SQSTM1
Overview
SQSTM1 (sequestosome-1, also known as p62) is a multifunctional scaffold protein involved in autophagy, NF-kB signaling, and mTORC1 activation. In clear cell renal cell carcinoma (ccRCC), SQSTM1 is located in the recurrently amplified 5q35.3 chromosomal region, with copy number gain correlated with increased mRNA expression and PI3K pathway activation status.
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: Co-amplified with RACK1 in the 5q35.3 amplicon; both genes are linked to PI3K activation. PMID:23792563
Co-occurrence and mutual exclusivity
- Co-amplified with RACK1 in the 5q35.3 amplicon in ccRCC. PMID:23792563
Therapeutic relevance
- PI3K/AKT/mTOR pathway nominated as a therapeutic target in ccRCC; SQSTM1 amplification contributes to pathway activation. PMID:23792563
Open questions
- Whether SQSTM1 amplification is a driver or passenger event in ccRCC 5q35.3 amplicons has not been formally tested. PMID:23792563
Sources
This page was processed by crosslinker on 2026-05-09.