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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
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
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: HGNC, HomoloGene
  • Synonyms
    AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCAS1, FCU, MWS, NALP3, PYPAF1
  • Links
    NCBI Gene ID: 114548
    neXtProt AC: NX_Q96P20

  • Chr Location
    1q44; chr1:247415904-247449108 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Nlrp3 mouse models; 3 with human NLRP3 associations

Human Disease Mouse Models
       CINCA Syndrome; CINCA   OMIM: 607115 View 1 model
Familial Cold Autoinflammatory Syndrome 1; FCAS1   OMIM: 120100 View 2 models
Muckle-Wells Syndrome; MWS   OMIM: 191900 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    92 phenotypes from 18 alleles in 23 genetic backgrounds
    15 phenotypes from multigenic genotypes
    6 images
    246 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    21
  • Chemically induced (ENU)
    9
  • Chemically induced (other)
    1
  • Targeted
    11
  • Genomic Mutations
    1 involving Nlrp3
  • Incidental Mutations
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
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    403 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000011271 NACHT, LRR and PYD domains-containing protein 3
  • InterPro Domains
    IPR004020 DAPIN domain
    IPR011029 Death-like domain
    IPR001611 Leucine-rich repeat
    IPR032675 Leucine-rich repeat domain, L domain-like
    IPR003590 Leucine-rich repeat, ribonuclease inhibitor subtype
    IPR029495 NACHT-associated domain
    IPR007111 NACHT nucleoside triphosphatase
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
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  • All nucleic 7
    cDNA 7

    Microarray probesets 3
References
more
  • Summaries
    All 311
    Developmental Gene Expression 1
    Diseases 3
    Gene Ontology 10
    Phenotypes 246
  • Earliest
    J:82173 Albrecht M, et al., Identification of mammalian orthologs associates PYPAF5 with distinct functional roles. FEBS Lett. 2003 Mar 13;538(1-3):173-7
  • Latest
    J:227936 Coll RC, et al., A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases. Nat Med. 2015 Mar;21(3):248-55

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
02/02/2016
MGI 6.02
The Jackson Laboratory