Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NLRP3 (NLR family, pyrin domain containing 3)

Identity

Other namesAGTAVPRL
AII
AVP
C1orf7
CIAS1
CLR1.1
FCAS
FCAS1
FCU
MWS
NALP3
PYPAF1
HGNC (Hugo) NLRP3
LocusID (NCBI) 114548
Atlas_Id 43213
Location 1q44
Location_base_pair Starts at 247579458 and ends at 247612406 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FGF13 (Xq26.3) / NLRP3 (1q44)FGF13 Xq26.3 / NLRP3 1q44

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NLRP3   16400
Cards
Entrez_Gene (NCBI)NLRP3  114548  NLR family, pyrin domain containing 3
GeneCards (Weizmann)NLRP3
Ensembl hg19 (Hinxton)ENSG00000162711 [Gene_View]  chr1:247579458-247612406 [Contig_View]  NLRP3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000162711 [Gene_View]  chr1:247579458-247612406 [Contig_View]  NLRP3 [Vega]
ICGC DataPortalENSG00000162711
TCGA cBioPortalNLRP3
AceView (NCBI)NLRP3
Genatlas (Paris)NLRP3
WikiGenes114548
SOURCE (Princeton)NLRP3
Genomic and cartography
GoldenPath hg19 (UCSC)NLRP3  -     chr1:247579458-247612406 +  1q44   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NLRP3  -     1q44   [Description]    (hg38-Dec_2013)
EnsemblNLRP3 - 1q44 [CytoView hg19]  NLRP3 - 1q44 [CytoView hg38]
Mapping of homologs : NCBINLRP3 [Mapview hg19]  NLRP3 [Mapview hg38]
OMIM120100   191900   606416   607115   
Gene and transcription
Genbank (Entrez)AB208891 AF054176 AF410477 AF418985 AF420469
RefSeq transcript (Entrez)NM_001079821 NM_001127461 NM_001127462 NM_001243133 NM_004895 NM_183395
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_007509 NT_167186 NW_004929294
Consensus coding sequences : CCDS (NCBI)NLRP3
Cluster EST : UnigeneHs.159483 [ NCBI ]
CGAP (NCI)Hs.159483
Alternative Splicing : Fast-db (Paris)GSHG0001609
Alternative Splicing GalleryENSG00000162711
Gene ExpressionNLRP3 [ NCBI-GEO ]   NLRP3 [ EBI - ARRAY_EXPRESS ]   NLRP3 [ SEEK ]   NLRP3 [ MEM ]
Gene Expression Viewer (FireBrowse)NLRP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)114548
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96P20 (Uniprot)
NextProtQ96P20  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96P20
Splice isoforms : SwissVarQ96P20 (Swissvar)
PhosPhoSitePlusQ96P20
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)    NACHT (PS50837)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom    L_dom-like    Leu-rich_rpt_RNase_inh_sub-typ    NACHT_NTPase    NATCH-assoc    P-loop_NTPase   
Domain families : Pfam (Sanger)FISNA (PF14484)    PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam14484    pfam02758   
Domain families : Smart (EMBL)LRR_RI (SM00368)  
DMDM Disease mutations114548
Blocks (Seattle)NLRP3
PDB (SRS)3QF2   
PDB (PDBSum)3QF2   
PDB (IMB)3QF2   
PDB (RSDB)3QF2   
Structural Biology KnowledgeBase3QF2   
SCOP (Structural Classification of Proteins)3QF2   
CATH (Classification of proteins structures)3QF2   
SuperfamilyQ96P20
Human Protein AtlasENSG00000162711
Peptide AtlasQ96P20
HPRD05915
IPIIPI00553033   IPI00374129   IPI00742837   IPI00451585   IPI00556137   
Protein Interaction databases
DIP (DOE-UCLA)Q96P20
IntAct (EBI)Q96P20
FunCoupENSG00000162711
BioGRIDNLRP3
STRING (EMBL)NLRP3
ZODIACNLRP3
Ontologies - Pathways
QuickGOQ96P20
Ontology : AmiGOnegative regulation of acute inflammatory response  positive regulation of type 2 immune response  protein binding  ATP binding  extracellular region  nucleus  cytoplasm  cytoplasm  endoplasmic reticulum  cytosol  transcription, DNA-templated  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  defense response  inflammatory response  signal transduction  transcription factor binding  detection of biotic stimulus  negative regulation of NF-kappaB transcription factor activity  interleukin-1 beta production  interleukin-18 production  positive regulation of interleukin-13 production  positive regulation of interleukin-4 production  positive regulation of interleukin-5 production  negative regulation of NF-kappaB import into nucleus  peptidoglycan binding  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  sequence-specific DNA binding  NLRP3 inflammasome complex assembly  innate immune response  positive regulation of T-helper 2 cell differentiation  positive regulation of transcription from RNA polymerase II promoter  interleukin-1 secretion  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  negative regulation of inflammatory response  positive regulation of NF-kappaB transcription factor activity  protein oligomerization  defense response to virus  cellular response to lipopolysaccharide  NLRP3 inflammasome complex  positive regulation of T-helper 17 cell differentiation  positive regulation of T-helper 2 cell cytokine production  
Ontology : EGO-EBInegative regulation of acute inflammatory response  positive regulation of type 2 immune response  protein binding  ATP binding  extracellular region  nucleus  cytoplasm  cytoplasm  endoplasmic reticulum  cytosol  transcription, DNA-templated  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  defense response  inflammatory response  signal transduction  transcription factor binding  detection of biotic stimulus  negative regulation of NF-kappaB transcription factor activity  interleukin-1 beta production  interleukin-18 production  positive regulation of interleukin-13 production  positive regulation of interleukin-4 production  positive regulation of interleukin-5 production  negative regulation of NF-kappaB import into nucleus  peptidoglycan binding  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  sequence-specific DNA binding  NLRP3 inflammasome complex assembly  innate immune response  positive regulation of T-helper 2 cell differentiation  positive regulation of transcription from RNA polymerase II promoter  interleukin-1 secretion  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  negative regulation of inflammatory response  positive regulation of NF-kappaB transcription factor activity  protein oligomerization  defense response to virus  cellular response to lipopolysaccharide  NLRP3 inflammasome complex  positive regulation of T-helper 17 cell differentiation  positive regulation of T-helper 2 cell cytokine production  
Pathways : KEGGNOD-like receptor signaling pathway    Pertussis    Influenza A   
NDEx Network
Atlas of Cancer Signalling NetworkNLRP3
Wikipedia pathwaysNLRP3
Orthology - Evolution
OrthoDB114548
GeneTree (enSembl)ENSG00000162711
Phylogenetic Trees/Animal Genes : TreeFamNLRP3
Homologs : HomoloGeneNLRP3
Homology/Alignments : Family Browser (UCSC)NLRP3
Gene fusions - Rearrangements
Fusion: TCGAFGF13 Xq26.3 NLRP3 1q44 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerNLRP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NLRP3
dbVarNLRP3
ClinVarNLRP3
1000_GenomesNLRP3 
Exome Variant ServerNLRP3
ExAC (Exome Aggregation Consortium)NLRP3 (select the gene name)
SNP (GeneSNP Utah)NLRP3
SNP : HGBaseNLRP3
Genetic variants : HAPMAPNLRP3
Genomic Variants (DGV)NLRP3 [DGVbeta]
Mutations
ICGC Data PortalNLRP3 
TCGA Data PortalNLRP3 
Broad Tumor PortalNLRP3
OASIS PortalNLRP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNLRP3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch NLRP3
DgiDB (Drug Gene Interaction Database)NLRP3
DoCM (Curated mutations)NLRP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NLRP3 (select a term)
intoGenNLRP3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:247579458-247612406
CONAN: Copy Number AnalysisNLRP3 
Mutations and Diseases : HGMDNLRP3
OMIM120100    191900    606416    607115   
MedgenNLRP3
Genetic Testing Registry NLRP3
NextProtQ96P20 [Medical]
TSGene114548
GENETestsNLRP3
Huge Navigator NLRP3 [HugePedia]  NLRP3 [HugeCancerGEM]
snp3D : Map Gene to Disease114548
BioCentury BCIQNLRP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114548
Chemical/Pharm GKB GenePA26512
Clinical trialNLRP3
Miscellaneous
canSAR (ICR)NLRP3 (select the gene name)
Probes
Litterature
PubMed351 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNLRP3
GoPubMedNLRP3
iHOPNLRP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 16 17:56:31 CEST 2016

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