InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NLRP3

Summary

InnateDB Protein

IDBP-107916.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NLRP3

Protein Name

NLR family, pyrin domain containing 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000337383

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}.

Comments

Interactions

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
DNA-DNA	0
RNA-RNA	1 [view]
DNA-RNA	0

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:0006919	activation of cysteine-type endopeptidase activity involved in 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:0032611	interleukin-1 beta production
GO:0032621	interleukin-18 production
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:0044546	NLRP3 inflammasome complex assembly
GO:0045087	innate immune response (InnateDB)
GO:0050701	interleukin-1 secretion
GO:0050713	negative regulation of interleukin-1 beta secretion
GO:0050718	positive regulation of interleukin-1 beta secretion
GO:0050727	regulation of inflammatory response
GO:0050728	negative regulation of inflammatory response
GO:0051092	positive regulation of NF-kappaB transcription factor activity
GO:0051259	protein oligomerization
GO:0051607	defense response to virus
GO:0071222	cellular response to lipopolysaccharide

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0072559	NLRP3 inflammasome complex

Protein Structure and Domains

PDB ID

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

PRINTS

PIRSF

SMART

SM00368

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96P20