KIR3DL1 Gene - Killer Cell Immunoglobulin-Like Receptor | NCBI, UniProt, OMIM

KIR3DL1 is a member of the killer cell immunoglobulin-like receptor (KIR) gene family, located in the leukocyte receptor complex on chromosome 19. It encodes a transmembrane glycoprotein expressed on natural killer (NK) cells and a subset of T cells. The receptor recognizes HLA-Bw4 allotypes and delivers inhibitory signals via its long cytoplasmic tail containing immunoreceptor tyrosine-based inhibitory motifs (ITIMs). KIR3DL1 plays a critical role in regulating NK cell cytotoxicity and cytokine secretion, influencing immune responses to viral infections, autoimmune conditions, and cancer.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Natural killer cell mediated cytotoxicity (KEGG: hsa04650)

• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome: R-HSA-198933)

KIR3DL1 is a type I transmembrane glycoprotein of 444 amino acids, belonging to the immunoglobulin superfamily. The extracellular region contains three immunoglobulin-like domains (D0, D1, D2) that mediate recognition of HLA-Bw4 ligands. The long cytoplasmic tail includes two ITIMs that recruit phosphatases SHP-1 and SHP-2, delivering inhibitory signals to dampen NK cell activation. Alternative splicing generates multiple isoforms with varying ligand-binding and signaling properties.