Free for academic non-profit institutions. Other users need a Commercial license
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
External Ids for PDK3 Gene
- HGNC: 8811
- Entrez Gene: 5165
- Ensembl: ENSG00000067992
- OMIM: 300906
- UniProtKB: Q15120
Previous GeneCards Identifiers for PDK3 Gene
- GC0XP023311
- GC0XP023142
- GC0XP023685
- GC0XP023844
- GC0XP024243
- GC0XP024393
- GC0XP022225
Summaries 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 Pyruvate metabolism and Citric Acid (TCA) cycle 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.
Additional gene information for PDK3 Gene
- HGNC(8811)
- Entrez Gene(5165)
- Ensembl(ENSG00000067992)
- OMIM(300906)
- UniProtKB(Q15120)
- Open Targets Platform(ENSG00000067992)
- Monarch Initiative
- Search for PDK3 at DataMed
- Search for PDK3 at HumanCyc
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 | 610.4 | +0.7 | 680 | 3.8 | RNF2 CREB1 PRDM10 ZNF629 POLR2A BACH1 LARP7 PRDM1 RBFOX2 PATZ1 | PDK3 SNRPEP9 PCYT1B | |
| GH0XJ024477 | Enhancer | 0.9 | FANTOM5 ENCODE | 9.6 | +14.6 | 14557 | 4.9 | RNF2 FOS POLR2A PKNOX1 SIN3A RUNX3 ZNF316 ZSCAN5C ZBTB40 MAFF | PDK3 ZFX SNRPEP9 PCYT1B | |
| GH0XJ024493 | Enhancer | 1 | Ensembl ENCODE | 8.4 | +29.7 | 29680 | 3.4 | PRDM10 ZNF629 ZNF692 FOXA1 PRDM1 SP1 SOX6 CEBPA SP2 ZXDB | PDK3 SNRPEP9 PCYT1B | |
| GH0XJ024491 | Enhancer | 0.8 | Ensembl ENCODE | 9.4 | +26.8 | 26779 | 0.8 | FOXA1 ATF7 ZFX RFX1 CTBP1 NFE2 ZNF316 ZNF217 GATA3 DPF2 | PDK3 SAT1 SNRPEP9 PCYT1B | |
| GH0XJ024424 | Enhancer | 0.9 | Ensembl ENCODE | 7.5 | -38.6 | -38564 | 5.1 | SIX5 FOXA1 ZNF143 IRF2 CEBPA SCRT2 ZBTB25 ZNF217 HCFC1 CREM | PDK3 piR-47410-015 RF00017-8247 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
Genomic Locations for PDK3 Gene
- chrX:24,465,221-24,550,466
- (GRCh38/hg38)
- Size:
- 85,246 bases
- Orientation:
- Plus strand
- chrX:24,483,338-24,568,583
- (GRCh37/hg19)
- 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:
-
- Xp22.11 by HGNC
- Xp22.11 by Entrez Gene
- Xp22.11 by Ensembl
PDK3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for PDK3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- GeneTex Anti-PDK3 antibody [N1C2] and Anti-PDK3 antibody
- Novus Biologicals Antibodies for PDK3
-
Abcam antibodies for PDK3
- Invitrogen Antibodies for PDK3 (AFLGC-PDK3)
-
Boster Bio Antibodies for PDK3
-
Santa Cruz Biotechnology (SCBT) Antibodies for PDK3
- Sino Biological Antibodies for PDK3
Protein Products
-
OriGene Purified Proteins for PDK3
- Search Origene for MassSpec and Protein Over-expression Lysates for PDK3
- Origene Custom Protein Services for PDK3
-
Abcam proteins for PDK3
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
- ProtoNet:
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- Family:
-
- Belongs to the PDK/BCKDK protein kinase family.
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=[pyruvate dehydrogenase E1 alpha subunit]-L-serine + ATP = [pyruvate dehydrogenase E1 alpha subunit]-O-phospho-L-serine + ADP + H(+); 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
| 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 |
Phenotypes for PDK3 Gene
- GenomeRNAi human phenotypes for PDK3:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased ionizing radiation sensitivity
- Decreased viability
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased senescence-associated beta-galactosidase protein expression after pRB stimulation
- Decreased substrate adherent cell growth
Animal Model Products
-
Taconic Biosciences Mouse Models for PDK3
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PDK3 - Select products 50% OFF >
- * PDK3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PDK3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDK3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDK3
miRNA for PDK3 Gene
- miRTarBase miRNAs that target PDK3
-
- mmu-miR-758-3p (MIRT007568)
- hsa-miR-655-3p (MIRT486618)
- hsa-miR-374c-5p (MIRT486619)
- hsa-miR-6765-3p (MIRT486620)
- hsa-miR-3622b-3p (MIRT486621)
- hsa-miR-3622a-3p (MIRT486622)
- hsa-miR-369-3p (MIRT486623)
- hsa-miR-892c-3p (MIRT486624)
- hsa-miR-4676-3p (MIRT486625)
- hsa-miR-452-5p (MIRT486626)
- hsa-miR-1273e (MIRT643470)
- hsa-miR-377-3p (MIRT643471)
- hsa-miR-3200-3p (MIRT643472)
- hsa-miR-362-3p (MIRT643473)
- hsa-miR-329-3p (MIRT643474)
- hsa-miR-6516-5p (MIRT700957)
- hsa-miR-455-3p (MIRT700958)
- hsa-miR-7703 (MIRT700959)
- hsa-miR-6720-5p (MIRT700960)
- hsa-miR-6512-3p (MIRT700961)
- hsa-miR-1227-3p (MIRT700962)
- hsa-miR-658 (MIRT700963)
- hsa-miR-4252 (MIRT700964)
- hsa-miR-6499-3p (MIRT700965)
- hsa-miR-6086 (MIRT700966)
- hsa-miR-377-5p (MIRT700967)
- hsa-miR-4537 (MIRT700968)
- hsa-miR-1273f (MIRT700969)
- hsa-miR-4793-3p (MIRT700970)
- hsa-miR-766-3p (MIRT700971)
- hsa-miR-1273g-3p (MIRT700972)
- hsa-miR-508-5p (MIRT700973)
- hsa-miR-6818-3p (MIRT707957)
- hsa-miR-4684-5p (MIRT707958)
- hsa-miR-593-3p (MIRT707959)
- hsa-miR-6895-3p (MIRT707960)
- hsa-miR-196a-3p (MIRT707961)
- hsa-miR-5699-3p (MIRT707962)
- hsa-miR-4421 (MIRT707963)
- hsa-miR-339-5p (MIRT707964)
- hsa-miR-10b-5p (MIRT707965)
- hsa-miR-10a-5p (MIRT707966)
- hsa-miR-6732-3p (MIRT707967)
- hsa-miR-5007-3p (MIRT708952)
- hsa-miR-3160-5p (MIRT708953)
- hsa-miR-4262 (MIRT708954)
- hsa-miR-181d-5p (MIRT708955)
- hsa-miR-181c-5p (MIRT708956)
- hsa-miR-181b-5p (MIRT708957)
- hsa-miR-181a-5p (MIRT708958)
- hsa-miR-3190-5p (MIRT765379)
- hsa-miR-340-3p (MIRT765729)
- hsa-miR-3613-3p (MIRT765996)
- hsa-miR-3926 (MIRT767723)
- hsa-miR-4786-5p (MIRT772313)
- hsa-miR-548s (MIRT774516)
- hsa-miR-6771-3p (MIRT778639)
- hsa-miR-6827-3p (MIRT779927)
- hsa-miR-6849-3p (MIRT780318)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDK3
- Browse OriGene Inhibitory RNA Products For PDK3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDK3
Clone Products
- Applied Biological Materials (abm): Clones for PDK3 - Select products 50% OFF >
- * PDK3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PDK3
- Addgene plasmids for PDK3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDK3
Cell Line Products
-
Horizon Cell Lines for PDK3
No data available for Phenotypes From GWAS Catalog , 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 4 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Mitochondria (3)
- Nucleoli (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005739 | mitochondrion | TAS,IDA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for PDK3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pyruvate metabolism and Citric Acid (TCA) cycle | ||
| 2 | Nanog in Mammalian ESC Pluripotency |
eNOS Signaling
.48
|
|
| 3 | Metabolism |
.40
|
|
| 4 | Signaling by GPCR | ||
| 5 | Signaling by Retinoic Acid | ||
Pathways by source for PDK3 Gene
7 Reactome pathways for PDK3 Gene
1 Qiagen pathway for PDK3 Gene
- eNOS Signaling
| 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 | IMP,TAS | -- |
| GO:0010906 | regulation of glucose metabolic process | IMP | 22865452 |
| GO:0016310 | phosphorylation | IEA | -- |
Drugs & Compounds for PDK3 Gene
| 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 | |
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 | ||
| CPI-613 | Investigational | Pharma | PDH/α-KGDH inhibitor | 0 | ||
| AZD7545 | Pharma | PDHK inhibitor,potent and selective | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 | |||
| Phosphate |
|
14066-19-4, 14265-44-2 |
|
(1) ApexBio Compounds for PDK3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| AZD7545 | PDHK inhibitor,potent and selective | 252017-04-2 |
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 :
-
- ENST00000379162 1809 nts (view in UCSC)
- ENST00000493226 396 nts (view in UCSC)
- ENST00000568479 12720 nts (view in UCSC)
- ENST00000648777 4720 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PDK3 - Select products 50% OFF >
- * PDK3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PDK3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDK3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDK3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDK3
- Browse OriGene Inhibitory RNA Products For PDK3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDK3
Clone Products
- Applied Biological Materials (abm): Clones for PDK3 - Select products 50% OFF >
- * PDK3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PDK3
- Addgene plasmids for PDK3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDK3
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Neural Tube (Nervous System)
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Lung (Respiratory System)
- Kidney (Urinary System)
- Bone (Muscoskeletal System)
- Thymus (Hematopoietic System)
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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDK3
SOURCE GeneReport for Unigene cluster for PDK3 Gene:
Hs.296031mRNA 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(3.8)
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
Primer Products
-
OriGene qPCR primer pairs for PDK3
-
OriGene qPCR primer pairs and template standards for PDK3
Gene Expression Assay Products
Orthologs for PDK3 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PDK3 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PDK3 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PDK3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PDK3 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pdk3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pdk3 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PDK3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PDK3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PDK3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pdk3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pdk3b 31 |
|
OneToMany | |
| pdk3a 30 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pdk 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010276 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | pdhk-2 30 31 |
|
OneToMany | |
| ZK370.5 32 |
|
|
|||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F27423g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER270W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PKP1 31 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PDK 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.3204 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os07g0637300 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pkp1 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU06760 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3938 31 |
|
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
Paralogs for PDK3 Gene
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 |
|---|---|---|---|---|---|
| 648471 | Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 | 24,503,492(+) | C/T | SYNONYMOUS_VARIANT | |
| 650052 | Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 | 24,505,285(+) | G/A | SYNONYMOUS_VARIANT | |
| 650892 | Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 | 24,503,480(+) | C/T | SYNONYMOUS_VARIANT | |
| 657567 | Uncertain Significance: Charcot-Marie-Tooth disease, X-linked dominant, 6 | 24,527,634(+) | A/G | MISSENSE_VARIANT | |
| 696106 | Benign: not provided | 24,534,000(+) | G/A | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDK3 Gene
Disorders for PDK3 Gene
(4) MalaCards diseases for PDK3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, x-linked dominant, 6 |
|
|
| charcot-marie-tooth disease |
|
|
| tooth disease |
|
|
| x-linked charcot-marie-tooth disease |
|
|
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.
Additional Disease Information for PDK3
No data available for Genatlas for PDK3 Gene
Publications for PDK3 Gene
- 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 23
- 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 23
- 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 23
- 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 23
- 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 KM (The Biochemical journal 2002) 3 4 23
ExternalLinks
Products for PDK3 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PDK3
- Search Origene for MassSpec and Protein Over-expression Lysates for PDK3
- Origene Custom Protein Services for PDK3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDK3
- Browse OriGene Inhibitory RNA Products For PDK3
- OriGene qPCR primer pairs for PDK3
- OriGene qPCR primer pairs and template standards for PDK3
- OriGene CRISPR knockouts for PDK3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PDK3
- Sino Biological Human cDNA Clone for PDK3
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for PDK3
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PDK3
- Novus Biologicals proteins and lysates for PDK3
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for PDK3
- Abcam proteins for PDK3
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for PDK3
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for PDK3 (AFLGC-PDK3)
- ApexBio compounds for PDK3
- VectorBuilder Custom and pre-made DNA vectors for PDK3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PDK3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PDK3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PDK3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PDK3
- Addgene plasmids for PDK3
- antibodies-online: Show 34 available PDK3 Antibodies ranked by validation data
- Compare Top PDK3 Antibodies
- antibodies-online: Search results for available PDK3 related products ranked by validation data
- antibodies-online: Show 5 available PDK3 Proteins ranked by validation data
- Compare Top PDK3 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for PDK3
- Search Santa Cruz Biotechnology (SCBT) for PDK3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PDK3
- Horizon Cell Lines for PDK3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDK3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDK3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PDK3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDK3
- Boster Bio Antibodies for PDK3
- Browse Boster Bio ELISA Kits
Sources for PDK3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB