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NLRP5 (NLR family pyrin domain containing 5)

Identity

Alias_namesNALP5
NACHT, leucine rich repeat and PYD containing 5
Alias_symbol (synonym)PYPAF8
MATER
PAN11
CLR19.8
Other alias
HGNC (Hugo) NLRP5
LocusID (NCBI) 126206
Atlas_Id 70877
Location 19q13.43  [Link to chromosome band 19q13]
Location_base_pair Starts at 55999726 and ends at 56061808 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ZNF492 (19p12) / NLRP5 (19q13.43)

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)NLRP5   21269
Cards
Entrez_Gene (NCBI)NLRP5  126206  NLR family pyrin domain containing 5
AliasesCLR19.8; MATER; NALP5; PAN11; 
PYPAF8
GeneCards (Weizmann)NLRP5
Ensembl hg19 (Hinxton)ENSG00000171487 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171487 [Gene_View]  chr19:55999726-56061808 [Contig_View]  NLRP5 [Vega]
ICGC DataPortalENSG00000171487
TCGA cBioPortalNLRP5
AceView (NCBI)NLRP5
Genatlas (Paris)NLRP5
WikiGenes126206
SOURCE (Princeton)NLRP5
Genetics Home Reference (NIH)NLRP5
Genomic and cartography
GoldenPath hg38 (UCSC)NLRP5  -     chr19:55999726-56061808 +  19q13.43   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NLRP5  -     19q13.43   [Description]    (hg19-Feb_2009)
EnsemblNLRP5 - 19q13.43 [CytoView hg19]  NLRP5 - 19q13.43 [CytoView hg38]
Mapping of homologs : NCBINLRP5 [Mapview hg19]  NLRP5 [Mapview hg38]
OMIM609658   
Gene and transcription
Genbank (Entrez)AY054986 AY154460 BC141431
RefSeq transcript (Entrez)NM_153447
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NLRP5
Cluster EST : UnigeneHs.356872 [ NCBI ]
CGAP (NCI)Hs.356872
Alternative Splicing GalleryENSG00000171487
Gene ExpressionNLRP5 [ NCBI-GEO ]   NLRP5 [ EBI - ARRAY_EXPRESS ]   NLRP5 [ SEEK ]   NLRP5 [ MEM ]
Gene Expression Viewer (FireBrowse)NLRP5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126206
GTEX Portal (Tissue expression)NLRP5
Protein : pattern, domain, 3D structure
UniProt/SwissProtP59047   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP59047  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP59047
Splice isoforms : SwissVarP59047
PhosPhoSitePlusP59047
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)    NACHT (PS50837)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom    L_dom-like    Leu-rich_rpt    NACHT_NTPase    P-loop_NTPase   
Domain families : Pfam (Sanger)LRR_6 (PF13516)    PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam13516    pfam02758   
Domain families : Smart (EMBL)PYRIN (SM01289)  
Conserved Domain (NCBI)NLRP5
DMDM Disease mutations126206
Blocks (Seattle)NLRP5
SuperfamilyP59047
Human Protein AtlasENSG00000171487
Peptide AtlasP59047
HPRD10111
IPIIPI00168282   
Protein Interaction databases
DIP (DOE-UCLA)P59047
IntAct (EBI)P59047
FunCoupENSG00000171487
BioGRIDNLRP5
STRING (EMBL)NLRP5
ZODIACNLRP5
Ontologies - Pathways
QuickGOP59047
Ontology : AmiGOin utero embryonic development  ATP binding  nucleolus  mitochondrion  cytosol  embryo implantation  fertilization  animal organ morphogenesis  regulation of protein stability  cellular protein localization  protein complex  regulation of RNA stability  cellular protein complex assembly  apical cortex  neuron death  
Ontology : EGO-EBIin utero embryonic development  ATP binding  nucleolus  mitochondrion  cytosol  embryo implantation  fertilization  animal organ morphogenesis  regulation of protein stability  cellular protein localization  protein complex  regulation of RNA stability  cellular protein complex assembly  apical cortex  neuron death  
NDEx NetworkNLRP5
Atlas of Cancer Signalling NetworkNLRP5
Wikipedia pathwaysNLRP5
Orthology - Evolution
OrthoDB126206
GeneTree (enSembl)ENSG00000171487
Phylogenetic Trees/Animal Genes : TreeFamNLRP5
HOVERGENP59047
HOGENOMP59047
Homologs : HomoloGeneNLRP5
Homology/Alignments : Family Browser (UCSC)NLRP5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNLRP5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NLRP5
dbVarNLRP5
ClinVarNLRP5
1000_GenomesNLRP5 
Exome Variant ServerNLRP5
ExAC (Exome Aggregation Consortium)NLRP5 (select the gene name)
Genetic variants : HAPMAP126206
Genomic Variants (DGV)NLRP5 [DGVbeta]
DECIPHERNLRP5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNLRP5 
Mutations
ICGC Data PortalNLRP5 
TCGA Data PortalNLRP5 
Broad Tumor PortalNLRP5
OASIS PortalNLRP5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNLRP5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNLRP5
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
BioMutasearch NLRP5
DgiDB (Drug Gene Interaction Database)NLRP5
DoCM (Curated mutations)NLRP5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NLRP5 (select a term)
intoGenNLRP5
Cancer3DNLRP5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609658   
Orphanet
MedgenNLRP5
Genetic Testing Registry NLRP5
NextProtP59047 [Medical]
TSGene126206
GENETestsNLRP5
Target ValidationNLRP5
Huge Navigator NLRP5 [HugePedia]
snp3D : Map Gene to Disease126206
BioCentury BCIQNLRP5
ClinGenNLRP5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD126206
Chemical/Pharm GKB GenePA162397970
Clinical trialNLRP5
Miscellaneous
canSAR (ICR)NLRP5 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNLRP5
EVEXNLRP5
GoPubMedNLRP5
iHOPNLRP5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:32:47 CEST 2017

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