PDK3 - pyruvate dehydrogenase kinase 3 Gene

Also Known as CMTX6; GS1-358P8.4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5165

About PDK3

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:24,465,286-24,550,466 (from NCBI)

This gene has 6 transcripts (splice variants), 227 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 5.9), testis (RPKM 4.2) and 25 other tissues.

Summary

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]

PDK3 Products (2)

mRNA	Protein	Name
NM_001142386.3	NP_001135858.1	pyruvate dehydrogenase kinase, isozyme 3 isoform 1 precursor
NM_005391.5	NP_005382.1	pyruvate dehydrogenase kinase, isozyme 3 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	15861126	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15861126	GOA
enables protein kinase activity	IDA IDA: Inferred from direct assay	15861126	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	11486000	GOA
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity	IDA IDA: Inferred from direct assay	11486000	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to fatty acid	IMP IMP: Inferred from mutant phenotype	20715114	GOA
involved in hypoxia-inducible factor-1alpha signaling pathway	IMP IMP: Inferred from mutant phenotype	18718909	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	11486000	GOA
involved in peroxisome proliferator activated receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	17669420	GOA
involved in regulation of acetyl-CoA biosynthetic process from pyruvate	IMP IMP: Inferred from mutant phenotype	22865452	GOA
involved in regulation of glucose metabolic process	IMP IMP: Inferred from mutant phenotype	22865452	GOA
involved in regulation of reactive oxygen species metabolic process	IMP IMP: Inferred from mutant phenotype	22865452	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDK3 Protein Structure

BCDHK_Adom3

HATPase_c

0
100
200
300
406 a.a.

Protein Preferred Names	Protein Names
pyruvate dehydrogenase kinase, isozyme 3	[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial

PDK3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PDK3	Q15120	DLAT	Homo sapiens	P10515	Anti Tag CoIP	28514442
Intra	PDK3	Q15120	DLAT	Homo sapiens	P10515	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	CMTX6 Charcot-Marie-Tooth Disease X-Linked Dominant 6 Cmt6x X-Linked Charcot-Marie-Tooth Disease Type 6 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6 Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6 Charcot-Marie-Tooth Neuropathy X-Linked 6 Charcot-Marie-Tooth Disease, X-Linked, Type 6
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12492	VER-246608	Inhibitor	99.10%	Unkown
HY-121744	PS10	Inhibitor	98.51%	Unkown
HY-19564	JX06		99.78%	Unkown
HY-N6769	Radicicol	Inhibitor	99.96%	Unkown
HY-184943	Pan-PDK degrader-1		/	Unkown
HY-RS10277	PDK3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17890	Pdk3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24359	Pdk3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PDK3	VGNC	VGNC:32705
Mus musculus	PDK3	MGD	MGI:2384308
Macaca mulatta	PDK3	VGNC	VGNC:75934
Canis familiaris	PDK3	VGNC	VGNC:44382
Felis catus	PDK3	VGNC	VGNC:68776
Rattus norvegicus	PDK3	RGD	RGD:1593276
Others	PDK3	NCBI