NLRP3 Gene (Protein Coding)

NLR Family Pyrin Domain Containing 3

GC01P247415
GIFtS:
48
This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-k... See more...

Aliases for NLRP3 Gene

Aliases for NLRP3 Gene

  • NLR Family Pyrin Domain Containing 3 2 3 5
  • Cryopyrin 2 3 4
  • CLR1.1 2 3 4
  • PYPAF1 2 3 4
  • NALP3 2 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 3 2 3
  • Cold-Induced Autoinflammatory Syndrome 1 Protein 3 4
  • NACHT, LRR And PYD Domains-Containing Protein 3 3 4
  • PYRIN-Containing APAF1-Like Protein 1 3 4
  • Deafness, Autosomal Dominant 34 2 3
  • Caterpiller Protein 1.1 3 4
  • AGTAVPRL 2 3
  • C1orf7 3 4
  • CIAS1 3 4
  • FCAS 2 3
  • AII 2 3
  • AVP 2 3
  • FCU 2 3
  • MWS 2 3
  • NACHT Domain-, Leucine-Rich Repeat-, And PYD-Containing Protein 3 3
  • Cryopyrin, NACHT, LRR And PYD Domains - Containing Protein 3 3
  • Angiotensin/Vasopressin Receptor AII/AVP-Like 4
  • Cold Autoinflammatory Syndrome 1 Protein 3
  • NACHT, LRR And PYD Containing Protein 3 3
  • Cold Autoinflammatory Syndrome 1 2
  • DFNA34 3
  • FCAS1 3
  • NLRP3 5
  • KEFH 3

External Ids for NLRP3 Gene

Previous HGNC Symbols for NLRP3 Gene

  • C1orf7
  • CIAS1
  • DFNA34

Previous GeneCards Identifiers for NLRP3 Gene

  • GC01P245648
  • GC01P247579
  • GC01P217973

Summaries for NLRP3 Gene

Entrez Gene Summary for NLRP3 Gene

  • This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]

GeneCards Summary for NLRP3 Gene

NLRP3 (NLR Family Pyrin Domain Containing 3) is a Protein Coding gene. Diseases associated with NLRP3 include Cinca Syndrome and Muckle-Wells Syndrome. Among its related pathways are Metalloprotease DUBs and Yersinia infection. Gene Ontology (GO) annotations related to this gene include peptidoglycan binding. An important paralog of this gene is NLRP12.

UniProtKB/Swiss-Prot Summary for NLRP3 Gene

  • 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).

Gene Wiki entry for NLRP3 Gene

Additional gene information for NLRP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NLRP3 Gene

Genomics for NLRP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NLRP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J247415 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 250.7 +1.5 1484 5.1 GABPA TEAD3 EBF1 SPI1 POLR2A IKZF1 ZNF217 CEBPB ZNF687 IKZF2 NLRP3 OR2B11 ZNF496 HSALNG0012260 MK280269-007
GH01J247389 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 41.2 -25.6 -25568 1.7 BCLAF1 ZNF207 SSRP1 BCL11A CTCF REST ZNF592 DEK TARDBP TRIM22 LOC107985375 NLRP3 AHCTF1 ENSG00000287116 HSALNG0012259 HSALNG0012256 ZNF496 MK280269-007
GH01J247406 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 37.2 -8.4 -8410 2.4 BCLAF1 POLR2A NFIC BCL11A MNT IRF4 EBF1 CBFB BHLHE40 SPI1 NLRP3 AHCTF1 HSALNG0012259 ZNF496 MK280269-007
GH01J247401 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 43.8 -14.2 -14155 2.8 MAFK IKZF1 TCF12 CEBPB RAD21 FOS CTCF DPF2 ARNT GATAD2B HSALNG0012259 NLRP3 OR2B11 OR2C3 ZNF496 OR2G3 AHCTF1 LOC107985375 MK280269-007
GH01J247409 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 36.8 -6.0 -5984 1.1 BCLAF1 SP1 ZNF207 BCL11A ZNF592 TRIM22 NR2C1 IRF4 EZH2 EBF1 NLRP3 HSALNG0012259 ZNF496 MK280269-007
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLRP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NLRP3

Top Transcription factor binding sites by QIAGEN in the NLRP3 gene promoter:
  • AP-1
  • deltaCREB

Genomic Locations for NLRP3 Gene

Latest Assembly
chr1:247,416,156-247,449,108
(GRCh38/hg38)
Size:
32,953 bases
Orientation:
Plus strand

Previous Assembly
chr1:247,579,475-247,612,119
(GRCh37/hg19 by Entrez Gene)
Size:
32,645 bases
Orientation:
Plus strand

chr1:247,579,458-247,612,410
(GRCh37/hg19 by Ensembl)
Size:
32,953 bases
Orientation:
Plus strand

Genomic View for NLRP3 Gene

Genes around NLRP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NLRP3 Gene

Proteins for NLRP3 Gene

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  • Protein details for NLRP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96P20-NLRP3_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 3
    Protein Accession:
    Q96P20
    Secondary Accessions:
    • A0A024R5Q0
    • B2RC97
    • B7ZKS9
    • B7ZKT2
    • B7ZKT3
    • O75434
    • Q17RS2
    • Q59H68
    • Q5JQS8
    • Q5JQS9
    • Q6TG35
    • Q8TCW0
    • Q8TEU9
    • Q8WXH9

    Protein attributes for NLRP3 Gene

    Size:
    1036 amino acids
    Molecular mass:
    118173 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAC39910.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAL12497.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAL12498.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAL33908.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAL65136.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD92128.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG37494.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NLRP3 Gene

    Alternative splice isoforms for NLRP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRP3 Gene

Protein Expression for NLRP3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NLRP3 Gene

  • The disulfide bond in the pyrin domain might play a role in reactive oxygen species-mediated activation.
  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NLRP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for NLRP3

No data available for DME Specific Peptides for NLRP3 Gene

Domains & Families for NLRP3 Gene

Gene Families for NLRP3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NLRP3 Gene

InterPro:
Blocks:
  • Leucine-rich repeat, ribonuclease inhibitor subtype
  • Pyrin domain

Suggested Antigen Peptide Sequences for NLRP3 Gene

GenScript: Design optimal peptide antigens:
  • NLRP3 protein (B7ZKS9_HUMAN)
  • PYRIN-containing APAF1-like protein 1 (NALP3_HUMAN)
  • AII/AVP receptor-like (Q65Z67_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96P20

UniProtKB/Swiss-Prot:

NLRP3_HUMAN :
  • The pyrin domain (also called DAPIN domain or PYD) is involved in PYCARD-binding.
  • Belongs to the NLRP family.
Domain:
  • The pyrin domain (also called DAPIN domain or PYD) is involved in PYCARD-binding.
  • The LRR domain mediates the interaction with IRF4 and PML.
  • Intramolecular interactions between NACHT and leucine-rich repeat (LRR) domains may be important for autoinhibition in the absence of activating signal.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP3: view

Function for NLRP3 Gene

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Molecular function for NLRP3 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot Induction:
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).

Phenotypes From GWAS Catalog for NLRP3 Gene

Gene Ontology (GO) - Molecular Function for NLRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 11786556
GO:0005524 ATP binding IEA --
GO:0008134 transcription factor binding ISS --
GO:0042802 identical protein binding IPI 23582325
genes like me logo Genes that share ontologies with NLRP3: view
genes like me logo Genes that share phenotypes with NLRP3: view

Human Phenotype Ontology for NLRP3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NLRP3 Gene

MGI Knock Outs for NLRP3:

Animal Models for research

miRNA for NLRP3 Gene

miRTarBase miRNAs that target NLRP3

Inhibitory RNAs for research

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Clone products for research

  • Addgene plasmids for NLRP3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NLRP3 Gene

Localization for NLRP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP3 Gene

Cytoplasm, cytosol. Inflammasome. Endoplasmic reticulum. Secreted. Nucleus. Note=In macrophages, under resting conditions, mainly located in the cytosol, on the endoplasmic reticulum. After stimulation with inducers of the NLRP3 inflammasome, mitochondria redistribute in the vicinity of the endoplasmic reticulum in the perinuclear region, which results in colocalization of NLRP3 on the endoplasmic reticulum and PYCARD on mitochondria, allowing the activation of inflammasome assembly. After the induction of pyroptosis, inflammasome specks are released into the extracellular space where they can further promote IL1B processing and where they can be engulfed by macrophages. Phagocytosis induces lysosomal damage and inflammasome activation in the recipient cells (PubMed:24952504). In the Th2 subset of CD4(+) helper T-cells, mainly located in the nucleus. Nuclear localization depends upon KPNA2. In the Th1 subset of CD4(+) helper T-cells, mainly cytoplasmic (By similarity). {ECO:0000250 UniProtKB:Q8R4B8, ECO:0000269 PubMed:24952504}.
Golgi apparatus membrane. Note=(Microbial infection) Upon HRSV infection, the protein is mainly located in lipid rafts in the Golgi membrane. {ECO:0000269 PubMed:23229815}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NLRP3 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
extracellular 4
endoplasmic reticulum 4
plasma membrane 3
mitochondrion 3
endosome 3
lysosome 3
cytoskeleton 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for NLRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,IDA 23229815
GO:0005576 extracellular region IEA --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm TAS 15967716
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with NLRP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NLRP3 Gene

Pathways & Interactions for NLRP3 Gene

genes like me logo Genes that share pathways with NLRP3: view

SIGNOR curated interactions for NLRP3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NLRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002523 leukocyte migration involved in inflammatory response IEA --
GO:0002674 negative regulation of acute inflammatory response IMP 11687797
GO:0002830 positive regulation of type 2 immune response ISS --
GO:0006915 apoptotic process NAS 12032915
genes like me logo Genes that share ontologies with NLRP3: view

Drugs & Compounds for NLRP3 Gene

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(13) Drugs for NLRP3 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetracycline Approved, Vet_approved Pharma 152
Dapansutrile Investigational Pharma 7
Anti-Bacterial Agents Pharma 12861
Antibiotics, Antitubercular Pharma 8033
Antibodies Pharma 8474

(1) Additional Compounds for NLRP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NLRP3: view

Transcripts for NLRP3 Gene

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mRNA/cDNA for NLRP3 Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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Clone products for research

  • Addgene plasmids for NLRP3

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: - - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - - -
SP7:
SP8:

Relevant External Links for NLRP3 Gene

GeneLoc Exon Structure for
NLRP3

Expression for NLRP3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLRP3 Gene

mRNA expression in normal human tissues for NLRP3 Gene
mRNA expression by BioGPS for NLRP3 GenemRNA expression by GTEx for NLRP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRP3 Gene

This gene is overexpressed in Whole Blood (x28.9).

Protein differential expression in normal tissues from HIPED for NLRP3 Gene

This gene is overexpressed in Breast (41.1), Peripheral blood mononuclear cells (10.1), and Lung (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NLRP3 Gene



Protein tissue co-expression partners for NLRP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NLRP3

SOURCE GeneReport for Unigene cluster for NLRP3 Gene:

Hs.159483

mRNA Expression by UniProt/SwissProt for NLRP3 Gene:

Q96P20-NLRP3_HUMAN
Tissue specificity: 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).

Evidence on tissue expression from TISSUES for NLRP3 Gene

  • Blood(4.6)
  • Intestine(4.6)
  • Nervous system(4.5)
  • Bone marrow(3.1)
  • Spleen(3)
  • Lymph node(2.7)
  • Lung(2.6)
  • Heart(2.6)
  • Liver(2.6)
  • Kidney(2.5)
  • Skin(2.4)
  • Muscle(2.3)
  • Pancreas(2.1)
  • Bone(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • esophagus
  • lung
Abdomen:
  • kidney
  • liver
  • spleen
  • stomach
Pelvis:
  • ureter
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with NLRP3: view

Primer products for research

Orthologs for NLRP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NLRP3 29 30
  • 98.71 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NLRP3 29 30
  • 84.52 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NLRP3 29 30
  • 83.85 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Nlrp3 29 16 30
  • 81.09 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nlrp3 29
  • 80.9 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia NLRP3 30
  • 44 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 40 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves NLRP3 29
  • 51.08 (n)
-- 30
  • 35 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 33 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC101730774 29
  • 44.55 (n)
Zebrafish
(Danio rerio)
 Actinopterygii si:ch211-66k16.2 30
  • 27 (a)
 ManyToMany
CU693495.1 30
  • 26 (a)
 ManyToMany
nlrb5 30
  • 25 (a)
 ManyToMany
si:ch211-66k16.28 30
  • 18 (a)
 ManyToMany
Species where no ortholog for NLRP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NLRP3 Gene

ENSEMBL:
Gene Tree for NLRP3 (if available)
TreeFam:
Gene Tree for NLRP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NLRP3: view image
Alliance of Genome Resources:
Additional Orthologs for NLRP3

Paralogs for NLRP3 Gene

Paralogs for NLRP3 Gene

(13) SIMAP similar genes for NLRP3 Gene using alignment to 1 proteins:

  • NALP3_HUMAN

Pseudogenes.org Pseudogenes for NLRP3 Gene

genes like me logo Genes that share paralogs with NLRP3: view

Variants for NLRP3 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NLRP3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1001047 Uncertain Significance: Cryopyrin associated periodic syndrome 247,444,728(+) A/C
NM_001243133.2(NLRP3):c.2912A>C (p.Lys971Thr) 		MISSENSE
1004783 Uncertain Significance: Cryopyrin associated periodic syndrome 247,429,745(+) C/A
NM_001243133.2(NLRP3):c.2311C>A (p.Arg771=) 		SYNONYMOUS_VARIANT,INTRON
1008408 Uncertain Significance: Cryopyrin associated periodic syndrome 247,424,804(+) G/A
NM_001243133.2(NLRP3):c.1355G>A (p.Arg452Gln) 		MISSENSE
1013560 Uncertain Significance: not provided 247,425,558(+) G/T
NM_001243133.2(NLRP3):c.2109G>T (p.Gln703His) 		MISSENSE
1013561 Likely Benign: not provided 247,444,040(+) A/G
NM_001243133.2(NLRP3):c.2732A>G (p.Asn911Ser) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NLRP3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NLRP3 Gene

Variant ID Type Subtype PubMed ID
dgv62e201 CNV deletion 23290073
esv2440127 CNV deletion 19546169
esv24867 CNV loss 19812545
esv2727729 CNV deletion 23290073
esv2727740 CNV deletion 23290073
esv2727751 CNV deletion 23290073
esv2727762 CNV deletion 23290073
esv2727773 CNV deletion 23290073
esv3306486 CNV mobile element insertion 20981092
esv33129 CNV gain+loss 17666407
esv3326129 CNV insertion 20981092
esv4825 CNV loss 18987735
nsv1011097 CNV gain 25217958
nsv1068649 CNV deletion 25765185
nsv1115071 CNV deletion 24896259
nsv1127073 CNV deletion 24896259
nsv509790 CNV insertion 20534489
nsv833137 CNV gain 17160897
nsv956594 CNV deletion 24416366

Variation tolerance for NLRP3 Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 35.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLRP3 Gene

Human Gene Mutation Database (HGMD)
NLRP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP3
Leiden Open Variation Database (LOVD)
NLRP3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP3 Gene

Disorders for NLRP3 Gene

MalaCards: The human disease database

(89) MalaCards diseases for NLRP3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search NLRP3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NLRP3_HUMAN
  • 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:0000269 PubMed:11687797, ECO:0000269 PubMed:11992256, ECO:0000269 PubMed:12355493, ECO:0000269 PubMed:12522564, ECO:0000269 PubMed:15593220, ECO:0000269 PubMed:17284928, ECO:0000269 PubMed:24952504}. Note=The disease is caused by variants 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:0000269 PubMed:11687797, ECO:0000269 PubMed:11992256, ECO:0000269 PubMed:12355493, ECO:0000269 PubMed:15593220, ECO:0000269 PubMed:24952504}. Note=The disease is caused by variants 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:0000269 PubMed:12032915, ECO:0000269 PubMed:12483741, ECO:0000269 PubMed:14630794, ECO:0000269 PubMed:15231984, ECO:0000269 PubMed:15334500, ECO:0000269 PubMed:15593220, ECO:0000269 PubMed:24952504}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Keratoendothelitis fugax hereditaria (KEFH) [MIM:148200]: An 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. {ECO:0000269 PubMed:29366613}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 34, with or without inflammation (DFNA34) [MIM:617772]: A 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. {ECO:0000269 PubMed:28847925}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for NLRP3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NLRP3: view

No data available for Genatlas for NLRP3 Gene

Publications for NLRP3 Gene

  1. Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. (PMID: 29366613) Turunen JA … Kivelä TT (American journal of ophthalmology 2018) 3 4 72
  2. NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. (PMID: 28847925) Nakanishi H … Griffith AJ (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4 72
  3. Genetic polymorphism in an inflammasome component, cervical mycoplasma detection and female infertility in women undergoing in vitro fertilization. (PMID: 20060594) Witkin SS … Neuer A (Journal of reproductive immunology 2010) 3 22 40
  4. Polymorphism in a gene coding for the inflammasome component NALP3 and recurrent vulvovaginal candidiasis in women with vulvar vestibulitis syndrome. (PMID: 19254587) Lev-Sagie A … Witkin SS (American journal of obstetrics and gynecology 2009) 3 22 40
  5. Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis. (PMID: 19784369) Villani AC … Franchimont D (PloS one 2009) 3 22 40

ExternalLinks

View latest publications for NLRP3 gene in Mastermind

Products for NLRP3 Gene

  • Addgene plasmids for NLRP3

Sources for NLRP3 Gene