NLRP1

NLRP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1PN5, 3KAT, 4IFP, 4IM6
Identifiers
Aliases	NLRP1, CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, NAC, NALP1, PP1044, SLEV1, VAMAS1, NLR family, pyrin domain containing 1, NLR family pyrin domain containing 1, MSPC, AIADK, JRRP
External IDs	OMIM: 606636; MGI: 3582959; HomoloGene: 19080; GeneCards: NLRP1; OMA:NLRP1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17p13.2 Start 5,499,427 bp End 5,619,424 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 B4 Start 71,043,928 bp End 71,121,559 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte monocyte blood skin of abdomen spleen skin of leg lymph node right lung appendix apex of heart Top expressed in jejunum ileum colon duodenum granulocyte zone of skin lip spleen ovary thymus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein domain specific binding nucleotide binding cysteine-type endopeptidase activator activity involved in apoptotic process ATP binding enzyme binding protein binding Cellular component cytoplasm inflammasome complex nucleus intracellular anatomical structure nucleoplasm cytosol NLRP1 inflammasome complex Biological process neuron apoptotic process regulation of apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process response to muramyl dipeptide apoptotic process defense response to bacterium regulation of inflammatory response immune system process inflammatory response innate immune response viral process NLRP1 inflammasome complex assembly positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 22861 637515 Ensembl ENSG00000091592 ENSMUSG00000070390 UniProt Q9C000 Q2LKV5 Q2LKV2 Q2LKW6 Q0GKD5 RefSeq (mRNA) NM_033007 NM_001033053 NM_014922 NM_033004 NM_033006 NM_001039680 NM_001040696 NM_001162414 RefSeq (protein) NP_001028225 NP_055737 NP_127497 NP_127499 NP_127500 NP_001035786 NP_001155886 Location (UCSC) Chr 17: 5.5 – 5.62 Mb Chr 11: 71.04 – 71.12 Mb PubMed search
Wikidata
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NACHT, LRR and PYD domains-containing protein 1 is a protein that in humans is encoded by the NLRP1 gene.

Function

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. The NLRP1 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.

Interactions

NLRP1 has been shown to interact with caspase 9 and APAF1.

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, Liu W, Gibbs RA (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, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (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, Loussia JM, Morrish TA, Shi MM, Vincenz C, Ward PA (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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Chu ZL, Pio F, Xie Z, Welsh K, Krajewska M, Krajewski S, Godzik A, Reed JC (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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• 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, Godzik A, Reed JC (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, Lam T, Bruner GR, Scofield RH, Aston CE, Harley JB (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.
• 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.
• Hiller S, Kohl A, Fiorito F, Herrmann T, Wider G, Tschopp J, Grütter MG, Wüthrich K (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.
• 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.
• Liu F, Lo CF, Ning X, Kajkowski EM, Jin M, Chiriac C, Gonzales C, Naureckiene S, Lock YW, Pong K, Zaleska MM, Jacobsen JS, Silverman S, Ozenberger BA (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.