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Aliases for PDK3 Gene

Aliases for PDK3 Gene

  • Pyruvate Dehydrogenase Kinase 3 2 3 5
  • Pyruvate Dehydrogenase Kinase, Isoenzyme 3 2 3
  • Pyruvate Dehydrogenase Kinase, Isozyme 3 2 3
  • EC 2.7.11.2 4 61
  • [Pyruvate Dehydrogenase (Acetyl-Transferring)] Kinase Isozyme 3, Mitochondrial 3
  • Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 3, Mitochondrial 3
  • Pyruvate Dehydrogenase Kinase Isoform 3 4
  • GS1-358P8.4 3
  • CMTX6 3
  • PDHK3 4

External Ids for PDK3 Gene

Previous GeneCards Identifiers for PDK3 Gene

  • GC0XP023311
  • GC0XP023142
  • GC0XP023685
  • GC0XP023844
  • GC0XP024243
  • GC0XP022225

Summaries for PDK3 Gene

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 3) is a Protein Coding gene. Diseases associated with PDK3 include Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 and Charcot-Marie-Tooth Neuropathy X Type 6. Among its related pathways are Metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. GO annotations related to this gene include protein kinase activity and pyruvate dehydrogenase (acetyl-transferring) kinase activity. An important paralog of this gene is PDK1.

UniProtKB/Swiss-Prot for PDK3 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDK3 Gene

Genomics for PDK3 Gene

Regulatory Elements for PDK3 Gene

Enhancers for PDK3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF024464 0.4 ENCODE 9.8 +0.2 164 2.3 ATF1 MLX ZNF133 ARID4B BRCA1 GLIS2 SP3 SP5 NFYC SMARCA4 ENSG00000260822 PDK3 SNRPEP9
GH0XF024473 0.5 Ensembl 9.7 +8.8 8786 0.8 ZFP64 ZNF493 ZNF121 ZNF138 ZNF354C FOS ZNF202 ZNF680 ZNF654 REST RPL9P7 POLA1 EIF2S3 PDK3 SNRPEP9
GH0XF024476 1.5 FANTOM5 Ensembl ENCODE 9.6 +14.1 14104 5.8 PKNOX1 ZNF133 ZNF76 ARID4B FEZF1 ZNF2 RAD21 ZBTB40 YY1 ZNF366 PDK3 ENSG00000260822 ZFX SNRPEP9
GH0XF024022 1.3 FANTOM5 Ensembl ENCODE 2 -440.3 -440294 4.3 ATF1 CREB3L1 SIN3A ZNF48 BRCA1 ZNF2 YY1 ZNF121 GLIS2 ELK1 SAT1 ZFX ACOT9 PDK3 KLHL15 GC0XP023953
GH0XF024471 0.7 Ensembl 0.4 +6.5 6480 0.2 PDK3 SNRPEP9
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PDK3 on UCSC Golden Path with GeneCards custom track

Promoters for PDK3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000071008 279 2201 ATF1 MLX ZNF133 ARID4B BRCA1 GLIS2 SP3 SP5 NFYC SMARCA4

Genomic Location for PDK3 Gene

Chromosome:
X
Start:
24,465,221 bp from pter
End:
24,550,466 bp from pter
Size:
85,246 bases
Orientation:
Plus strand

Genomic View for PDK3 Gene

Genes around PDK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDK3 Gene

Proteins for PDK3 Gene

  • Protein details for PDK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15120-PDK3_HUMAN
    Recommended name:
    [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial
    Protein Accession:
    Q15120
    Secondary Accessions:
    • B4DXG6

    Protein attributes for PDK3 Gene

    Size:
    406 amino acids
    Molecular mass:
    46939 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for PDK3 Gene

    Alternative splice isoforms for PDK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDK3 Gene

Selected DME Specific Peptides for PDK3 Gene

Q15120:
  • HIGSIDP
  • YFQGDLKLYS
  • YMYSTAP
  • NACEKTS
  • VYVPSHL
  • GGGVPLR
  • ELPVRLAN
  • IYLKALS
  • QYFLDRFY
  • SRLYARYF
  • GYGLPISRLYA

Post-translational modifications for PDK3 Gene

  • Ubiquitination at Lys 30
  • Modification sites at PhosphoSitePlus

Other Protein References for PDK3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for PDK3 Gene

Gene Families for PDK3 Gene

Protein Domains for PDK3 Gene

Graphical View of Domain Structure for InterPro Entry

Q15120

UniProtKB/Swiss-Prot:

PDK3_HUMAN :
  • Contains 1 histidine kinase domain.
  • Belongs to the PDK/BCKDK protein kinase family.
Domain:
  • Contains 1 histidine kinase domain.
Family:
  • Belongs to the PDK/BCKDK protein kinase family.
genes like me logo Genes that share domains with PDK3: view

Function for PDK3 Gene

Molecular function for PDK3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [pyruvate dehydrogenase (acetyl-transferring)] = ADP + [pyruvate dehydrogenase (acetyl-transferring)] phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by interaction with DLAT. Inhibited by AZD7545, dichloroacetate and radicicol.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to hypoxia. Up-regulated in response to fatty acids. Up-regulated by PPARD.

Enzyme Numbers (IUBMB) for PDK3 Gene

Gene Ontology (GO) - Molecular Function for PDK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 15861126
GO:0004674 protein serine/threonine kinase activity IDA 11486000
GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity IDA,TAS 11486000
GO:0005515 protein binding IPI 15861126
GO:0005524 ATP binding IEA,IDA 15861126
genes like me logo Genes that share ontologies with PDK3: view
genes like me logo Genes that share phenotypes with PDK3: view

Human Phenotype Ontology for PDK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PDK3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PDK3

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PDK3 Gene

Localization for PDK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDK3 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDK3 Gene COMPARTMENTS Subcellular localization image for PDK3 gene
Compartment Confidence
mitochondrion 5
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PDK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 7499431
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PDK3: view

Pathways & Interactions for PDK3 Gene

genes like me logo Genes that share pathways with PDK3: view

SIGNOR curated interactions for PDK3 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PDK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate TAS --
GO:0010906 regulation of glucose metabolic process IMP 22865452
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with PDK3: view

Drugs & Compounds for PDK3 Gene

(7) Drugs for PDK3 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Dihydrolipoate Experimental Pharma Target 0
Radicicol Experimental Pharma Target ATPase/kinase inhibitor, Hsp90 inhibitor. Antifungal antibiotic 0
AZD7545 Pharma PDHK inhibitor,potent and selective 0
CPI-613 Pharma PDH/α-KGDH inhibitor 0

(3) Additional Compounds for PDK3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Hydrogen phosphate
  • Biphosphate
  • Hydrogen orthophosphate
  • Hydrogen phosphate
  • Hydrogen phosphate anion
  • Hydrogen phosphate dianion
14066-19-4

(1) ApexBio Compounds for PDK3 Gene

Compound Action Cas Number
AZD7545 PDHK inhibitor,potent and selective 252017-04-2
genes like me logo Genes that share compounds with PDK3: view

Transcripts for PDK3 Gene

mRNA/cDNA for PDK3 Gene

Unigene Clusters for PDK3 Gene

Pyruvate dehydrogenase kinase, isozyme 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PDK3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDK3 Gene

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

Relevant External Links for PDK3 Gene

GeneLoc Exon Structure for
PDK3
ECgene alternative splicing isoforms for
PDK3

Expression for PDK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDK3 Gene

This gene is overexpressed in Whole Blood (x7.0) and Artery - Tibial (x4.6).

Protein differential expression in normal tissues from HIPED for PDK3 Gene

This gene is overexpressed in Fetal testis (13.2), Peripheral blood mononuclear cells (10.9), and Salivary gland (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDK3 Gene



Protein tissue co-expression partners for PDK3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDK3 Gene:

PDK3

SOURCE GeneReport for Unigene cluster for PDK3 Gene:

Hs.296031

mRNA Expression by UniProt/SwissProt for PDK3 Gene:

Q15120-PDK3_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain.
genes like me logo Genes that share expression patterns with PDK3: view

Primer Products

Orthologs for PDK3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDK3 34 35
  • 99.51 (n)
oppossum
(Monodelphis domestica)
Mammalia PDK3 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDK3 34 35
  • 92.65 (n)
cow
(Bos Taurus)
Mammalia PDK3 34 35
  • 92.61 (n)
rat
(Rattus norvegicus)
Mammalia Pdk3 34
  • 90.04 (n)
mouse
(Mus musculus)
Mammalia Pdk3 34 16 35
  • 89.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDK3 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDK3 34 35
  • 81.94 (n)
lizard
(Anolis carolinensis)
Reptilia PDK3 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdk3 34
  • 76.49 (n)
zebrafish
(Danio rerio)
Actinopterygii pdk3b 35
  • 80 (a)
OneToMany
pdk3a 34 35
  • 73.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pdk 36 34 35
  • 57.66 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010276 34
  • 57.07 (n)
worm
(Caenorhabditis elegans)
Secernentea pdhk-2 34 35
  • 57.12 (n)
ZK370.5 36
  • 53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27423g 34
  • 49.22 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER270W 34
  • 46.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PKP1 35
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PDK 34
  • 49.9 (n)
soybean
(Glycine max)
eudicotyledons Gma.3204 34
rice
(Oryza sativa)
Liliopsida Os07g0637300 34
  • 51.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pkp1 34
  • 51.87 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06760 34
  • 51.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3938 35
  • 47 (a)
OneToMany
Species where no ortholog for PDK3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDK3 Gene

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

Paralogs for PDK3 Gene

Paralogs for PDK3 Gene

(3) SIMAP similar genes for PDK3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for PDK3 Gene

genes like me logo Genes that share paralogs with PDK3: view

Variants for PDK3 Gene

Sequence variations from dbSNP and Humsavar for PDK3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs397515323 Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905], Pathogenic 24,503,479(+) CAACC(A/G)CATCT reference, missense
VAR_042297 A head & neck squamous cell carcinoma sample
rs72623011 Benign 24,465,434(+) GCGGG(C/G/T)CTGTG utr-variant-5-prime
rs10126588 -- 24,497,505(+) GGTCT(C/T)GAACT intron-variant
rs10127177 -- 24,479,740(+) aggtc(A/G)cgcca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDK3 Gene

Variant ID Type Subtype PubMed ID
dgv2239e212 CNV loss 25503493
dgv2240e212 CNV loss 25503493
nsv1119632 CNV deletion 24896259
nsv472183 CNV novel sequence insertion 20440878
nsv474045 CNV novel sequence insertion 20440878

Variation tolerance for PDK3 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDK3 Gene

Human Gene Mutation Database (HGMD)
PDK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDK3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDK3 Gene

Disorders for PDK3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PDK3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, x-linked dominant, 6
  • charcot-marie-tooth disease x-linked dominant 6
charcot-marie-tooth neuropathy x type 6
  • charcot-marie-tooth disease, x-linked dominant, 6
hereditary motor and sensory neuropathy via
  • charcot-marie-tooth disease type 6
x-linked charcot-marie-tooth disease
  • cmtx
charcot-marie-tooth disease
  • hereditary motor and sensory neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search PDK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDK3_HUMAN
  • 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. {ECO:0000269 PubMed:23297365}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PDK3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDK3
genes like me logo Genes that share disorders with PDK3: view

No data available for Genatlas for PDK3 Gene

Publications for PDK3 Gene

  1. Diversity of the pyruvate dehydrogenase kinase gene family in humans. (PMID: 7499431) Gudi R. … Popov K.M. (J. Biol. Chem. 1995) 2 3 4 22 64
  2. Induction of pyruvate dehydrogenase kinase-3 by hypoxia-inducible factor-1 promotes metabolic switch and drug resistance. (PMID: 18718909) Lu C.W. … Tsai S.J. (J. Biol. Chem. 2008) 3 4 22 64
  3. Crystal structure of an asymmetric complex of pyruvate dehydrogenase kinase 3 with lipoyl domain 2 and its biological implications. (PMID: 17532006) Devedjiev Y. … Vassylyev D.G. (J. Mol. Biol. 2007) 3 4 22 64
  4. Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex. (PMID: 15861126) Kato M. … Chuang D.T. (EMBO J. 2005) 3 4 22 64
  5. Interaction between the individual isoenzymes of pyruvate dehydrogenase kinase and the inner lipoyl-bearing domain of transacetylase component of pyruvate dehydrogenase complex. (PMID: 11978179) Tuganova A. … Popov K.M. (Biochem. J. 2002) 3 4 22 64

Products for PDK3 Gene

Sources for PDK3 Gene

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