NLR family, pyrin domain containing 3
External IDs OMIM606416 MGI2653833 HomoloGene3600 GeneCards: NLRP3 Gene
RNA expression pattern
PBB GE NLRP3 216015 s at tn.png
PBB GE NLRP3 207075 at tn.png
More reference expression data
Species Human Mouse
Entrez 114548 216799
Ensembl ENSG00000162711 ENSMUSG00000032691
UniProt Q96P20 Q1JQ87
RefSeq (mRNA) NM_001079821.2 NM_145827.3
RefSeq (protein) NP_001073289.1 NP_665826.1
Location (UCSC) Chr 1:
247.58 – 247.61 Mb
Chr 11:
59.36 – 59.38 Mb
PubMed search [1] [2]

NACHT, LRR and PYD domains-containing protein 3 (NALP3) or cryopyrin is a protein that in humans is encoded by the NLRP3 (NOD-like receptor family, pryin domain containing 3) gene.[1][2] The gene is also called cold induced autoinflammatory syndrome 1 (CIAS1) and is located on the long arm of chromosome 1. Another name for the protein is caterpiller-like receptor 1.1 (CLR1.1).

This gene encodes a pyrin-like protein which contains a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with apoptosis-associated speck-like protein containing a CARD (ASC). Proteins which contain the caspase recruitment domain, CARD, have been shown to be involved in inflammation and immune response. This protein may function as an activator of NF-κB signaling.


The encoded protein may play a role in the regulation of inflammation and apoptosis. Mutations in this gene have been associated with a spectrum of dominantly inherited autoinflammatory diseases called cryopyrin-associated periodic syndrome (CAPS). This includes 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.[2]

Cryopyrin is contained in the intracellular inflammasome. It has also been linked to the pathogenesis of pseudogout, gout, and familial Mediterranean fever.[citation needed]


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