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FLASH GENE
Symbol NLRP12 contributors: mct - updated : 07-04-2008
HGNC name NLR family, pyrin domain containing 12
HGNC id 22938
Corresponding disease
FACS2 familial cold autoinflammatory syndrome 2
Location 19q13.42      Physical location : 54.296.856 - 54.327.648
Synonym name
  • PYRIN-containing Apaf1-like proteins 7
  • RNO2 leucine-rich-repeat protein
  • monarch 1
  • PYRIN-containing APAF1-like protein 7 mRNA
  • NACHT, leucine rich repeat and PYD containing 12
  • caterpiller (CARD, Transcription Enhancer, R (purine)-binding, Pyrin, Lots of Leucine Repeats)19.3
  • Synonym symbol(s) RNO2, PYPAF7, Monarch-1, RNO, NALP12, PAN6, CLR19.3, FCAS2
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text component of a cluster of PYPAF genes
    STRUCTURE 30.00 kb     10 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 2494 31.7 287 - Williams, Ye (2008)
    - splicing 3827 120.1 1061 - Williams, Ye (2008)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Reproductivemale systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticeosinophil
    Blood/Hematopoieticgranulocyte
    Blood/Hematopoieticmonocyte
    cell lineage
    cell lines lymphoma
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal PYN (Pyrin-PAAD-Dapin) domain
  • a nucleotide binding site (NBS-NACHT subfamily)
  • eight leucine rich repeats (LRR)
  • Walker A/B motifs required to undergo self-oligomerization, Toll-like receptor- or CD40L-activated association with NF-kappaB-inducing kinase (NIK) and interleukin-1 receptor-associated kinase 1 (IRAK-1), degradation of NIK, and inhibition of IRAK-1 phosphorylation (Ye 2008)
  • HOMOLOGY
    Homologene
    FAMILY nucleotide binding site (NB)/LRR family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • enhancing nonclassical and classical major
  • histocompatibility complex class I expression at the level of the promoter, RNA, and protein expression
  • playing a crucial role in inflammatory signaling pathways
  • participating in inflammatory signaling by regulating the activation of NF-kappa B and cytokine processing
  • may mediate activation of CASP1 via PYCARD and promote activation of NF-kappa-B via IKK
  • antagonizing inflammatory responses initiated by Toll-like receptor agonists via interference with IRAK-1 activation
  • implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cells response to microbial infection (Tschopp 2003)
  • NLR protein that negatively regulates NF-kappaB signaling, specifically binds ATP and exhibits ATP hydrolysis activity (Ye 2010)
  • play important roles in both mammalian innate immune system and reproductive system (Tian 2009)
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • recruited by PYCARD to distinct cytoplasmic loci and inducing NF-kappa B activation, with its dapin domain
  • cell & other
    REGULATION
    Other regulated by ATP binding (ATP binding regulates the anti-inflammatory activity) (Ye 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) FACS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS