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NLRP3 (NLR family, pyrin domain containing 3)

Identity

Other namesAGTAVPRL
AII
AVP
C1orf7
CIAS1
CLR1.1
FCAS
FCU
MWS
NALP3
PYPAF1
HGNC (Hugo) NLRP3
LocusID (NCBI) 114548
Location 1q44
Location_base_pair Starts at 247579458 and ends at 247612406 bp from pter ( according to hg19-Feb_2009)
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
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)AC_000133 NC_000001 NC_018912 NG_007509 NT_167186 NW_001838554 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 [ SEEK ]   NLRP3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96P20 (Uniprot)
NextProtQ96P20  [Medical]
With graphics : InterProQ96P20
Splice isoforms : SwissVarQ96P20 (Swissvar)
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)    NACHT (PS50837)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom    Leu-rich_rpt_RNase_inh_sub-typ    NACHT_NTPase    NATCH-assoc    P-loop_NTPase   
Related proteins : CluSTrQ96P20
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)Q96P20
PDB (SRS)3QF2   
PDB (PDBSum)3QF2   
PDB (IMB)3QF2   
PDB (RSDB)3QF2   
Human Protein AtlasENSG00000162711
Peptide AtlasQ96P20
HPRD05915
IPIIPI00553033   IPI00374129   IPI00742837   IPI00451585   IPI00556137   
Protein Interaction databases
DIP (DOE-UCLA)Q96P20
IntAct (EBI)Q96P20
FunCoupENSG00000162711
BioGRIDNLRP3
IntegromeDBNLRP3
STRING (EMBL)NLRP3
Ontologies - Pathways
QuickGOQ96P20
Ontology : AmiGOnegative regulation of acute inflammatory response  protein binding  ATP binding  cytoplasm  cytoplasm  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  defense response  inflammatory response  signal transduction  detection of biotic stimulus  negative regulation of NF-kappaB transcription factor activity  interleukin-1 beta production  interleukin-18 production  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  negative regulation of NF-kappaB import into nucleus  peptidoglycan binding  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  NLRP3 inflammasome complex assembly  innate immune response  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  
Ontology : EGO-EBInegative regulation of acute inflammatory response  protein binding  ATP binding  cytoplasm  cytoplasm  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  defense response  inflammatory response  signal transduction  detection of biotic stimulus  negative regulation of NF-kappaB transcription factor activity  interleukin-1 beta production  interleukin-18 production  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  negative regulation of NF-kappaB import into nucleus  peptidoglycan binding  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  NLRP3 inflammasome complex assembly  innate immune response  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  
Pathways : KEGGNOD-like receptor signaling pathway    Pertussis    Influenza A   
Protein Interaction DatabaseNLRP3
DoCM (Curated mutations)NLRP3
Wikipedia pathwaysNLRP3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNLRP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NLRP3
dbVarNLRP3
ClinVarNLRP3
1000_GenomesNLRP3 
Exome Variant ServerNLRP3
SNP (GeneSNP Utah)NLRP3
SNP : HGBaseNLRP3
Genetic variants : HAPMAPNLRP3
Genomic VariantsNLRP3  NLRP3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000162711 
Somatic Mutations in Cancer : COSMICNLRP3 
CONAN: Copy Number AnalysisNLRP3 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:247579458-247612406
Mutations and Diseases : HGMDNLRP3
OMIM120100    191900    606416    607115   
MedgenNLRP3
NextProtQ96P20 [Medical]
GENETestsNLRP3
Disease Genetic AssociationNLRP3
Huge Navigator NLRP3 [HugePedia]  NLRP3 [HugeCancerGEM]
snp3D : Map Gene to Disease114548
DGIdb (Drug Gene Interaction db)NLRP3
General knowledge
Homologs : HomoloGeneNLRP3
Homology/Alignments : Family Browser (UCSC)NLRP3
Phylogenetic Trees/Animal Genes : TreeFamNLRP3
Chemical/Protein Interactions : CTD114548
Chemical/Pharm GKB GenePA26512
Clinical trialNLRP3
Cancer Resource (Charite)ENSG00000162711
Other databases
Probes
Litterature
PubMed239 Pubmed reference(s) in Entrez
CoreMineNLRP3
GoPubMedNLRP3
iHOPNLRP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:28:41 CET 2014
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