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FLASH GENE
Symbol NLRP5 contributors: mct/npt - updated : 05-05-2010
HGNC name NLR family, pyrin domain containing 5
HGNC id 21269
Location 19q13.43      Physical location : 56.511.091 - 56.573.172
Synonym name
  • maternal antigen that embryos require
  • NACHT, leucine rich repeat and PYD containing 5
  • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5
  • caterpiller ((CARD, Transcription Enhancer, R (purine)-binding, Pyrin, Lots of Leucine Repeats)19.8
  • Mater protein homolog
  • Synonym symbol(s) MATER, CLR19.8, NALP5, PAN11, PYPAF8
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text component of a cluster of PYPAF genes
    STRUCTURE 62.09 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3885 - 1200 - Tong (2002)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticplasma   
    Connectivebone   
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductiveoocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text oocytes
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal DAPIN domain, or PYD, pyrin death domain motif
  • one NACHT domain
  • 13 leucine-rich repeats (LRRs)
  • a CARD, caspase-recruitment domain
  • a NBS, nucleotide binding site
  • a C-terminal leucine-rich repeat domain involved in protein-protein interactions regulating different cellular functions (Maraldi 2009)
  • HOMOLOGY
    Homologene
    FAMILY
  • NLRP family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text
  • localizes at specific domains of oocytes and, also in cumulus cells (Maraldi 2009)
  • detectable at the onset of the follicular maturation process, suggesting this protein has a role at earlier stages in the human compared with other mammalian species (Sena 2009)
  • basic FUNCTION
  • may be implicated in early embryogenesis
  • may have a role in autoimmune premature ovarian failure and infertility in women
  • may have functions in injured neurons
  • may be involved in apoptosis
  • may be integral components that cause neuronal apoptosis following brain injury or diseases
  • implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cells response to microbial infection (Tschopp 2003)
  • tissue-specific autoantigen involved in hypoparathyroidism in patients with PGA1 (Alimohammadi 2008)
  • play important roles in both mammalian innate immune system and reproductive system (Tian 2009)
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP binding
  • protein
  • interacts with PRKCE in cumulus cells under physiological conditions (since PRKCE is known to collaborate with antiapoptotic signalling pathways, this suggests a novel mechanism for the function of NLRP5 in follicular maturation) (Maraldi 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS