TAF15 Gene: Function, Mutations, and Role in ALS & FTD | NCBI, UniProt, ClinVar

TAF15 (TATA-Box Binding Protein Associated Factor 15) encodes a member of the FET protein family (FUS, EWSR1, TAF15). This RNA-binding protein is a component of the TFIID transcription complex and is involved in transcription initiation, RNA splicing, and RNA transport. TAF15 is predominantly nuclear but can shuttle to the cytoplasm. Mutations in TAF15 are associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The protein also plays a role in DNA damage response and stress granule formation.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• TFIID transcription initiation complex

• RNA splicing (spliceosome)

• FET protein family signaling

• Amyotrophic lateral sclerosis (ALS) pathway

TAF15 is a 592-amino acid RNA-binding protein belonging to the FET family. It contains an N-terminal QGSY-rich domain, a central RNA recognition motif (RRM), and a C-terminal RGG-rich region. The protein shuttles between nucleus and cytoplasm, participating in transcription, pre-mRNA splicing, and stress granule dynamics. Pathogenic mutations in the prion-like domain cause aggregation and are linked to ALS and FTD. TAF15 also forms oncogenic fusions in sarcomas and leukemias.