CIAS1

CIAS1

NLR family, pyrin domain containing 3, also known as NLRP3, is a human gene.cite web | title = Entrez Gene: NLRP3 NLR family, pyrin domain containing 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114548| accessdate = ]

PBB_Summary
section_title =
summary_text = 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-κB 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.cite web | title = Entrez Gene: NLRP3 NLR family, pyrin domain containing 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114548| accessdate = ]

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.

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).

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Tschopp J, Martinon F, Burns K |title=NALPs: a novel protein family involved in inflammation. |journal=Nat. Rev. Mol. Cell Biol. |volume=4 |issue= 2 |pages= 95–104 |year= 2003 |pmid= 12563287 |doi= 10.1038/nrm1019
*cite journal | author=Martinon F, Tschopp J |title=NLRs join TLRs as innate sensors of pathogens. |journal=Trends Immunol. |volume=26 |issue= 8 |pages= 447–54 |year= 2006 |pmid= 15967716 |doi= 10.1016/j.it.2005.06.004
*cite journal | author=Mao M, Fu G, Wu JS, "et al." |title=Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 14 |pages= 8175–80 |year= 1998 |pmid= 9653160 |doi=
*cite journal | author=Hoffman HM, Wright FA, Broide DH, "et al." |title=Identification of a locus on chromosome 1q44 for familial cold urticaria. |journal=Am. J. Hum. Genet. |volume=66 |issue= 5 |pages= 1693–8 |year= 2000 |pmid= 10741953 |doi=
*cite journal | author=Zhang QH, Ye M, Wu XY, "et al." |title=Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. |journal=Genome Res. |volume=10 |issue= 10 |pages= 1546–60 |year= 2001 |pmid= 11042152 |doi=
*cite journal | author=Hoffman HM, Mueller JL, Broide DH, "et al." |title=Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 301–5 |year= 2001 |pmid= 11687797 |doi= 10.1038/ng756
*cite journal | author=Manji GA, Wang L, Geddes BJ, "et al." |title=PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B. |journal=J. Biol. Chem. |volume=277 |issue= 13 |pages= 11570–5 |year= 2002 |pmid= 11786556 |doi= 10.1074/jbc.M112208200
*cite journal | author=Srinivasula SM, Poyet JL, Razmara M, "et al." |title=The PYRIN-CARD protein ASC is an activating adaptor for caspase-1. |journal=J. Biol. Chem. |volume=277 |issue= 24 |pages= 21119–22 |year= 2002 |pmid= 11967258 |doi= 10.1074/jbc.C200179200
*cite journal | author=Dodé C, Le Dû N, Cuisset L, "et al." |title=New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. |journal=Am. J. Hum. Genet. |volume=70 |issue= 6 |pages= 1498–506 |year= 2002 |pmid= 11992256 |doi=
*cite journal | author=Feldmann J, Prieur AM, Quartier P, "et al." |title=Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. |journal=Am. J. Hum. Genet. |volume=71 |issue= 1 |pages= 198–203 |year= 2002 |pmid= 12032915 |doi=
*cite journal | author=Fiorentino L, Stehlik C, Oliveira V, "et al." |title=A novel PAAD-containing protein that modulates NF-kappa B induction by cytokines tumor necrosis factor-alpha and interleukin-1beta. |journal=J. Biol. Chem. |volume=277 |issue= 38 |pages= 35333–40 |year= 2002 |pmid= 12093792 |doi= 10.1074/jbc.M200446200
*cite journal | author=Aganna E, Martinon F, Hawkins PN, "et al." |title=Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. |journal=Arthritis Rheum. |volume=46 |issue= 9 |pages= 2445–52 |year= 2002 |pmid= 12355493 |doi= 10.1002/art.10509
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Aksentijevich I, Nowak M, Mallah M, "et al." |title=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. |journal=Arthritis Rheum. |volume=46 |issue= 12 |pages= 3340–8 |year= 2003 |pmid= 12483741 |doi= 10.1002/art.10688
*cite journal | author=Hoffman HM, Gregory SG, Mueller JL, "et al." |title=Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. |journal=Hum. Genet. |volume=112 |issue= 2 |pages= 209–16 |year= 2003 |pmid= 12522564 |doi= 10.1007/s00439-002-0860-x
*cite journal | author=Dowds TA, Masumoto J, Chen FF, "et al." |title=Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. |journal=Biochem. Biophys. Res. Commun. |volume=302 |issue= 3 |pages= 575–80 |year= 2003 |pmid= 12615073 |doi=
*cite journal | author=Granel B, Philip N, Serratrice J, "et al." |title=CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. |journal=Dermatology (Basel) |volume=206 |issue= 3 |pages= 257–9 |year= 2003 |pmid= 12673085 |doi= 10.1159/000068883
*cite journal | author=Neven B, Callebaut I, Prieur AM, "et al." |title=Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. |journal=Blood |volume=103 |issue= 7 |pages= 2809–15 |year= 2004 |pmid= 14630794 |doi= 10.1182/blood-2003-07-2531
*cite journal | author=O'Connor W, Harton JA, Zhu X, "et al." |title=Cutting edge: CIAS1/cryopyrin/PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappa B suppressive properties. |journal=J. Immunol. |volume=171 |issue= 12 |pages= 6329–33 |year= 2004 |pmid= 14662828 |doi=

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