CIAS1

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NLR family, pyrin domain containing 3
Identifiers
Symbol(s) NLRP3; AVP; AGTAVPRL; AII; AII/AVP; C1orf7; CIAS1; CLR1.1; FCAS; FCU; MWS; NALP3; PYPAF1
External IDs OMIM: 606416 MGI: 2653833 HomoloGene: 3600
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 114548 216799
Ensembl ENSG00000162711 ENSMUSG00000032691
Uniprot Q96P20 Q1JQ87
Refseq NM_001079821 (mRNA)
NP_001073289 (protein)		 XM_001003938 (mRNA)
XP_001003938 (protein)
Location Chr 1: 245.65 - 245.68 Mb Chr 11: 59.36 - 59.38 Mb
Pubmed search [1] [2]

NLR family, pyrin domain containing 3, also known as NLRP3, is a human gene.[1]

This gene encodes a pyrin-like protein which contains a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with apoptosis-associated speck-like protein containing a CARD. Proteins which contain the caspase recruitment domain, CARD, have been shown to be involved in inflammation and immune response. This protein may function as an activator of NF-kappaB signaling. The encoded protein may play a role in the regulation of inflammation and apoptosis. Mutations in this gene have been associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.[1]

CIAS1, or cold induced autoinflammatory syndrome 1, is a gene that encodes a protein called "cryopyrin" that has important roles in controlling inflammation; the gene product is also known under the names CATERPILLER-like receptor 1.1 (CLR1.1), NALP3, and NOD-like receptor family, pryin domain containing 3 (NLRP3).

CIAS1 is located on the long arm of chromosome 1.

[edit] Pathology

Mutations in the gene for CIAS1 have been linked to autoinflammatory diseases such as Muckle-Wells syndrome and familial cold urticaria syndrome, two dominantly inherited disorders with some similarities to neonatal onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic cutaneous articular syndrome (CINCA).

[edit] References

  1. ^ a b Entrez Gene: NLRP3 NLR family, pyrin domain containing 3.

[edit] Further reading

  • 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. 
  • Martinon F, Tschopp J (2006). "NLRs join TLRs as innate sensors of pathogens.". Trends Immunol. 26 (8): 447–54. doi:10.1016/j.it.2005.06.004. PMID 15967716. 
  • Mao M, Fu G, Wu JS, et al. (1998). "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.". Proc. Natl. Acad. Sci. U.S.A. 95 (14): 8175–80. PMID 9653160. 
  • Hoffman HM, Wright FA, Broide DH, et al. (2000). "Identification of a locus on chromosome 1q44 for familial cold urticaria.". Am. J. Hum. Genet. 66 (5): 1693–8. PMID 10741953. 
  • Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.". Genome Res. 10 (10): 1546–60. PMID 11042152. 
  • Hoffman HM, Mueller JL, Broide DH, et al. (2001). "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.". Nat. Genet. 29 (3): 301–5. doi:10.1038/ng756. PMID 11687797. 
  • Manji GA, Wang L, Geddes BJ, et al. (2002). "PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B.". J. Biol. Chem. 277 (13): 11570–5. doi:10.1074/jbc.M112208200. PMID 11786556. 
  • Srinivasula SM, Poyet JL, Razmara M, et al. (2002). "The PYRIN-CARD protein ASC is an activating adaptor for caspase-1.". J. Biol. Chem. 277 (24): 21119–22. doi:10.1074/jbc.C200179200. PMID 11967258. 
  • Dodé C, Le Dû N, Cuisset L, et al. (2002). "New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.". Am. J. Hum. Genet. 70 (6): 1498–506. PMID 11992256. 
  • Feldmann J, Prieur AM, Quartier P, et al. (2002). "Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.". Am. J. Hum. Genet. 71 (1): 198–203. PMID 12032915. 
  • Fiorentino L, Stehlik C, Oliveira V, et al. (2002). "A novel PAAD-containing protein that modulates NF-kappa B induction by cytokines tumor necrosis factor-alpha and interleukin-1beta.". J. Biol. Chem. 277 (38): 35333–40. doi:10.1074/jbc.M200446200. PMID 12093792. 
  • Aganna E, Martinon F, Hawkins PN, et al. (2002). "Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.". Arthritis Rheum. 46 (9): 2445–52. doi:10.1002/art.10509. PMID 12355493. 
  • 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. 
  • Aksentijevich I, Nowak M, Mallah M, et al. (2003). "De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.". Arthritis Rheum. 46 (12): 3340–8. doi:10.1002/art.10688. PMID 12483741. 
  • Hoffman HM, Gregory SG, Mueller JL, et al. (2003). "Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.". Hum. Genet. 112 (2): 209–16. doi:10.1007/s00439-002-0860-x. PMID 12522564. 
  • Dowds TA, Masumoto J, Chen FF, et al. (2003). "Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product.". Biochem. Biophys. Res. Commun. 302 (3): 575–80. PMID 12615073. 
  • Granel B, Philip N, Serratrice J, et al. (2003). "CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.". Dermatology (Basel) 206 (3): 257–9. doi:10.1159/000068883. PMID 12673085. 
  • Neven B, Callebaut I, Prieur AM, et al. (2004). "Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.". Blood 103 (7): 2809–15. doi:10.1182/blood-2003-07-2531. PMID 14630794. 
  • O'Connor W, Harton JA, Zhu X, et al. (2004). "Cutting edge: CIAS1/cryopyrin/PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappa B suppressive properties.". J. Immunol. 171 (12): 6329–33. PMID 14662828. 
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