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Validated All-in-One™ qPCR Primer for NLRP3(NM_001079821.2) Search again
Product ID:
HQP091844
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1
Gene Description:
NLR family pyrin domain containing 3
Target Gene Accession:
NM_001079821.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis.
Gene References into function
- New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
- Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
- Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with familial cold urticaria and Muckle-Wells syndrome.
- De novo CIAS1 mutations in neonatal-onset multisystem inflammatory disease. We found 6 heterozygous missense substitutions in CIAS1. Germline mutations.
- a single heterozygous missense mutation (T1058C=L353P) in exon 3 of CIAS1 in all four families that is responsible for the large majority of FCAS cases
- there is a cryopyrin signaling pathway activated through the induced proximity of ASC, which is negatively regulated by pyrin
- mutated in CINCA syndrome
- CIAS1/cryopyrin may act as a key regulator of inflammation, induced to dampen NF-kappa B-dependent proinflammatory signals.
- cryopyrin disease-associated mutants are constitutively active and able to induce NF-kappaB activation and IL-1beta secretion at least in part by an increased ability to interact with ASC
- NALP3 forms a protein complex that processes IL-1 beta in macrophages from a patient with the Muckle-Wells autoinflammatory disorder.
- Missense mutations of CIAS1/PYPAF1/NALP3 gene occurred in 7 unrelated Spanish families with recurrent autoinflammatory diseases.
- data suggest that both pyrin and cryopyrin are capable of assembling independent inflammasome complexes with ASC and procaspase-1, and activating caspase-1 via ASC oligomerization
- Our approach yielded 26 candidate genes differentially expressed between patients (Osteoarthritis) and controls. BLP2 and CIAS1 seem to be trans-regulated, as the absence of allelic expression imbalances suggests.
- Faf1 interacts with PYPAF1 and negatively regulates NF-kB activation induced by co-expression of PYAF1 and ASC.
- monocytes undergo rapid cell death in a cathepsin B-dependent manner upon activation of cryopyrin, which is also a specific phenomenon induced by disease-associated mutation of CIAS1
- NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response
- Anakinra therapy was well tolerated and has sustained efficacy on dermatologic and rheumatic manifestations in these patients with CIAS-1/NALP3 mutations.
- identification of a novel CIAS1 mutation, F525C; mutation was shown to affect a highly conserved residue of the protein and to segregate with familial cold autoinflammatory syndrome throughout an extended family
- most mutations mapped to an inner surface of the hexameric ring in the cryopyrin, consistent with the hypothesis that the mutations disrupt a closed form of cryopyrin, thus potentiating inflammasome assembly
- The PRBC group had a significantly different expression profile included up-regulation of the cryopyrin protein. PRBCs activate inflammatory genes in circulating leukocytes.
- study provides evidence that activation of NALP3, but not of the IPAF inflammasome, is blocked by inhibiting K(+) efflux from cells
- A review of cryopyrinopathies caused by cryopyrin mutations.
- results showed that the requirements of ATP stimulation for IL-1beta release observed in healthy individuals are bypassed in patients bearing CIAS1 mutations
- functional expression of NLRP3 in osteoblasts provides potential mechanism underlying apoptotic cell death of these cells after challenge with intracellular bacterial pathogens & may be significant contributory factor to bone loss at sites of infection.
- this report identifies cryopyrin as an important host regulator of programmed pathogen-induced necrosis in animals, a process we term pyronecrosis.
- Effect of CIAS1 mutations in promoting necrosis-like cell death demonstrates that CIAS1 mosaicism plays an important role in mutation-negative Cias1-associated periodic syndrome.
- The phenotype-genotype analysis of a Brazilian cohort of patients with cryopyrin-associated periodic syndromes (CAPS) is described. The following missense mutations were found in the cryopyrin gene, T436I, G755R, and C148Y.
- We report a case of Muckle-Wells syndrome (MWS) caused by a novel mutation in the CIAS1/NALP3 gene.
- Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations.
- The researchers found a mutation in exon 3 in the CIAS1 gene in a patient with the CINCA syndrome.
- Mutations observed in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra.
- The NALP3 and TUCAN single-nucleotide polymorphisms may explain the increased IL-1beta levels and inflammatory symptoms observed, but further studies are needed to reveal a functional relationship.
- These findings support the use of monogenic loci as candidates for investigating the genetic component of complex disease and provide preliminary evidence of association between SNPs in autoinflammatory genes and psoriatic JIA
- Common variants in NLRP2 and NLRP3 genes are strong prognostic factors for the outcome of HLA-identical sibling allogeneic stem cell transplantation.
- significant KPNA1-, NLRP1- and NLRP3-gene expression phenotypes associated with human genotypes of Crohn's disease, Huntington's disease and rheumatoid arthritis
- These results suggest that the NLRP3 region is also implicated in the susceptibility of more common inflammatory diseases such as Crohn's disease.
- P. gingivalis causes ASC- and NLRP3-dependent necrosis