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 ... See more...

Aliases for PDK3 Gene

Aliases for PDK3 Gene

  • Pyruvate Dehydrogenase Kinase 3 2 3 5
  • [Pyruvate Dehydrogenase (Acetyl-Transferring)] Kinase Isozyme 3, Mitochondrial 3 4
  • Pyruvate Dehydrogenase Kinase, Isoenzyme 3 2 3
  • Pyruvate Dehydrogenase Kinase, Isozyme 3 2 3
  • EC 2.7.11.2 4 50
  • Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 3, Mitochondrial 3
  • Pyruvate Dehydrogenase Kinase Isoform 3 4
  • GS1-358P8.4 3
  • CMTX6 3
  • PDHK3 4
  • PDK3 5

External Ids for PDK3 Gene

Previous GeneCards Identifiers for PDK3 Gene

  • GC0XP023311
  • GC0XP023142
  • GC0XP023685
  • GC0XP023844
  • GC0XP024243
  • GC0XP024393
  • 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 Disease. Among its related pathways are Signaling by Retinoic Acid and Signaling by GPCR. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDK3 Gene

Genomics for PDK3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDK3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ024464 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 260.4 +0.7 731 3.6 EZH2 MYC ZNF580 BRCA1 POLR2A NFIC ZBTB10 HES1 BHLHE40 ZNF341 PDK3 HSALNG0137059 PCYT1B
GH0XJ024477 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 9.6 +14.5 14508 4.9 SIN3A MAFF ZNF316 PRDM6 BHLHE40 MYC MAX ELF1 MAFK MTA3 HSALNG0137059 PDK3 ZFX PCYT1B
GH0XJ024493 Enhancer 1 Ensembl ENCODE 8.4 +29.3 29331 3.6 ZNF580 CEBPA ATF3 YY1 FEZF1 FOXA2 RXRA SP2 SAP130 ZNF843 HSALNG0137060 PDK3 HSALNG0137059 PCYT1B
GH0XJ024491 Enhancer 0.8 Ensembl ENCODE 9.4 +26.7 26730 0.8 ZNF217 CTBP1 ZNF316 NFE2 SMARCE1 FOXA1 DPF2 ZNF687 ZFX FOS PDK3 SAT1 HSALNG0137060 HSALNG0137059 PCYT1B
GH0XJ024424 Enhancer 0.9 Ensembl ENCODE 7.5 -38.6 -38613 5.1 SIX5 CEBPA MBD2 ZNF217 THAP11 HCFC1 SAP130 CREM SUZ12 ZNF143 PDK3 piR-47410-015 RF00017-7642 SUPT20HL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDK3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDK3

Top Transcription factor binding sites by QIAGEN in the PDK3 gene promoter:
  • AhR
  • AP-2gamma
  • AREB6
  • Arnt
  • C/EBPbeta
  • CUTL1
  • FOXL1
  • FOXO4
  • POU6F1 (c2)
  • Sox9

Genomic Locations for PDK3 Gene

Latest Assembly
chrX:24,465,270-24,550,466
(GRCh38/hg38)
Size:
85,197 bases
Orientation:
Plus strand

Previous Assembly
chrX:24,483,403-24,568,583
(GRCh37/hg19 by Entrez Gene)
Size:
85,181 bases
Orientation:
Plus strand

chrX:24,483,338-24,557,954
(GRCh37/hg19 by Ensembl)
Size:
74,617 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 Lys30
  • Modification sites at PhosphoSitePlus

Other Protein References for PDK3 Gene

Domains & Families for PDK3 Gene

Gene Families for PDK3 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PDK3 Gene

InterPro:
Blocks:
  • ATP-binding region, ATPase-like

Suggested Antigen Peptide Sequences for PDK3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60191, highly similar to Pyruvate dehydrogenase (lipoamide) kinase isozyme 3 (EC 2.7.11.2) (B4DXG6_HUMAN)
  • Pyruvate dehydrogenase kinase isoform 3 (PDK3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15120

UniProtKB/Swiss-Prot:

PDK3_HUMAN :
  • Belongs to the PDK/BCKDK protein kinase family.
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 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 CatalyticActivity:
Reaction=ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit]; Xref=Rhea:RHEA:23052, Rhea:RHEA-COMP:13689, Rhea:RHEA-COMP:13690, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.2; Evidence={ECO:0000269|PubMed:10748134, ECO:0000269|PubMed:11486000, ECO:0000269|PubMed:16436377};.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to hypoxia. Up-regulated in response to fatty acids. Up-regulated by PPARD.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by interaction with DLAT. Inhibited by AZD7545, dichloroacetate and radicicol.

Enzyme Numbers (IUBMB) for PDK3 Gene

Phenotypes From GWAS Catalog for PDK3 Gene

Gene Ontology (GO) - Molecular Function for PDK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IDA 15861126
GO:0004674 protein serine/threonine kinase activity IBA,IDA 11486000
GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity TAS,IDA 11486000
GO:0005515 protein binding IPI 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 Models for research

  • Taconic Biosciences Mouse Models for PDK3

miRNA for PDK3 Gene

miRTarBase miRNAs that target PDK3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDK3

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDK3 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion TAS,IDA --
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

Pathways by source for PDK3 Gene

1 Qiagen pathway for PDK3 Gene
  • eNOS Signaling

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:0006468 protein phosphorylation IBA 21873635
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate IMP,TAS --
GO:0010906 regulation of glucose metabolic process IMP 22865452
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
Dihydrolipoate Experimental Pharma Target 0
Radicicol Experimental Pharma Target ATPase/kinase inhibitor, Hsp90 inhibitor. Antifungal antibiotic 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0
CPI-613 Investigational Pharma PDH/α-KGDH inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0

(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

Drug products for research

Transcripts for PDK3 Gene

mRNA/cDNA for PDK3 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDK3

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

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, MaxQB, and MOPED for PDK3 Gene



Protein tissue co-expression partners for PDK3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for PDK3 Gene

  • Liver(4.5)
  • Skin(4.2)
  • Nervous system(3.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDK3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PDK3: view

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 29 30
  • 99.51 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PDK3 30
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PDK3 29 30
  • 92.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PDK3 29 30
  • 92.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pdk3 29
  • 90.04 (n)
Mouse
(Mus musculus)
Mammalia Pdk3 29 16 30
  • 89.88 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PDK3 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PDK3 29 30
  • 81.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PDK3 30
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pdk3 29
  • 76.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii pdk3b 30
  • 80 (a)
OneToMany
pdk3a 29 30
  • 73.02 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Pdk 29 30 31
  • 57.66 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010276 29
  • 57.07 (n)
Worm
(Caenorhabditis elegans)
Secernentea pdhk-2 29 30
  • 57.12 (n)
OneToMany
ZK370.5 31
  • 53 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27423g 29
  • 49.22 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER270W 29
  • 46.84 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PKP1 30
  • 23 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PDK 29
  • 49.9 (n)
Soybean
(Glycine max)
eudicotyledons Gma.3204 29
Rice
(Oryza sativa)
Liliopsida Os07g0637300 29
  • 51.3 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pkp1 29
  • 51.87 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06760 29
  • 51.48 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3938 30
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PDK3: view image
Alliance of Genome Resources:
Additional Orthologs for PDK3

Paralogs for PDK3 Gene

Paralogs for PDK3 Gene

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

  • PDK3_HUMAN

Pseudogenes.org Pseudogenes for PDK3 Gene

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

Variants for PDK3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDK3 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1022450 Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 24,533,999(+) C/T
NM_005391.5(PDK3):c.1148C>T (p.Thr383Met)
MISSENSE
1024498 Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 24,505,301(+) A/G
NM_005391.5(PDK3):c.595+3A>G
INTRON
1034744 Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 24,505,280(+) G/A
NM_005391.5(PDK3):c.577G>A (p.Val193Met)
MISSENSE
1036293 Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 24,534,062(+) C/T
NM_005391.5(PDK3):c.1211C>T (p.Ala404Val)
MISSENSE
1045059 Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 24,534,056(+) A/G
NM_005391.5(PDK3):c.1205A>G (p.Tyr402Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDK3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for PDK3 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PDK3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PDK3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, x-linked dominant, 6
  • cmtx6
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
x-linked charcot-marie-tooth disease
  • cmtx
tooth disease
  • teeth disease
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for 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 KM (The Journal of biological chemistry 1995) 2 3 4 22
  2. 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. (PMID: 23297365) Kennerson ML … Nicholson GA (Human molecular genetics 2013) 3 4 72
  3. Induction of pyruvate dehydrogenase kinase-3 by hypoxia-inducible factor-1 promotes metabolic switch and drug resistance. (PMID: 18718909) Lu CW … Tsai SJ (The Journal of biological chemistry 2008) 3 4 22
  4. Crystal structure of an asymmetric complex of pyruvate dehydrogenase kinase 3 with lipoyl domain 2 and its biological implications. (PMID: 17532006) Devedjiev Y … Vassylyev DG (Journal of molecular biology 2007) 3 4 22
  5. Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex. (PMID: 15861126) Kato M … Chuang DT (The EMBO journal 2005) 3 4 22

Products for PDK3 Gene

Sources for PDK3 Gene