Location [1]
Protein [2]
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial
Synonyms [1]

Pyruvate dehydrogenase kinase, isozyme 1 (PDK1) is a gene that encodes a protein that functions in the catalysis of the oxidative decarboxylation of pyruvate. The enzyme also plays an important role in the regulation of homeostasis of carbohydrate fuels in animals. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions are observed in cancers such as cervical cancer, endometrial cancer, and intestinal cancer.

PDK1 is altered in 0.98% of all cancers with colon adenocarcinoma, conventional glioblastoma multiforme, endometrial endometrioid adenocarcinoma, adenocarcinoma of unknown primary, and lung adenocarcinoma having the greatest prevalence of alterations [3].

PDK1 GENIE Cases - Top Diseases

The most common alterations in PDK1 are PDK1 S35R (1.51%), PDK1 R148* (0.08%), PDK1 Amplification (0.12%), PDK1 D395N (0.19%), and PDK1 E93* (0.07%) [3].

PDK1 GENIE Cases - Top Alterations


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.