NLRP1
| NLR family, pyrin domain containing 1 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | NLRP1 ; NAC; CARD7; CLR17.1; DEFCAP; DEFCAP-L/S; DKFZp586O1822; KIAA0926; NALP1; PP1044 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 19080 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE NLRP1 210113 s at tn.png | |||||||||||
| File:PBB GE NLRP1 211822 s at tn.png | |||||||||||
| File:PBB GE NLRP1 211824 x at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
NLR family, pyrin domain containing 1, also known as NLRP1, is a human gene.[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.[1]
References
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.
- Tschopp J, Martinon F, Burns K (2003). "NALPs: a novel protein family involved in inflammation". Nat. Rev. Mol. Cell Biol. 4 (2): 95–104. doi:10.1038/nrm1019. PMID 12563287.
- 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.
- Thorpe KL, Abdulla S, Kaufman J; et al. (1996). "Phylogeny and structure of the RING3 gene". Immunogenetics. 44 (5): 391–6. PMID 8781126.
- Yu W, Andersson B, Worley KC; et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. PMID 9110174.
- 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. 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. 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. 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. 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. PMID 12477932.
- 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. 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. PMID 14691733.
- 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. PMID 15107016.
- 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.
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