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Nlrp3
Gene Detail
Symbol

Name
ID
Nlrp3
NLR family, pyrin domain containing 3
MGI:2653833
Synonyms
Cias1, cryopyrin, Mmig1, NALP3, Pypaf1
Feature Type
protein coding gene
Genetic Map
Chromosome 11
37.73 cM, cytoband B1.3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr11:59541568-59566955 bp, + strand
From VEGA annotation of GRCm38

  25388 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3600  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 16 western clawed frog

Protein SuperFamily: NALP protein
Gene Tree: Nlrp3

Human
homologs
Human Homolog NLRP3, NLR family, pyrin domain containing 3
NCBI Gene ID 114548
neXtProt AC  NX_Q96P20
Human Synonyms  AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCU, MWS, NALP3, PYPAF1
Human Chr (Location)  1q44; chr1:247415945-247449108 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human NLRP3
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Chemically induced (ENU)(5) Targeted(11)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Nlrp3 (3)    Alleles Annotated to Human Diseases(5)   
Interactions
Nlrp3 interacts with 128 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process activation of cysteine-type endopeptidase activity involved in apoptotic process, apoptotic process, ...
Component cell, cytoplasm, ...
Function ATP binding, nucleotide binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (43)    Tissues (29)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 43
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000005801 (Evidence)
Ensembl Gene ModelENSMUSG00000032691 (Evidence)
Entrez Gene216799 (Evidence)
UniGene54174
DFCITC1584449
DoTSDT.99563785, DT.97391250
NIA Mouse Gene IndexU012684
Consensus CDS ProjectCCDS24771.1
International Mouse Knockout Project StatusNlrp3
Sequences
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 sequences
All sequences(40) RefSeq(9) UniProt(5)
Polymorphisms
SNPs within 2kb(403 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004020 DAPIN domain
InterPro IPR011029 Death-like domain
InterPro IPR001611 Leucine-rich repeat
InterPro IPR003590 Leucine-rich repeat, ribonuclease inhibitor subtype
InterPro IPR007111 NACHT nucleoside triphosphatase
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000011271 NACHT, LRR and PYD domains-containing protein 3
References
(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:212606 Lu M, et al., Uncoupling protein 2 deficiency aggravates astrocytic endoplasmic reticulum stress and nod-like receptor protein 3 inflammasome activation. Neurobiol Aging. 2014 Feb;35(2):421-30
All references(270)
Disease annotation references (3)

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
11/11/2014
MGI 5.20
The Jackson Laboratory