Overview

Location [1]
16p13.3
Protein [2]
3-phosphoinositide-dependent protein kinase 1
Synonyms [1]
PDPK2, PDK1, PDPK2P, PRO0461

3-phosphoinositide dependent protein kinase 1 (PDPK1) is a gene that encodes a protein that functions as a serine/threonine kinase. The protein is involved in signal transduction from insulin and regulates proliferation, survival, and growth of pancreatic cells. Missense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as cancers of the biliary tract, intestinal cancer, and stomach cancer.

PDPK1 is altered in 0.23% of all cancers with lung adenocarcinoma, endometrial endometrioid adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, and cancer of unknown primary having the greatest prevalence of alterations [3].

PDPK1 GENIE Cases - Top Diseases

The most common alterations in PDPK1 are PDPK1 Mutation (0.21%), PDPK1 G530R (0.01%), PDPK1 P363L (0.91%), PDPK1 D418N (0.01%), and PDPK1 R407M (0.01%) [3].

PDPK1 GENIE Cases - Top Alterations

References

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.