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Nlrp3 Gene Detail
Summary
  • Symbol
    Nlrp3
  • Name
    NLR family, pyrin domain containing 3
  • Synonyms
    Cias1, cryopyrin, Mmig1, NALP3, Pypaf1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2653833
    NCBI Gene: 216799
  • Gene Overview
    MyGene.info: NLRP3
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:59541568-59566955 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25388 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.73 cM, cytoband B1.3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NLRP3, NLR family pyrin domain containing 3
  • Vertebrate Orthologs
    24
  • Human Ortholog
    NLRP3, NLR family pyrin domain containing 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1
  • Links
    NCBI Gene ID: 114548
    neXtProt AC: NX_Q96P20
    UniProt: Q96P20

  • Chr Location
    1q44; chr1:247416156-247449108 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Nlrp3 mouse models; 4 with human NLRP3 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    92 phenotypes from 20 alleles in 25 genetic backgrounds
    15 phenotypes from multigenic genotypes
    6 images
    342 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000005801 VEGA Gene Model | MGI Sequence Detail 25388 C57BL/6J ±  kb
    transcript OTTMUST00000012840 VEGA | MGI Sequence Detail 3933 Not Applicable  
    polypeptide OTTMUSP00000005970 VEGA | MGI Sequence Detail 1033 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      391 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 7
      cDNA 7

      Microarray probesets 3
    References
    more
    • Summaries
      All 508
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 14
      Phenotypes 342
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:262083 Huang Y, et al., Tranilast directly targets NLRP3 to treat inflammasome-driven diseases. EMBO Mol Med. 2018 Apr;10(4)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory