NLRP3 (NLR family, pyrin domain containing 3)

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

NLRP3 (NLR family, pyrin domain containing 3)

Identity

Other names	AGTAVPRL
	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 DataPortal	ENSG00000162711
cBioPortal	NLRP3
AceView (NCBI)	NLRP3
Genatlas (Paris)	NLRP3
WikiGenes	114548
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)
Ensembl	NLRP3 - 1q44 [CytoView hg19] NLRP3 - 1q44 [CytoView hg38]
Mapping of homologs : NCBI	NLRP3 [Mapview hg19] NLRP3 [Mapview hg38]
OMIM	120100 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 : Unigene	Hs.159483 [ NCBI ]
CGAP (NCI)	Hs.159483
Alternative Splicing : Fast-db (Paris)	GSHG0001609
Alternative Splicing Gallery	ENSG00000162711
Gene Expression	NLRP3 [ NCBI-GEO ] NLRP3 [ SEEK ] NLRP3 [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q96P20 (Uniprot)
NextProt	Q96P20 [Medical]
With graphics : InterPro	Q96P20
Splice isoforms : SwissVar	Q96P20 (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 : CluSTr	Q96P20
Domain families : Pfam (Sanger)	FISNA (PF14484) PYRIN (PF02758)
Domain families : Pfam (NCBI)	pfam14484 pfam02758
Domain families : Smart (EMBL)	LRR_RI (SM00368)
DMDM Disease mutations	114548
Blocks (Seattle)	Q96P20
PDB (SRS)	3QF2
PDB (PDBSum)	3QF2
PDB (IMB)	3QF2
PDB (RSDB)	3QF2
Human Protein Atlas	ENSG00000162711
Peptide Atlas	Q96P20
HPRD	05915
IPI	IPI00553033 IPI00374129 IPI00742837 IPI00451585 IPI00556137
	Protein Interaction databases
DIP (DOE-UCLA)	Q96P20
IntAct (EBI)	Q96P20
FunCoup	ENSG00000162711
BioGRID	NLRP3
IntegromeDB	NLRP3
STRING (EMBL)	NLRP3
	Ontologies - Pathways
QuickGO	Q96P20
Ontology : AmiGO	negative 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-EBI	negative 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 : KEGG	NOD-like receptor signaling pathway Pertussis Influenza A
Protein Interaction Database	NLRP3
DoCM (Curated mutations)	NLRP3
Wikipedia pathways	NLRP3
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	NLRP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	NLRP3
dbVar	NLRP3
ClinVar	NLRP3
1000_Genomes	NLRP3
Exome Variant Server	NLRP3
SNP (GeneSNP Utah)	NLRP3
SNP : HGBase	NLRP3
Genetic variants : HAPMAP	NLRP3
Genomic Variants (DGV)	NLRP3 [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000162711
Somatic Mutations in Cancer : COSMIC	NLRP3
CONAN: Copy Number Analysis	NLRP3
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 : HGMD	NLRP3
OMIM	120100 191900 606416 607115
Medgen	NLRP3
NextProt	Q96P20 [Medical]
GENETests	NLRP3
Disease Genetic Association	NLRP3
Huge Navigator	NLRP3 [HugePedia] NLRP3 [HugeCancerGEM]
snp3D : Map Gene to Disease	114548
DGIdb (Drug Gene Interaction db)	NLRP3
	General knowledge
Homologs : HomoloGene	NLRP3
Homology/Alignments : Family Browser (UCSC)	NLRP3
Phylogenetic Trees/Animal Genes : TreeFam	NLRP3
Chemical/Protein Interactions : CTD	114548
Chemical/Pharm GKB Gene	PA26512
Clinical trial	NLRP3
Cancer Resource (Charite)	ENSG00000162711
	Other databases
	Probes
	Litterature
PubMed	239 Pubmed reference(s) in Entrez
CoreMine	NLRP3
GoPubMed	NLRP3
iHOP	NLRP3

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Feb 14 17:41:59 CET 2015

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jlhuret@AtlasGeneticsOncology.org.