BUB1B-PAK6 Gene: Structure, Function, and Disease Associations | Biomedical SEO

BUB1B-PAK6 is a naturally occurring readthrough gene located on chromosome 15, formed by the transcriptional fusion of the BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B) and PAK6 (p21 (RAC1) activated kinase 6) genes. This readthrough transcript is classified as an NMD (nonsense-mediated decay) candidate, suggesting it may be targeted for degradation and not produce a stable protein. However, its existence has been annotated in major genomic databases, and it may play regulatory roles in gene expression or contribute to cellular diversity under certain conditions. The fusion combines sequences from BUB1B, involved in mitotic spindle checkpoint, and PAK6, a kinase implicated in androgen receptor signaling and cell motility, potentially linking cell cycle control with signaling pathways.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Cell cycle

• mitotic

• Signaling by Rho GTPases

• Androgen receptor signaling

• p53 pathway

The BUB1B-PAK6 readthrough gene is predicted to produce a transcript that is a candidate for nonsense-mediated decay, meaning it likely does not yield a functional protein. Instead, the readthrough may serve as a regulatory RNA, potentially influencing the expression of the parental genes BUB1B and PAK6. If translated under certain conditions, the resulting fusion protein would contain an N-terminal portion from BUB1B (including the kinase domain) and a C-terminal portion from PAK6 (also a kinase), potentially creating a chimeric kinase with altered regulation. However, due to NMD, such translation is unlikely under normal conditions. The readthrough may also produce antisense transcripts or affect chromatin structure, adding regulatory complexity.