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ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)

Identity

Alias_namesNPPS
M6S1
PDNP1
Alias_symbol (synonym)PC-1
PCA1
Other aliasARHR2
COLED
NPP1
HGNC (Hugo) ENPP1
LocusID (NCBI) 5167
Atlas_Id 45867
Location 6q23.2  [Link to chromosome band 6q23]
Location_base_pair Starts at 131808016 and ends at 131895155 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ENPP1 (6q23.2) / RIPPLY2 (6q14.2)ENPP1 6q23.2 / RIPPLY2 6q14.2

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)ENPP1   3356
Cards
Entrez_Gene (NCBI)ENPP1  5167  ectonucleotide pyrophosphatase/phosphodiesterase 1
AliasesARHR2; COLED; M6S1; NPP1; 
NPPS; PC-1; PCA1; PDNP1
GeneCards (Weizmann)ENPP1
Ensembl hg19 (Hinxton)ENSG00000197594 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197594 [Gene_View]  chr6:131808016-131895155 [Contig_View]  ENPP1 [Vega]
ICGC DataPortalENSG00000197594
TCGA cBioPortalENPP1
AceView (NCBI)ENPP1
Genatlas (Paris)ENPP1
WikiGenes5167
SOURCE (Princeton)ENPP1
Genetics Home Reference (NIH)ENPP1
Genomic and cartography
GoldenPath hg38 (UCSC)ENPP1  -     chr6:131808016-131895155 +  6q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ENPP1  -     6q23.2   [Description]    (hg19-Feb_2009)
EnsemblENPP1 - 6q23.2 [CytoView hg19]  ENPP1 - 6q23.2 [CytoView hg38]
Mapping of homologs : NCBIENPP1 [Mapview hg19]  ENPP1 [Mapview hg38]
OMIM125853   173335   208000   601665   613312   615522   
Gene and transcription
Genbank (Entrez)AK314870 BC033008 BC059375 BX537580 D12485
RefSeq transcript (Entrez)NM_006208
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ENPP1
Cluster EST : UnigeneHs.527295 [ NCBI ]
CGAP (NCI)Hs.527295
Alternative Splicing GalleryENSG00000197594
Gene ExpressionENPP1 [ NCBI-GEO ]   ENPP1 [ EBI - ARRAY_EXPRESS ]   ENPP1 [ SEEK ]   ENPP1 [ MEM ]
Gene Expression Viewer (FireBrowse)ENPP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5167
GTEX Portal (Tissue expression)ENPP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22413   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22413  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22413
Splice isoforms : SwissVarP22413
PhosPhoSitePlusP22413
Domaine pattern : Prosite (Expaxy)SMB_1 (PS00524)    SMB_2 (PS50958)   
Domains : Interpro (EBI)Alkaline_Pase-like_a/b/a    Alkaline_phosphatase_core    DNA/RNA_non-sp_Endonuclease    ENPP1    Extracellular_endonuc_su_A    Phosphodiest/P_Trfase    Somatomedin_B_chordata    Somatomedin_B_dom   
Domain families : Pfam (Sanger)Endonuclease_NS (PF01223)    Phosphodiest (PF01663)    Somatomedin_B (PF01033)   
Domain families : Pfam (NCBI)pfam01223    pfam01663    pfam01033   
Domain families : Smart (EMBL)Endonuclease_NS (SM00892)  NUC (SM00477)  SO (SM00201)  
Conserved Domain (NCBI)ENPP1
DMDM Disease mutations5167
Blocks (Seattle)ENPP1
PDB (SRS)2YS0   
PDB (PDBSum)2YS0   
PDB (IMB)2YS0   
PDB (RSDB)2YS0   
Structural Biology KnowledgeBase2YS0   
SCOP (Structural Classification of Proteins)2YS0   
CATH (Classification of proteins structures)2YS0   
SuperfamilyP22413
Human Protein AtlasENSG00000197594
Peptide AtlasP22413
HPRD01415
IPIIPI00184311   IPI00967503   
Protein Interaction databases
DIP (DOE-UCLA)P22413
IntAct (EBI)P22413
FunCoupENSG00000197594
BioGRIDENPP1
STRING (EMBL)ENPP1
ZODIACENPP1
Ontologies - Pathways
QuickGOP22413
Ontology : AmiGOnucleic acid binding  phosphodiesterase I activity  phosphodiesterase I activity  nucleotide diphosphatase activity  nucleotide diphosphatase activity  scavenger receptor activity  insulin receptor binding  calcium ion binding  protein binding  ATP binding  extracellular space  lysosomal membrane  plasma membrane  plasma membrane  integral component of plasma membrane  generation of precursor metabolites and energy  riboflavin metabolic process  phosphate-containing compound metabolic process  receptor-mediated endocytosis  immune response  zinc ion binding  nucleoside triphosphate catabolic process  cell surface  integral component of membrane  basolateral plasma membrane  polysaccharide binding  negative regulation of cell growth  regulation of bone mineralization  inorganic diphosphate transport  cellular phosphate ion homeostasis  sequestering of triglyceride  biomineral tissue development  negative regulation of protein autophosphorylation  cellular response to insulin stimulus  NADH pyrophosphatase activity  protein homodimerization activity  negative regulation of fat cell differentiation  negative regulation of glycogen biosynthetic process  negative regulation of glucose import  negative regulation of insulin receptor signaling pathway  nucleoside-triphosphate diphosphatase activity  3'-phosphoadenosine 5'-phosphosulfate metabolic process  3'-phosphoadenosine 5'-phosphosulfate binding  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBInucleic acid binding  phosphodiesterase I activity  phosphodiesterase I activity  nucleotide diphosphatase activity  nucleotide diphosphatase activity  scavenger receptor activity  insulin receptor binding  calcium ion binding  protein binding  ATP binding  extracellular space  lysosomal membrane  plasma membrane  plasma membrane  integral component of plasma membrane  generation of precursor metabolites and energy  riboflavin metabolic process  phosphate-containing compound metabolic process  receptor-mediated endocytosis  immune response  zinc ion binding  nucleoside triphosphate catabolic process  cell surface  integral component of membrane  basolateral plasma membrane  polysaccharide binding  negative regulation of cell growth  regulation of bone mineralization  inorganic diphosphate transport  cellular phosphate ion homeostasis  sequestering of triglyceride  biomineral tissue development  negative regulation of protein autophosphorylation  cellular response to insulin stimulus  NADH pyrophosphatase activity  protein homodimerization activity  negative regulation of fat cell differentiation  negative regulation of glycogen biosynthetic process  negative regulation of glucose import  negative regulation of insulin receptor signaling pathway  nucleoside-triphosphate diphosphatase activity  3'-phosphoadenosine 5'-phosphosulfate metabolic process  3'-phosphoadenosine 5'-phosphosulfate binding  nucleic acid phosphodiester bond hydrolysis  
Pathways : BIOCARTARegulators of Bone Mineralization [Genes]   
Pathways : KEGGPurine metabolism    Starch and sucrose metabolism    Riboflavin metabolism    Nicotinate and nicotinamide metabolism    Pantothenate and CoA biosynthesis   
NDEx NetworkENPP1
Atlas of Cancer Signalling NetworkENPP1
Wikipedia pathwaysENPP1
Orthology - Evolution
OrthoDB5167
GeneTree (enSembl)ENSG00000197594
Phylogenetic Trees/Animal Genes : TreeFamENPP1
HOVERGENP22413
HOGENOMP22413
Homologs : HomoloGeneENPP1
Homology/Alignments : Family Browser (UCSC)ENPP1
Gene fusions - Rearrangements
Fusion : MitelmanENPP1/RIPPLY2 [6q23.2/6q14.2]  
Fusion: TCGAENPP1 6q23.2 RIPPLY2 6q14.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerENPP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ENPP1
dbVarENPP1
ClinVarENPP1
1000_GenomesENPP1 
Exome Variant ServerENPP1
ExAC (Exome Aggregation Consortium)ENPP1 (select the gene name)
Genetic variants : HAPMAP5167
Genomic Variants (DGV)ENPP1 [DGVbeta]
DECIPHERENPP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisENPP1 
Mutations
ICGC Data PortalENPP1 
TCGA Data PortalENPP1 
Broad Tumor PortalENPP1
OASIS PortalENPP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICENPP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDENPP1
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)LOVD - Munich Open Variation Database
BioMutasearch ENPP1
DgiDB (Drug Gene Interaction Database)ENPP1
DoCM (Curated mutations)ENPP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ENPP1 (select a term)
intoGenENPP1
Cancer3DENPP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125853    173335    208000    601665    613312    615522   
Orphanet3728    21785    20703    10675   
MedgenENPP1
Genetic Testing Registry ENPP1
NextProtP22413 [Medical]
TSGene5167
GENETestsENPP1
Huge Navigator ENPP1 [HugePedia]
snp3D : Map Gene to Disease5167
BioCentury BCIQENPP1
ClinGenENPP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5167
Chemical/Pharm GKB GenePA27791
Clinical trialENPP1
Miscellaneous
canSAR (ICR)ENPP1 (select the gene name)
Probes
Litterature
PubMed203 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineENPP1
EVEXENPP1
GoPubMedENPP1
iHOPENPP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:14:43 CEST 2017

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