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NLRP3 (NLR family pyrin domain containing 3)

Identity

Alias (NCBI)AGTAVPRL
AII
AVP
C1orf7
CIAS1
CLR1.1
DFNA34
FCAS
FCAS1
FCU
KEFH
MWS
NALP3
PYPAF1
HGNC (Hugo) NLRP3
HGNC Alias symbAGTAVPRL
AII
AVP
FCAS
FCU
NALP3
PYPAF1
MWS
CLR1.1
HGNC Alias nameCryopyrin
 nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3
HGNC Previous nameC1orf7
 CIAS1
 DFNA34
HGNC Previous namecold autoinflammatory syndrome 1
 deafness, autosomal dominant 34
LocusID (NCBI) 114548
Atlas_Id 43213
Location 1q44  [Link to chromosome band 1q44]
Location_base_pair Starts at 247416173 and ends at 247448817 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    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]  chr1:247416173-247448817 [Contig_View]  NLRP3 [Vega]
ICGC DataPortalENSG00000162711
TCGA cBioPortalNLRP3
AceView (NCBI)NLRP3
Genatlas (Paris)NLRP3
SOURCE (Princeton)NLRP3
Genetics Home Reference (NIH)NLRP3
Genomic and cartography
GoldenPath hg38 (UCSC)NLRP3  -     chr1:247416173-247448817 +  1q44   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NLRP3  -     1q44   [Description]    (hg19-Feb_2009)
GoldenPathNLRP3 - 1q44 [CytoView hg19]  NLRP3 - 1q44 [CytoView hg38]
ImmunoBaseENSG00000162711
genome Data Viewer NCBINLRP3 [Mapview hg19]  
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
Alternative Splicing GalleryENSG00000162711
Gene ExpressionNLRP3 [ NCBI-GEO ]   NLRP3 [ EBI - ARRAY_EXPRESS ]   NLRP3 [ SEEK ]   NLRP3 [ MEM ]
Gene Expression Viewer (FireBrowse)NLRP3 [ Firebrowse - Broad ]
GenevisibleExpression of NLRP3 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
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)NLRP3
Blocks (Seattle)NLRP3
Human Protein Atlas [tissue]ENSG00000162711-NLRP3 [tissue]
HPRD05915
IPIIPI00553033   IPI00374129   IPI00742837   IPI00451585   IPI00556137   
Protein Interaction databases
BioGRIDNLRP3
STRING (EMBL)NLRP3
ZODIACNLRP3
Ontologies - Pathways
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNLRP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 25 19:36:42 CET 2021

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