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FLASH GENE
Symbol KIR3DS1 contributors: mct - updated : 23-03-2013
HGNC name killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
HGNC id 6340
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three Ig C2 type extracellular domains
  • a short cytoplasmic tail, without the tyrosine based inhibitory motifs (ITIM), characteristic of activatory receptors
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to C.elegans Y52B11.A9
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • belongs to the KIR haplotype group B
    • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type 1 membrane protein
    basic FUNCTION
  • may play an important role in regulation of the immune response
  • expressed as a protein at the cell surface of NK cells
  • activating receptor featuring the characteristic short cytoplasmic tail and a positively charged residue within the transmembrane domain, which allows recruitment of the ITAM-bearing adaptor molecule DAP12
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component natural killer cell receptor cluster FLNKR@
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with HLA-Bw4 molecules bearing an Ile at residue 80
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to rapid or delayed progresion of HIV1
  • to ankylosing spondylitis (AS)
    • Variant & Polymorphism other
  • interaction between KIR3DS1 and HLA-B (BW4-80Ileu) decreases progression of HIV1
  • increased frequency of the KIR3DS1*013 allele in patients with AS is clearly independent of the presence of the HLA-Bw4I80 epitope
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS