TAF11L13 Gene: Function, Expression, and Disease Associations

TAF11L13 is a protein-coding gene located on chromosome 5q35.3. It encodes a protein that shares sequence similarity with TAF11, a TATA-box binding protein associated factor involved in RNA polymerase I transcription. TAF11L13 is thought to play a role in ribosomal DNA (rDNA) transcription regulation, potentially influencing ribosome biogenesis and cellular growth. Its expression is enriched in testis and certain cancer cell lines, suggesting a possible role in development and oncogenesis. However, functional studies are limited, and the gene is often considered a candidate pseudogene due to its high similarity to TAF11 and lack of clear orthologs in model organisms.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• RNA polymerase I transcription (inferred from similarity to TAF11)

The TAF11L13 protein is predicted to be 211 amino acids long with a molecular weight of ~24 kDa. It contains a conserved TAF11-like domain, suggesting it may interact with TATA-box binding protein (TBP) and other TAFs to regulate RNA polymerase I transcription. However, its exact function remains uncharacterized. It may act as a decoy or regulatory subunit in the SL1 complex, potentially modulating rDNA transcription. Structural predictions indicate a globular protein with a histone-fold domain, typical of TAF family members.