TLR1 Gene - Toll Like Receptor 1: Function, Mutations & Disease Associations

TLR1 (Toll Like Receptor 1) is a protein-coding gene that encodes a member of the Toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immunity. TLR1 forms heterodimers with TLR2 to recognize triacylated lipopeptides from bacteria and mycobacteria. The receptor is expressed on the cell surface and triggers signaling pathways leading to NF-κB activation and cytokine production.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Toll-like receptor signaling pathway (KEGG: hsa04620)

• MyD88-dependent cascade (Reactome: R-HSA-166058)

• NF-κB activation (Reactome: R-HSA-975110)

TLR1 is a 786-amino acid type I transmembrane protein with an extracellular leucine-rich repeat (LRR) domain and a cytoplasmic Toll/interleukin-1 receptor (TIR) domain. It heterodimerizes with TLR2 to recognize bacterial triacylated lipopeptides. Upon ligand binding, the TIR domain recruits MyD88, initiating a signaling cascade that culminates in NF-κB activation and pro-inflammatory cytokine production. TLR1 is critical for host defense against Gram-positive bacteria and mycobacteria.