Target Information

This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site domain, and a leucine-rich repeat 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, and neonatal-onset multisystem inflammatory disease. 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.

Synonyms

AGTAVPRL; AII; AII/AVP; Angiotensin/vasopressin receptor AII/AVP-like; AVP; C1orf7; caterpiller protein 1.1; Cias1; CLR1.1; cold autoinflammatory syndrome 1 homolog; cold autoinflammatory syndrome 1 protein; cold autoinflammatory syndrome 1 protein homolog; Cold-induced autoinflammatory syndrome 1 protein; cryopyrin; FCAS; FCAS1; FCU; FLJ95925; mast cell maturation inducible protein 1; mast cell maturation-associated-inducible protein 1; Mmig1; MWS; NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3; NACHT, LRR and PYD containing protein 3; NACHT, LRR and PYD domains-containing protein 3; NACHT/LRR/pyrin domain-containing protein 3; NALP3; NLR family pyrin domain containing 3; NLR family, pyrin domain containing 3; Nlrp3; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3; PYPAF1; PYRIN-containing APAF1-like protein 1