| Entrez Gene ID |
114548 (NCBI Gene) |
| Official Gene Symbol |
CIAS1 (GeneCards) |
| Number of variants in NLRP3 in this database |
78 (view all the variants) |
| Full name |
NLR family pyrin domain containing 3 |
| Band |
1q44 |
| Other IDs |
Vega:
OTTHUMG00000040647
OMIM:
606416
HGNC:
HGNC:16400
Ensembl:
ENSG00000162711
|
| Other names |
AII,
AVP,
FCU,
MWS,
FCAS,
KEFH,
CIAS1,
FCAS1,
NALP3,
C1orf7,
CLR1.1,
DFNA34,
PYPAF1,
AGTAVPRL
|
| Summary |
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] |