RACK1
Overview
RACK1 (also known as GNB2L1) encodes the Receptor for Activated C-Kinase 1, a scaffolding protein that anchors activated protein kinase C to cellular membranes and participates in PI3K/AKT signaling. In clear cell renal cell carcinoma (ccRCC), RACK1 resides in the 5q35.3 amplicon, and its copy number gain is correlated with elevated mRNA expression and PI3K pathway activation.
Alterations observed in the corpus
- Copy number gain at the 5q35.3 amplicon; copy number correlated with mRNA expression and PI3K pathway alteration status in ccRCC. PMID:23792563
Cancer types (linked)
- CCRCC: RACK1 is located within the recurrently amplified 5q35.3 region; co-amplification with SQSTM1 links both genes to PI3K activation in this tumor type. PMID:23792563
Co-occurrence and mutual exclusivity
- Co-amplified with SQSTM1 in the 5q35.3 amplicon; both genes are linked to PI3K pathway activation in ccRCC. PMID:23792563
Therapeutic relevance
- PI3K/AKT/mTOR pathway is nominated as a therapeutic target in ccRCC; RACK1 amplification contributes to pathway activation, supporting use of mTOR inhibitors such as everolimus and temsirolimus. PMID:23792563
Open questions
- Whether RACK1 copy number gain independently drives PI3K pathway activity or is a passenger co-amplification with other 5q35.3 genes remains to be determined. PMID:23792563
Sources
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