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Entrez GeneID

Protein Accession#

Gene Name

NLRP3

Gene Alias

AGTAVPRL, AII, AII/AVP, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCU, FLJ95925, MWS, NALP3, PYPAF1

Gene Description

NLR family, pyrin domain containing 3

Omim ID

Gene Ontology

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 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

Other Designations

AII/AVP receptor-like|NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3|NACHT, LRR and PYD containing protein 3|OTTHUMP00000038408|OTTHUMP00000038409|OTTHUMP00000038410|PYRIN-containing APAF1-like protein 1|angiotensin/vasopressin receptor