BTRC (gene)

BTRC, also known as Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase, is a human gene. It encodes a protein which functions as a substrate recognition component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex. This complex plays a crucial role in the ubiquitination and subsequent degradation of various proteins involved in cell cycle regulation, signal transduction, and other cellular processes.

Specifically, the BTRC protein is an F-box protein, meaning it contains an F-box domain which mediates interaction with Skp1. This interaction is essential for the assembly of the SCF complex. The BTRC protein also contains WD40 repeats, which facilitate protein-protein interactions and are responsible for substrate recognition. These WD40 repeats allow BTRC to bind to specific phosphorylated motifs (degrons) on target proteins, marking them for ubiquitination by the SCF complex.

The SCF(BTRC) complex is involved in the regulation of a number of key cellular proteins, including beta-catenin (CTNNB1), cyclin E, and IκBα. Ubiquitination of these proteins by the SCF(BTRC) complex leads to their proteasomal degradation, thereby controlling their activity and stability within the cell.

Dysregulation of BTRC activity has been implicated in various human diseases, including cancer. For example, mutations or altered expression of BTRC can disrupt the normal degradation of beta-catenin, leading to its accumulation and activation of Wnt signaling, which is a known driver of tumorigenesis in colorectal cancer and other cancers.

The BTRC gene is located on chromosome 10q22.1. Alternative splicing of the BTRC gene can result in multiple transcript variants encoding different isoforms of the protein.