U.S. flag

An official website of the United States government

GTR Home > Genes

KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1

Gene ID: 3811, updated on 11-Apr-2024
Gene type: protein coding
Also known as: KIR; NKB1; NKAT3; NKB1B; NKAT-3; CD158E1; KIR2DL5B; KIR3DL1/S1

Summary

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Susceptibility to HIV infection
MedGen: C1836230OMIM: 609423GeneReviews: Not available
See labs

Genomic context

Location:
19q13.42
Sequence:
Chromosome: 19; NC_000019.10 (54816468..54830778)
Total number of exons:
9

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.