Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q96P20 (NLRP3_HUMAN)

Entry version 209 (10 Feb 2021)
Sequence version 3 (03 Nov 2009)
Previous versions | rss
Add a publicationFeedback
Protein

NACHT, LRR and PYD domains-containing protein 3

Gene

NLRP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

As the sensor component of the NLRP3 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP3, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu (PubMed:28847925). Activation of NLRP3 inflammasome is also required for HMGB1 secretion (PubMed:22801494). The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. Under resting conditions, NLRP3 is autoinhibited. NLRP3 activation stimuli include extracellular ATP, reactive oxygen species, K+ efflux, crystals of monosodium urate or cholesterol, amyloid-beta fibers, environmental or industrial particles and nanoparticles, cytosolic dsRNA, etc. However, it is unclear what constitutes the direct NLRP3 activator. Activation in presence of cytosolic dsRNA is mediated by DHX33 (PubMed:23871209). Independently of inflammasome activation, regulates the differentiation of T helper 2 (Th2) cells and has a role in Th2 cell-dependent asthma and tumor growth (By similarity). During Th2 differentiation, required for optimal IRF4 binding to IL4 promoter and for IRF4-dependent IL4 transcription. Binds to the consensus DNA sequence 5'-GRRGGNRGAG-3'. May also participate in the transcription of IL5, IL13, GATA3, CCR3, CCR4 and MAF (By similarity).By similarity1 Publication3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi226 – 233ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator
Biological processImmunity, Inflammatory response, Innate immunity, Transcription, Transcription regulation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96P20

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5689901, Metalloprotease DUBs
R-HSA-844456, The NLRP3 inflammasome
R-HSA-9660826, Purinergic signaling in leishmaniasis infection

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q96P20

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
NACHT, LRR and PYD domains-containing protein 3
Alternative name(s):
Angiotensin/vasopressin receptor AII/AVP-like
Caterpiller protein 1.1
Short name:
CLR1.1
Cold-induced autoinflammatory syndrome 1 protein
Cryopyrin
PYRIN-containing APAF1-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NLRP3
Synonyms:C1orf7, CIAS1, NALP3, PYPAF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:16400, NLRP3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606416, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96P20

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000162711.16

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Inflammasome, Membrane, Nucleus, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Familial cold autoinflammatory syndrome 1 (FCAS1)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013227200V → M in FCAS1 and MWS. 4 PublicationsCorresponds to variant dbSNP:rs121908147EnsemblClinVar.1
Natural variantiVAR_014104262R → W in FCAS1 and MWS; spontaneous polymerization into inflammasome speck. 3 PublicationsCorresponds to variant dbSNP:rs121908150EnsemblClinVar.1
Natural variantiVAR_014124307L → P in FCAS1 and MWS. 2 PublicationsCorresponds to variant dbSNP:rs180177431EnsemblClinVar.1
Natural variantiVAR_043685355L → P in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs28937896EnsemblClinVar.1
Natural variantiVAR_013229441A → V in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs121908146EnsemblClinVar.1
Natural variantiVAR_043689490R → K in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs145268073EnsemblClinVar.1
Natural variantiVAR_031853525F → C in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs180177478Ensembl.1
Natural variantiVAR_013230629E → G in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs121908148Ensembl.1
Muckle-Wells syndrome (MWS)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013227200V → M in FCAS1 and MWS. 4 PublicationsCorresponds to variant dbSNP:rs121908147EnsemblClinVar.1
Natural variantiVAR_014104262R → W in FCAS1 and MWS; spontaneous polymerization into inflammasome speck. 3 PublicationsCorresponds to variant dbSNP:rs121908150EnsemblClinVar.1
Natural variantiVAR_014105305D → N in CINCA and MWS; spontaneous polymerization into inflammasome speck. 6 PublicationsCorresponds to variant dbSNP:rs121908153Ensembl.1
Natural variantiVAR_014124307L → P in FCAS1 and MWS. 2 PublicationsCorresponds to variant dbSNP:rs180177431EnsemblClinVar.1
Natural variantiVAR_014366350T → M in MWS and CINCA; spontaneous polymerization into inflammasome speck. 4 PublicationsCorresponds to variant dbSNP:rs151344629Ensembl.1
Natural variantiVAR_013228354A → V in MWS. 1 PublicationCorresponds to variant dbSNP:rs121908149EnsemblClinVar.1
Natural variantiVAR_014369441A → T in MWS. 1 PublicationCorresponds to variant dbSNP:rs180177430Ensembl.1
Natural variantiVAR_014107571G → R in MWS. 1 PublicationCorresponds to variant dbSNP:rs121908151EnsemblClinVar.1
Chronic infantile neurologic cutaneous and articular syndrome (CINCA)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionRare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043679174I → T in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177449Ensembl.1
Natural variantiVAR_043680262R → L in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177442EnsemblClinVar.1
Natural variantiVAR_043681262R → P in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177442EnsemblClinVar.1
Natural variantiVAR_043682266L → H in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177436Ensembl.1
Natural variantiVAR_043683305D → G in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177447Ensembl.1
Natural variantiVAR_014105305D → N in CINCA and MWS; spontaneous polymerization into inflammasome speck. 6 PublicationsCorresponds to variant dbSNP:rs121908153Ensembl.1
Natural variantiVAR_043684308Q → K in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177432Ensembl.1
Natural variantiVAR_014106311F → S in CINCA. 2 PublicationsCorresponds to variant dbSNP:rs121908154Ensembl.1
Natural variantiVAR_014366350T → M in MWS and CINCA; spontaneous polymerization into inflammasome speck. 4 PublicationsCorresponds to variant dbSNP:rs151344629Ensembl.1
Natural variantiVAR_043686356E → D in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177444Ensembl.1
Natural variantiVAR_014367360H → R in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177434Ensembl.1
Natural variantiVAR_043687407T → P in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177445EnsemblClinVar.1
Natural variantiVAR_043688438T → I in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177433EnsemblClinVar.1
Natural variantiVAR_014368438T → N in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177433EnsemblClinVar.1
Natural variantiVAR_043690525F → L in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177439Ensembl.1
Natural variantiVAR_043691572Y → C in CINCA. 2 PublicationsCorresponds to variant dbSNP:rs180177438Ensembl.1
Natural variantiVAR_014108575F → S in CINCA. 1 PublicationCorresponds to variant dbSNP:rs121908152Ensembl.1
Natural variantiVAR_043692634L → F in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177446Ensembl.1
Natural variantiVAR_014370664M → T in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177435Ensembl.1
Natural variantiVAR_023551861Y → C in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177452EnsemblClinVar.1
Keratoendothelitis fugax hereditaria (KEFH)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant corneal disease that periodically, and fleetingly, affects the corneal endothelium, stroma, and vision, eventually leading to central corneal stromal opacities in some patients. The disease is characterized by unilateral attacks of ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1-2 days but vision remains blurry for several weeks. The attacks start at the age of 3-12 years and can affect either eye. They generally decrease in frequency and get milder with age.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08049021D → H in KEFH. 1 PublicationCorresponds to variant dbSNP:rs200154873EnsemblClinVar.1
Deafness, autosomal dominant, 34, with or without inflammation (DFNA34)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA34 is a postlingual, slowly progressive form with variable severity and variable additional features. Some DFNA34 patients have autoinflammatory manifestations.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081008920R → Q in DFNA34; unknown pathological significance; increases inflammatory response. 1 PublicationCorresponds to variant dbSNP:rs1553293095EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi15E → R: Complete loss of PYCARD filament nucleation. 1 Publication1
Mutagenesisi22 – 23LK → PA: Loss of PYCARD-binding. No effect on GBP5-binding. 1 Publication2
Mutagenesisi23K → E: Complete loss of PYCARD filament nucleation; when associated with E-24. 1 Publication1
Mutagenesisi24K → E: Complete loss of PYCARD filament nucleation; when associated with E-23. 1 Publication1
Mutagenesisi27M → E: Complete loss of PYCARD filament nucleation. 1 Publication1
Mutagenesisi43R → W: Complete loss of PYCARD filament nucleation. 1 Publication1
Mutagenesisi64E → R: Complete loss of PYCARD filament nucleation. 1 Publication1
Mutagenesisi82D → R: Complete loss of PYCARD filament nucleation. 1 Publication1

Keywords - Diseasei

Amyloidosis, Deafness, Disease variant, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		114548

MalaCards human disease database

More...MalaCardsi		NLRP3
MIMi120100, phenotype
148200, phenotype
191900, phenotype
607115, phenotype
617772, phenotype

Open Targets

More...OpenTargetsi		ENSG00000162711

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		1451, CINCA syndrome
47045, Familial cold urticaria
575, Muckle-Wells syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26512

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96P20, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1741208

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		1770

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NLRP3

Domain mapping of disease mutations (DMDM)

More...DMDMi		262527566

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000808861 – 1036NACHT, LRR and PYD domains-containing protein 3Add BLAST1036

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi8 ↔ 108Redox-active1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The disulfide bond in the pyrin domain might play a role in reactive oxygen species-mediated activation.1 Publication
Ubiquitinated; undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination. Ubiquitination does not lead to degradation, but inhibits inflammasome activation (By similarity). Deubiquitination is catalyzed by BRCC3 and associated with NLRP3 activation and inflammasome assembly. This process can be induced by the activation of Toll-like receptors (by LPS), through a non-transcriptional pathway dependent on the mitochondrial production of reactive oxygen species, and by ATP.By similarity1 Publication

Keywords - PTMi

Disulfide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96P20

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96P20

PeptideAtlas

More...PeptideAtlasi		Q96P20

PRoteomics IDEntifications database

More...PRIDEi		Q96P20

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77599 [Q96P20-1]
77600 [Q96P20-2]
77601 [Q96P20-3]
77602 [Q96P20-4]
77603 [Q96P20-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96P20

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96P20

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Predominantly expressed in macrophages. Also expressed in dendritic cells, B- and T-cells (at protein level) (PubMed:11786556) (PubMed:17164409). Expressed in LPS-treated granulocytes, but not in resting cells (at protein level) (PubMed:17164409). Expression in monocytes is very weak (at protein level) (PubMed:17164409). Expressed in stratified non-keratinizing squamous epithelium, including oral, esophageal and ectocervical mucosa and in the Hassall's corpuscles in the thymus. Also, detected in the stratified epithelium covering the bladder and ureter (transitional mucosa) (at protein level) (PubMed:17164409). Expressed in lung epithelial cells (at protein level) (PubMed:23229815). Expressed in chondrocytes (PubMed:12032915). Expressed at low levels in resting osteoblasts (PubMed:17907925).5 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By activators of Toll-like receptors, such as lipoteichoic acid (LTA) (TLR2), polyinosine-polycytidylic acid (poly(I:C), a synthetic analog of dsRNA) (TLR3) and bacterial lipopolysaccharides (LPS) (TLR4), and by TNF (PubMed:14662828). Up-regulated in osteoblasts after exposure to invasive, but not invasion-defective, strains of Salmonella typhimurium (at protein level) (PubMed:17907925). In macrophages, up-regulated by endocannabinoid anandamide/AEA (PubMed:23955712).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000162711, Expressed in bone marrow and 127 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96P20, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96P20, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000162711, Group enriched (blood, bone marrow)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Sensor component of NLRP3 inflammasomes. Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation. The core of NLRP3 inflammasomes consists of a signal sensor component (NLRP3), an adapter (ASC/PYCARD), which recruits an effector proinflammatory caspase (CASP1 and, possibly, CASP4 and CASP5). Within the complex, NLRP3 and PYCARD interact via their respective DAPIN/pyrin domains. This interaction initiates speck formation (nucleation) which greatly enhances further addition of soluble PYCARD molecules to the speck in a prion-like polymerization process (PubMed:24630722). NLRP3 localizes at the end of each PYCARD filament (PubMed:24630722). Clustered PYCARD nucleates the formation of CASP1 filaments through the interaction of their respective CARD domains, acting as a platform for CASP1 polymerization (PubMed:24630722). CASP1 filament formation increases local enzyme concentration, resulting in trans-autocleavage and activation. Active CASP1 then processes IL1B and IL18 precursors, leading to the release of mature cytokines in the extracellular milieu and inflammatory response. Reconstituted ternary inflammasomes show star-shaped structures, in which multiple filaments, containing CASP1, protrude radially from a single central hub, containing the sensor protein and PYCARD (PubMed:24630722). In this complex, the sensor protein is sub-stoichiometric to PYCARD, and PYCARD is further substoichiometric to CASP1, suggesting amplifications of signal transduction from the sensor, via the adapter, to the effector (PubMed:24630722).

Interacts with MEFV; this interaction targets NLRP3 to degradation by autophagy, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:17431422) (PubMed:26347139).

Interacts with GBP5 (via DAPIN domain); this interaction promotes inflammasome assembly in response to microbial and soluble, but not crystalline, agents (PubMed:22461501).

Interacts with EIF2AK2/PKR; this interaction requires EIF2AK2 activity, is accompanied by EIF2AK2 autophosphorylation and promotes inflammasome assembly in response to specific stimuli (PubMed:22801494).

Interacts with PML (isoform PML-1) (via the leucine-rich repeat (LRR) domain); PML-mediated increase in NLRP3 inflammasome activation does not depend upon this interaction (PubMed:23430110). Directly interacts with IRF4 (via the LRR domain); this interaction is required for optimal IRF4 binding to IL4 promoter and efficient IL4 transactivation during differentiation of Th2 helper T-cells (By similarity).

Interacts (via NACHT domain) with DHX33 (via DEAH box) (PubMed:23871209).

Interacts with PYDC5 (PubMed:24531343).

Interacts (via NACHT domain) with DDX3X under both LPS-primed and inflammasome-activating conditions (By similarity)

Interacts (via NACHT and LRR domains) with ARRB2; this interaction is direct and inducible by polyunsaturated fatty acids (PUFAs).

By similarity2 Publications12 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125319, 68 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-4141, NLRP3 inflammasome

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96P20

Database of interacting proteins

More...DIPi		DIP-41153N

Protein interaction database and analysis system

More...IntActi		Q96P20, 46 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000337383

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q96P20

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96P20, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11036
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96P20

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 93PyrinPROSITE-ProRule annotationAdd BLAST93
Domaini220 – 536NACHTPROSITE-ProRule annotationAdd BLAST317
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati742 – 762LRR 1Add BLAST21
Repeati771 – 792LRR 2Add BLAST22
Repeati799 – 819LRR 3Add BLAST21
Repeati828 – 849LRR 4Add BLAST22
Repeati856 – 876LRR 5Add BLAST21
Repeati885 – 906LRR 6Add BLAST22
Repeati913 – 933LRR 7Add BLAST21
Repeati942 – 963LRR 8Add BLAST22
Repeati970 – 991LRR 9Add BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi690 – 697Poly-Glu8

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The pyrin domain (also called DAPIN domain or PYD) is involved in PYCARD-binding.1 Publication
The LRR domain mediates the interaction with IRF4 and PML.By similarity1 Publication
Intramolecular interactions between NACHT and leucine-rich repeat (LRR) domains may be important for autoinhibition in the absence of activating signal.By similarity1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NLRP family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502SBIG, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162415

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002274_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96P20

Identification of Orthologs from Complete Genome Data

More...OMAi		FHCIEDR

Database of Orthologous Groups

More...OrthoDBi		27621at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96P20

TreeFam database of animal gene trees

More...TreeFami		TF340267

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004020, DAPIN
IPR011029, DEATH-like_dom_sf
IPR001611, Leu-rich_rpt
IPR032675, LRR_dom_sf
IPR029495, NACHT-assoc
IPR007111, NACHT_NTPase
IPR041267, NLRP_HD2
IPR041075, NOD2_WH
IPR027417, P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14484, FISNA, 1 hit
PF13516, LRR_6, 4 hits
PF05729, NACHT, 1 hit
PF17776, NLRC4_HD2, 1 hit
PF17779, NOD2_WH, 1 hit
PF02758, PYRIN, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01288, FISNA, 1 hit
SM01289, PYRIN, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47986, SSF47986, 1 hit
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50824, DAPIN, 1 hit
PS50837, NACHT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 2 (identifier: Q96P20-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKMASTRCKL ARYLEDLEDV DLKKFKMHLE DYPPQKGCIP LPRGQTEKAD 
        60         70         80         90        100
HVDLATLMID FNGEEKAWAM AVWIFAAINR RDLYEKAKRD EPKWGSDNAR 
       110        120        130        140        150
VSNPTVICQE DSIEEEWMGL LEYLSRISIC KMKKDYRKKY RKYVRSRFQC 
       160        170        180        190        200
IEDRNARLGE SVSLNKRYTR LRLIKEHRSQ QEREQELLAI GKTKTCESPV 
       210        220        230        240        250
SPIKMELLFD PDDEHSEPVH TVVFQGAAGI GKTILARKMM LDWASGTLYQ 
       260        270        280        290        300
DRFDYLFYIH CREVSLVTQR SLGDLIMSCC PDPNPPIHKI VRKPSRILFL 
       310        320        330        340        350
MDGFDELQGA FDEHIGPLCT DWQKAERGDI LLSSLIRKKL LPEASLLITT 
       360        370        380        390        400
RPVALEKLQH LLDHPRHVEI LGFSEAKRKE YFFKYFSDEA QARAAFSLIQ 
       410        420        430        440        450
ENEVLFTMCF IPLVCWIVCT GLKQQMESGK SLAQTSKTTT AVYVFFLSSL 
       460        470        480        490        500
LQPRGGSQEH GLCAHLWGLC SLAADGIWNQ KILFEESDLR NHGLQKADVS 
       510        520        530        540        550
AFLRMNLFQK EVDCEKFYSF IHMTFQEFFA AMYYLLEEEK EGRTNVPGSR 
       560        570        580        590        600
LKLPSRDVTV LLENYGKFEK GYLIFVVRFL FGLVNQERTS YLEKKLSCKI 
       610        620        630        640        650
SQQIRLELLK WIEVKAKAKK LQIQPSQLEL FYCLYEMQEE DFVQRAMDYF 
       660        670        680        690        700
PKIEINLSTR MDHMVSSFCI ENCHRVESLS LGFLHNMPKE EEEEEKEGRH 
       710        720        730        740        750
LDMVQCVLPS SSHAACSHGL VNSHLTSSFC RGLFSVLSTS QSLTELDLSD 
       760        770        780        790        800
NSLGDPGMRV LCETLQHPGC NIRRLWLGRC GLSHECCFDI SLVLSSNQKL 
       810        820        830        840        850
VELDLSDNAL GDFGIRLLCV GLKHLLCNLK KLWLVSCCLT SACCQDLASV 
       860        870        880        890        900
LSTSHSLTRL YVGENALGDS GVAILCEKAK NPQCNLQKLG LVNSGLTSVC 
       910        920        930        940        950
CSALSSVLST NQNLTHLYLR GNTLGDKGIK LLCEGLLHPD CKLQVLELDN 
       960        970        980        990       1000
CNLTSHCCWD LSTLLTSSQS LRKLSLGNND LGDLGVMMFC EVLKQQSCLL 
      1010       1020       1030 
QNLGLSEMYF NYETKSALET LQEEKPELTV VFEPSW
Length:1,036
Mass (Da):118,173
Last modified:November 3, 2009 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4C1DFB2B5B283CE8
GO
Isoform 1 (identifier: Q96P20-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     721-777: Missing.
     836-892: Missing.

Show »
Length:922
Mass (Da):105,975
Checksum:i8680FA0F4259B6F8
GO
Isoform 3 (identifier: Q96P20-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     720-1036: Missing.

Show »
Length:719
Mass (Da):83,533
Checksum:i0BF2090304B74886
GO
Isoform 4 (identifier: Q96P20-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     721-777: Missing.

Show »
Length:979
Mass (Da):111,884
Checksum:iDB355ECE3BF0A226
GO
Isoform 5 (identifier: Q96P20-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     836-892: Missing.

Show »
Length:979
Mass (Da):112,263
Checksum:i8E46F79B1A816B5E
GO
Isoform 6 (identifier: Q96P20-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     776-796: WLGRCGLSHECCFDISLVLSS → C

Show »
Length:1,016
Mass (Da):115,968
Checksum:iCE6980B309C3322D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YEG7A0A2R8YEG7_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP3
672Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC39910 differs from that shown. Reason: Frameshift.Curated
The sequence AAL12497 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAL12498 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAL33908 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAL65136 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAD92128 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAG37494 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti167R → L in AAL78632 (PubMed:12355493).Curated1
Sequence conflicti167R → L in AAM14669 (PubMed:12355493).Curated1
Sequence conflicti167R → L in AAL14640 (PubMed:12355493).Curated1
Sequence conflicti323Q → H in AAL78632 (PubMed:12355493).Curated1
Sequence conflicti323Q → H in AAM14669 (PubMed:12355493).Curated1
Sequence conflicti323Q → H in AAL14640 (PubMed:12355493).Curated1
Sequence conflicti439T → S in AAC39910 (PubMed:11042152).Curated1
Sequence conflicti523M → V in BAG37494 (Ref. 5) Curated1
Sequence conflicti599K → M in AAC39910 (PubMed:11042152).Curated1
Sequence conflicti617K → N in AAL78632 (PubMed:12355493).Curated1
Sequence conflicti617K → N in AAM14669 (PubMed:12355493).Curated1
Sequence conflicti617K → N in AAL14640 (PubMed:12355493).Curated1
Sequence conflicti622 – 623QI → HD in AAC39910 (PubMed:11042152).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08049021D → H in KEFH. 1 PublicationCorresponds to variant dbSNP:rs200154873EnsemblClinVar.1
Natural variantiVAR_043679174I → T in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177449Ensembl.1
Natural variantiVAR_013227200V → M in FCAS1 and MWS. 4 PublicationsCorresponds to variant dbSNP:rs121908147EnsemblClinVar.1
Natural variantiVAR_043680262R → L in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177442EnsemblClinVar.1
Natural variantiVAR_043681262R → P in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177442EnsemblClinVar.1
Natural variantiVAR_014104262R → W in FCAS1 and MWS; spontaneous polymerization into inflammasome speck. 3 PublicationsCorresponds to variant dbSNP:rs121908150EnsemblClinVar.1
Natural variantiVAR_043682266L → H in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177436Ensembl.1
Natural variantiVAR_043683305D → G in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177447Ensembl.1
Natural variantiVAR_014105305D → N in CINCA and MWS; spontaneous polymerization into inflammasome speck. 6 PublicationsCorresponds to variant dbSNP:rs121908153Ensembl.1
Natural variantiVAR_014124307L → P in FCAS1 and MWS. 2 PublicationsCorresponds to variant dbSNP:rs180177431EnsemblClinVar.1
Natural variantiVAR_043684308Q → K in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177432Ensembl.1
Natural variantiVAR_014106311F → S in CINCA. 2 PublicationsCorresponds to variant dbSNP:rs121908154Ensembl.1
Natural variantiVAR_014366350T → M in MWS and CINCA; spontaneous polymerization into inflammasome speck. 4 PublicationsCorresponds to variant dbSNP:rs151344629Ensembl.1
Natural variantiVAR_013228354A → V in MWS. 1 PublicationCorresponds to variant dbSNP:rs121908149EnsemblClinVar.1
Natural variantiVAR_043685355L → P in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs28937896EnsemblClinVar.1
Natural variantiVAR_043686356E → D in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177444Ensembl.1
Natural variantiVAR_014367360H → R in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177434Ensembl.1
Natural variantiVAR_043687407T → P in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177445EnsemblClinVar.1
Natural variantiVAR_043688438T → I in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177433EnsemblClinVar.1
Natural variantiVAR_014368438T → N in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177433EnsemblClinVar.1
Natural variantiVAR_014369441A → T in MWS. 1 PublicationCorresponds to variant dbSNP:rs180177430Ensembl.1
Natural variantiVAR_013229441A → V in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs121908146EnsemblClinVar.1
Natural variantiVAR_043689490R → K in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs145268073EnsemblClinVar.1
Natural variantiVAR_031853525F → C in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs180177478Ensembl.1
Natural variantiVAR_043690525F → L in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177439Ensembl.1
Natural variantiVAR_014107571G → R in MWS. 1 PublicationCorresponds to variant dbSNP:rs121908151EnsemblClinVar.1
Natural variantiVAR_043691572Y → C in CINCA. 2 PublicationsCorresponds to variant dbSNP:rs180177438Ensembl.1
Natural variantiVAR_014108575F → S in CINCA. 1 PublicationCorresponds to variant dbSNP:rs121908152Ensembl.1
Natural variantiVAR_013230629E → G in FCAS1. 1 PublicationCorresponds to variant dbSNP:rs121908148Ensembl.1
Natural variantiVAR_043692634L → F in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177446Ensembl.1
Natural variantiVAR_014370664M → T in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177435Ensembl.1
Natural variantiVAR_043693705Q → K1 PublicationCorresponds to variant dbSNP:rs35829419Ensembl.1
Natural variantiVAR_023551861Y → C in CINCA. 1 PublicationCorresponds to variant dbSNP:rs180177452EnsemblClinVar.1
Natural variantiVAR_081008920R → Q in DFNA34; unknown pathological significance; increases inflammatory response. 1 PublicationCorresponds to variant dbSNP:rs1553293095EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_005519720 – 1036Missing in isoform 3. 1 PublicationAdd BLAST317
Alternative sequenceiVSP_005520721 – 777Missing in isoform 1 and isoform 4. 6 PublicationsAdd BLAST57
Alternative sequenceiVSP_053714776 – 796WLGRC…LVLSS → C in isoform 6. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_005521836 – 892Missing in isoform 1 and isoform 5. 6 PublicationsAdd BLAST57

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF410477 mRNA Translation: AAL33908.1 Different initiation.
AF427617 mRNA Translation: AAL33911.1
AY051117 AY056060 Genomic DNA Translation: AAL12497.1 Different initiation.
AY051117 AY051116 Genomic DNA Translation: AAL12498.1 Different initiation.
AF468522 mRNA Translation: AAL78632.1
AF420469 mRNA Translation: AAL65136.1 Different initiation.
AY092033 mRNA Translation: AAM14669.1
AF418985 mRNA Translation: AAL14640.2
AK314998 mRNA Translation: BAG37494.1 Different initiation.
AB208891 mRNA Translation: BAD92128.1 Different initiation.
AC104335 Genomic DNA No translation available.
AL606804 Genomic DNA No translation available.
CH471148 Genomic DNA Translation: EAW77184.1
CH471148 Genomic DNA Translation: EAW77186.1
BC117211 mRNA Translation: AAI17212.1
BC143359 mRNA Translation: AAI43360.1
BC143362 mRNA Translation: AAI43363.1
BC143363 mRNA Translation: AAI43364.1
AY422168 mRNA Translation: AAQ98889.1
AF054176 mRNA Translation: AAC39910.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1632.1 [Q96P20-1]

NCBI Reference Sequences

More...RefSeqi		NP_001073289.1, NM_001079821.2
NP_001120933.1, NM_001127461.2
NP_001120934.1, NM_001127462.2
NP_001230062.1, NM_001243133.1
NP_004886.3, NM_004895.4 [Q96P20-1]
NP_899632.1, NM_183395.2
XP_011542350.1, XM_011544048.2 [Q96P20-1]
XP_016855670.1, XM_017000181.1 [Q96P20-1]
XP_016855671.1, XM_017000182.1 [Q96P20-1]
XP_016855672.1, XM_017000183.1
XP_016855673.1, XM_017000184.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000366497; ENSP00000355453; ENSG00000162711 [Q96P20-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		114548

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:114548

UCSC genome browser

More...UCSCi		uc001icr.4, human [Q96P20-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

INFEVERS

Repertory of FMF and hereditary autoinflammatory disorders mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF410477 mRNA Translation: AAL33908.1 Different initiation.
AF427617 mRNA Translation: AAL33911.1
AY051117 AY056060 Genomic DNA Translation: AAL12497.1 Different initiation.
AY051117 AY051116 Genomic DNA Translation: AAL12498.1 Different initiation.
AF468522 mRNA Translation: AAL78632.1
AF420469 mRNA Translation: AAL65136.1 Different initiation.
AY092033 mRNA Translation: AAM14669.1
AF418985 mRNA Translation: AAL14640.2
AK314998 mRNA Translation: BAG37494.1 Different initiation.
AB208891 mRNA Translation: BAD92128.1 Different initiation.
AC104335 Genomic DNA No translation available.
AL606804 Genomic DNA No translation available.
CH471148 Genomic DNA Translation: EAW77184.1
CH471148 Genomic DNA Translation: EAW77186.1
BC117211 mRNA Translation: AAI17212.1
BC143359 mRNA Translation: AAI43360.1
BC143362 mRNA Translation: AAI43363.1
BC143363 mRNA Translation: AAI43364.1
AY422168 mRNA Translation: AAQ98889.1
AF054176 mRNA Translation: AAC39910.1 Frameshift.
CCDSiCCDS1632.1 [Q96P20-1]
RefSeqiNP_001073289.1, NM_001079821.2
NP_001120933.1, NM_001127461.2
NP_001120934.1, NM_001127462.2
NP_001230062.1, NM_001243133.1
NP_004886.3, NM_004895.4 [Q96P20-1]
NP_899632.1, NM_183395.2
XP_011542350.1, XM_011544048.2 [Q96P20-1]
XP_016855670.1, XM_017000181.1 [Q96P20-1]
XP_016855671.1, XM_017000182.1 [Q96P20-1]
XP_016855672.1, XM_017000183.1
XP_016855673.1, XM_017000184.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2NAQNMR-A3-93[»]
3QF2X-ray1.70A/B3-112[»]
6NPYelectron microscopy3.80A3-1036[»]
SMRiQ96P20
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi125319, 68 interactors
ComplexPortaliCPX-4141, NLRP3 inflammasome
CORUMiQ96P20
DIPiDIP-41153N
IntActiQ96P20, 46 interactors
STRINGi9606.ENSP00000337383

Chemistry databases

BindingDBiQ96P20
ChEMBLiCHEMBL1741208
GuidetoPHARMACOLOGYi1770

PTM databases

iPTMnetiQ96P20
PhosphoSitePlusiQ96P20

Genetic variation databases

BioMutaiNLRP3
DMDMi262527566

Proteomic databases

EPDiQ96P20
PaxDbiQ96P20
PeptideAtlasiQ96P20
PRIDEiQ96P20
ProteomicsDBi77599 [Q96P20-1]
77600 [Q96P20-2]
77601 [Q96P20-3]
77602 [Q96P20-4]
77603 [Q96P20-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		624, 769 antibodies

Genome annotation databases

EnsembliENST00000366497; ENSP00000355453; ENSG00000162711 [Q96P20-5]
GeneIDi114548
KEGGihsa:114548
UCSCiuc001icr.4, human [Q96P20-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		114548
DisGeNETi114548

GeneCards: human genes, protein and diseases

More...GeneCardsi		NLRP3
HGNCiHGNC:16400, NLRP3
HPAiENSG00000162711, Group enriched (blood, bone marrow)
MalaCardsiNLRP3
MIMi120100, phenotype
148200, phenotype
191900, phenotype
606416, gene
607115, phenotype
617772, phenotype
neXtProtiNX_Q96P20
OpenTargetsiENSG00000162711
Orphaneti1451, CINCA syndrome
47045, Familial cold urticaria
575, Muckle-Wells syndrome
PharmGKBiPA26512
VEuPathDBiHostDB:ENSG00000162711.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502SBIG, Eukaryota
GeneTreeiENSGT00940000162415
HOGENOMiCLU_002274_2_0_1
InParanoidiQ96P20
OMAiFHCIEDR
OrthoDBi27621at2759
PhylomeDBiQ96P20
TreeFamiTF340267

Enzyme and pathway databases

PathwayCommonsiQ96P20
ReactomeiR-HSA-5689901, Metalloprotease DUBs
R-HSA-844456, The NLRP3 inflammasome
R-HSA-9660826, Purinergic signaling in leishmaniasis infection
SIGNORiQ96P20

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		114548, 3 hits in 873 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NLRP3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NALP3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		114548
PharosiQ96P20, Tchem

Protein Ontology

More...PROi		PR:Q96P20
RNActiQ96P20, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000162711, Expressed in bone marrow and 127 other tissues
ExpressionAtlasiQ96P20, baseline and differential
GenevisibleiQ96P20, HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR004020, DAPIN
IPR011029, DEATH-like_dom_sf
IPR001611, Leu-rich_rpt
IPR032675, LRR_dom_sf
IPR029495, NACHT-assoc
IPR007111, NACHT_NTPase
IPR041267, NLRP_HD2
IPR041075, NOD2_WH
IPR027417, P-loop_NTPase
PfamiView protein in Pfam
PF14484, FISNA, 1 hit
PF13516, LRR_6, 4 hits
PF05729, NACHT, 1 hit
PF17776, NLRC4_HD2, 1 hit
PF17779, NOD2_WH, 1 hit
PF02758, PYRIN, 1 hit
SMARTiView protein in SMART
SM01288, FISNA, 1 hit
SM01289, PYRIN, 1 hit
SUPFAMiSSF47986, SSF47986, 1 hit
SSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50824, DAPIN, 1 hit
PS50837, NACHT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNLRP3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96P20
Secondary accession number(s): A0A024R5Q0
, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: November 3, 2009
Last modified: February 10, 2021
This is version 209 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again