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NLRP3 Gene

protein-coding   GIFtS: 65
GCID: GC01P247579

NLR Family, Pyrin Domain Containing 3

(Previous name: cold autoinflammatory syndrome 1)
(Previous symbols: C1orf7, CIAS1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NLR Family, Pyrin Domain Containing 31 2     Leucine Rich Repeat And Pyrin Domain Containing 31
CIAS11 2 3 5     Nucleotide-Binding Oligomerization Domain1
C1orf71 2 3     AGTAVPRL2
NALP32 3 5     AII2
PYPAF12 3 5     AVP2
Cryopyrin1 3     MWS2
Caterpiller Protein 1.12 3     cryopyrin2
Cold Autoinflammatory Syndrome 1 Protein2 3     NACHT Domain-, Leucine-Rich Repeat-, And PYD-Containing Protein 32
CLR1.12 3     NACHT, LRR And PYD Containing Protein 32
PYRIN-Containing APAF1-Like Protein 12 3     NACHT, LRR And PYD Domains-Containing Protein 32
FCAS2 5     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 32
FCU2 5     Angiotensin/Vasopressin Receptor AII/AVP-Like3
Cold Autoinflammatory Syndrome 11     

External Ids:    HGNC: 164001   Entrez Gene: 1145482   Ensembl: ENSG000001627117   OMIM: 6064165   UniProtKB: Q96P203   

Export aliases for NLRP3 gene to outside databases

Previous GC identifers: GC01P245648 GC01P217973


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 wells syndrome, and muckle-wells syndrome. GO annotations related to this gene include peptidoglycan binding. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot: NALP3_HUMAN, Q96P20
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

summary for NLRP3 Gene:
Vasopressin receptors are a group of G-protein-coupled receptors that mediate vasoconstriction, antidiuresis
and ACTH release. They are currently divided into three subtypes, V1A, V1B and V2 and are closely related to
oxytocin receptors (OT). V1A is coupled to Gq/11 proteins and is found at high density on smooth muscle
cells. It is involved in regulation of blood pressure through arterial vasoconstriction and has been found
to stimulate VEGF secretion. V1B is located in the hypothalamus, where it controls ACTH secretion, and in
the pancreas, where it is involved in insulin release. V2 is coupled to Gs proteins and is found exclusively
on the basolateral membrane of collecting duct cells in the kidney, where it regulates water excretion.

Gene Wiki entry for NLRP3 (NALP3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NLRP3 gene promoter:
         AP-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NLRP3 promoter sequence
   Search Chromatin IP Primers for NLRP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q44   Ensembl cytogenetic band:  1q44   HGNC cytogenetic band: 1q44

NLRP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P247579:  view genomic region     (about GC identifiers)

Start:
247,579,458 bp from pter      End:
247,612,410 bp from pter
Size:
32,953 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NALP3_HUMAN, Q96P20 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 3  
Size: 1036 amino acids; 118173 Da
Subunit: 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
Sequence caution: Sequence=AAC39910.1; Type=Frameshift; Positions=893, 918, 926; Sequence=AAL12497.1;
Type=Erroneous initiation; Sequence=AAL12498.1; Type=Erroneous initiation; Sequence=AAL33908.1; Type=Erroneous
initiation; Sequence=AAL65136.1; Type=Erroneous initiation; Sequence=AAQ98889.1; Type=Erroneous initiation;
Sequence=BAD92128.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG37494.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI17155.1; Type=Erroneous
initiation;
1 PDB 3D structure from and Proteopedia for NLRP3:
3QF2 (3D)    
Secondary accessions: B2RC97 B7ZKS9 B7ZKT2 B7ZKT3 O75434 Q17RS2 Q59H68 Q5JQS8 Q5JQS9 Q6TG35
Q8TCW0 Q8TEU9 Q8WXH9
Alternative splicing: 6 isoforms:  Q96P20-1   Q96P20-2   Q96P20-3   Q96P20-4   Q96P20-5   Q96P20-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NLRP3: NX_Q96P20

Explore proteomics data for NLRP3 at MOPED

Post-translational modifications: 

  • The disulfide bond in the DAPIN domain may play a role in inflammation activation by reactive oxygen species1
  • Modification sites at neXtProt

  • See NLRP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001073289.1  NP_001120933.1  NP_001120934.1  NP_001230062.1  NP_004886.3  NP_899632.1  

    ENSEMBL proteins: 
     ENSP00000375704   ENSP00000337383   ENSP00000294752   ENSP00000355452   ENSP00000375703  
     ENSP00000355453  
    Reactome Protein details: Q96P20

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NLR: Nucleotide-binding domain and leucine rich repeat containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: NLRP3
    NOD-like receptor family

    5 InterPro protein domains:
     IPR011029 DEATH-like_dom
     IPR007111 NACHT_NTPase
     IPR027417 P-loop_NTPase
     IPR004020 DAPIN
     IPR003590 Leu-rich_rpt_RNase_inh_sub-typ

    Graphical View of Domain Structure for InterPro Entry Q96P20

    ProtoNet protein and cluster: Q96P20

    2 Blocks protein domains:
    IPB003590 Leucine-rich repeat
    IPB004020 Pyrin domain


    UniProtKB/Swiss-Prot: NALP3_HUMAN, Q96P20
    Similarity: Belongs to the NLRP family
    Similarity: Contains 1 DAPIN domain
    Similarity: Contains 9 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    NLRP3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NALP3_HUMAN, Q96P20
    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
    Induction: By TNF

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11786556
    GO:0005524ATP binding IEA--
    GO:0042834peptidoglycan binding TAS15967716
         
    NLRP3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NLRP3:
     Decreased viability of wild-ty 

         15 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Nlrp3):
     cellular  digestive/alimentary  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 
     nervous system  normal  renal/urinary system  reproductive system  skeleton 

    NLRP3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NLRP3: Nlrp3tm1Flv Nlrp3tm1Bhk Nlrp3tm1Vmd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NLRP3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NLRP3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NLRP3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NLRP3

    miRNA
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    miRTarBase miRNAs that target NLRP3:
    hsa-mir-193b-3p (MIRT016468), hsa-mir-100-5p (MIRT048559)

    Block miRNA regulation of human, mouse, rat NLRP3 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate NLRP3:
    hsa-miR-22 hsa-miR-223 hsa-miR-935
    SwitchGear 3'UTR luciferase reporter plasmidNLRP3 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NALP3_HUMAN, Q96P20: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    lysosome2
    nucleus2
    vacuole2
    endosome1
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS15967716
    GO:0005829cytosol TAS--
    GO:0072559NLRP3 inflammasome complex IDA15030775

    NLRP3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NLRP3 About    
    See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.68
    NOD pathway0.33
    NOD-like receptor signaling pathway0.37
    Inflammasomes0.00
    2NOD-like Receptor Signaling Pathways
    NOD-like Receptor Signaling Pathways0.58
    Inflammasome Activation Pathways0.51
    3Influenza A
    Influenza A0.34
    4Pertussis
    Pertussis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for NLRP3
        NOD-like Receptor Signaling Pathways
    Inflammasome Activation Pathways


    1 BioSystems Pathway for NLRP3
        NOD pathway

    1 Reactome Pathway for NLRP3
        The NLRP3 inflammasome


    3 Kegg Pathways  (Kegg details for NLRP3):
        NOD-like receptor signaling pathway
    Pertussis
    Influenza A


    NLRP3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NLRP3 (see all 7): 
              Innate & Adaptive Immune Responses in human mouse rat
              Antiviral Response in human mouse rat
              Insulin Resistance in human mouse rat
              Inflammasomes in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NLRP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for NLRP3 (Q96P201, 3 ENSP000003373834) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PYCARDQ9ULZ31, 3, ENSP000002474704EBI-6253230,EBI-751215 I2D: score=3 STRING: ENSP00000247470
    CARD8Q9Y2G23, ENSP000003519014I2D: score=1 STRING: ENSP00000351901
    SUGT1Q9Y2Z03, ENSP000003672084I2D: score=1 STRING: ENSP00000367208
    TXNIPQ9H3M73, ENSP000003583234I2D: score=1 STRING: ENSP00000358323
    CASP1P294663, ENSP000004100764I2D: score=1 STRING: ENSP00000410076
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002674negative regulation of acute inflammatory response IMP11687797
    GO:0006915apoptotic process NAS12032915
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IEA--
    GO:0006952defense response TAS15967716
    GO:0006954inflammatory response IMP12093792

    NLRP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for NLRP3
      Browse compounds at ApexBio 

    Compounds for NLRP3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    d[Leu4,Lys8]-VP Selective V1B agonist[42061-33-6]
    [Arg8]-VasopressinAntidiuretic hormone[113-79-1]
    SR 49059 Selective, orally active vasopressin V1A receptor antagonist [150375-75-0]
    DesmopressinSynthetic vasopressin analog; V1B and V2 agonist[16679-58-6]
    (d(CH2)51,Tyr(Me)2,Arg8)-Vasopressin Selective vasopressin V1A antagonist[73168-24-8]

    5 Novoseek inferred chemical compound relationships for NLRP3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anakinra 90.1 7 14872505 (2), 18311804 (2), 16449034 (1), 17486372 (1) (see all 5)
    mevalonate 52 4 17213252 (1), 16466630 (1)
    atp 11.5 13 17433728 (3), 17763411 (3), 19805629 (2), 18322214 (1) (see all 5)
    methotrexate 6.63 1 15231984 (1)
    threonine 0 2 15231984 (1), 17213252 (1)



    NLRP3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NLRP3 gene (6 alternative transcripts): 
    NM_001079821.2  NM_001127461.2  NM_001127462.2  NM_001243133.1  NM_004895.4  NM_183395.2  

    Unigene Cluster for NLRP3:

    NLR family, pyrin domain containing 3
    Hs.159483  [show with all ESTs]
    Unigene Representative Sequence: NM_004895
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391828(uc001icr.3) ENST00000336119 ENST00000348069(uc001ict.1)
    ENST00000366496 ENST00000474792 ENST00000391827 ENST00000532083 ENST00000366497(uc001ics.3 uc001icu.3 uc001icw.3 uc001icv.3 uc010pyw.2)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB208891.1 AF054176.1 AF410477.1 AF420469.1 AF427617.1 AF468522.1 AK314998.1 AY092033.1 
    AY422168.1 BC117211.1 BC143359.1 BC143362.1 BC143363.1 

    6 DOTS entries:

    DT.100751481  DT.100751480  DT.97838385  DT.101980720  DT.91787789  DT.40189710 

    Selected AceView cDNA sequences (see all 30):

    CD368880 BX281732 BX280095 NM_183395 BQ232967 AY422168 NM_004895 CR609473 
    AF418985 BX414702 AF410477 AF420469 AF054176 AK027194 AY092033 CA309001 
    AF427617 AL601856 AA381361 CA308182 AF468522 C01539 AW468866 BE243034 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NLRP3 (see all 8)    About this scheme

    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:                                                              -     -           -     -                                 


    ECgene alternative splicing isoforms for NLRP3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NLRP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTTGTAG
    NLRP3 Expression
    About this image


    NLRP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    NLRP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NLRP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.159483

    UniProtKB/Swiss-Prot: NALP3_HUMAN, Q96P20
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NLRP3 (see all 7): 
              Innate & Adaptive Immune Responses in human mouse rat
              Antiviral Response in human mouse rat
              Insulin Resistance in human mouse rat
              Inflammasomes in human mouse rat
              Apoptosis 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NLRP3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nlrp31 , 5 NLR family, pyrin domain containing 31, 5 81.09(n)1
    83.12(a)1
      11 (37.73 cM)5
    2167991  NM_145827.31  NP_665826.11 
     595415685 
    chicken
    (Gallus gallus)
    Aves NLRP31 NLR family, pyrin domain containing 3 51.08(n)
    36.82(a)
      423021  XM_001233261.3  XP_001233262.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    33(a)
    1 → many
    1(77089333-77108440)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017307741 NACHT, LRR and PYD domains-containing protein 1-like 44.55(n)
    37.27(a)
      101730774  XM_004917602.1  XP_004917659.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-66k16.26
    CU693495.16
    (see all 4)
    Uncharacterized protein
    (see all 4)
    27(a)
    26(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    2(45509755-45512232) ENSDARG00000095634
    2(43739588-43750519) ENSDARG00000088955


    ENSEMBL Gene Tree for NLRP3 (if available)
    TreeFam Gene Tree for NLRP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NLRP3 gene
    NLRP42  NLRP132  NLRP92  NLRC32  NLRP62  NLRP142  NLRP72  NLRP112  
    NLRP102  NLRP22  NLRP52  NLRP82  NLRP122  
    13 SIMAP similar genes for NLRP3 using alignment to 1 protein entry:     NALP3_HUMAN:
    NLRP12    RNH1    NLRP1    NLRP14    NLRP13    NLRP4
    NLRP9    NLRP7    NLRP10    NLRP2    NLRP8    NLRP5
    NLRP6

    NLRP3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NLRP3
    PGOHUM00000241942


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NLRP3 (see all 1449)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219081471,2,,4
    C,FMuckle-Wells syndrome (MWS)4 pathogenic1254380503(+) GCCCCG/ATGAGT 12 /M /V mis12Minor allele frequency- A:0.01NA EU 5847
    rs289378961,2,,4
    CFamilial cold autoinflammatory syndrome 1 (FCAS1)4 pathogenic1254380969(+) GGCCCC/TGGAGA 12 P L mis1 ese30--------
    rs1452680731,2,,4
    C,FFamilial cold autoinflammatory syndrome 1 (FCAS1)4 untested1254381374(+) CCTCAG/AGAATC 12 /K /R mis12Minor allele frequency- A:0.00NA EU 5563
    VAR_0436884
    Chronic infantile neurologic cutaneous and articular syndrome (CINCA)4--see VAR_0436882 T I mis40--------
    VAR_0141074
    Muckle-Wells syndrome (MWS)4--see VAR_0141072 G R mis40--------
    VAR_0436914
    Chronic infantile neurologic cutaneous and articular syndrome (CINCA)4--see VAR_0436912 Y C mis40--------
    VAR_0143694
    Muckle-Wells syndrome (MWS)4--see VAR_0143692 A T mis40--------
    VAR_0436804
    Chronic infantile neurologic cutaneous and articular syndrome (CINCA)4--see VAR_0436802 R L mis40--------
    VAR_0141054
    Muckle-Wells syndrome (MWS)4--see VAR_0141052 D N mis40--------
    VAR_0143664
    Muckle-Wells syndrome (MWS)4--see VAR_0143662 T M mis40--------

    HapMap Linkage Disequilibrium report for NLRP3 (247579458 - 247612410 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NLRP3 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4825CNV Deletion18987735
    esv2727751CNV Deletion23290073
    esv2440127CNV Deletion19546169
    esv2727740CNV Deletion23290073
    esv2727762CNV Deletion23290073
    esv2727773CNV Deletion23290073
    esv2727729CNV Deletion23290073
    dgv74e201CNV Deletion23290073
    nsv509790CNV Insertion20534489
    esv270762CNV Insertion20981092

    Human Gene Mutation Database (HGMD): NLRP3
    Locus Specific Mutation Databases (LSDB): NLRP3

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for NLRP3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606416   
    OMIM disorders: 120100  191900  607115  
    UniProtKB/Swiss-Prot: NALP3_HUMAN, Q96P20
  • 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. 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. 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for NLRP3 (see all 85):    
    About MalaCards
    wells syndrome    muckle-wells syndrome    cryopyrin-associated periodic syndrome    chronic infantile neurological cutaneous articular syndrome
    cinca syndrome with nlrp3 mutations    mycobacterium kansasii    chronic meningitis    familial cold autoinflammatory syndrome
    familial cold autoinflammatory syndrome 1    psoriatic juvenile idiopathic arthritis    mycobacterium abscessus    vulvovaginitis
    vulvovaginal candidiasis    vulvar vestibulitis syndrome    blau syndrome    familial mediterranean fever
    pyoderma    pyoderma gangrenosum    schnitzler syndrome    mevalonic aciduria

    5 diseases from the University of Copenhagen DISEASES database for NLRP3:
    Familial Mediterranean fever     Gout     Exanthem     Blau syndrome
    Dermatitis

    NLRP3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for NLRP3 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muckle-wells syndrome 98.3 32 15801036 (2), 16279571 (2), 12483741 (2), 15270877 (1) (see all 24)
    cold hypersensitivity 97.9 28 12483741 (2), 12387810 (1), 15801036 (1), 12496512 (1) (see all 23)
    cinca syndrome 97.9 64 12483741 (6), 16255047 (5), 14630794 (3), 16920754 (3) (see all 28)
    familial mediterranean fever 85.8 7 18347298 (1), 14752334 (1), 18172447 (1), 12520003 (1) (see all 7)
    blau syndrome 82.2 2 16724804 (1), 16466630 (1)
    urticaria 75.7 4 15245511 (1), 17646489 (1), 18426134 (1)
    hereditary periodic fever syndromes 72.6 1 16901068 (1)
    pyoderma gangrenosum 66.9 2 17213252 (1), 16466630 (1)
    familial disorder 63 1 16407888 (1)
    conjunctivitis 57.2 1 15245511 (1)

    Genetic Association Database (GAD): NLRP3
    Human Genome Epidemiology (HuGE) Navigator: NLRP3 (36 documents)

    Export disorders for NLRP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NLRP3 gene, integrated from 10 sources (see all 320):
    (articles sorted by number of sources associating them with NLRP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PYPAF1: a PYRIN-containing APAF1-like protein that assembles with ASC and activates NF-kB. (PubMed id 11786556)1, 2, 9 Manji G.A....Bertin J. (J. Biol. Chem. 2002)
    2. Inflammasome components NALP 1 and 3 Show distinct but separate Expression profiles in human tissues suggesting a site-specific role in the inflammatory response. (PubMed id 17164409)1, 2, 9 Kummer J.A.... Tschopp J. (J. Histochem. Cytochem. 2007)
    3. 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. (PubMed id 12483741)1, 2, 9 Aksentijevich I....Goldbach-Mansky R. (Arthritis Rheum. 2002)
    4. Genetic variation in proteins of the cryopyrin inflammasome influences susceptibility and severity of rheumatoid arthritis (the Swedish TIRA project). (PubMed id 18263599)1, 4, 9 Kastbom A....SAPderkvist P. (Rheumatology (Oxford) 2008)
    5. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. (PubMed id 14630794)1, 2, 9 Neven B.... de Saint Basile G. (Blood 2004)
    6. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. (PubMed id 15030775)1, 2, 9 Agostini L....Tschopp J. (Immunity 2004)
    7. Osteoblasts express NLRP3, a nucleotide-binding domain and leucine- rich repeat region containing receptor implicated in bacterially induced cell death. (PubMed id 17907925)1, 2, 9 McCall S.H.... Marriott I. (J. Bone Miner. Res. 2008)
    8. Genetic polymorphism in an inflammasome component, cervical mycoplasma detection and female infertility in women undergoing in vitro fertilization. (PubMed id 20060594)1, 4, 9 Witkin S.S....Neuer A. (J. Reprod. Immunol. 2010)
    9. Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis. (PubMed id 19784369)1, 4, 9 Villani A.C....Franchimont D. (PLoS ONE 2009)
    10. Polymorphism in a gene coding for the inflammasome component NALP3 and recurrent vulvovaginal candidiasis in women with vulvar vestibulitis syndrome. (PubMed id 19254587)1, 4, 9 Lev-Sagie A....Witkin S.S. (Am. J. Obstet. Gynecol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 114548 HGNC: 16400 AceView: CIAS1 Ensembl:ENSG00000162711 euGenes: HUgn114548
    ECgene: NLRP3 Kegg: 114548 H-InvDB: NLRP3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NLRP3 Pharmacogenomics, SNPs, Pathways
    INFEVERShttp://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=4
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NLRP3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NLRP3 gene:
    Search GeneIP for patents involving NLRP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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