Also known as FCAS, AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS1
NLR family pyrin domain containing 3 (NLRP3) is a protein that in humans is encoded by the NLRP3 gene located on the long arm of chromosome 1. NLRP3 has previously been known as NACHT, LRR, and PYD domains-containing protein 3 [NALP3]; cryopyrin; cold induced autoinflammatory syndrome 1 (CIAS1), caterpillar-like receptor 1.1 (CLR1.1), and PYRIN-containing APAF1-like protein 1 (PYPAF1).
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 NLRP3 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. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. 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, Aug 2020].
NLR family pyrin domain containing 3 (NLRP3) is a protein that in humans is encoded by the NLRP3 gene located on the long arm of chromosome 1. NLRP3 has previously been known as NACHT, LRR, and PYD domains-containing protein 3 [NALP3]; cryopyrin; cold induced autoinflammatory syndrome 1 (CIAS1), caterpillar-like receptor 1.1 (CLR1.1), and PYRIN-containing APAF1-like protein 1 (PYPAF1).
NLRP3 is a component of the innate immune system that functions as a pattern recognition receptor (PRR) – a cytosolic sensor that responds to pathogen-associated molecular patterns (PAMPs) and damage-associated molecular patterns (DAMPs). NLRP3 belongs to the NOD-like receptor (NLR) family of PRRs.
Biological process
Molecular function
via MyGene.info
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).