Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NLRP6 contributors: mct/pgu - updated : 18-08-2012
HGNC name NLR family, pyrin domain containing 6
HGNC id 22944
Location 11p15.5      Physical location : 278.569 - 285.303
Synonym name
  • PYRIN-containing APAF1-like protein 5
  • NACHT, leucine rich repeat and PYD containing 6
  • PYRIN-containing APAF1-like protein 5
  • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6
  • caterpiller (CARD, Transcription Enhancer, R (purine)-binding, Pyrin, Lots of Leucine Repeats)11.4
  • Synonym symbol(s) PYPAF5, CLR11.4, NALP6, PAN3, AVR
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text component of a cluster of PYPAF genes
    STRUCTURE 6.82 kb     8 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2763 98.8 892 - 2002 12387869
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus    
    Reproductivemale systemtestis   
    Respiratoryrespiratory tracttrachea   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil Homo sapiens
    Lymphoid/ImmuneT cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal PYN (Pyrin-PAAD-Dapin) domain
  • a centrally located nucleotide-binding domain (NBS-NATCH subfamily)
  • a stretch of C-terminally-located leucine rich repeats (five leucine rich repeats region)
  • HOMOLOGY
    Homologene
    FAMILY nucleotide binding site (NB)/LRR family of proteins, caterpiller family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    intracellular,nuclear envelope
    basic FUNCTION
  • may mediate activation of CASP1 via PYCARD and promote activation of NF-KB
  • functioning in immune cells to coordinate the transduction of pro-inflammatory signals to the activation of NF-kappaB and pro-caspase-1
  • implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cells response to microbial infection
  • play important roles in both mammalian innate immune system and reproductive system (Tian 2009)
  • implicated in inflammasome signaling to activate caspase-1, which is essential for the production of mature ILB and IL18
  • activity of NLRP6 in hematopoietic cells is critical for protection against inflammation-related colon tumorigenesis
  • suppresses inflammation and carcinogenesis by regulating tissue repair
  • involved in maintenance of the integrity of the epithelial barrier
  • intracellular receptors, such as NLRP1, NLRP3, NLRP6 and NLRC4, which mediate the assembly of inflammasome complexes leading to the activation of procaspase-1
  • is a negative regulator of inflammatory signaling, having a role in impeding clearance of both Gram-positive and ľnegative bacterial pathogens
  • plays a critical role in regulating host and immune responses in cells of the myeloid lineage
  • specifically suppresses TLR-induced NFKB1 and MAP-kinase activation during L. monocytogenes infection
  • critical role for NLRP6 in dampening host responses against several bacterial pathogens
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS immunity/defense , inflammation
    PATHWAY
    metabolism
    signaling signal transduction
  • inflammasome pathway, including NLRP6, PYCARD, CASP1, and IL18
  • a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein recruited by PYCARD to distinct cytoplasmic loci and inducing NF-kappa B activation
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • NLRP6 expression and PYCARD methylation may represent unique molecular markers of carcinogenesis
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    continuous stimulation of NLRP6 may represent a promising therapeutical strategy in Colorectal carcinoma
    immunologyinflammatory 
    continuous stimulation of NLRP6 may represent a promising therapeutical strategy in inflammatory bowel diseases
    immunologyinfectious 
    therapeutic inhibition of NLRP6 activation may prove beneficial for treating infectious diseases
    ANIMAL & CELL MODELS
  • Nlrp6 inflammasome-deficient mice were characterized by spontaneous intestinal hyperplasia, inflammatory cell recruitment
  • Nlrp6-deficient mice were highly resistant to infection with the bacterial pathogens Listeria monocytogenes, Salmonella typhimurium and Escherichia coli, and infected Nlrp6-deficient mice had increased numbers of monocytes and neutrophils in circulation