Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Nlrp3. (This text reflects annotations as of Thursday, July 24, 2014.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. Mutations in this gene are 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. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• The gene product of Nlrp3 has been shown to bind to the gene products of Eif2ak2. ^[5]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Nlrp3
  • participates in the following biological processes:
    • activation of cysteine-type endopeptidase activity involved in apoptotic process ^[2]
    • defense response to virus ^[2]
    • interleukin-1 beta production ^[4]
    • interleukin-1 secretion ^[2]
    • interleukin-18 production ^[2]
    • NLRP3 inflammasome complex assembly ^[4]
    • regulation of inflammatory response ^[1]
  • is located in the following cellular components:
    • cell ^[2]
• Researchers have inferred, based on genetic interactions, that the gene product of Nlrp3
  • participates in the following biological processes:
    • positive regulation of interleukin-1 beta secretion based on interactions with Aim2, Casp4, Pycard ^{[3, 6]}

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Nlrp3:
  • participates in the following biological processes:
    • cellular response to lipopolysaccharide
    • inflammatory response
    • negative regulation of acute inflammatory response
    • negative regulation of inflammatory response
    • negative regulation of interleukin-1 beta secretion
    • negative regulation of NF-kappaB import into nucleus
    • negative regulation of NF-kappaB transcription factor activity
    • positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
    • positive regulation of interleukin-1 beta secretion
    • positive regulation of NF-kappaB transcription factor activity
  • is located in the following cellular components:
    • cytoplasm
    • NLRP3 inflammasome complex

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Nlrp3 indicates that it:
  • participates in the following biological processes:
    • apoptotic process
  • performs the following molecular functions:
    • ATP binding
    • nucleotide binding

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References

1. Henao-Mejia J et al. (2012) Inflammasome-mediated dysbiosis regulates progression of NAFLD and obesity. Nature, 482:179-85. (PubMed:22297845)
2. Kanneganti TD et al. (2006) Critical role for Cryopyrin/Nalp3 in activation of caspase-1 in response to viral infection and double-stranded RNA. J Biol Chem, 281:36560-8. (PubMed:17008311)
3. Kayagaki N et al. (2011) Non-canonical inflammasome activation targets caspase-11. Nature, 479:117-21. (PubMed:22002608)
4. Kovarova M et al. (2012) NLRP1-dependent pyroptosis leads to acute lung injury and morbidity in mice. J Immunol, 189:2006-16. (PubMed:22753929)
5. Lu B et al. (2012) Novel role of PKR in inflammasome activation and HMGB1 release. Nature, 488:670-4. (PubMed:22801494)
6. Shah S et al. (2013) Cutting edge: Mycobacterium tuberculosis but not nonvirulent mycobacteria inhibits IFN-beta and AIM2 inflammasome-dependent IL-1beta production via its ESX-1 secretion system. J Immunol, 191:3514-8. (PubMed:23997220)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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