• Gene id: 5166

Gene Summary

• Gene Symbol: PDK4   Gene   UCSC   Ensembl
• Gene name: pyruvate dehydrogenase kinase 4
• Alternate names: pyruvate dehydrogenase kinase, isozyme 4, [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial, [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 4, mitochondrial, pyruvate dehydrogenase kinase, isoenzyme 4, pyruvate dehydrogenase,,
• Gene location: 7q21.3 (95596515: 95583498)     Exons: 11     NC_000007.14
• Gene summary(Entrez): This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating
• OMIM: 602527

Protein Summary

• Protein general information: Q16654  
  • Name: [Pyruvate dehydrogenase (acetyl transferring)] kinase isozyme 4, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 4)
  • Length: 411  
  • Mass: 46469
  • Tissue specificity: Ubiquitous; highest levels of expression in heart and skeletal muscle. {ECO
• Sequence:

  MKAARFVLRSAGSLNGAGLVPREVEHFSRYSPSPLSMKQLLDFGSENACERTSFAFLRQELPVRLANILKEIDIL
  PTQLVNTSSVQLVKSWYIQSLMDLVEFHEKSPDDQKALSDFVDTLIKVRNRHHNVVPTMAQGIIEYKDACTVDPV
  TNQNLQYFLDRFYMNRISTRMLMNQHILIFSDSQTGNPSHIGSIDPNCDVVAVVQDAFECSRMLCDQYYLSSPEL
  KLTQVNGKFPDQPIHIVYVPSHLHHMLFELFKNAMRATVEHQENQPSLTPIEVIVVLGKEDLTIKISDRGGGVPL
  RIIDRLFSYTYSTAPTPVMDNSRNAPLAGFGYGLPISRLYAKYFQGDLNLYSLSGYGTDAIIYLKALSSESIEKL
  PVFNKSAFKHYQMSSEADDWCIPSREPKNLAKEVAM

• Structural information:
  • Protein Domains: (138..36-)
    (/note="Histidine-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00107"-)
  • Interpro: IPR036784  IPR018955  IPR039028  IPR003594  IPR036890   IPR005467  
  • Prosite: PS50109
  • PDB: 2E0A 2ZDX 2ZDY 2ZKJ 3D2R
  • PDBsum: 2E0A 2ZDX 2ZDY 2ZKJ 3D2R
  • STRING: ENSP00000005178
• Other Databases: GeneCards:  PDK4  Malacards:  PDK4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904183	negative regulation of pyruvate dehydrogenase activity	IBA	biological process
GO:0042593	glucose homeostasis	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0009267	cellular response to starvation	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0071398	cellular response to fatty acid	IMP	biological process
GO:0042594	response to starvation	ISS	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0008286	insulin receptor signaling pathway	IMP	biological process
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:0072593	reactive oxygen species metabolic process	IMP	biological process
GO:0046320	regulation of fatty acid oxidation	ISS	biological process
GO:0042304	regulation of fatty acid biosynthetic process	IMP	biological process
GO:0010906	regulation of glucose metabolic process	IMP	biological process
GO:0010565	regulation of cellular ketone metabolic process	ISS	biological process
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	IMP	biological process
GO:0006885	regulation of pH	ISS	biological process
GO:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	ISS	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0006006	glucose metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004672	protein kinase activity	TAS	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:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042594	response to starvation	IEA	biological process
GO:0006885	regulation of pH	IEA	biological process
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	IEA	biological process
GO:0010565	regulation of cellular ketone metabolic process	IEA	biological process
GO:0010906	regulation of glucose metabolic process	IEA	biological process
GO:0042304	regulation of fatty acid biosynthetic process	IEA	biological process
GO:0045124	regulation of bone resorption	IEA	biological process
GO:0046320	regulation of fatty acid oxidation	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R