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FLASH GENE
Symbol NLRP7 contributors: mct/pgu - updated : 13-12-2023
HGNC name NLR family, pyrin domain containing 7
HGNC id 22947
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland    
Reproductivefemale systemplacenta  highly Homo sapiens
 female systemuterus    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow    Homo sapiens
Epithelialbarrier liningendometrium   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticprogenitor cell Homo sapiens
Reproductiveoocyte Homo sapiens
cell lineage in the decidual stromal cells of human first-trimester endometrium
  • is predominantly expressed in the trophoblasts during the hypoxic period of placental development and its expression is upregulated by hypoxia
  • 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
  • NOD-like receptor 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
  • NLRP7 contributes likely to in vitro decidualization of endometrial stromal cells
  • NLRP7 is likely a primate-specific multitasking gene to maintain endometrial hemostasis and reproductive success
  • evidence of its role in inflammasome regulation and its implication in human reproductive diseases.
  • NLRP7 increases trophoblast proliferation and decreases their differentiation, both in normal and tumor conditions
  • can function in an inflammasome-dependent or independent pathway
  • 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
  • ZBTB16 is an interacting protein of NLRP7
  • is constitutively ubiquitinated and recruited to the endolysosome for degradation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HYDM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in testicular seminomas
    tumoral       gain of function
    in colorectal cancer (CRC) and associated with poor survival
    tumoral     --over  
    in Gestational choriocarcinoma (CC) trophoblast cells and may contribute to their acquisition of immune tolerance via the regulation of key immune tolerance-associated factors
    constitutional     --other  
    NLRP7 machinery is deregulated in Fetal growth restriction (FGR) pregnancies
    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
  • NLRP7 could serve as a biomarker in CRC
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    NLRP7 could serve as a novel therapeutic target for the treatment of CRC
    reproductionpregnancy 
    way for therapies of pathological pregnancies
    ANIMAL & CELL MODELS