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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
- NCBI Entrez Gene: 5165
- Ensembl: ENSG00000067992
- OMIM®: 300906
- UniProtKB/Swiss-Prot: 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 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.
Additional gene information 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
- 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
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:
Antibodies for research
- 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
-
Custom Antibody ServicesProSci Antibodies for PDK3
-
Santa Cruz Biotechnology (SCBT) Antibodies for PDK3
- Sino Biological Antibodies for PDK3
Protein products for research
-
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
Assay products for research
- antibodies-online: Search results for available PDK3 related products ranked by validation data
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- 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=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
| 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 ionizing radiation sensitivity
- Decreased substrate adherent cell growth
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased viability
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Increased senescence-associated beta-galactosidase protein expression after pRB stimulation
Animal Models for research
-
Taconic Biosciences Mouse Models for PDK3
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PDK3 - Starting at $85 >
- * PDK3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
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 for research
Inhibitory RNAs for research
- 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 for research
- Applied Biological Materials (abm): Clones for PDK3 - Starting at $45 >
- * PDK3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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 Lines for research
-
Horizon Cell Lines 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.
| 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: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 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
| 3 | Nanog in Mammalian ESC Pluripotency |
eNOS Signaling
.48
|
|
| 4 | Metabolism |
.40
|
|
| 5 | Signaling by GPCR | ||
Pathways by source for PDK3 Gene
7 Reactome pathways for PDK3 Gene
1 KEGG pathway 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: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 |
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 | |
| Phosphate | Experimental | Pharma | 0 | |||
| ATP | Investigational | Nutra | 0 | |||
| CPI-613 | Investigational | Pharma | PDH/α-KGDH inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
58-64-0 |
(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 1741 nts (view in UCSC)
- ENST00000493226 396 nts (view in UCSC)
- ENST00000568479 12720 nts (view in UCSC)
- ENST00000648777 4720 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PDK3 - Starting at $85 >
- * PDK3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
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 for research
Inhibitory RNAs for research
- 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 for research
- Applied Biological Materials (abm): Clones for PDK3 - Starting at $45 >
- * PDK3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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(3.7)
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
Primer products for research
-
OriGene qPCR primer pairs for PDK3
-
OriGene qPCR primer pairs and template standards for PDK3
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PDK3 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PDK3 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PDK3 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pdk3 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pdk3 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PDK3 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PDK3 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PDK3 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pdk3 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pdk3b 30 |
|
OneToMany | |
| pdk3a 29 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pdk 29 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010276 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | pdhk-2 29 30 |
|
OneToMany | |
| ZK370.5 31 |
|
|
|||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F27423g 29 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER270W 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PKP1 30 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PDK 29 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.3204 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os07g0637300 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pkp1 29 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU06760 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3938 30 |
|
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
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDK3 Gene
Disorders for PDK3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, x-linked dominant, 6 |
|
|
| charcot-marie-tooth disease |
|
|
| x-linked charcot-marie-tooth disease |
|
|
| 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 variants affecting the gene represented in this entry.
Additional Disease Information for PDK3
- Atlas
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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
- 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
- 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
- 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
- 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
ExternalLinks
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