Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NLRP3 (NLR family pyrin domain containing 3)

Identity

Alias_namesC1orf7
CIAS1
cold autoinflammatory syndrome 1
Alias_symbol (synonym)AGTAVPRL
AII
AVP
FCAS
FCU
NALP3
PYPAF1
MWS
CLR1.1
Other aliasDFNA34
FCAS1
KEFH
HGNC (Hugo) NLRP3
LocusID (NCBI) 114548
Atlas_Id 43213
Location 1q44  [Link to chromosome band 1q44]
Location_base_pair Starts at 247418049 and ends at 247449104 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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
LRG (Locus Reference Genomic)LRG_197
Cards
Entrez_Gene (NCBI)NLRP3  114548  NLR family pyrin domain containing 3
AliasesAGTAVPRL; AII; AVP; C1orf7; 
CIAS1; CLR1.1; DFNA34; FCAS; FCAS1; FCU; KEFH; MWS; NALP3; PYPAF1
GeneCards (Weizmann)NLRP3
Ensembl hg19 (Hinxton)ENSG00000162711 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162711 [Gene_View]  ENSG00000162711 [Sequence]  chr1:247418049-247449104 [Contig_View]  NLRP3 [Vega]
ICGC DataPortalENSG00000162711
TCGA cBioPortalNLRP3
AceView (NCBI)NLRP3
Genatlas (Paris)NLRP3
WikiGenes114548
SOURCE (Princeton)NLRP3
Genetics Home Reference (NIH)NLRP3
Genomic and cartography
GoldenPath hg38 (UCSC)NLRP3  -     chr1:247418049-247449104 +  1q44   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NLRP3  -     1q44   [Description]    (hg19-Feb_2009)
EnsemblNLRP3 - 1q44 [CytoView hg19]  NLRP3 - 1q44 [CytoView hg38]
Mapping of homologs : NCBINLRP3 [Mapview hg19]  NLRP3 [Mapview hg38]
OMIM120100   148200   191900   606416   607115   617772   
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)
Consensus coding sequences : CCDS (NCBI)NLRP3
Cluster EST : UnigeneHs.159483 [ NCBI ]
CGAP (NCI)Hs.159483
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114548
GTEX Portal (Tissue expression)NLRP3
Human Protein AtlasENSG00000162711-NLRP3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96P20   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96P20  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96P20
Splice isoforms : SwissVarQ96P20
PhosPhoSitePlusQ96P20
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)    NACHT (PS50837)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom_sf    Leu-rich_rpt    LRR_dom_sf    NACHT-assoc    NACHT_NTPase    P-loop_NTPase   
Domain families : Pfam (Sanger)FISNA (PF14484)    LRR_6 (PF13516)    PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam14484    pfam13516    pfam02758   
Domain families : Smart (EMBL)FISNA (SM01288)  PYRIN (SM01289)  
Conserved Domain (NCBI)NLRP3
DMDM Disease mutations114548
Blocks (Seattle)NLRP3
PDB (RSDB)2NAQ    3QF2   
PDB Europe2NAQ    3QF2   
PDB (PDBSum)2NAQ    3QF2   
PDB (IMB)2NAQ    3QF2   
Structural Biology KnowledgeBase2NAQ    3QF2   
SCOP (Structural Classification of Proteins)2NAQ    3QF2   
CATH (Classification of proteins structures)2NAQ    3QF2   
SuperfamilyQ96P20
Human Protein Atlas [tissue]ENSG00000162711-NLRP3 [tissue]
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 : AmiGOcytokine secretion involved in immune response  negative regulation of acute inflammatory response  positive regulation of type 2 immune response  protein binding  ATP binding  extracellular region  nucleus  cytoplasm  cytoplasm  endoplasmic reticulum  cytosol  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  protein deubiquitination  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  identical protein binding  peptidoglycan binding  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  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 by RNA polymerase II  interleukin-1 secretion  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  negative regulation of inflammatory response  defense response to Gram-positive bacterium  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  protein complex oligomerization  defense response to virus  cellular response to lipopolysaccharide  cellular response to lipopolysaccharide  cellular response to peptidoglycan  NLRP3 inflammasome complex  negative regulation of NIK/NF-kappaB signaling  negative regulation of NIK/NF-kappaB signaling  positive regulation of T-helper 17 cell differentiation  positive regulation of T-helper 2 cell cytokine production  
Ontology : EGO-EBIcytokine secretion involved in immune response  negative regulation of acute inflammatory response  positive regulation of type 2 immune response  protein binding  ATP binding  extracellular region  nucleus  cytoplasm  cytoplasm  endoplasmic reticulum  cytosol  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  protein deubiquitination  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  identical protein binding  peptidoglycan binding  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  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 by RNA polymerase II  interleukin-1 secretion  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  negative regulation of inflammatory response  defense response to Gram-positive bacterium  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  protein complex oligomerization  defense response to virus  cellular response to lipopolysaccharide  cellular response to lipopolysaccharide  cellular response to peptidoglycan  NLRP3 inflammasome complex  negative regulation of NIK/NF-kappaB signaling  negative regulation of NIK/NF-kappaB signaling  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 NetworkNLRP3
Atlas of Cancer Signalling NetworkNLRP3
Wikipedia pathwaysNLRP3
Orthology - Evolution
OrthoDB114548
GeneTree (enSembl)ENSG00000162711
Phylogenetic Trees/Animal Genes : TreeFamNLRP3
HOGENOMQ96P20
Homologs : HomoloGeneNLRP3
Homology/Alignments : Family Browser (UCSC)NLRP3
Gene fusions - Rearrangements
Fusion PortalFGF13 Xq26.3 NLRP3 1q44 BRCA
Fusion : QuiverNLRP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNLRP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NLRP3
dbVarNLRP3
ClinVarNLRP3
1000_GenomesNLRP3 
Exome Variant ServerNLRP3
ExAC (Exome Aggregation Consortium)ENSG00000162711
GNOMAD BrowserENSG00000162711
Varsome BrowserNLRP3
Genetic variants : HAPMAP114548
Genomic Variants (DGV)NLRP3 [DGVbeta]
DECIPHERNLRP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNLRP3 
Mutations
ICGC Data PortalNLRP3 
TCGA Data PortalNLRP3 
Broad Tumor PortalNLRP3
OASIS PortalNLRP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNLRP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNLRP3
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
Cancer3DNLRP3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120100    148200    191900    606416    607115    617772   
Orphanet2375    3395    10608   
DisGeNETNLRP3
MedgenNLRP3
Genetic Testing Registry NLRP3
NextProtQ96P20 [Medical]
TSGene114548
GENETestsNLRP3
Target ValidationNLRP3
Huge Navigator NLRP3 [HugePedia]
snp3D : Map Gene to Disease114548
BioCentury BCIQNLRP3
ClinGenNLRP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114548
Chemical/Pharm GKB GenePA26512
Clinical trialNLRP3
Miscellaneous
canSAR (ICR)NLRP3 (select the gene name)
DataMed IndexNLRP3
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNLRP3
EVEXNLRP3
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 : Thu Jan 17 18:28:01 CET 2019
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