Basic Information

Symbol
PDK1
RNA class
mRNA
Alias
Pyruvate Dehydrogenase Kinase 1 [Pyruvate Dehydrogenase (Acetyl-Transferring)] Kinase Isozyme 1, Mitochondrial Pyruvate Dehydrogenase Kinase, Isoenzyme 1 PDH Kinase 1 EC 2.7.11.2 Pyruvate Dehydrogenase (Acetyl-Transferring) Kinase Isozyme 1, Mitochondrial Mitochondrial Pyruvate Dehydrogenase, Lipoamide, Kinase Isoenzyme 1 Pyruvate Dehydrogenase Kinase, Isozyme 1 Pyruvate Dehydrogenase Kinase Isoform 1 EC 2.7.11 PDHK1
Location (GRCh38)
2:172555373-172608669
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_002610.5
Sequence length
14072.0 nt
GC content
0.3946

Transcripts

ID Sequence Length GC content
NM_001278549.2 NCBI
ACUCGGCAGAGGCGCGGGGAAACCUGGCGUACUGGCUGUGGCUUCUCUA… 14132 nt 0.3948
NM_002610.5 NCBI
ACUCGGCAGAGGCGCGGGGAAACCUGGCGUACUGGCUGUGGCUUCUCUA… 14072 nt 0.3946
Summary

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 activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]

Forensic Context

A study in human forensic autopsy cases demonstrated that RNA sequencing captured a molecular signature of fatal insulin overdose, with transcripts in the insulin receptor substrate–PI3K–PDK1/2 pathway being markedly upregulated [Nakao et al. DOI:10.1016/j.legalmed.2025.102772].