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FLASH GENE
Symbol KIR3DL1 contributors: mct - updated : 02-09-2011
HGNC name killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
HGNC id 6338
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three Ig domains and is specific for MHC class I (MHC-I) molecules belonging to the HLA-Bw4 serogroup
  • a long cytoplasmic tail, with two tyrosine based inhibitory motifs (ITIM)
  • a KIR3DL interaction site seem to be largely conserved across the KIR3D family, with specificity differences mapping to a hotspot within the interaction interface
    • HOMOLOGY
    Homologene
    FAMILY killer immunoglobulin-like receptors family, KIR3D family
    CATEGORY immunity/defense , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may play an important role in regulation of the immune response
  • prominent role for KIR3DL1/HLA-Bw4 interactions in licensing NK cells for CD16-mediated effector function
  • recognizes HLA class I allotypes that contain the Bw4 serological epitope spanning residues 77–83 on the alpha1-helix
  • inhibitory killer cell Ig-like receptor (KIR) implicated in resistance to viral diseases such as AIDS
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component natural killer cell receptor cluster FLNKR@
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MHC-I could bridge KIR3DL1 molecules together in a manner that facilitates signaling
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    was able to enhance the regulatory function of Tregs and their ability to inhibit insulitis and T1Diabetes
    constitutional     --over  
    in intestinal mucosa in active celiac disease
    Susceptibility to ankylosing spondylitis
    Variant & Polymorphism other presence of the functional KIR3DL1 receptor has a protective effect on ankylosing spondylitis
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabetetype 1 
    important target for modulation of Treg function for treatment of autoimmune diseases like T1Diabetes
    ANIMAL & CELL MODELS