Homo sapiens Protein: NLRP3
InnateDB Protein IDBP-107922.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NLRP3
Protein Name NLR family, pyrin domain containing 3
Species Homo sapiens
Ensembl Protein ENSP00000294752
InnateDB Gene IDBG-107914 (NLRP3)
Protein Structure
UniProt Annotation
Function May function as an inducer of apoptosis. Interacts selectively with ASC and this complex may function as an upstream activator of NF-kappa-B signaling. Inhibits TNF-alpha induced activation and nuclear translocation of RELA/NF-KB p65. Also inhibits transcriptional activity of RELA. Activates caspase-1 in response to a number of triggers including bacterial or viral infection which leads to processing and release of IL1B and IL18. {ECO:0000269PubMed:11786556, ECO:0000269PubMed:14662828}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:11786556, ECO:0000269PubMed:14662828, ECO:0000269PubMed:17164409}.
Disease Associations Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis. {ECO:0000269PubMed:11687797, ECO:0000269PubMed:11992256, ECO:0000269PubMed:12355493, ECO:0000269PubMed:12522564, ECO:0000269PubMed:15593220, ECO:0000269PubMed:17284928}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muckle-Wells syndrome (MWS) [MIM:191900]: A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs. {ECO:0000269PubMed:11687797, ECO:0000269PubMed:11992256, ECO:0000269PubMed:12355493, ECO:0000269PubMed:15593220}. Note=The disease is caused by mutations affecting the gene represented in this entry.Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]: Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. {ECO:0000269PubMed:12032915, ECO:0000269PubMed:12483741, ECO:0000269PubMed:14630794, ECO:0000269PubMed:15231984, ECO:0000269PubMed:15334500, ECO:0000269PubMed:15593220}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in blood leukocytes. Strongly expressed in polymorphonuclear cells and osteoblasts. Undetectable or expressed at a lower magnitude in B- and T-lymphoblasts, respectively. High level of expression detected in chondrocytes. Detected in non-keratinizing epithelia of oropharynx, esophagus and ectocervix and in the urothelial layer of the bladder. {ECO:0000269PubMed:11786556, ECO:0000269PubMed:12032915, ECO:0000269PubMed:17164409, ECO:0000269PubMed:17907925}.
Number of Interactions This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 34 [view]
Protein-Protein 30 [view]
Protein-DNA 3 [view]
Protein-RNA 0
RNA-RNA 1 [view]
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0042834 peptidoglycan binding
Biological Process
GO:0002674 negative regulation of acute inflammatory response
GO:0006915 apoptotic process
GO:0006952 defense response
GO:0006954 inflammatory response
GO:0007165 signal transduction
GO:0009595 detection of biotic stimulus
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
GO:0042347 negative regulation of NF-kappaB import into nucleus
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045087 innate immune response (InnateDB)
GO:0050713 negative regulation of interleukin-1 beta secretion
GO:0050718 positive regulation of interleukin-1 beta secretion
GO:0050728 negative regulation of inflammatory response
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051259 protein oligomerization
GO:0071222 cellular response to lipopolysaccharide
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0072559 NLRP3 inflammasome complex
Protein Structure and Domains
InterPro IPR003590 Leucine-rich repeat, ribonuclease inhibitor subtype
IPR004020 DAPIN domain
IPR007111 NACHT nucleoside triphosphatase
IPR011029 Death-like domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF02758
Post-translational Modifications
SwissProt Q96P20
PhosphoSite PhosphoSite-Q96P20
UniProt Splice Variant
Entrez Gene 114548
UniGene Hs.159483
RefSeq NP_899632
OMIM 606416
HPRD 05915
EMBL AB120959 AB120960 AB120961 AB120962 AB208891 AC104335 AF054176 AF410477 AF418985 AF420469 AF427617 AF468522 AK314998 AL606804 AY051112 AY051113 AY051114 AY051115 AY051116 AY051117 AY056059 AY056060 AY092033 AY422168 BC117211 BC143359 BC143362 BC143363 CH471148
GenPept AAC39910 AAI17212 AAI43360 AAI43363 AAI43364 AAL12497 AAL12498 AAL14640 AAL33908 AAL33911 AAL65136 AAL78632 AAM14669 AAQ98889 BAD51451 BAD51452 BAD51453 BAD51454 BAD92128 BAG37494 CAI17153 CAI17154 CAI17155 EAW77184