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FLASH GENE
Symbol NLRP7 contributors: mct/pgu - updated : 22-12-2014
HGNC name NLR family, pyrin domain containing 7
HGNC id 22947
Corresponding disease
HYDM hydatidiform moles, familial
Location 19q13.42      Physical location : 55.434.877 - 55.458.873
Synonym name
  • PYRIN-containing Apaf1-like protein 3
  • NACHT, leucine rich repeat and PYD containing 7
  • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7
  • Synonym symbol(s) PYPAF3, NOD12, MGC126470, MGC126471, NALP7, PAN7, BICHM, CLR19.4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text component of a cluster of PYPAF genes
    STRUCTURE 42.75 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3337 - 1009 - 2003 12563287
    10 - 3250 - 980 - 2003 12563287
    11 - 3421 - 1037 - 2003 12563287
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland    
    Reproductivefemale systemplacenta   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiens
    Reproductiveoocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    physiological period embryo
    Text NLRP7 transcription declines during development from oocytes to day 3 but increases again by day 5
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal PYD (Pyrin-PAAD-Dapin) domain, that adopts a six-alpha-helix bundle death domain fold
  • a nucleotide binding site (NBS-NATCH subfamily)
  • a leucine rich repeat region (LRR)
  • HOMOLOGY
    Homologene
    FAMILY
  • PYRIN-containing apoptotic protease-activating factor-1-like proteins family
  • CATERPILLER protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text
  • co-localizes with the Golgi apparatus and the microtubule-organizing center (MTOC), which indicates that mutations in this gene may impair cytokine trafficking and secretion
  • NLRP7 and KHDC3L localize to the oocyte cytoskeleton and are polar and absent from the cell-to-cell contact region in early preimplantation embryos
  • basic FUNCTION
  • maternal effect gene, responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation
  • feedback regulator of interleukin-1beta secretion
  • regulating expression of imprinted genes on several chromosomes
  • inhibits caspase-1-dependent interleukin-1beta secretion
  • PYRIN-containing APAF-1-like protein, feedback regulator of caspase-1-dependent interleukin-1 beta secretion
  • could cause recurrent fetal loss by leading to defective oocytes or/and by creating a hostile maternal environment for embryonic development in the Fallopian tubes and the uterine cavity
  • play important roles in both mammalian innate immune system and reproductive system
  • regulates multiple important biological processes, especially during embryonic development
  • KHDC3L, NLRP7 having roles in the integrity of the oocytes, post-zygotic divisions, and cell-lineage differentiation
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS immunity/defense , inflammation
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • recruited by ASC to distinct cytoplasmic loci and inducing NF-kappa B activation (controversial)
  • negative regulator of IL1B
  • bind Fas-associated factor 1 (FAF1), a protein previously recognized to activate apoptosis and inhibit NF-KB activation through PYD domain
  • inhibits CASP1-dependent IL1B production
  • KHDC3L displays a juxta perinuclear signal and colocalizes with NLRP7 in lymphoblastoid cell lines from normal subjects
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HYDM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in testicular seminomas
    Susceptibility
  • to familial hydatidiform mole and spontaneous abortions
  • to idiopathic recurrent miscarriage
  • Variant & Polymorphism other
  • variants are present, not only in patients with diploid biparental moles as previously shown, but also in patients with diploid androgenetic moles, triploid moles and tetraploid spontaneous abortions
  • (rs26949)is significantly associated with idiopathic recurrent miscarriage
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS