- HGNC symbol
- NAC; MSPC; AIADK; CARD7; CIDED; NALP1; SLEV1; DEFCAP; PP1044; VAMAS1; CLR17.1; DEFCAP-L/S
- Common name
- NLR family pyrin domain containing 1
- This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- UCSC Genome Browser
- View 17p13.2 on the UCSC genome browser
- Entrez Gene
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Longevity Association
- Study Design
- Targeted investigation of 500 SNPs in 343 selected genes associated with longevity in model systems. A sample of 386 unrelated German centenarians (mean age: 101.3 years) and 410 control subjects (mean age: 66.6 years) were studied.
- No significant associations were found after correcting for multiple testing, though three SNPs (rs770087, rs2301582 and rs648802 in, respectively, DUSP6, NALP1 and PERP) had a suggestive association. This association was not confirmed in an independent French collection of 541 centenarians and 469 younger controls.