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Aliases for ENPP3 Gene

Aliases for ENPP3 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 3 2 3 5
  • Phosphodiesterase I/Nucleotide Pyrophosphatase 3 3 4
  • PD-IBETA 3 4
  • PDNP3 3 4
  • Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 3 3
  • DJ1005H11.3 (Phosphodiesterase I/Nucleotide Pyrophosphatase 3) 3
  • DJ914N13.3 (Phosphodiesterase I/Nucleotide Pyrophosphatase 3) 3
  • Phosphodiesterase-I Beta 3
  • Phosphodiesterase I Beta 4
  • CD203c Antigen 4
  • Gp130RB13-6 3
  • E-NPP 3 4
  • CD203c 3
  • NPP3 3
  • B10 3

External Ids for ENPP3 Gene

Previous HGNC Symbols for ENPP3 Gene

  • PDNP3

Previous GeneCards Identifiers for ENPP3 Gene

  • GC06M131805
  • GC06P131893
  • GC06P131939
  • GC06P132000
  • GC06P129540
  • GC06P131949

Summaries for ENPP3 Gene

Entrez Gene Summary for ENPP3 Gene

  • The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for ENPP3 Gene

ENPP3 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 3) is a Protein Coding gene. Diseases associated with ENPP3 include Exercise-Induced Anaphylaxis and Allergic Hypersensitivity Disease. Among its related pathways are Kit receptor signaling pathway and NAD metabolism. GO annotations related to this gene include nucleic acid binding and scavenger receptor activity. An important paralog of this gene is ENPP1.

UniProtKB/Swiss-Prot for ENPP3 Gene

  • Cleaves a variety of phosphodiester and phosphosulfate bonds including deoxynucleotides, nucleotide sugars, and NAD.

Gene Wiki entry for ENPP3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENPP3 Gene

Genomics for ENPP3 Gene

Regulatory Elements for ENPP3 Gene

Enhancers for ENPP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G131629 0.9 FANTOM5 17.4 +1.4 1399 0.3 ARNT FUS SIN3A DMAP1 DNMT3B ZNF48 ZNF2 RAD21 ZNF366 PCBP1 ENPP3 RNU4-18P
GH06G131602 0.8 ENCODE 11.9 -25.2 -25222 1.2 CTCF PKNOX1 ARID4B CEBPG RAD21 TEAD3 SLC30A9 POLR2A CBX5 SMC3 ARG1 ENPP3 MED23 RNU4-18P
GH06G131730 0.5 dbSUPER 10 +103.0 103021 1.3 ZNF316 MAFG MAFK ENPP3 CTAGE9 GC06M131781
GH06G131727 0.5 dbSUPER 9.3 +100.7 100695 2.5 CEBPA HLF CEBPB BCL6 KDM1A ENPP3 OR2A4 CTAGE9 GC06M131781
GH06G132611 0.7 ENCODE 4.7 +984.1 984143 1.9 FOXA2 ZNF384 ZBTB40 RARA NR2F6 GATAD2A NR2F1 FOXA3 CEBPB EP300 TAAR5 VNN2 ENPP3 TAAR3P TAAR2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENPP3 on UCSC Golden Path with GeneCards custom track

Promoters for ENPP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000202845 -442 1601 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143

Genomic Location for ENPP3 Gene

Chromosome:
6
Start:
131,628,442 bp from pter
End:
131,747,418 bp from pter
Size:
118,977 bases
Orientation:
Plus strand

Genomic View for ENPP3 Gene

Genes around ENPP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENPP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENPP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENPP3 Gene

Proteins for ENPP3 Gene

  • Protein details for ENPP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14638-ENPP3_HUMAN
    Recommended name:
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 3
    Protein Accession:
    O14638
    Secondary Accessions:
    • Q5JTL3

    Protein attributes for ENPP3 Gene

    Size:
    875 amino acids
    Molecular mass:
    100124 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD05192.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ENPP3 Gene

Post-translational modifications for ENPP3 Gene

  • N-glycosylation is necessary for correct trafficking to the apical surface, but is not the apical targeting signal.
  • Glycosylation at Asn236, Asn279, isoforms=290, isoforms=426, Asn533, Asn582, isoforms=594, Asn687, isoforms=699, and isoforms=789
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP3 Gene

No data available for DME Specific Peptides for ENPP3 Gene

Domains & Families for ENPP3 Gene

Gene Families for ENPP3 Gene

Graphical View of Domain Structure for InterPro Entry

O14638

UniProtKB/Swiss-Prot:

ENPP3_HUMAN :
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
Family:
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
genes like me logo Genes that share domains with ENPP3: view

Function for ENPP3 Gene

Molecular function for ENPP3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolytically removes 5-nucleotides successively from the 3-hydroxy termini of 3-hydroxy-terminated oligonucleotides.
UniProtKB/Swiss-Prot CatalyticActivity:
A nucleoside triphosphate + H(2)O = a nucleotide + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
At low concentrations of ATP, a phosphorylated active site intermediate is formed which inhibits further ATP hydrolysis.
UniProtKB/Swiss-Prot Function:
Cleaves a variety of phosphodiester and phosphosulfate bonds including deoxynucleotides, nucleotide sugars, and NAD.
UniProtKB/Swiss-Prot Induction:
Up-regulated by stimulation by allergen or by cross-linking with IgE. The IgE-mediated activation is enhanced by tetradecanoyl phorbol acetate (TPA), a stimulator of the PKC pathway, and inhibited by the P13 kinase inhibitors, LY294002 and wortmannin. Up-regulated in invasive bile duct cancers.

Gene Ontology (GO) - Molecular Function for ENPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004528 phosphodiesterase I activity IEA --
GO:0004551 nucleotide diphosphatase activity TAS,IEA 9344668
GO:0005044 scavenger receptor activity IEA --
genes like me logo Genes that share ontologies with ENPP3: view
genes like me logo Genes that share phenotypes with ENPP3: view

Animal Models for ENPP3 Gene

MGI Knock Outs for ENPP3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ENPP3

CRISPR Products

miRNA for ENPP3 Gene

miRTarBase miRNAs that target ENPP3

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ENPP3 Gene

Localization for ENPP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPP3 Gene

Membrane; Single-pass type II membrane protein. Secreted. Note=Located to the apical surface in intestinal and kidney epithelial cells. Located to the cell surface of basophils, and to the apical plasma membrane of bile duct cells. Secreted in serum, and in lumen of epithelial cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENPP3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ENPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005887 integral component of plasma membrane TAS 9344668
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0048471 perinuclear region of cytoplasm IDA 10513816
genes like me logo Genes that share ontologies with ENPP3: view

Pathways & Interactions for ENPP3 Gene

genes like me logo Genes that share pathways with ENPP3: view

Pathways by source for ENPP3 Gene

Gene Ontology (GO) - Biological Process for ENPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006796 phosphate-containing compound metabolic process IDA 10513816
GO:0006898 receptor-mediated endocytosis IEA --
GO:0006955 immune response IEA --
GO:0008152 metabolic process IEA --
GO:0009143 nucleoside triphosphate catabolic process IDA 10513816
genes like me logo Genes that share ontologies with ENPP3: view

No data available for SIGNOR curated interactions for ENPP3 Gene

Drugs & Compounds for ENPP3 Gene

(11) Drugs for ENPP3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Flavin Mononucleotide Experimental Pharma 6
Glucose 1-phosphate Experimental Pharma 0

(11) Additional Compounds for ENPP3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
beta-nicotinamide D-ribonucleotide
Dephospho-CoA
  • 3'-Dephospho-CoA
  • 3'-Dephospho-Coenzyme A
  • 3'-O-Dephosphono-CoA
  • 3'-O-Dephosphono-Coenzyme A
  • Dephospho-CoA
3633-59-8
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium inner salt
  • 3-Carbamoyl-1-b-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
1094-61-7
nicotinate beta-D-ribonucleotide
genes like me logo Genes that share compounds with ENPP3: view

Transcripts for ENPP3 Gene

Unigene Clusters for ENPP3 Gene

Ectonucleotide pyrophosphatase/phosphodiesterase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENPP3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: - - -
SP2: - - - -
SP3: -
SP4: -

ExUns: 26 ^ 27 ^ 28a · 28b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ENPP3 Gene

GeneLoc Exon Structure for
ENPP3
ECgene alternative splicing isoforms for
ENPP3

Expression for ENPP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENPP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENPP3 Gene

This gene is overexpressed in Minor Salivary Gland (x6.9), Colon - Transverse (x6.1), and Adrenal Gland (x5.5).

Protein differential expression in normal tissues from HIPED for ENPP3 Gene

This gene is overexpressed in Urine (26.5), Kidney (17.0), Pancreatic juice (10.1), and Lung (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ENPP3 Gene



Protein tissue co-expression partners for ENPP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ENPP3 Gene:

ENPP3

SOURCE GeneReport for Unigene cluster for ENPP3 Gene:

Hs.486489

mRNA Expression by UniProt/SwissProt for ENPP3 Gene:

O14638-ENPP3_HUMAN
Tissue specificity: Expressed in bile ducts, prostate, uterus and colon. Exclusively expressed on basophils, mast cells and their progenitors.

Evidence on tissue expression from TISSUES for ENPP3 Gene

  • Blood(2.5)
genes like me logo Genes that share expression patterns with ENPP3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ENPP3 Gene

Orthologs for ENPP3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENPP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENPP3 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia ENPP3 34 35
  • 86.96 (n)
cow
(Bos Taurus)
Mammalia ENPP3 34 35
  • 85.96 (n)
mouse
(Mus musculus)
Mammalia Enpp3 34 16 35
  • 82.02 (n)
rat
(Rattus norvegicus)
Mammalia Enpp3 34
  • 81.58 (n)
oppossum
(Monodelphis domestica)
Mammalia ENPP3 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
ManyToMany
-- 35
  • 57 (a)
ManyToMany
-- 35
  • 50 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ENPP3 34 35
  • 68.84 (n)
lizard
(Anolis carolinensis)
Reptilia ENPP3 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enpp3 34
  • 65.2 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01103847.1 35
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C27A7.1 36
  • 33 (a)
C27A7.3 36
  • 31 (a)
F13H10.5 35
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPP2 35 37
  • 25 (a)
ManyToMany
NPP1 35
  • 20 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G29700 34
  • 51.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2772 34
Species where no ortholog for ENPP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENPP3 Gene

ENSEMBL:
Gene Tree for ENPP3 (if available)
TreeFam:
Gene Tree for ENPP3 (if available)

Paralogs for ENPP3 Gene

Paralogs for ENPP3 Gene

genes like me logo Genes that share paralogs with ENPP3: view

Variants for ENPP3 Gene

Sequence variations from dbSNP and Humsavar for ENPP3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000009033 -- 131,664,405(+) ACTCA(C/G)TGTTA intron-variant
rs1000066504 -- 131,730,411(+) GTGAG(A/T)ACTCA intron-variant
rs1000079512 -- 131,723,714(+) TTAAG(A/G)AGCAC intron-variant
rs1000083992 -- 131,663,957(+) AACTC(C/T)TGGGC intron-variant
rs1000085418 -- 131,637,970(+) TTTTC(-/TTTTTTT)TAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ENPP3 Gene

Variant ID Type Subtype PubMed ID
dgv3658e59 CNV duplication 20981092
dgv88n68 CNV loss 17160897
esv1329374 CNV insertion 17803354
esv24430 CNV gain+loss 19812545
esv2637208 CNV insertion 19546169
esv3334166 CNV duplication 20981092
esv3377992 CNV duplication 20981092
esv3384854 CNV duplication 20981092
nsv1139874 CNV duplication 24896259
nsv1153899 CNV duplication 26484159
nsv471444 CNV gain 19718026
nsv7968 CNV loss 18304495
nsv821228 CNV duplication 20802225
nsv969445 CNV duplication 23825009
nsv981184 CNV duplication 23825009
nsv981185 CNV duplication 23825009

Variation tolerance for ENPP3 Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.95; 74.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENPP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENPP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENPP3 Gene

Disorders for ENPP3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ENPP3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
exercise-induced anaphylaxis
  • exercise anaphylaxis
allergic hypersensitivity disease
  • allergic disease
- elite association - COSMIC cancer census association via MalaCards
Search ENPP3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ENPP3

Genetic Association Database (GAD)
ENPP3
Human Genome Epidemiology (HuGE) Navigator
ENPP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENPP3
genes like me logo Genes that share disorders with ENPP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENPP3 Gene

Publications for ENPP3 Gene

  1. Molecular cloning and chromosomal localization of PD-Ibeta (PDNP3), a new member of the human phosphodiesterase I genes. (PMID: 9344668) Piao J.-H. … Sano K. (Genomics 1997) 2 3 4 22 64
  2. The basophil-specific ectoenzyme E-NPP3 (CD203c) as a marker for cell activation and allergy diagnosis. (PMID: 15031605) Buehring H.J. … Valent P. (Int. Arch. Allergy Immunol. 2004) 3 4 22 64
  3. Expression and localization of ecto-nucleotide pyrophosphatase/phosphodiesterase I-1 (E-NPP1/PC-1) and -3 (E- NPP3/CD203c/PD-Ibeta/B10/gp130(RB13-6)) in inflammatory and neoplastic bile duct diseases. (PMID: 15072822) Yano Y. … Kasuga M. (Cancer Lett. 2004) 3 4 22 64
  4. The basophil activation marker defined by antibody 97A6 is identical to the ectonucleotide pyrophosphatase/phosphodiesterase 3. (PMID: 11342463) Buehring H.J. … Sano K. (Blood 2001) 3 4 22 64
  5. CD203c expression on human basophils is associated with asthma exacerbation. (PMID: 20159259) Ono E. … Akiyama K. (J. Allergy Clin. Immunol. 2010) 3 22 64

Products for ENPP3 Gene

Sources for ENPP3 Gene

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