NLRP1

NLR family, pyrin domain containing 1
Rendering of NLRP1 from PDB 1PN5
Available structures PDB 1PN5, 3KAT
Identifiers
Symbols	NLRP1; CARD7; CLR17.1; DEFCAP; DEFCAP-L/S; DKFZp586O1822; KIAA0926; NAC; NALP1; PP1044; SLEV1; VAMAS1
External IDs	OMIM: 606636 MGI: 2684861 HomoloGene: 19080 GeneCards: NLRP1 Gene
Gene Ontology Molecular function • nucleotide binding • protein binding • ATP binding • caspase activator activity • enzyme binding • protein domain specific binding Cellular component • intracellular • nucleus • cytoplasm • NALP1 inflammasome complex Biological process • induction of apoptosis • induction of apoptosis • activation of caspase activity • activation of caspase activity • response to muramyl dipeptide • defense response to bacterium • regulation of apoptosis • positive regulation of interleukin-1 beta secretion • regulation of inflammatory response • neuron apoptosis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	22861	195046
Ensembl	ENSG00000091592	ENSMUSG00000069830
UniProt	Q9C000	n/a
RefSeq (mRNA)	NM_001033053.2	NM_001004142.2
RefSeq (protein)	NP_001028225.1	NP_001004142.2
Location (UCSC)	Chr 17: 5.4 – 5.49 Mb	Chr 11: 70.9 – 70.96 Mb
PubMed search	[1]	[2]

NACHT, LRR and PYD domains-containing protein 1 is a protein that in humans is encoded by the NLRP1 gene.^[1][2][3]

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.^[3]

Interactions

NLRP1 has been shown to interact with caspase 9^[4][5] and APAF1.^[4]

References

1. ^ Thorpe KL, Abdulla S, Kaufman J, Trowsdale J, Beck S (Oct 1996). "Phylogeny and structure of the RING3 gene". Immunogenetics 44 (5): 391–6. doi:10.1007/BF02602785. PMID 8781126. 
2. ^ Tschopp J, Martinon F, Burns K (Feb 2003). "NALPs: a novel protein family involved in inflammation". Nat Rev Mol Cell Biol 4 (2): 95–104. doi:10.1038/nrm1019. PMID 12563287. 
3. ^ ^{a b} "Entrez Gene: NLRP1 NLR family, pyrin domain containing 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22861. 
4. ^ ^{a b} Chu, Z L; Pio F, Xie Z, Welsh K, Krajewska M, Krajewski S, Godzik A, Reed J C (Mar. 2001). "A novel enhancer of the Apaf1 apoptosome involved in cytochrome c-dependent caspase activation and apoptosis". J. Biol. Chem. (United States) 276 (12): 9239–45. doi:10.1074/jbc.M006309200. ISSN 0021-9258. PMID 11113115. 
5. ^ Hlaing, T; Guo R F, Dilley K A, Loussia J M, Morrish T A, Shi M M, Vincenz C, Ward P A (Mar. 2001). "Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins". J. Biol. Chem. (United States) 276 (12): 9230–8. doi:10.1074/jbc.M009853200. ISSN 0021-9258. PMID 11076957. 

Further reading

• Bertin J, DiStefano PS (2001). "The PYRIN domain: a novel motif found in apoptosis and inflammation proteins.". Cell Death Differ. 7 (12): 1273–4. doi:10.1038/sj.cdd.4400774. PMID 11270363. 
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474. 
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139146. 
• Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032. 
• Hlaing T, Guo RF, Dilley KA, et al. (2001). "Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins.". J. Biol. Chem. 276 (12): 9230–8. doi:10.1074/jbc.M009853200. PMID 11076957. 
• Chu ZL, Pio F, Xie Z, et al. (2001). "A novel enhancer of the Apaf1 apoptosome involved in cytochrome c-dependent caspase activation and apoptosis.". J. Biol. Chem. 276 (12): 9239–45. doi:10.1074/jbc.M006309200. PMID 11113115. 
• Martinon F, Hofmann K, Tschopp J (2001). "The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation.". Curr. Biol. 11 (4): R118–20. doi:10.1016/S0960-9822(01)00056-2. PMID 11250163. 
• Damiano JS, Stehlik C, Pio F, et al. (2001). "CLAN, a novel human CED-4-like gene.". Genomics 75 (1-3): 77–83. doi:10.1006/geno.2001.6579. PMID 11472070. 
• Nath SK, Kelly JA, Namjou B, et al. (2002). "Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus.". Am. J. Hum. Genet. 69 (6): 1401–6. doi:10.1086/324470. PMC 1235552. PMID 11592035. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1235552. 
• Martinon F, Burns K, Tschopp J (2002). "The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta.". Mol. Cell 10 (2): 417–26. doi:10.1016/S1097-2765(02)00599-3. PMID 12191486. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Hiller S, Kohl A, Fiorito F, et al. (2004). "NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain.". Structure 11 (10): 1199–205. doi:10.1016/j.str.2003.08.009. PMID 14527388. 
• Spritz RA, Gowan K, Bennett DC, Fain PR (2004). "Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis.". Am. J. Hum. Genet. 74 (1): 188–91. doi:10.1086/381134. PMC 1181907. PMID 14691733. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1181907. 
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Damiano JS, Oliveira V, Welsh K, Reed JC (2004). "Heterotypic interactions among NACHT domains: implications for regulation of innate immune responses.". Biochem. J. 381 (Pt 1): 213–9. doi:10.1042/BJ20031506. PMC 1133779. PMID 15107016. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1133779. 
• Liu F, Lo CF, Ning X, et al. (2005). "Expression of NALP1 in cerebellar granule neurons stimulates apoptosis.". Cell. Signal. 16 (9): 1013–21. doi:10.1016/j.cellsig.2004.02.006. PMID 15212762.