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Aliases for NLRP3 Gene

Aliases for NLRP3 Gene

  • NLR Family, Pyrin Domain Containing 3 2 3
  • Cryopyrin 2 3 4
  • PYPAF1 3 4 6
  • CIAS1 3 4 6
  • NALP3 3 4 6
  • Cold 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
  • FCAS 3 6
  • FCU 3 6
  • 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
  • NACHT, LRR And PYD Domains-Containing Protein 3 3
  • Angiotensin/Vasopressin Receptor AII/AVP-Like 4
  • Nucleotide-Binding Oligomerization Domain 2
  • NACHT, LRR And PYD Containing Protein 3 3
  • Cold Autoinflammatory Syndrome 1 2
  • AGTAVPRL 3
  • FCAS1 3
  • AII 3
  • AVP 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 Signaling by GPCR. GO annotations related to this gene include peptidoglycan binding. An important paralog of this gene is NLRC3.

UniProtKB/Swiss-Prot for NLRP3 Gene

  • May function as an inducer of apoptosis. Interacts selectively with ASC and this complex may function as an upstream activator of NF-kappa-B signaling. Inhibits TNF-alpha induced activation and nuclear translocation of RELA/NF-KB p65. Also inhibits transcriptional activity of RELA. Activates caspase-1 in response to a number of triggers including bacterial or viral infection which leads to processing and release of IL1B and IL18.

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

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

Genomic Location for NLRP3 Gene

Start:
247,415,945 bp from pter
End:
247,449,108 bp from pter
Size:
33,164 bases
Orientation:
Plus strand

Genomic View for NLRP3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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-NALP3_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 3
    Protein Accession:
    Q96P20
    Secondary Accessions:
    • 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:
    • Part of the NALP3 inflammasome complex which is involved in activation of caspase-1 and caspase-5, leading to processing of IL1B and IL18. Interacts with PYCARD/ASC, PML (isoform PML-1), EIF2AK2/PKR and MEFV.
    SequenceCaution:
    • Sequence=AAC39910.1; Type=Frameshift; Positions=893, 918, 926; Evidence={ECO:0000305}; Sequence=AAL12497.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAL12498.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAL33908.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAL65136.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAQ98889.1; Type=Erroneous initiation; 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}; Sequence=CAI17155.1; Type=Erroneous initiation; 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 DAPIN domain may play a role in inflammation activation by reactive oxygen species
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NLRP3 Gene

Domains for NLRP3 Gene

Gene Families for NLRP3 Gene

HGNC:
  • NLR :Nucleotide-binding domain and leucine rich repeat containing
IUPHAR :

Suggested Antigen Peptide Sequences for NLRP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q96P20

UniProtKB/Swiss-Prot:

NALP3_HUMAN :
  • Q96P20
Domain:
  • Contains 1 DAPIN domain.
  • Contains 1 NACHT 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: May function as an inducer of apoptosis. Interacts selectively with ASC and this complex may function as an upstream activator of NF-kappa-B signaling. Inhibits TNF-alpha induced activation and nuclear translocation of RELA/NF-KB p65. Also inhibits transcriptional activity of RELA. Activates caspase-1 in response to a number of triggers including bacterial or viral infection which leads to processing and release of IL1B and IL18.
UniProtKB/Swiss-Prot Induction: By TNF.

Gene Ontology (GO) - Molecular Function for NLRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11786556
GO:0005524 ATP binding IEA --
GO:0042834 peptidoglycan binding TAS 15967716
genes like me logo Genes that share ontologies with NLRP3: view
genes like me logo Genes that share phenotypes with NLRP3: view

Animal Models for NLRP3 Gene

MGI Knock Outs for NLRP3:

Animal Model Products

miRNA for NLRP3 Gene

miRTarBase miRNAs that target NLRP3

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

Localization for NLRP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP3 Gene

Cytoplasm.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for NLRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 15967716
GO:0005829 cytosol TAS --
GO:0072559 NLRP3 inflammasome complex IDA 15030775
genes like me logo Genes that share ontologies with NLRP3: view

Pathways for NLRP3 Gene

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

PCR Array Products

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:0006915 apoptotic process NAS 12032915
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
GO:0006952 defense response TAS 15967716
GO:0006954 inflammatory response IMP 12093792
genes like me logo Genes that share ontologies with NLRP3: view

Compounds for NLRP3 Gene

(5) Novoseek inferred chemical compound relationships for NLRP3 Gene

Compound -log(P) Hits PubMed IDs
anakinra 90.1 7
mevalonate 52 2
atp 11.5 10
methotrexate 6.63 1
threonine 0 2
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NLRP3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NLRP3

Flow Cytometry Products

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 (28.9).

Integrated Proteomics: protein expression 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-NALP3_HUMAN
Tissue specificity: Expressed in blood leukocytes. Strongly expressed in polymorphonuclear cells and osteoblasts. Undetectable or expressed at a lower magnitude in B- and T-lymphoblasts, respectively. High level of expression detected in chondrocytes. Detected in non-keratinizing epithelia of oropharynx, esophagus and ectocervix and in the urothelial layer of the bladder.
genes like me logo Genes that share expressions with NLRP3: view

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 35
  • 84.52 (n)
  • 84.13 (a)
NLRP3 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NLRP3 35
  • 83.85 (n)
  • 81.93 (a)
NLRP3 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nlrp3 35
  • 81.09 (n)
  • 83.12 (a)
Nlrp3 16
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 -- 36
  • 35 (a)
OneToMany
NLRP3 35
  • 51.08 (n)
  • 36.82 (a)
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

Selected 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 MAF
rs870381 -- 247,422,359(+) GGGCA(A/G)TAGAG intron-variant
rs947181 -- 247,421,911(-) agtga(C/T)gcacc intron-variant
rs1539019 -- 247,436,999(-) CAAAG(G/T)TATGA intron-variant
rs2027432 -- 247,415,139(-) ATGAC(C/T)ACCAC upstream-variant-2KB
rs2185572 -- 247,431,585(-) ATGAC(A/G)GCAAG intron-variant

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

Relevant External Links for NLRP3 Gene

HapMap Linkage Disequilibrium report
NLRP3
Human Gene Mutation Database (HGMD)
NLRP3
Locus Specific Mutation Databases (LSDB)
NLRP3

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

Disorders for NLRP3 Gene

(3) OMIM Diseases for NLRP3 Gene (606416)

UniProtKB/Swiss-Prot

NALP3_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}. 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}. 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for NLRP3 Gene

(19) Novoseek inferred disease relationships for NLRP3 Gene

Disease -log(P) Hits PubMed IDs
muckle-wells syndrome 98.3 27
cold hypersensitivity 97.9 24
cinca syndrome 97.9 45
familial mediterranean fever 85.8 7
blau syndrome 82.2 2

Relevant External Links for NLRP3

Genetic Association Database (GAD)
NLRP3
Human Genome Epidemiology (HuGE) Navigator
NLRP3
genes like me logo Genes that share disorders with NLRP3: view

Publications for NLRP3 Gene

  1. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. (PMID: 12483741) Aksentijevich I. … Goldbach-Mansky R. (Arthritis Rheum. 2002) 3 4 23
  2. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. (PMID: 15030775) Agostini L. … Tschopp J. (Immunity 2004) 3 4 23
  3. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. (PMID: 14630794) Neven B. … de Saint Basile G. (Blood 2004) 3 4 23
  4. CIAS1/cryopyrin/PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappa B suppressive properties. (PMID: 14662828) O'Connor W. Jr. … Ting J.-P. (J. Immunol. 2003) 3 4 23
  5. 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

Products for NLRP3 Gene

Sources for NLRP3 Gene

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