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
- [Pyruvate Dehydrogenase (Acetyl-Transferring)] Kinase Isozyme 3, Mitochondrial 3
- Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 3, Mitochondrial 3
- Pyruvate Dehydrogenase Kinase Isoform 3 4
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
- 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 X-Linked Charcot-Marie-Tooth Disease. Among its related pathways are Metabolism and Signaling by Retinoic Acid. 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 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
- Monarch Initiative
- Search for PDK3 at DataMed
- Search for PDK3 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDK3 Gene
Genomics for PDK3 Gene
GeneHancer (GH) Regulatory Elements for PDK3 Gene
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 | 659.8 | +0.2 | 164 | 2.3 | ATF1 MLX ARNT ZNF133 ARID4B SIN3A BRCA1 GLIS2 SP3 SP5 | PDK3 ENSG00000260822 SNRPEP9 | |
| GH0XJ024477 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 9.6 | +14.6 | 14557 | 4.9 | PKNOX1 ZNF133 MAX E2F1 ZNF316 POLR2A ZSCAN5C ATF7 FOS RUNX3 | PDK3 ENSG00000260822 ZFX SNRPEP9 | |
| GH0XJ024023 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE | 2 | -440.2 | -440194 | 4.1 | SMAD1 FOXA2 SIN3A ZNF2 YY1 POLR2B SP3 SP5 ZHX2 REST | SAT1 ZFX ACOT9 PDK3 KLHL15 GC0XP023953 | |
| GH0XJ024493 | Enhancer | 1 | Ensembl ENCODE | 0.3 | +29.4 | 29407 | 2.2 | FOXA2 ZNF133 ARID4B FEZF1 ZNF2 YY1 EGR1 ZNF366 ZSCAN5C FOS | ENSG00000260822 SNRPEP9 PDK3 | |
| GH0XJ024467 | Enhancer | 0.3 | Ensembl | 0.7 | +2.2 | 2180 | 0.4 | EGR2 | PDK3 SNRPEP9 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PDK3 gene promoter:
-
- AP-2gamma
- FOXL1
- Arnt
- AhR
- FOXO4
- Sox9
- CUTL1
- C/EBPbeta
- AREB6
- POU6F1 (c2)
Regulatory Element Products
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 Entrez Gene
- Xp22.11 by HGNC
- 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
Post-translational modifications for PDK3 Gene
Other Protein References for PDK3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PDK3
-
Abcam antibodies for PDK3
- Invitrogen Antibodies for PDK3
- GeneTex PDK3 Antibody for PDK3
-
Boster Bio Antibodies for PDK3
-
Santa Cruz Biotechnology (SCBT) 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
- Search GeneTex for Proteins for PDK3
-
Abcam proteins for PDK3
Assay Products
- antibodies-online: Search results for available PDK3 related products ranked by validation data
No data available for DME Specific Peptides 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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PDK3 Gene
- GenScript: Design optimal peptide antigens:
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:
- 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 Induction:
- Up-regulated in response to hypoxia. Up-regulated in response to fatty acids. Up-regulated by PPARD.
Enzyme Numbers (IUBMB) 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 | TAS,IDA | 11486000 |
| GO:0005515 | protein binding | IPI | 15861126 |
| GO:0005524 | ATP binding | IEA,IDA | 15861126 |
Phenotypes for PDK3 Gene
- GenomeRNAi human phenotypes for PDK3:
-
- Decreased substrate adherent cell growth
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased ionizing radiation sensitivity
- Decreased viability
- Decreased cell migration
- Increased senescence-associated beta-galactosidase protein expression after pRB stimulation
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- Increased transferrin (TF) endocytosis
Animal Model Products
-
Taconic Biosciences Mouse Models for PDK3
- Cyagen custom Knockout/knockin (KOKI) mouse models for PDK3
-
CRISPR Products
-
OriGene CRISPR knockouts for PDK3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDK3
- genomics-online: gRNA clones - Search results for 116 available PDK3 gene related products
- Overview of 116 available PDK3 gene related products
- Applied Biological Materials CRISPR for PDK3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDK3
- GenScript: Design CRISPR guide RNA sequences for PDK3
miRNA for PDK3 Gene
- miRTarBase miRNAs that target PDK3
-
- 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 sirna, shrna, 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
- genomics-online: shRNA clones - Search results for 116 available PDK3 gene related products
- Overview of 116 available PDK3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PDK3
- VectorBuilder custom plasmid, inducible vectors for PDK3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PDK3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PDK3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDK3
- Applied Biological Materials Clones for PDK3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PDK3
No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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 | 5 |
| peroxisome | 1 |
| cytosol | 1 |
- Mitochondria (3)
- Nucleoli (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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 |
.48
|
|
| 3 | Metabolism |
.37
|
|
| 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
Interacting Proteins for PDK3 Gene
GPS-Prot Interaction Network for PDK3
| 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, Full agonist, Antagonist, Potentiation, Pore Blocker | 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 |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 | |||
| Hydrogen phosphate |
|
14066-19-4 |
|
Drug Products
Transcripts for PDK3 Gene
mRNA/cDNA for PDK3 Gene
- (2) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (94) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000379162 1809 bps (uc004dbg.4)
- ENST00000441463 1921 bps (uc004dbh.4)
- ENST00000493226 396 bps (uc064yju.1)
Unigene Clusters for PDK3 Gene
- Pyruvate dehydrogenase kinase, isozyme 3:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PDK3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDK3
- genomics-online: gRNA clones - Search results for 116 available PDK3 gene related products
- Overview of 116 available PDK3 gene related products
- Applied Biological Materials CRISPR for PDK3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDK3
- GenScript: Design CRISPR guide RNA sequences for PDK3
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for 116 available PDK3 gene related products
- Overview of 116 available PDK3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PDK3
- VectorBuilder custom plasmid, inducible vectors for PDK3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PDK3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PDK3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDK3
- Applied Biological Materials Clones for PDK3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||
| SP3: |
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
NURSA nuclear receptor signaling pathways regulating expression of PDK3 Gene:
PDK3SOURCE 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(4.3)
- Skin(4)
- Nervous system(3.4)
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 and template standards for PDK3
-
OriGene qPCR primer pairs for PDK3
- genomics-online: primer clones - Search results for 116 available PDK3 gene related products
- Overview of 116 available PDK3 gene related products
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 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PDK3 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PDK3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PDK3 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Pdk3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pdk3 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PDK3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PDK3 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PDK3 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pdk3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pdk3b 34 |
|
OneToMany | |
| pdk3a 34 33 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Pdk 34 35 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010276 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | pdhk-2 34 33 |
|
OneToMany | |
| ZK370.5 35 |
|
|
|||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F27423g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AER270W 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PKP1 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PDK 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.3204 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os07g0637300 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pkp1 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU06760 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3938 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PDK3: view image
Paralogs for PDK3 Gene
Variants for PDK3 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs138321172 | likely-benign, uncertain-significance, benign, not specified, not provided, Charcot-Marie-Tooth disease, X-linked dominant, 6 | 24,503,382(+) | A/G | coding_sequence_variant, missense_variant | |
| rs141326782 | likely-benign, Charcot-Marie-Tooth disease, X-linked dominant, 6 | 24,539,144(+) | A/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs371137355 | benign, Charcot-Marie-Tooth disease, X-linked dominant, 6 | 24,465,506(+) | G/C/T | coding_sequence_variant, missense_variant | |
| rs372442017 | likely-benign, Charcot-Marie-Tooth disease, X-linked dominant, 6 | 24,503,342(+) | G/C | coding_sequence_variant, synonymous_variant | |
| rs397515323 | pathogenic, Charcot-Marie-Tooth disease, X-linked dominant, 6, Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905] | 24,503,479(+) | G/A | coding_sequence_variant, missense_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
(3) MalaCards diseases for PDK3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, x-linked dominant, 6 |
|
|
| x-linked charcot-marie-tooth disease |
|
|
| 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 22 58
- 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 58
- 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 58
- 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 58
- 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 22 58
Products for PDK3 Gene
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- GeneTex PDK3 Antibody for PDK3
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- genomics-online: cdna clones - Search results for 116 available PDK3 gene related products
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- Boster Bio Antibodies for PDK3
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Sources for PDK3 Gene
- (1) GeneCards
- (2) HGNC
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- (4) Swiss-Prot
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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