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FLASH GENE
Symbol TLR1 contributors: mct/npt - updated : 09-02-2016
HGNC name toll-like receptor 1
HGNC id 11847
Corresponding disease
LPRS5 leprosy, susceptibility locus 5
Location 4p14      Physical location : 38.797.877 - 38.806.412
Synonym name
  • Drosophila transmembrane receptor Toll homolog 1
  • Toll/interleukin-1 receptor-like protein
  • CD281 antigen
  • Synonym symbol(s) TIL, KIAA0012, CD281, MGC104956, MGC126311, MGC126312, rsc786, DKFZp547I0610, DKFZp564I0682
    DNA
    TYPE functioning gene
    STRUCTURE 8.54 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text with at least two alternatively spliced isoforms with restricted expression (Rock)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2867 - 786 - 2002 11932926
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Epithelialbarrier liningepidermis   Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Blood/Hematopoieticmonocyte
    Blood/HematopoieticNK cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an extracellular part composed of 18 leucine-rich repeats (LRR) and a cysteine rich region
  • a transmembrane segment
  • a cytoplasmic domain
  • the TolN homology domain (TH), common to the Toll and IL1 receptor genes (also called TIR domain, Toll/Interleukin-1 receptor (TIR) playing an important role in innate host defense signaling
  • secondary structure a parallel beta/alpha fold with an acidic active site
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to Drosophila transmembrane receptor Toll,1
    Homologene
    FAMILY
  • Toll-like receptor family
  • CATEGORY immunity/defense , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • TLR1, TLR2, TLR6, and TLR10 are displayed on the plasma membrane where they are best available to contact bacterial and fungal cell wall constituents
  • basic FUNCTION
  • pathogen recognition and activation of innate immunity
  • play a major role in initiating innate immune responses against microbes (Barreiro 2009)
  • distinct roles for CNPY3 and CNPY4 in the regulation of TLR1 surface expression
  • TLR1, TLR2, TLR6, and TLR10, mediates immune responses to a variety of microbial cell wall components including lipoproteins and glycolipids
  • TLR2 has dual immune functions in the gut and TLR1 is a critical innate receptor for protective intestinal T(H)17 immunity
  • TLR1, when dimerized with TLR2, is a cell surface receptor that, upon recognition of bacterial lipoproteins, activates the innate immune system
  • lipopeptides elicit TLR1/2 and TLR2/6 signaling in the endolysosomes, but not on the cell surface
  • TLR1, TLR2 and TLR6 were expressed on the surface of B cells, monocytes and dendritic cells in a manner dependent on TLR-specific chaperone CNPY
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS immunity/defense
    text apoptosis of infected cells
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • heterodimerizing with TLR2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activating NF-KappaBs signaling pathway
  • ER-resident TLR chaperones, CNPY3, CNPY4 act as positive and negative regulators of TLR1 surface trafficking, respectively
  • CNPY4 positively regulates TLR4 surface expression but plays a negatively regulatory role in the surface expression of TLR1
  • CSF3 downregulates TLR1, TLR2 and TLR4 in a time- and dose-dependent fashion in human monocytes
  • critical role of SPI1 in the regulation of TLR1, 2, 4 and of CD14
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LPRS5
    Susceptibility
  • to Graves disease (GD)
  • to alopecia areata (AA)
  • Variant & Polymorphism SNP , other
  • genetic variation rs5743565 in TLR1 might be associated with the decreased susceptibility of GD
  • rs4833095 of TLR1 may be associated with the susceptibility for AA in the Korean population )
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS