LongevityMap Gene

Gene details

HGNC symbol
KIR3DL1 
Aliases
KIR; NKB1; NKAT3; NKB1B; NKAT-3; CD158E1; KIR3DL1/S1 
Common name
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 
Description
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]
Cytogenetic Location
19q13.42
UCSC Genome Browser
View 19q13.42 on the UCSC genome browser
OMIM
604946
Ensembl
ENSG00000167633
UniProt/Swiss-Prot
KI3L1_HUMAN
Entrez Gene
3811
UniGene
645228
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

Studies (2)

Significant/Non-significant: 0/2

Study 1

Longevity Association
Non-significant
Population
Irish
Study Design
A 22 bp deletion was examined in 180 aged individuals (90-97 years) and 180 controls (19-45 years)
Conclusions
There was no observed association between this common polymorphic variation and the aged Irish population
Indentifier
KIR3DL1
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Irish
    Study Design
    24 genotypes were examined in 93 aged individuals (80-97 years) and 100 controls (19-45 years)
    Conclusions
    A comparison of the frequency of individual KIR gene repertoires within the aged subset and control group failed to reveal a statistically significant level of genotypic variation
    Indentifier
    KIR3DL1
    Reference