NLRP3
LOCUS ID114548
GENE_SYMBOLNLRP3
GENE NAMENLR family, pyrin domain containing 3
SYNONYMNSAII, AVP, FCU, MWS, FCAS, CIAS1, FCAS1, LP3, C1orf7, CLR1.1, PYPAF1, AGTAVPRL
CHROMOSOME1
HOMOLOGENE ID3600
microRNAsNANA
GENE SUMMARY
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 LP3 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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Thrombomodulin domain 1 ameliorates diabetic nephropathy in mice via anti-NF- kappa B/NLRP3 inflammasome-mediated inflammation, enhancement of NRF2 antioxidant activity and inhibition of apoptosis. 2. Taken together, these suggest that ATP-P2X4 signaling mediates high glucose-induced activation of the NLRP3 inflammasome, regulates IL-1 family cytokine secretion, and causes the development of tubulointerstitial inflammation in DN. 3. The findings of this study supported the role of NLRP3 inflammasome in the development of DN. Two signals are required for full NLRP3 activation; the first is a TLR-dependent activation of NF-jB, which may be induced by extracellular HSP72, resulting in the upregulation of NLRP3 and pro-IL-1b expression (?priming?), and the second signal is NLRP3 activating signal which has been mechanistically linked with hyperglycemia and oxidative stress 24317792 , 25662186, 28631886
Cardiovascular1. These data imply that the beneficial effects of PSPC on diabetes-induced endothelial dysfunction and senescence are mediated through ROS and NLRP3 signaling pathways, suggesting a potential target for the prevention of endothelial senescence-related cardiovascular diseases.26164602
Atherosclerosis1. The expression of NLRP3 in SAT, which is affected by lifestyle-related diseases, is associated with the severity of coronary atherosclerosis.26282945