regulated by PPARD

         Enzyme Number (IUBMB): EC 2.7.11.21 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA15861126
    GO:0004674protein serine/threonine kinase activity IDA11486000
    GO:0004740pyruvate dehydrogenase (acetyl-transferring) kinase activity IDA11486000
    GO:0005515protein binding IPI15861126
    GO:0005524ATP binding IDA15861126
         
    Find genes that share ontologies with PDK3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PDK3:
     Decreased substrate adherent c  Synthetic lethal with c-Myc af 

    Animal Models:
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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
    PDK3_HUMAN, Q15120: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS7499431
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with PDK3           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 PDK3 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
    3Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    4Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with PDK3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PDK3
        eNOS Signaling


    1 Reactome Pathway for PDK3
        Regulation of pyruvate dehydrogenase (PDH) complex


        Pathway & Disease-focused RT2 Profiler PCR Array including PDK3: 
              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PDK3

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

    Selected Interacting proteins for PDK3 (Q151202, 3 ENSP000003875364) via UniProtKB, MINT, STRING, and/or I2D (see all 269)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    DLATP105153, ENSP000002803464I2D: score=2 STRING: ENSP00000280346
    EGFRP005333, ENSP000002754934I2D: score=2 STRING: ENSP00000275493
    AICDAQ9GZX73, ENSP000002293354I2D: score=1 STRING: ENSP00000229335
    DLDP096222, ENSP000002054024MINT-8079030 STRING: ENSP00000205402
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006glucose metabolic process IEA--
    GO:0006090pyruvate metabolic process TAS--
    GO:0010510regulation of acetyl-CoA biosynthetic process from pyruvate TAS--
    GO:0010906regulation of glucose metabolic process IMP--
    GO:0018105peptidyl-serine phosphorylation IDA11486000

    Find genes that share ontologies with PDK3           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 Tocris compounds for PDK3

    3 HMDB Compounds for PDK3    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--

    2 DrugBank Compounds for PDK3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dihydrolipoic Acid-- 462-20-4target--10592235
    Radicicol-- --target--10592235

    4 Novoseek inferred chemical compound relationships for PDK3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrolipoamide 77.8 1 11486000 (1)
    pyruvate 75.4 11 7499431 (2), 18718909 (2), 11485553 (1), 17532006 (1) (see all 7)
    adp 45.5 2 15861126 (2)
    atp 14.2 2 15861126 (2)



    Find genes that share compounds with PDK3           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 PDK3 gene (2 alternative transcripts): 
    NM_001142386.2  NM_005391.4  

    Unigene Cluster for PDK3:

    Pyruvate dehydrogenase kinase, isozyme 3
    Hs.296031  [show with all ESTs]
    Unigene Representative Sequence: NM_001142386
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379162(uc004dbg.3) ENST00000441463(uc004dbh.3) ENST00000493226

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    hsa-miR-411* hsa-miR-3938 hsa-miR-520f hsa-miR-106a hsa-miR-138-2* hsa-miR-3921 hsa-miR-298 hsa-miR-508-5p
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    Additional mRNA sequence: 

    AK301965.1 BC015948.1 BC038512.2 L42452.1 

    8 DOTS entries:

    DT.306040  DT.441918  DT.311814  DT.109393  DT.75164534  DT.99974221  DT.121323578  DT.95153934 

    Selected AceView cDNA sequences (see all 94):

    AI143333 AI146557 BF939522 BU069975 AA335945 CR606226 AI080664 BX090714 
    AA156492 AW594168 BU789702 AI139184 CR626205 AI149600 R85384 AI028149 
    BU618322 BU783198 AA825489 AL525762 BX350578 N94761 AI418611 BU163780 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PDK3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                          -                                                               
    SP2:                          -           -                                                   
    SP3:                                                                                          


    ECgene alternative splicing isoforms for PDK3

    (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)
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    PDK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAATTCTG
    PDK3 Expression
    About this image


    PDK3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    PDK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDK3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.296031

    UniProtKB/Swiss-Prot: PDK3_HUMAN, Q15120
    Tissue specificity: Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain

        Pathway & Disease-focused RT2 Profiler PCR Array including PDK3: 
              Glucose Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDK3

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PDK3 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdk31 , 5 pyruvate dehydrogenase kinase, isoenzyme 31, 5 89.88(n)1
    97.11(a)1
      X (41.34 cM)5
    2369001  NM_145630.21  NP_663605.11 
     937646075 
    chicken
    (Gallus gallus)
    Aves PDK31 pyruvate dehydrogenase kinase, isozyme 3 81.94(n)
    92.86(a)
      418595  NM_001006259.1  NP_001006259.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDK36
    pyruvate dehydrogenase kinase, isozyme 3
    85(a)
    1 ↔ 1
    3(125856853-125989894)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pdk31 pyruvate dehydrogenase kinase, isozyme 3 76.49(n)
    85.15(a)
      100135009  NM_001113682.1  NP_001107154.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pdk3a1 pyruvate dehydrogenase kinase, isozyme 3a 73.02(n)
    82.43(a)
      560068  XM_005162757.1  XP_005162814.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pdk1 , 3 pyruvate dehydrogenase (lipoamide)
    kinase3
    Pyruvate dehydrogenase kinase1
    59(a)3
    57.66(n)1
    59.58(a)1
      359701  NM_001103770.21  NP_001097240.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK370.53
    pdhk-21
    Phosphoprotein3
    pdhk-21
    53(a)3
    57.12(n)1
    54.17(a)1
      III(8809765-8813134)3
    1762261  NM_066527.31  NP_498928.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PKP16
    Mitochondrial protein kinase involved in negative ...
    23(a)
    1 → many
    IX(275108-276292) YIL042C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PDK1 PDK 49.9(n)
    42.06(a)
      819826  NM_111524.3  NP_187300.3 
    rice
    (Oryza sativa)
    Liliopsida Os07g06373001 Os07g0637300 51.3(n)
    42.94(a)
      4344039  NM_001066936.1  NP_001060401.1 


    ENSEMBL Gene Tree for PDK3 (if available)
    TreeFam Gene Tree for PDK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDK3 gene
    BCKDK2  PDK12  PDK42  PDK22  
    3 SIMAP similar genes for PDK3 using alignment to 1 protein entry:     PDK3_HUMAN:
    PDK2    PDK4    PDK1

    Find genes that share paralogs with PDK3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PDK3
    PGOHUM00000248255


    (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 PDK3 (see all 1079)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0422974
    A head & neck squamous cell carcinoma sample4--see VAR_0422972 E A mis40--------
    VAR_0700824
    Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6)4--see VAR_0700822 R H mis40--------
    rs1512894811,2
    --22223147(+) ACAGAA/GTGGAT 1 -- us2k10--------
    rs1838247911,2
    --24396222(+) AGAAAG/TATCAG 2 -- us2k10--------
    rs1874243401,2
    --24396229(+) TCAGCA/GCTTTG 2 -- us2k10--------
    rs22145621,2
    C--24396941(+) GCTGCA/CTAAAC 2 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1919632251,2
    --24397176(+) ATTCAC/TTCATA 2 -- us2k10--------
    rs1856595721,2
    --24397213(+) AGCCCG/TGAGTT 2 -- us2k10--------
    rs1395738451,2
    --24397475(+) GGGTAC/TGAAAG 2 -- us2k10--------
    rs1906075771,2
    --24397515(+) TTCCAA/GTGGTA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PDK3 (24483338 - 24568583 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PDK3: --
    Human Gene Mutation Database (HGMD): PDK3
    Locus Specific Mutation Databases (LSDB): PDK3

    3 Site Specific Mutation Identification with PCR Assays for PDK3:
    Cosmic IdAA Change
    78288p.V193M
    12894p.S362*
    21025p.E219A
    SeqTarget long-range PCR primers for resequencing PDK3
    DNA2.0 Custom Variant and Variant Library Synthesis for PDK3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300906   
    OMIM disorders: 300905  
    UniProtKB/Swiss-Prot: PDK3_HUMAN, Q15120
  • Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905]: A form of Charcot-Marie-Tooth
    disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy,
    initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs)
    (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies
    characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for PDK3:    
    About MalaCards
    charcot-marie-tooth disease, x-linked dominant, 6


    Find genes that share disorders with PDK3           About GenesLikeMe


    Export disorders for PDK3 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 PDK3 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with PDK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diversity of the pyruvate dehydrogenase kinase gene family in humans. (PubMed id 7499431)1, 2, 3, 9 Gudi R.... Popov K.M. (J. Biol. Chem. 1995)
    2. Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex. (PubMed id 15861126)1, 2, 9 Kato M.... Chuang D.T. (EMBO J. 2005)
    3. Induction of pyruvate dehydrogenase kinase-3 by hypoxia-inducible factor-1 promotes metabolic switch and drug resistance. (PubMed id 18718909)1, 2, 9 Lu C.W.... Tsai S.J. (J. Biol. Chem. 2008)
    4. Interaction between the individual isoenzymes of pyruvate dehydrogenase kinase and the inner lipoyl-bearing domain of transacetylase component of pyruvate dehydrogenase complex. (PubMed id 11978179)1, 2, 9 Tuganova A.... Popov K.M. (Biochem. J. 2002)
    5. Site specificity of four pyruvate dehydrogenase kinase isoenzymes toward the three phosphorylation sites of human pyruvate dehydrogenase. (PubMed id 11486000)1, 2, 9 Korotchkina L.G. and Patel M.S. (J. Biol. Chem. 2001)
    6. Crystal structure of an asymmetric complex of pyruvate dehydrogenase kinase 3 with lipoyl domain 2 and its biological implications. (PubMed id 17532006)1, 2, 9 Devedjiev Y.... Vassylyev D.G. (J. Mol. Biol. 2007)
    7. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. (PubMed id 23297365)1, 2 Kennerson M.L....Nicholson G.A. (Hum. Mol. Genet. 2013)
    8. Inactivation of the HIF-1alpha/PDK3 signaling axis drives melanoma toward mitochondrial oxidative metabolism and potentiates the therapeutic activity of pro-oxidants. (PubMed id 22865452)1, 2 Kluza J.... Marchetti P. (Cancer Res. 2012)
    9. Three members of the human pyruvate dehydrogenase kinase gene family are direct targets of the peroxisome proliferator-activated receptor beta/delta. (PubMed id 17669420)1, 2 Degenhardt T....Carlberg C. (J. Mol. Biol. 2007)
    10. Distinct structural mechanisms for inhibition of pyruvate dehydrogenase kinase isoforms by AZD7545, dichloroacetate, and radicicol. (PubMed id 17683942)1, 2 Kato M.... Chuang D.T. (Structure 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 5165 HGNC: 8811 AceView: PDK3 Ensembl:ENSG00000067992 euGenes: HUgn5165
    ECgene: PDK3 H-InvDB: PDK3

    (According to HUGE)
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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 PDK3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PDK3 gene:
    Search GeneIP for patents involving PDK3

    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
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