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

PDK3 Gene

protein-coding   GIFtS: 65
GCID: GC0XP024393

Pyruvate Dehydrogenase Kinase, Isozyme 3

(Previous names: pyruvate dehydrogenase kinase, isoenzyme 3)
  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 31 2     Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 3, Mitochondrial2
Pyruvate Dehydrogenase Kinase, Isoenzyme 31 2     PDHK33
EC 2.7.11.23 8     Pyruvate Dehydrogenase Kinase Isoform 33
CMTX62     

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

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 periventricular nodular heterotopia, and hypoxia, 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: 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167197.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PDK3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: PDK3_HUMAN, Q15120 (See protein sequence)
Recommended Name: [Pyruvate dehydrogenase [lipoamide]] 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)
Subcellular location: Mitochondrion matrix
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15120

  • 4/11 DME Specific Peptides for PDK3 (Q15120) (see all 11)
     VYVPSHL  HIGSIDP  IYLKALS  GGGVPLR 

    PDK3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PDK3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001135858.1  NP_005382.1  

    ENSEMBL proteins: 
     ENSP00000368460   ENSP00000387536  
    Reactome Protein details: Q15120
    Human Recombinant Protein Products for PDK3: 
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    PDK3 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 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


    PDK3 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: 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

         Enzyme Number (IUBMB): EC 2.7.11.21 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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
         
    PDK3 for ontologies           About GeneDecksing


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

    Animal Models:
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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 PDK3 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 PDK3
        eNOS Signaling


    5        Reactome Pathways for PDK3
        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



    PDK3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDK3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/253 Interacting proteins for PDK3 (Q151202, 3 ENSP000003875364) via UniProtKB, MINT, STRING, and/or I2D (see all 253)
    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
    DLDP096222, ENSP000002054024MINT-8079030 STRING: ENSP00000205402
    PDHA1P085593, ENSP000003943824I2D: score=1 STRING: ENSP00000394382
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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

    PDK3 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

    PDK3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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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)

    Search CenterWatch for drugs/clinical trials and news about PDK3

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/94 AceView cDNA sequences (see all 94):

    AI080664 AI143333 BF939522 AI139184 CR606226 AW594168 BU069975 AA335945 
    CR626205 AA156492 BX090714 AI146557 BU789702 NM_005391 AA625360 AL121429 
    BG717206 R85384 N94736 BU618322 CK902597 AW263542 AA156158 AL525762 

    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™, 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

    PDK3 expression in normal human tissues (normalized intensities)      PDK3 embryonic expression: see
    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 
     5/22 selected tissues (see all 22) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             neutrophils   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon

    See PDK3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDK3

    SOURCE GeneReport for Unigene cluster: Hs.296031

    UniProtKB/Swiss-Prot: PDK3_HUMAN, Q15120
    Tissue specificity: Found almost exclusively in heart and skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Array including PDK3: 
              Glucose Metabolism in human mouse rat

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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PDK3 gene from 8/16 species (see all 16)    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
    Uncharacterized protein
    84(a)
    1 ↔ 1
    3(125856853-125989894)
    zebrafish
    (Danio rerio)
    Actinopterygii pdk3a1 pyruvate dehydrogenase kinase, isozyme 3a 73.02(n)
    82.43(a)
      560068  XM_683459.4  XP_688551.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pdk1 , 3 pyruvate dehydrogenase (lipoamide)
    kinase3
    Pyruvate dehydrogenase kinase1
    59(a)3
    57.61(n)1
    59.89(a)1
      359701  NM_001103770.11  NP_001097240.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK370.53
    pdhk-21
    Phosphoprotein3
    Protein PDHK-21
    53(a)3
    56.75(n)1
    54.16(a)1
      III(8809765-8813134)3
    1762261  NM_066527.21  NP_498928.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PKP26
    Mitochondrial protein kinase that negatively regul...
    19(a)
    1 → many
    VII(392223-393698)
    soybean
    (Glycine max)
    eudicotyledons Gma.32042 Transcribed sequence with moderate similarity to protein more 76.26(n)    CA936210.1 


    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)
    About This Section
    Paralogs for PDK3 gene
    BCKDK2  PDK42  PDK12  PDK22  
    3 SIMAP similar genes for PDK3 using alignment to 1 protein entry:     PDK3_HUMAN:
    PDK2    PDK4    PDK1

    PDK3 for paralogs           About GeneDecksing


    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) 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

    10/1076 SNPs in PDK3 are shown (see all 1076)    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--------
    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--------
    rs1998786851,2
    C--24397530(+) GGGGT-/GGGGGG 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 SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300906    OMIM disorders: --

    5 diseases for PDK3:    About MalaCards
    periventricular nodular heterotopia    hypoxia    retinitis    melanoma
    prostatitis


    PDK3 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for PDK3 gene, integrated from 9 sources (see all 33):
    (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. (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. (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. (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. (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. (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. (2007)
    7. 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. (2012)
    8. 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. (2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Marked differences between two isoforms of human pyruvate dehydrogenase kinase. (PubMed id 10748134)1, 2 Baker J.C....Roche T.E. (2000)

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

    (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 PDK3 Pharmacogenomics, SNPs, Pathways

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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