Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NLRP1 (NLR family, pyrin domain containing 1)

Identity

Other namesCARD7
CIDED
CLR17.1
DEFCAP
DEFCAP-L/S
NAC
NALP1
PP1044
SLEV1
VAMAS1
HGNC (Hugo) NLRP1
LocusID (NCBI) 22861
Location 17p13.2
Location_base_pair Starts at 5404719 and ends at 5487832 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)NLRP1   14374
Cards
Entrez_Gene (NCBI)NLRP1  22861  NLR family, pyrin domain containing 1
GeneCards (Weizmann)NLRP1
Ensembl hg19 (Hinxton)ENSG00000091592 [Gene_View]  chr17:5404719-5487832 [Contig_View]  NLRP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000091592 [Gene_View]  chr17:5404719-5487832 [Contig_View]  NLRP1 [Vega]
ICGC DataPortalENSG00000091592
cBioPortalNLRP1
AceView (NCBI)NLRP1
Genatlas (Paris)NLRP1
WikiGenes22861
SOURCE (Princeton)NLRP1
Genomic and cartography
GoldenPath hg19 (UCSC)NLRP1  -     chr17:5404719-5487832 -  17p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NLRP1  -     17p13.2   [Description]    (hg38-Dec_2013)
EnsemblNLRP1 - 17p13.2 [CytoView hg19]  NLRP1 - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBINLRP1 [Mapview hg19]  NLRP1 [Mapview hg38]
OMIM606579   606636   615225   
Gene and transcription
Genbank (Entrez)AB023143 AF229059 AF229060 AF229061 AF229062
RefSeq transcript (Entrez)NM_001033053 NM_014922 NM_033004 NM_033006 NM_033007
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_011651 NT_010718 NW_001838403 NW_004929405
Consensus coding sequences : CCDS (NCBI)NLRP1
Cluster EST : UnigeneHs.652273 [ NCBI ]
CGAP (NCI)Hs.652273
Alternative Splicing : Fast-db (Paris)GSHG0013028
Alternative Splicing GalleryENSG00000091592
Gene ExpressionNLRP1 [ NCBI-GEO ]     NLRP1 [ SEEK ]   NLRP1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C000 (Uniprot)
NextProtQ9C000  [Medical]
With graphics : InterProQ9C000
Splice isoforms : SwissVarQ9C000 (Swissvar)
Domaine pattern : Prosite (Expaxy)CARD (PS50209)    DAPIN (PS50824)    LRR (PS51450)    NACHT (PS50837)   
Domains : Interpro (EBI)CARD    DAPIN    DEATH-like_dom    Disease_R    FIIND_dom    Leu-rich_rpt    NACHT_NTPase    P-loop_NTPase   
Related proteins : CluSTrQ9C000
Domain families : Pfam (Sanger)CARD (PF00619)    FIIND (PF13553)    PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam00619    pfam13553    pfam02758   
DMDM Disease mutations22861
Blocks (Seattle)Q9C000
PDB (SRS)1PN5    3KAT    4IFP    4IM6   
PDB (PDBSum)1PN5    3KAT    4IFP    4IM6   
PDB (IMB)1PN5    3KAT    4IFP    4IM6   
PDB (RSDB)1PN5    3KAT    4IFP    4IM6   
Human Protein AtlasENSG00000091592
Peptide AtlasQ9C000
HPRD07364
IPIIPI00328123   IPI00335800   IPI00099688   IPI00004551   IPI01010901   IPI00651756   
Protein Interaction databases
DIP (DOE-UCLA)Q9C000
IntAct (EBI)Q9C000
FunCoupENSG00000091592
BioGRIDNLRP1
IntegromeDBNLRP1
STRING (EMBL)NLRP1
Ontologies - Pathways
QuickGOQ9C000
Ontology : AmiGOprotein binding  ATP binding  intracellular  nucleus  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cysteine-type endopeptidase activator activity involved in apoptotic process  enzyme binding  protein domain specific binding  response to muramyl dipeptide  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  defense response to bacterium  innate immune response  positive regulation of interleukin-1 beta secretion  regulation of inflammatory response  neuron apoptotic process  NLRP1 inflammasome complex  NLRP1 inflammasome complex  
Ontology : EGO-EBIprotein binding  ATP binding  intracellular  nucleus  cytosol  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cysteine-type endopeptidase activator activity involved in apoptotic process  enzyme binding  protein domain specific binding  response to muramyl dipeptide  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  defense response to bacterium  innate immune response  positive regulation of interleukin-1 beta secretion  regulation of inflammatory response  neuron apoptotic process  NLRP1 inflammasome complex  NLRP1 inflammasome complex  
Pathways : KEGGNOD-like receptor signaling pathway   
Protein Interaction DatabaseNLRP1
DoCM (Curated mutations)NLRP1
Wikipedia pathwaysNLRP1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNLRP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NLRP1
dbVarNLRP1
ClinVarNLRP1
1000_GenomesNLRP1 
Exome Variant ServerNLRP1
SNP (GeneSNP Utah)NLRP1
SNP : HGBaseNLRP1
Genetic variants : HAPMAPNLRP1
Genomic VariantsNLRP1  NLRP1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000091592 
Somatic Mutations in Cancer : COSMICNLRP1 
CONAN: Copy Number AnalysisNLRP1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:5404719-5487832
Mutations and Diseases : HGMDNLRP1
OMIM606579    606636    615225   
MedgenNLRP1
NextProtQ9C000 [Medical]
GENETestsNLRP1
Disease Genetic AssociationNLRP1
Huge Navigator NLRP1 [HugePedia]  NLRP1 [HugeCancerGEM]
snp3D : Map Gene to Disease22861
DGIdb (Drug Gene Interaction db)NLRP1
General knowledge
Homologs : HomoloGeneNLRP1
Homology/Alignments : Family Browser (UCSC)NLRP1
Phylogenetic Trees/Animal Genes : TreeFamNLRP1
Chemical/Protein Interactions : CTD22861
Chemical/Pharm GKB GenePA162397797
Clinical trialNLRP1
Cancer Resource (Charite)ENSG00000091592
Other databases
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
CoreMineNLRP1
GoPubMedNLRP1
iHOPNLRP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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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 00:28:39 CET 2014

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