About   Help   FAQ
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

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
Alleles
and
phenotypes
All 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)   
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)
Theiler Stages: 19, 23, 28
Assay TypeResults
RNA in situ 43
cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress
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.97391250, DT.99563785
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(38) RefSeq(9) UniProt(3)
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:209984 Hara K, et al., Airway uric acid is a sensor of inhaled protease allergens and initiates type 2 immune responses in respiratory mucosa. J Immunol. 2014 May 1;192(9):4032-42
All references(261)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/15/2014
MGI 5.18
The Jackson Laboratory