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Aliases for NLRP3 Gene

Aliases for NLRP3 Gene

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

External Ids for NLRP3 Gene

Previous HGNC Symbols for NLRP3 Gene

  • C1orf7
  • CIAS1

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 NALP3 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. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). 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, Oct 2008]

GeneCards Summary for NLRP3 Gene

NLRP3 (NLR Family, Pyrin Domain Containing 3) is a Protein Coding gene. Diseases associated with NLRP3 include muckle-wells syndrome and cinca syndrome. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include peptidoglycan binding. An important paralog of this gene is NLRP7.

UniProtKB/Swiss-Prot 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). Recruitement of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. 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, beta-amyloid fibers, environmental or industrial particles and nanoparticles, etc. However, it is unclear what constitutes the direct NLRP3 activator. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRP3 Gene

Genomics for NLRP3 Gene

Regulatory Elements for NLRP3 Gene

Promoters for NLRP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NLRP3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the NLRP3 gene promoter:

Genomic Location for NLRP3 Gene

Chromosome:
1
Start:
247,415,904 bp from pter
End:
247,449,108 bp from pter
Size:
33,205 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 StructureGene Density

RefSeq DNA sequence for NLRP3 Gene

Proteins for NLRP3 Gene

  • 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).
    SequenceCaution:
    • Sequence=AAC39910.1; Type=Frameshift; Positions=893, 918, 926; Evidence={ECO:0000305}; Sequence=AAL12497.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAL12498.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAL33908.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAL65136.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD92128.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG37494.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NLRP3 Gene

    Alternative splice isoforms for NLRP3 Gene

neXtProt entry for NLRP3 Gene

Proteomics data for NLRP3 Gene at MOPED

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

Antibody Products

No data available for DME Specific Peptides for NLRP3 Gene

Domains & Families for NLRP3 Gene

Gene Families for NLRP3 Gene

Suggested Antigen Peptide Sequences for NLRP3 Gene

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.
  • Contains 9 LRR (leucine-rich) repeats.
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.
  • Contains 1 NACHT domain.
  • Contains 1 pyrin domain.
Family:
  • Belongs to the NLRP family.
Similarity:
  • Contains 9 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with NLRP3: view

Function for NLRP3 Gene

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). Recruitement of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. 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, beta-amyloid fibers, environmental or industrial particles and nanoparticles, etc. However, it is unclear what constitutes the direct NLRP3 activator. 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).
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 Model Products

miRNA for NLRP3 Gene

miRTarBase miRNAs that target NLRP3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NLRP3 Gene COMPARTMENTS Subcellular localization image for NLRP3 gene
Compartment Confidence
cytosol 5
nucleus 5
endoplasmic reticulum 4
extracellular 4
lysosome 2
mitochondrion 2
plasma membrane 2
vacuole 2
endosome 1

Gene Ontology (GO) - Cellular Components for NLRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 15967716
genes like me logo Genes that share ontologies with NLRP3: view

Pathways & Interactions for NLRP3 Gene

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

Gene Ontology (GO) - Biological Process for NLRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002674 negative regulation of acute inflammatory response IMP 11687797
GO:0006351 transcription, DNA-templated IEA --
GO:0006915 apoptotic process NAS 12032915
GO:0006952 defense response TAS 15967716
GO:0006954 inflammatory response IMP 12093792
genes like me logo Genes that share ontologies with NLRP3: view

No data available for SIGNOR curated interactions for NLRP3 Gene

Drugs & Compounds for NLRP3 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antibodies Pharma 4477
Immunoglobulins Pharma 4477
Vaccines Pharma 6085

(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

Unigene Clusters for NLRP3 Gene

NLR family, pyrin domain containing 3:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NLRP3

Expression for NLRP3 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for NLRP3 Gene



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 Hassalls corpuscles in the thymus. Also, detected in the stratified epithelium covering the bladder and ureter (transitional mucosa) (at protein level) (PubMed:17164409). Expressed in chondrocytes (PubMed:12032915). Expressed at low levels in resting osteoblasts (PubMed:17907925).
genes like me logo Genes that share expression patterns with NLRP3: view

Protein tissue co-expression partners for NLRP3 Gene

Primer Products

In Situ Assay Products

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 35
  • 98.71 (n)
  • 98.65 (a)
NLRP3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NLRP3 36
  • 83 (a)
OneToOne
NLRP3 35
  • 84.52 (n)
  • 84.13 (a)
dog
(Canis familiaris)
Mammalia NLRP3 35
  • 83.85 (n)
  • 81.93 (a)
NLRP3 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nlrp3 16
Nlrp3 35
  • 81.09 (n)
  • 83.12 (a)
Nlrp3 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 40 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia NLRP3 36
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nlrp3 35
  • 80.9 (n)
  • 82.38 (a)
chicken
(Gallus gallus)
Aves NLRP3 35
  • 51.08 (n)
  • 36.82 (a)
-- 36
  • 35 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 33 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730774 35
  • 44.55 (n)
  • 37.27 (a)
zebrafish
(Danio rerio)
Actinopterygii CU693495.1 36
  • 26 (a)
ManyToMany
nlrb5 36
  • 25 (a)
ManyToMany
si:ch211-66k16.2 36
  • 27 (a)
ManyToMany
si:ch211-66k16.28 36
  • 18 (a)
ManyToMany
Species with no ortholog for NLRP3:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for NLRP3 Gene

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

Pseudogenes.org Pseudogenes for NLRP3 Gene

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

Variants for NLRP3 Gene

Sequence variations from dbSNP and Humsavar for NLRP3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121908147 Familial cold autoinflammatory syndrome 1 (FCAS1), Muckle-Wells syndrome (MWS) 247,424,041(+) GCCCC(A/C/G)TGAGT reference, missense
VAR_013228 Muckle-Wells syndrome (MWS)
VAR_013229 Familial cold autoinflammatory syndrome 1 (FCAS1)
VAR_013230 Familial cold autoinflammatory syndrome 1 (FCAS1)
VAR_014104 Familial cold autoinflammatory syndrome 1 (FCAS1)

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

Variant ID Type Subtype PubMed ID
esv33129 CNV Gain+Loss 17666407
nsv833137 CNV Gain 17160897
nsv509790 CNV Insertion 20534489
esv2727729 CNV Deletion 23290073
esv2727740 CNV Deletion 23290073
dgv74e201 CNV Deletion 23290073
esv2440127 CNV Deletion 19546169
esv2727751 CNV Deletion 23290073
esv24867 CNV Loss 19812545
esv2727762 CNV Deletion 23290073
esv4825 CNV Deletion 18987735
esv2727773 CNV Deletion 23290073
esv270762 CNV Insertion 20981092

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)

Relevant External Links for NLRP3 Gene

HapMap Linkage Disequilibrium report
NLRP3
Human Gene Mutation Database (HGMD)
NLRP3

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

Disorders for NLRP3 Gene

MalaCards: The human disease database

(41) MalaCards diseases for NLRP3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muckle-wells syndrome
  • muckle wells syndrome
cinca syndrome
  • chronic infantile neurological cutaneous articular syndrome
familial cold-induced inflammatory syndrome 1
  • cold-induced autoinflammatory syndrome, familial
familial cold autoinflammatory syndrome
  • familial cold urticaria
chronic infantile neurological cutaneous articular syndrome
  • cinca
- 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 mutations affecting the gene represented in this entry.
  • Muckle-Wells syndrome (MWS) [MIM:191900]: A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs. {ECO: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 mutations affecting the gene represented in this entry.
  • Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]: Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. {ECO: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 mutations affecting the gene represented in this entry.

Relevant External Links for NLRP3

Genetic Association Database (GAD)
NLRP3
Human Genome Epidemiology (HuGE) Navigator
NLRP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NLRP3
genes like me logo Genes that share disorders with NLRP3: view

No data available for Genatlas for NLRP3 Gene

Publications for NLRP3 Gene

  1. PYPAF1: a PYRIN-containing APAF1-like protein that assembles with ASC and activates NF-kB. (PMID: 11786556) Manji G.A. … Bertin J. (J. Biol. Chem. 2002) 3 4 23 67
  2. Genetic polymorphism in an inflammasome component, cervical mycoplasma detection and female infertility in women undergoing in vitro fertilization. (PMID: 20060594) Witkin S.S. … Neuer A. (J. Reprod. Immunol. 2010) 3 23
  3. Critical role of apoptotic speck protein containing a caspase recruitment domain (ASC) and NLRP3 in causing necrosis and ASC speck formation induced by Porphyromonas gingivalis in human cells. (PMID: 19201894) Huang M.T. … Ting J.P. (J. Immunol. 2009) 3 23
  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 S.S. (Am. J. Obstet. Gynecol. 2009) 3 23
  5. Glyburide inhibits the Cryopyrin/Nalp3 inflammasome. (PMID: 19805629) Lamkanfi M. … Dixit V.M. (J. Cell Biol. 2009) 3 23

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