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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
Location 19q13.4      Physical location : 55.327.892 - 55.342.232
Synonym name
  • natural killer cell immunoglobulin-like inhibitory receptor for HLA-B antigens, 3DL1
  • KIR antigen 3DL1
  • killer cell immunoglobulin-like receptor 3DL1
  • associated transcript3
  • Synonym symbol(s) NKAT3, NKB1, KIR, AMB11, NKB1B, CD158E1, MGC119726, MGC119728
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 14.34 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure putative E2F binding site in the KIR3DL1 promoter (mutation in E2F binding site probably exerts its effect on promoter activity through directly repressing the binding of E2F protein and (or) indirectly repressing their binding by the altered methylation pattern)
    MAPPING cloned Y linked   status confirmed
    Physical map
    LENG8 19q13.42 leukocyte receptor cluster (LRC) member 8 LENG9 19q13.4 leukocyte receptor cluster (LRC) member 9 CDC42EP5 19q13.42 CDC42 effector protein (Rho GTPase binding) 5 LAIR2 19q13.4 leukocyte-associated Ig-like receptor 2 FLJ00060 19q13.42 hypothetical gene FLJ00060 LILRB1 19q13.4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 LILRA2 19q13.4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 LILRA1 19q13.4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 LILRB4 19q13.4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 ILT9 19q13.4 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member6, pseudogene ILT10 19q13.4 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 5 KIR3DL7 19q13.42 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 5 KIR2DL3 19q13.4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 LOC390973 19 similar to killer-cell Ig-like receptor KIR3DL7 KIR2DL1 19q13.4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 LOC390974 19 similar to 1060P11.3 (killer inhibitory receptor 2-2-2 (KIR222) (KIRX)) LOC388562 19 similar to 1060P11.4.2 (killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (isoform 2) (KIR103-AS)) KIR3DL1 19q13.4 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 KIR2DS4 19q13.4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 FCAR 19q13.4 Fc fragment of IgA, receptor for NCR1 19q13.42 natural cytotoxicity triggering receptor 1 NALP7 19q13.42 NACHT, leucine rich repeat and PYD containing 7 NALP2 19q13.42 NACHT, leucine rich repeat and PYD containing 7 GP6 19q13.4 glycoprotein VI (platelet) RDH13 19q13.42 retinol dehydrogenase 13 (all-trans and 9-cis) EPS8L1 19q13.42 EPS8-like 1 PPP1R12C 19q13.42 protein phosphatase 1, regulatory (inhibitor) subunit 12C TNNT1 19q13.4 troponin T1, skeletal, slow
    RNA
    TRANSCRIPTS type messenger
    text with several alternatively spliced forms (Dohring)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1986 - 444 - 1996 8662091
    NKAT3
    - - 1814 - 427 - 1996 8662091
    - - 1453 - ? - 1996 8662091
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticplasma   
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immuneactivated B lymphocyte
    cell lineage T cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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 7783 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