Aliases for KIR3DS1 Gene
Previous GeneCards Identifiers for KIR3DS1 Gene
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
GeneCards Summary for KIR3DS1 Gene
KIR3DS1 (Killer Cell Immunoglobulin Like Receptor, Three Ig Domains And Short Cytoplasmic Tail 1) is a Protein Coding gene. Diseases associated with KIR3DS1 include Birdshot Chorioretinopathy. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include MHC class I receptor activity.
UniProtKB/Swiss-Prot for KIR3DS1 Gene
Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.