CHURC1-FNTB gene: Structure, function, and disease relevance | Biomedical SEO

CHURC1-FNTB is a readthrough gene that produces a transcript containing exons from both CHURC1 (Churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta). This readthrough event results in a chimeric mRNA that may encode a fusion protein combining the N-terminal Churchill domain of CHURC1 with the C-terminal farnesyltransferase beta subunit of FNTB. The gene is located on chromosome 14q23-q24. The readthrough transcript is predicted to be a candidate for nonsense-mediated decay (NMD), but if translated, the fusion protein could potentially alter protein prenylation and gene regulation. The biological significance is under investigation, with potential implications in cancer and developmental processes.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Protein farnesylation (RAS pathway)

• Gene regulation (CHURC1-related)

The CHURC1-FNTB readthrough gene potentially encodes a fusion protein that includes the Churchill domain from CHURC1 and the beta subunit of farnesyltransferase (FNTB). The Churchill domain is a zinc-binding domain involved in transcriptional regulation during development, while FNTB is the catalytic subunit of the farnesyltransferase enzyme that attaches farnesyl groups to proteins such as RAS. If translated, the fusion protein could have altered enzymatic activity or subcellular localization, potentially impacting cell signaling and gene expression. However, the readthrough transcript is predicted to be a target for nonsense-mediated decay, so the actual protein may not be produced in significant amounts. Further studies are needed to confirm the existence and function of the fusion protein.