HUMAN:B7ZKS9

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	NLRP3
Protein Name(s)	NLRP3 protein
External Links
UniProt	B7ZKS9
EMBL	BC143359
UniGene	Hs.159483
ProteinModelPortal	B7ZKS9
UCSC	uc010pyw.2
HOVERGEN	HBG063656
NextBio	35481188
ArrayExpress	B7ZKS9
Bgee	B7ZKS9
GO	GO:0005524 GO:0006919 GO:0051607 GO:0050701 GO:0032621
Gene3D	1.10.533.10
InterPro	IPR004020 IPR011029 IPR003590 IPR007111 IPR027417
Pfam	PF02758
SMART	SM00368
SUPFAM	SSF47986 SSF52540
PROSITE	PS50824 PS50837

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
involved_in	GO:0006954	inflammatory response	PMID:28847925^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050718	positive regulation of interleukin-1 beta secretion	PMID:28847925^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0000139	Golgi membrane	PMID:23229815^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0071222	cellular response to lipopolysaccharide	PMID:28847925^[1]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051092	positive regulation of NF-kappaB transcription factor activity	PMID:15817483^[3]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9ULZ3	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8R4B8	C		Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8R4B8	F		Seeded From UniProt	complete
enables	GO:0008134	transcription factor binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8R4B8	F		Seeded From UniProt	complete
involved_in	GO:2000553	positive regulation of T-helper 2 cell cytokine production	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8R4B8	P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8R4B8	P		Seeded From UniProt	complete
involved_in	GO:0045630	positive regulation of T-helper 2 cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8R4B8	P		Seeded From UniProt	complete
involved_in	GO:0032753	positive regulation of interleukin-4 production	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8R4B8	P		Seeded From UniProt	complete
involved_in	GO:0002830	positive regulation of type 2 immune response	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8R4B8	P		Seeded From UniProt	complete
involved_in	GO:0071222	cellular response to lipopolysaccharide	PMID:12483741^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000576)	Seeded From UniProt	complete
involved_in	GO:0050728	negative regulation of inflammatory response	PMID:16531551^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050728	negative regulation of inflammatory response	PMID:12483741^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050728	negative regulation of inflammatory response	PMID:17178985^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050713	negative regulation of interleukin-1 beta secretion	PMID:12483741^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000576)	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:17164409^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0002674	negative regulation of acute inflammatory response	PMID:11687797^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050718	positive regulation of interleukin-1 beta secretion	PMID:15030775^[9]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	PMID:15030775^[9]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1901223	negative regulation of NIK/NF-kappaB signaling	PMID:14662828^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0032088	negative regulation of NF-kappaB transcription factor activity	PMID:14662828^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0072559	NLRP3 inflammasome complex	PMID:15030775^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0051092	positive regulation of NF-kappaB transcription factor activity	PMID:19158675^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007165	signal transduction	PMID:11786556^[12]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006954	inflammatory response	PMID:12093792^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006915	apoptotic process	PMID:12032915^[14]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1901223	negative regulation of NIK/NF-kappaB signaling	PMID:21873635^[15]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000648032 UniProtKB:Q96P20	P		Seeded From UniProt	complete
involved_in	GO:0050718	positive regulation of interleukin-1 beta secretion	PMID:21873635^[15]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2653833 PANTHER:PTN000648032 UniProtKB:Q96P20	P		Seeded From UniProt	complete
involved_in	GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	PMID:21873635^[15]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000648032 UniProtKB:Q96P20	P		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:24630722^[16]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q96P20	F		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:23582325^[17]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q96P20	F		Seeded From UniProt	complete
involved_in	GO:2000553	positive regulation of T-helper 2 cell cytokine production	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:2000321	positive regulation of T-helper 17 cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
part_of	GO:0072559	NLRP3 inflammasome complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	C		Seeded From UniProt	complete
involved_in	GO:0071224	cellular response to peptidoglycan	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0071222	cellular response to lipopolysaccharide	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0051607	defense response to virus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0050830	defense response to Gram-positive bacterium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0050727	regulation of inflammatory response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0050718	positive regulation of interleukin-1 beta secretion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0050701	interleukin-1 secretion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0045630	positive regulation of T-helper 2 cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0044546	NLRP3 inflammasome complex assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	F		Seeded From UniProt	complete
involved_in	GO:0032754	positive regulation of interleukin-5 production	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0032753	positive regulation of interleukin-4 production	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0032736	positive regulation of interleukin-13 production	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0032621	interleukin-18 production	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0032611	interleukin-1 beta production	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
enables	GO:0008134	transcription factor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	F		Seeded From UniProt	complete
involved_in	GO:0006954	inflammatory response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	C		Seeded From UniProt	complete
involved_in	GO:0002830	positive regulation of type 2 immune response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0002374	cytokine secretion involved in immune response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8R4B8 ensembl:ENSMUSP00000098707	P		Seeded From UniProt	complete
involved_in	GO:0051259	protein complex oligomerization	PMID:15967716^[18]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0042834	peptidoglycan binding	PMID:15967716^[18]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0009595	detection of biotic stimulus	PMID:15967716^[18]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006952	defense response	PMID:15967716^[18]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:15967716^[18]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0016579	protein deubiquitination	Reactome:R-HSA-5688426	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-9603905 Reactome:R-HSA-873951 Reactome:R-HSA-844612 Reactome:R-HSA-844610 Reactome:R-HSA-844440 Reactome:R-HSA-5691439 Reactome:R-HSA-1306876 Reactome:R-HSA-1296421	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0045087	innate immune response	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0399	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0333	C		Seeded From UniProt	complete
involved_in	GO:0002376	immune system process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0391	P		Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0256 UniProtKB-SubCell:SL-0095	C		Seeded From UniProt	complete
part_of	GO:0061702	inflammasome complex	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1271 UniProtKB-SubCell:SL-0488	C		Seeded From UniProt	complete
involved_in	GO:0006954	inflammatory response	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0395	P		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0964 UniProtKB-SubCell:SL-0243	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0091	C		Seeded From UniProt	complete
part_of	GO:0000139	Golgi membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0134	C		Seeded From UniProt	complete
edit table

Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 Nakanishi, H et al. (2017) mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. Proc. Natl. Acad. Sci. U.S.A. 114 E7766-E7775 PubMed GONUTS page
↑ Triantafilou, K et al. (2013) Human respiratory syncytial virus viroporin SH: a viral recognition pathway used by the host to signal inflammasome activation. Thorax 68 66-75 PubMed GONUTS page
↑ Kinoshita, T et al. (2005) PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion. J. Biol. Chem. 280 21720-5 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Aksentijevich, I et al. (2002) 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 3340-8 PubMed GONUTS page
↑ Rynne, M et al. (2006) Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. Ann. Rheum. Dis. 65 533-4 PubMed GONUTS page
↑ Leslie, KS et al. (2006) Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 142 1591-7 PubMed GONUTS page
↑ Kummer, JA et al. (2007) Inflammasome components NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response. J. Histochem. Cytochem. 55 443-52 PubMed GONUTS page
↑ Hoffman, HM 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. 29 301-5 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Agostini, L et al. (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20 319-25 PubMed GONUTS page
↑ ^10.0 ^10.1 O'Connor, W Jr et al. (2003) Cutting edge: CIAS1/cryopyrin/PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappa B suppressive properties. J. Immunol. 171 6329-33 PubMed GONUTS page
↑ Hornung, V et al. (2009) AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC. Nature 458 514-8 PubMed GONUTS page
↑ Manji, GA 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 11570-5 PubMed GONUTS page
↑ Fiorentino, L 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 35333-40 PubMed GONUTS page
↑ Feldmann, J 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. 71 198-203 PubMed GONUTS page
↑ ^15.0 ^15.1 ^15.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Lu, A et al. (2014) Unified polymerization mechanism for the assembly of ASC-dependent inflammasomes. Cell 156 1193-206 PubMed GONUTS page
↑ Subramanian, N et al. (2013) The adaptor MAVS promotes NLRP3 mitochondrial localization and inflammasome activation. Cell 153 348-61 PubMed GONUTS page
↑ ^18.0 ^18.1 ^18.2 ^18.3 ^18.4 Martinon, F & Tschopp, J (2005) NLRs join TLRs as innate sensors of pathogens. Trends Immunol. 26 447-54 PubMed GONUTS page

[PMID:28847925-1] 1.0 ^1.1 ^1.2 Nakanishi, H et al. (2017) mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. Proc. Natl. Acad. Sci. U.S.A. 114 E7766-E7775 PubMed GONUTS page

[PMID:23229815-2] Triantafilou, K et al. (2013) Human respiratory syncytial virus viroporin SH: a viral recognition pathway used by the host to signal inflammasome activation. Thorax 68 66-75 PubMed GONUTS page

[PMID:15817483-3] Kinoshita, T et al. (2005) PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion. J. Biol. Chem. 280 21720-5 PubMed GONUTS page

[PMID:12483741-4] 4.0 ^4.1 ^4.2 Aksentijevich, I et al. (2002) 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 3340-8 PubMed GONUTS page

[PMID:16531551-5] Rynne, M et al. (2006) Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. Ann. Rheum. Dis. 65 533-4 PubMed GONUTS page

[PMID:17178985-6] Leslie, KS et al. (2006) Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 142 1591-7 PubMed GONUTS page

[PMID:17164409-7] Kummer, JA et al. (2007) Inflammasome components NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response. J. Histochem. Cytochem. 55 443-52 PubMed GONUTS page

[PMID:11687797-8] Hoffman, HM 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. 29 301-5 PubMed GONUTS page

[PMID:15030775-9] 9.0 ^9.1 ^9.2 Agostini, L et al. (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20 319-25 PubMed GONUTS page

[PMID:14662828-10] 10.0 ^10.1 O'Connor, W Jr et al. (2003) Cutting edge: CIAS1/cryopyrin/PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappa B suppressive properties. J. Immunol. 171 6329-33 PubMed GONUTS page

[PMID:19158675-11] Hornung, V et al. (2009) AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC. Nature 458 514-8 PubMed GONUTS page

[PMID:11786556-12] Manji, GA 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 11570-5 PubMed GONUTS page

[PMID:12093792-13] Fiorentino, L 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 35333-40 PubMed GONUTS page

[PMID:12032915-14] Feldmann, J 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. 71 198-203 PubMed GONUTS page

[PMID:21873635-15] 15.0 ^15.1 ^15.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:24630722-16] Lu, A et al. (2014) Unified polymerization mechanism for the assembly of ASC-dependent inflammasomes. Cell 156 1193-206 PubMed GONUTS page

[PMID:23582325-17] Subramanian, N et al. (2013) The adaptor MAVS promotes NLRP3 mitochondrial localization and inflammasome activation. Cell 153 348-61 PubMed GONUTS page

[PMID:15967716-18] 18.0 ^18.1 ^18.2 ^18.3 ^18.4 Martinon, F & Tschopp, J (2005) NLRs join TLRs as innate sensors of pathogens. Trends Immunol. 26 447-54 PubMed GONUTS page

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

[14]

[15]

[16]

[17]

[18]

HUMAN:B7ZKS9

Contents

Annotations

Notes

References

a

c

d

e

g

h

i

m

n

o

p

r

s

t

v

Navigation menu

Personal tools

Namespaces

Variants

Views

More

Search

Navigation

Cacao

Links

Tools