Symbol: Name: ID: |
NLRP3 NLR family, pyrin domain containing 3 GFS:5516 |
Gene name: | NLRP3 |
Chromosome: | 1q44 |
Previous Symbols: | C1orf7, CIAS1 |
Previous Names: | cold autoinflammatory syndrome 1 |
Aliases: | AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1 |
Name Aliases: | Cryopyrin, |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2653833 | Rat Genome Database ID: | RGD:1308314 |
HGNC ID: | HGNC:16400 | RefSeq IDs: | NM_001079821 |
Entrez Gene ID: | 114548 | Ensembl Gene ID: | ENSG00000162711 |
VEGA IDs: | OTTHUMG00000040647 | UniProt ID: | Q96P20 |
UCSC ID: | uc001icr.2 | OMIM ID: | 606416 |
Pubmed: | PMID10741953 | ||
CCDS IDs: | CCDSCCDS1632.1 CCDS CCDS1633.1 CCDS CCDS44346.1 CCDS CCDS44347.1 |
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.
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].
Function: May function as an inducer of apoptosis. Interacts selectively with ASC and this complex may function as an upstream activator of NF-kappa-B signaling. Inhibits TNF-alpha induced activation and nuclear translocation of RELA/NF-KB p65. Also inhibits transcriptional activity of RELA. Activates caspase-1 in response to a number of triggers including bacterial or viral infection which leads to processing and release of IL1B and IL18.
Products for NLRP3 gene
Catalog | Product Name | Application | Company |
GFS:E05516 | NLR family, pyrin domain containing 3; ELISA kit | ELISA | n/a |
GFS:A05516 | NLR family, pyrin domain containing 3; Anti | ANTIBODIES | n/a |
GFS:P05516 | NLR family, pyrin domain containing 3; Protien | Protien | n/a |