• Gene id: 5165

Gene Summary

• Gene Symbol: PDK3   Gene   UCSC   Ensembl
• Aliases: CMTX6, GS1-358P8.4
• Gene name: pyruvate dehydrogenase kinase 3
• Alternate names: pyruvate dehydrogenase kinase, isozyme 3, [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial, pyruvate dehydrogenase kinase, isoenzyme 3, pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial,
• Gene location: Xp22.11 (6768956: 6768006)     Exons: 1     NC_000011.10
• Gene summary(Entrez): 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) cyc
• OMIM: 300906

Protein Summary

• Protein general information: Q15120  
  • Name: [Pyruvate dehydrogenase (acetyl transferring)] kinase isozyme 3, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 3)
  • Length: 406  
  • Mass: 46939
  • Tissue specificity: Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain. {ECO
• Sequence:

  MRLFRWLLKQPVPKQIERYSRFSPSPLSIKQFLDFGRDNACEKTSYMFLRKELPVRLANTMREVNLLPDNLLNRP
  SVGLVQSWYMQSFLELLEYENKSPEDPQVLDNFLQVLIKVRNRHNDVVPTMAQGVIEYKEKFGFDPFISTNIQYF
  LDRFYTNRISFRMLINQHTLLFGGDTNPVHPKHIGSIDPTCNVADVVKDAYETAKMLCEQYYLVAPELEVEEFNA
  KAPDKPIQVVYVPSHLFHMLFELFKNSMRATVELYEDRKEGYPAVKTLVTLGKEDLSIKISDLGGGVPLRKIDRL
  FNYMYSTAPRPSLEPTRAAPLAGFGYGLPISRLYARYFQGDLKLYSMEGVGTDAVIYLKALSSESFERLPVFNKS
  AWRHYKTTPEADDWSNPSSEPRDASKYKAKQ

• Structural information:
  • Protein Domains: (131..36-)
    (/note="Histidine-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00107"-)
  • Interpro: IPR036784  IPR018955  IPR039028  IPR003594  IPR036890   IPR005467  
  • Prosite: PS50109
  • PDB: 1Y8N 1Y8O 1Y8P 2PNR 2Q8I
  • PDBsum: 1Y8N 1Y8O 1Y8P 2PNR 2Q8I
  • DIP: 29498
  • STRING: ENSP00000387536
• Other Databases: GeneCards:  PDK3  Malacards:  PDK3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042593	glucose homeostasis	IBA	biological process
GO:1904183	negative regulation of pyruvate dehydrogenase activity	IBA	biological process
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0071398	cellular response to fatty acid	IMP	biological process
GO:0071333	cellular response to glucose stimulus	ISS	biological process
GO:0035357	peroxisome proliferator activated receptor signaling pathway	IMP	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	IMP	biological process
GO:0097411	hypoxia-inducible factor-1alpha signaling pathway	IMP	biological process
GO:0010906	regulation of glucose metabolic process	IMP	biological process
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006006	glucose metabolic process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)