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FLASH GENE
Symbol KLRC1 contributors: mct/npt - updated : 04-12-2009
HGNC name killer cell lectin-like receptor subfamily C, member 1
HGNC id 6374
Location 12p13.2      Physical location : 10.598.638 - 10.607.215
Synonym name
  • natural killer-P cell surface receptor
  • NK cell receptor A
  • NKG2-1/B activating NK receptor
  • NKG2-A/B type II integral membrane protein
  • CD159 antigen-like family member A
    • Synonym symbol(s) NKG2A, NKG2B, CD159A, MGC13374, MGC59791, NKG2
    DNA
    TYPE functioning gene
    STRUCTURE 7.29 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 splicing 1393 - 233 - Plougastel, Nguyen (2005)
    also called NKG2A
    6 splicing 1339 - 215 - Plougastel, Nguyen (2005)
    also called NKG2B
    8 - 1386 - 233 - Nguyen (2005)
    7 - 1332 - 215 - Nguyen (2005)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemplacenta   
    Urinarykidney    
    Visualeye    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunenatural killer Homo sapiens
    Lymphoid/ImmuneT cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an extracytoplasmic carbohydrate recognition domain homologous with the C type lectin family member, group V
  • two cytoplasmic tyrosine based inhibitory motifs (ITIM)
    • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • natural killer cell lectin-like receptor family
  • subfamily C
    • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    text type II integral membrane protein
    basic FUNCTION
  • triggering cellular activation of NK cells and target lysis (NKGR2@ cluster)
  • playing a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells
  • a key inhibitory ligand for HLA-E, is expressed on activated TH2 but not TH1 cells (Freishtat 2007)
  • may be also transiently displayed by KLRD1/KLRC2+ NK cells under the influence of IL12, providing a potential negative regulatory feedback mechanism (Sáez-Borderías 2009)
  • two distinct inhibitory receptor systems for MHC class I, one of which is KLRD1–KLRC1
  • KLRC1 and KLRD1 operates in tandem with the polymorphic killer cell Ig-like receptors (KIR) and Ly49 systems to inhibit NK cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimeric assembly of the KLRD1-KLRCs receptor family having implications for human leukocyte antigen-E recognition (Sullivan 2007)
  • KLRD1 forms disulfide-bonded heterodimers with the KLRC1 subunit to form an inhibitory receptor or with the KLRC2 or KLRC3 subunits to assemble a receptor complex with activating DAP12 signaling proteins
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand for KLRK1/KLRC1, KLRC2 is leukocyte antigen (HLA)-E, which is constitutively expressed on human cells (Imaizumi 2009)
  • expression of KLRD1 and its associated KLRC1, KLRC2, KLRC3 subunits is dispensable for NK cell development, education, and many NK cell functions
    • cell & other
    REGULATION
    Other calcineurin-dependent negative regulation of KLRD1/KLRC1 expression on naive CD8+ T cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in cytotoxic NK subset were found in later stages HIV infection (Zhang 2007)
    constitutional     --low  
    of KLRD1/KLRC1 inhibitory receptor on decreased gammadelta T cells in patients with systemic lupus erythematosus
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS