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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NLRP3 Gene

protein-coding   GIFtS: 63
GCID: GC01P247579

NLR family, pyrin domain containing 3

(Previous name: cold autoinflammatory syndrome 1 )
(Previous symbols: C1orf7, CIAS1)
 Explore 69 diseases affiliated with
NLRP3 via
MalaCards
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 Human Malady Compendium 
Biological research products
for NLRP3    

Aliases
for NLRP3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NLR Family, Pyrin Domain Containing 31 2     Caterpiller Protein 1.12 3
CIAS11 2 3 5     Cold Autoinflammatory Syndrome 1 Protein2 3
NALP31 2 3 5     PYRIN-Containing APAF1-Like Protein 12 3
PYPAF11 2 3 5     Cold Autoinflammatory Syndrome 11
C1orf71 2 3     Cryopyrin3
CLR1.11 2 3     NACHT Domain-, Leucine-Rich Repeat-, And PYD-Containing Protein 32
FCAS1 2 5     NACHT, LRR And PYD Containing Protein 32
FCU1 2 5     NACHT, LRR And PYD Domains-Containing Protein 32
AGTAVPRL1 2     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain
Containing 32
AII1 2     Cryopyrin3
AVP1 2     Angiotensin/Vasopressin Receptor AII/AVP-Like3
MWS1 2     

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


Summaries
for NLRP3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NLRP3:
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)

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:
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)


Genomic Views
for NLRP3 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NLRP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NLRP3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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: Interacts with PYCARD/ASC. Part of the NALP3 inflammasome complex which is involved in activation of caspase-1
and caspase-5, leading to processing of IL1B and IL18
Subcellular location: Cytoplasm
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; Sequence=CAI17155.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for NLRP3:
3QF2 (3D)    
Secondary accessions: B7ZKT2 B7ZKT3 O75434 Q17RS2 Q59H68 Q5JQS8 Q5JQS9 Q6TG35 Q8TCW0 Q8TEU9 Q8WXH9
Alternative splicing: 5 isoforms:  Q96P20-1   Q96P20-2   Q96P20-3   Q96P20-4   Q96P20-5   (No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96P20

    • NLRP3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals NLRP3 Proteins
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NLRP3

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    NLRP3 for ontologies           About GeneDecksing



    NLRP3 Antibody Products: 
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    Uscn ELISAs and CLIAs for NLRP3

    Protein Domains /
    Families
    for NLRP3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NLRP3 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR007111 NACHT_NTPase
     IPR004020 DAPIN
     IPR011029 DEATH-like_dom
     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 families:
    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


    Function
    for NLRP3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Induction: By TNF

    miRNA
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    hsa-miR-22 hsa-miR-223 hsa-miR-935
    SwitchGear 3'UTR luciferase reporter plasmid: NLRP3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19337385
    GO:0005524ATP binding IEA--
    GO:0042834peptidoglycan binding TAS15967716


    NLRP3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for NLRP3: Nlrp3tm1Flv Nlrp3tm1Bhk Nlrp3tm1Vmd
         11 MGI mutant phenotypes (inferred from 13 alleles) (MGI details for Nlrp3):
     digestive/alimentary  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  normal  renal/urinary system 
     reproductive system 

    NLRP3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NLRP3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NLRP3 oligomerizes via NACHT domains
    		NLRP3 oligomerizes via NACHT domains1.00
    		NLRP3 activation by small molecules0.75
    		NLRP3 activation by elicitor proteins1.00
    2Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    		Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways1.00
    		NOD pathway0.23
    		NOD-like receptor signaling pathway0.36
    3Inflammasomes
    		Inflammasomes1.00
    		The NLRP3 inflammasome0.71
    4Immune System
    		Immune System1.00
    		Innate Immune System0.46
    5Pertussis
    		Pertussis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 R&D Systems Pathway for NLRP3
        Inflammasome Activation Pathways


    1 BioSystems Pathway for NLRP3 
        NOD pathway

    5/8        Reactome Pathways for NLRP3 (see all 8)
        NLRP3 oligomerizes via NACHT domains
    NLRP3 activation by small molecules
    Inflammasomes
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    NLRP3 activation by elicitor proteins


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


    NLRP3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NLRP3

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

    5/21 Interacting proteins for NLRP3 (Q96P201, 3 ENSP000003373834) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    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): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002674negative regulation of acute inflammatory response IMP11687797
    GO:0006917induction of apoptosis 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



    Drugs & Compounds
    for NLRP3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NLRP3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for NLRP3

    Compounds for NLRP3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    [Lys8]-VasopressinAntidiuretic hormone[50-57-7]
    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]
    d[Cha4]-AVPPotent and selective human V1B agonist[500170-27-4]
    5 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about NLRP3 / NALP3 

    Transcripts
    for NLRP3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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)


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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/30 AceView cDNA sequences (see all 30):

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

    GeneLoc Exon Structure

    5/8 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

    Expression
    for NLRP3 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NLRP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTTTGTAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See NLRP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NLRP3

    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

        SABiosciences Expression via Pathway-Focused 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

    Primer
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    In Situ
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    Orthologs
    for NLRP3 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for NLRP3 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NLRP31 NLR family, pyrin domain containing 3 52.4(n)
    36.83(a)    		   423021  XM_001233261.2  XP_001233262.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 28(a)
    		 possible ortholog
    		 GL343281.1(869690-874415)
    zebrafish
    (Danio rerio)    		 Actinopterygii si:ch211-213a13.26
    si:ch211-213a13.56
    (see all 220)    		 si:ch211-213a13.5
    (see all 220)    		 8(a)
    7(a)
    (see all 220)    		 many ↔ many
    many ↔ many
    (see all 220)    		 22(8948738-8996350)
    22(9090823-9139153)


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

    Paralogs
    for NLRP3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NLRP3 gene
    NLRP132  NLRP42  NLRP92  NLRP62  NLRP142  NLRP72  NLRP112  NLRP102  
    NLRP22  NLRP52  NLRP12  NLRP82  NLRP122  
    15 SIMAP similar genes for NLRP3 using alignment to 2 protein entries:     NALP3_HUMAN (see all proteins):
    CIAS1    NLRP12    NLRP1    RNH1    PP1579    NLRP14
    NLRP13    NLRP4    NLRP7    NLRP10    NLRP8    NLRP9
    NLRP2    NLRP5    NLRP6

    NLRP3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NLRP3
    PGOHUM00000241942


    Genomic Variants
    for NLRP3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1252 NCBI SNPs in NLRP3 are shown (see all 1252)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1994757271,2
    		Cuntested217976026(+) GTGTCA/GCCTAG 6 -- ut51 int10--------
    rs1994757281,2
    		Cuntested217980886(+) TCTGGA/GTTTTG 6 -- int10--------
    rs1994757291,2
    		C,untested217980927(+) AATGCA/GCGTGT 12 A syn10--------
    rs1994757331,2
    		Cuntested217981621(+) CCTCAA/GCAAAC 12 N S mis10--------
    rs1491612771,2
    		Cother217980936(+) GTTTCG/AAATCC 12 /S syn11Minor allele frequency- A:0.00EU 1323
    rs794902681,2
    		--217971963(+) GATTGC/TCCTTT 2 -- us2k10--------
    rs101576381,2
    		C,A,--217972349(+) gctctG/Tgtcac 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs725538581,2
    		C,--217973243(+) CGGCCG/ATCTCA 2 -- us2k12Minor allele frequency- A:0.06CSA WA 120
    rs792557731,2
    		C,F,--217973822(+) GGCTGC/GGACTG 6 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1488681751,2
    		C,--217973864(+) TTCCTC/GAGGCT 6 -- us2k1 ut510--------

    HapMap Linkage Disequilibrium report for NLRP3 (247579458 - 247612410 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for NLRP3
         2 CNVs: 6816 97717
         2 Indels: 71738 41515
    Human Gene Mutation Database (HGMD): NLRP3

    Locus Specific Mutation Databases (LSDB): NLRP3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NLRP3
    DNA2.0 Custom Variant and Variant Library Synthesis for NLRP3

    Disorders / Diseases
    for NLRP3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NLRP3 for disorders           About GeneDecksing

    OMIM gene information: 606416   
    OMIM disorders: 120100  191900  607115  
    UniProtKB/Swiss-Prot: NALP3_HUMAN, Q96P20
  • Defects in NLRP3 are the cause of familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]; also
    • known as familial cold urticaria. FCAS are rare autosomal dominant systemic inflammatory diseases characterized by
    episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold
  • Defects in NLRP3 are a cause of Muckle-Wells syndrome (MWS) [MIM:191900]; also known as
    • urticaria-deafness-amyloidosis syndrome. MWS is 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 amyloidosis occurs
  • Defects in NLRP3 are the cause of chronic infantile neurologic cutaneous and articular syndrome (CINCA)
    • [MIM:607115]; also known as neonatal onset multisystem inflammatory disease (NOMID). CINCA is a rare congenital
    inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis and joint
    manifestations with recurrent fever and inflammation

    20/69 diseases for NLRP3 (see all 69):    About MalaCards
    muckle-wells syndrome    familial cold autoinflammatory syndrome    cold-induced autoinflammatory syndrome    cold-induced autoinflammatory syndrome, familial
    cinca syndrome    wells syndrome    cryopyrin-associated periodic syndrome    chronic infantile neurological cutaneous articular syndrome
    pyoderma gangrenosum    familial mediterranean fever    vulvar vestibulitis syndrome    mevalonic aciduria
    periodic fever    hearing loss    pre-eclampsia    vulvovaginal candidiasis
    blau syndrome    pyoderma    autism spectrum disorder    vulvovaginitis

    4 diseases from the University of Copenhagen DISEASES database for NLRP3:
    Familial Mediterranean fever     Blau syndrome     Dermatitis     Arthritis

    10/19 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: NLRP3 (36 documents)

    Export disorders for NLRP3 gene to outside databases

    Publications
    for NLRP3 gene

    (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)
    About This Section

    PubMed articles for NLRP3 gene, integrated from 9 sources (see all 266):
    (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. (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. (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. (2002)
    4. 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. (2004)
    5. 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. (2004)
    6. 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. (2008)
    7. A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. (PubMed id 17284928)1, 2, 9 Shalev S.A....Rottem M. (2007)
    8. CIAS1/cryopyrin/PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappa B suppressive properties. (PubMed id 14662828)1, 2, 9 O'Connor W. Jr.... Ting J.-P. (2003)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    10. Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. (PubMed id 15593220)1, 2 Arostegui J.I....Yaguee J. (2004)

    External Searches for NLRP3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NLRP3 gene

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

    Other Databases showing NLRP3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NLRP3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/NLRP3

    Intellectual Property
    for NLRP3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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