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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
  • Alliance
    gene page
  • Transcription Start Sites
    57 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:59432395-59457781 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 37.73 cM, cytoband B1.3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    999 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2653833
 protein coding gene Chr11:59432394-59457782 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018401
 protein coding gene Chr11:59384092-59411904 (+)
A/J MGP_AJ_G0018370
 protein coding gene Chr11:57111855-57137396 (+)
AKR/J MGP_AKRJ_G0018340
 protein coding gene Chr11:59027194-59054812 (+)
BALB/cJ MGP_BALBcJ_G0018341
 protein coding gene Chr11:57464070-57490284 (+)
C3H/HeJ MGP_C3HHeJ_G0018154
 protein coding gene Chr11:58889287-58917405 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018793
 protein coding gene Chr11:61262215-61293867 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016439
 protein coding gene Chr11:54357197-54382334 (+)
CAST/EiJ MGP_CASTEiJ_G0017711
 protein coding gene Chr11:59027303-59062013 (+)
CBA/J MGP_CBAJ_G0018128
 protein coding gene Chr11:63941167-63973636 (+)
DBA/2J MGP_DBA2J_G0018237
 protein coding gene Chr11:56781915-56808163 (+)
FVB/NJ MGP_FVBNJ_G0018228
 protein coding gene Chr11:56434530-56459888 (+)
LP/J MGP_LPJ_G0018310
 protein coding gene Chr11:59984113-60011021 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018252
 protein coding gene Chr11:65055320-65081278 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018834
 protein coding gene Chr11:59051988-59076945 (+)
PWK/PhJ MGP_PWKPhJ_G0017482
 protein coding gene Chr11:57369082-57406939 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017274
 protein coding gene Chr11:58840466-58868598 (+)
WSB/EiJ MGP_WSBEiJ_G0017762
 protein coding gene Chr11:58729834-58759850 (+)



Homology
more
  • Human Ortholog
    NLRP3, NLR family pyrin domain containing 3
  • Vertebrate Orthologs
    93
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NLRP3, NLR family pyrin domain containing 3
  • 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; chr1:247332331-247449108 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Nlrp3 mouse models; 5 with human NLRP3 associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    104 phenotypes from 21 alleles in 27 genetic backgrounds
    18 phenotypes from multigenic genotypes
    6 images
    714 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
less
  • All GO Annotations
    117
  • GO References
    42
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    755
  • Tissues
    32
  • cDNA Data
    8
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 216799 NCBI Gene Model | MGI Sequence Detail 25387 C57BL/6J ±  kb
    transcript NM_145827 RefSeq | MGI Sequence Detail 4033 C57BL/6  
    polypeptide Q8R4B8 UniProt | EBI | MGI Sequence Detail 1033 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 8
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 1055
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 42
      Phenotypes 714
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:358416 Maeda T, et al., Glyburide Suppresses Inflammation-Related Colorectal Tumorigenesis Through Inhibition of NLRP3 Inflammasome. Int J Mol Sci. 2024 Oct 30;25(21)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory