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FLASH GENE
Symbol NLRP9 contributors: mct - updated : 01-12-2020
HGNC name NLR family, pyrin domain containing 9
HGNC id 22941
Location 19q13.42      Physical location : 56.219.798 - 56.249.768
Synonym name
  • NACHT, leucine rich repeat and PYD containing 9
  • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9
  • caterpiller ((CARD, Transcription Enhancer, R (purine)-binding, Pyrin, Lots of Leucine Repeats)19.1
  • Synonym symbol(s) NOD6, CLR19.1, NALP9, PAN12
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text component of a cluster of PYPAF genes
    STRUCTURE 29.96 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3478 - 991 - 2003 12766759
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
    Reproductivefemale systemuterus   
     female systemovary    Homo sapiens
     male systemtestis    Homo sapiens
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductiveoocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a NACHT domain
  • a leucine-rich repeat region
  • HOMOLOGY
    Homologene
    FAMILY NALP family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text highly expressed in human primordial and primary follicle
    basic FUNCTION
  • may be implicated in activation of proinflammatory caspases
  • implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cells response to microbial infection (Tschopp 2003)
  • play important roles in both mammalian innate immune system and reproductive system (Tian 2009)
  • may have likely a crucial role in human preimplantation embryo and infertility
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling signal transduction
    a component may be a part of inflammasome complexes
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to multiple sclerosis (MS)
    Variant & Polymorphism SNP
  • SNP, rs10423927, in NLRP9 (NLR family pyrin domain containing 9) associated with benign form of MS
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS