GO curators for mouse genes have assigned the following annotations to the gene product of Nlrp3. (This text reflects annotations as of Wednesday, August 14, 2013.) Summary from NCBI RefSeq
[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]Summary text based on GO annotations supported by experimental evidence in mouse
The gene product of Nlrp3 has been shown to bind to the gene products of Eif2ak2. [5]
Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Nlrp3
participates in the following biological processes:
Henao-Mejia J et al. (2012) Inflammasome-mediated dysbiosis regulates progression of NAFLD and obesity. Nature, 482:179-85. (PubMed:22297845)
Kanneganti TD et al. (2006) Critical role for Cryopyrin/Nalp3 in activation of caspase-1 in response to viral infection and double-stranded RNA. J Biol Chem, 281:36560-8. (PubMed:17008311)
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