LongevityMap Gene

Gene details

HGNC symbol
NLRP1 
Aliases
NAC; MSPC; AIADK; CARD7; CIDED; NALP1; SLEV1; DEFCAP; PP1044; VAMAS1; CLR17.1; DEFCAP-L/S 
Common name
NLR family pyrin domain containing 1 
Description
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
17p13.2
UCSC Genome Browser
View 17p13.2 on the UCSC genome browser
OMIM
606636
Ensembl
ENSG00000091592
UniProt/Swiss-Prot
NLRP1_HUMAN
Entrez Gene
22861
UniGene
652273
1000 Genomes
1000 Genomes

Homologs in model organisms

Mus musculus
Nlrp1b
Rattus norvegicus
Nlrp1b

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
German
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.
Conclusions
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.
Indentifier
rs2301582
Reference