NLRP3, NLR family pyrin domain containing 3

NLRP3, NLR family pyrin domain containing 3

• 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, Oct 2008]

• Gene Synonyms (AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1, NACHT, LRR and PYD domains-containing protein 3, NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3, NACHT, LRR and PYD containing protein 3, PYRIN-containing APAF1-like protein 1, caterpiller protein 1.1, cold autoinflammatory syndrome 1 protein, cold-induced autoinflammatory syndrome 1 protein, cryopyrin, cryopyrin, NACHT, LRR and PYD domains - containing protein 3, deafness, autosomal dominant 34, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3,)
• NCBI Gene ID: 114548
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q96P20
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

NLR family pyrin domain containing 3 interacts with:

• NLR family pyrin domain containing 5
  ubiquitin specific peptidase 50

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.