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Aliases for ENPP3 Gene

Aliases for ENPP3 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 3 2 3
  • Phosphodiesterase I/Nucleotide Pyrophosphatase 3 3 4
  • PD-IBETA 3 4
  • PDNP3 3 4
  • 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 nut allergic reaction. Among its related pathways are Metabolism 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENPP3 Gene

Genomics for ENPP3 Gene

Regulatory Elements for ENPP3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 2 divalent metal cations per subunit.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD05192.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ENPP3 Gene

Proteomics data for ENPP3 Gene at MOPED

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 Asn 236, Asn 279, Asn 290, Asn 426, Asn 533, Asn 582, Asn 594, Asn 687, Asn 699, and Asn 789
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP3 Gene

Antibody Products

  • R&D Systems Antibodies for ENPP3 (ENPP-3/CD203c)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ENPP3

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 :
  • Contains 2 SMB (somatomedin-B) domains.
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
Domain:
  • Contains 2 SMB (somatomedin-B) domains.
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 dinucleotide + H(2)O = 2 mononucleotides
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 --
GO:0004528 phosphodiesterase I activity IEA --
GO:0004551 nucleotide diphosphatase activity TAS 9344668
GO:0005044 scavenger receptor activity IEA --
genes like me logo Genes that share ontologies with ENPP3: view

Phenotypes for ENPP3 Gene

GenomeRNAi human phenotypes for ENPP3:
genes like me logo Genes that share phenotypes with ENPP3: view

Animal Model Products

miRNA for ENPP3 Gene

miRTarBase miRNAs that target ENPP3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ENPP3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for ENPP3 Gene COMPARTMENTS Subcellular localization image for ENPP3 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 2
lysosome 2
vacuole 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ENPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9344668
GO:0048471 perinuclear region of cytoplasm IDA 10513816
GO:0070062 extracellular exosome IDA 19056867
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

Interacting Proteins 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 --
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

(9) Drugs for ENPP3 Gene - From: HMDB and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Flavin Mononucleotide Experimental Pharma 5
Glucose 1-phosphate Experimental Pharma 0
Uridine 5'-monophosphate Experimental Pharma 0

(13) 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ENPP3

Flow Cytometry 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 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, MOPED, and MaxQB for ENPP3 Gene



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.
genes like me logo Genes that share expression patterns with ENPP3: view

Protein tissue co-expression partners for ENPP3 Gene

Primer Products

In Situ Assay Products

Orthologs for ENPP3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENPP3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ENPP3 35
  • 85.96 (n)
  • 81.92 (a)
ENPP3 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENPP3 35
  • 86.96 (n)
  • 85.24 (a)
ENPP3 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Enpp3 35
  • 82.02 (n)
  • 80.99 (a)
Enpp3 16
Enpp3 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ENPP3 35
  • 99.54 (n)
  • 99.31 (a)
ENPP3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enpp3 35
  • 81.58 (n)
  • 81.58 (a)
oppossum
(Monodelphis domestica)
Mammalia ENPP3 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
ManyToMany
-- 36
  • 65 (a)
ManyToMany
-- 36
  • 57 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ENPP3 35
  • 68.84 (n)
  • 66.82 (a)
ENPP3 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENPP3 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enpp3 35
  • 65.2 (n)
  • 63.28 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01103847.1 36
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C27A7.1 37
  • 33 (a)
C27A7.3 37
  • 31 (a)
F13H10.5 36
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPP1 36
  • 20 (a)
ManyToMany
NPP2 36
  • 25 (a)
ManyToMany
NPP2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G29700 35
  • 51.75 (n)
  • 42.82 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2772 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToMany
Species with no ortholog for ENPP3:
  • 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 MAF
rs57526819 -- 131,716,027(+) AGACA(-/G)GACTT intron-variant
rs57394903 -- 131,689,297(+) GTCAA(C/T)GCTTG intron-variant
rs57387780 -- 131,654,137(+) TATTA(-/TTATTATTATTA)CGAGA intron-variant
rs57234356 -- 131,717,351(+) CGGGG(-/GGTGTGTGTG)TGTGT intron-variant
rs57226939 -- 131,717,351(+) CGGGG(-/GGTGTGTG)TGTGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7968 CNV Loss 18304495
dgv88n68 CNV Loss 17160897
nsv886669 CNV Gain 21882294
esv24430 CNV Gain+Loss 19812545
nsv821228 CNV Duplication 20802225
nsv471444 CNV Duplication 19718026
esv2637208 CNV Insertion 19546169
esv1329374 CNV Insertion 17803354

Variation tolerance for ENPP3 Gene

Residual Variation Intolerance Score: 90.88% 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

HapMap Linkage Disequilibrium report
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 and GeneCards

Disorder Aliases PubMed IDs
exercise induced anaphylaxis
  • exercise anaphylaxis
nut allergic reaction
  • allergy to nuts other than peanuts
- elite association
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 23 67
  2. Basophil sensitivity through CD63 or CD203c is a functional measure for specific immunotherapy. (PMID: 20158902) Mikkelsen S. … Hoffmann H.J. (Clin Mol Allergy 2010) 23 67
  3. Biochemical, immunological and clinical characterization of a cross-reactive nonspecific lipid transfer protein 1 from mulberry. (PMID: 19958316) Ciardiello M.A. … Colombo P. (Allergy 2010) 23 67
  4. Stimulus-specific regulation of CD63 and CD203c membrane expression in human basophils by the flavonoid quercetin. (PMID: 19887118) Chirumbolo S. … Bellavite P. (Int. Immunopharmacol. 2010) 23 67
  5. CD203c expression on human basophils is associated with asthma exacerbation. (PMID: 20159259) Ono E. … Akiyama K. (J. Allergy Clin. Immunol. 2010) 23 67

Products for ENPP3 Gene

Sources for ENPP3 Gene

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