• Gene id: 5163

Gene Summary

• Gene Symbol: PDK1   Gene   UCSC   Ensembl
• Gene name: pyruvate dehydrogenase kinase 1
• Alternate names: [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial, pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 1, mitochondrial, PDH kinase 1, mitochondrial pyruvate dehydrogenase, lipoamide, kinase isoenzyme 1, pyruvate dehydroge,
• Gene location: 2q31.1 (172555372: 172672697)     Exons: 24     NC_000002.12
• Gene summary(Entrez): Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic acti
• OMIM: 602524

Protein Summary

• Protein general information: Q15118  
  • Name: [Pyruvate dehydrogenase (acetyl transferring)] kinase isozyme 1, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 1) (PDH kinase 1)
  • Length: 436  
  • Mass: 49244
  • Tissue specificity: Expressed predominantly in the heart. Detected at lower levels in liver, skeletal muscle and pancreas. {ECO
• Sequence:

  MRLARLLRGAALAGPGPGLRAAGFSRSFSSDSGSSPASERGVPGQVDFYARFSPSPLSMKQFLDFGSVNACEKTS
  FMFLRQELPVRLANIMKEISLLPDNLLRTPSVQLVQSWYIQSLQELLDFKDKSAEDAKAIYDFTDTVIRIRNRHN
  DVIPTMAQGVIEYKESFGVDPVTSQNVQYFLDRFYMSRISIRMLLNQHSLLFGGKGKGSPSHRKHIGSINPNCNV
  LEVIKDGYENARRLCDLYYINSPELELEELNAKSPGQPIQVVYVPSHLYHMVFELFKNAMRATMEHHANRGVYPP
  IQVHVTLGNEDLTVKMSDRGGGVPLRKIDRLFNYMYSTAPRPRVETSRAVPLAGFGYGLPISRLYAQYFQGDLKL
  YSLEGYGTDAVIYIKALSTDSIERLPVYNKAAWKHYNTNHEADDWCVPSREPKDMTTFRSA

• Structural information:
  • Protein Domains: (163..39-)
    (/note="Histidine-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00107"-)
  • Interpro: IPR036784  IPR018955  IPR039028  IPR003594  IPR036890   IPR005467  
  • Prosite: PS50109
  • PDB: 2Q8F 2Q8G 2Q8H
  • PDBsum: 2Q8F 2Q8G 2Q8H
  • DIP: 29497
  • STRING: ENSP00000376352
• Other Databases: GeneCards:  PDK1  Malacards:  PDK1

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:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	IDA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	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:0008283	cell population proliferation	IMP	biological process
GO:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	IMP	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004672	protein kinase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006006	glucose metabolic process	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005967	mitochondrial pyruvate dehydrogenase complex	IEA	cellular component
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005730	nucleolus	IDA	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
GO:0006468	protein phosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance
hsa04066	HIF-1 signaling pathway
hsa05230	Central carbon metabolism in cancer

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray