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Aliases for ENPP7 Gene

Aliases for ENPP7 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 7 2 3
  • Alkaline Sphingomyelin Phosphodiesterase 3 4
  • Intestinal Alkaline Sphingomyelinase 3 4
  • Alkaline Sphingomyelinase 2 3
  • ALK-SMase 3 4
  • E-NPP 7 3 4
  • NPP-7 3 4
  • Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 7 3
  • EC 3.1.4.12 4
  • NPP7 3

External Ids for ENPP7 Gene

Previous GeneCards Identifiers for ENPP7 Gene

  • GC17P078406
  • GC17P075319
  • GC17P077704
  • GC17P073145

Summaries for ENPP7 Gene

GeneCards Summary for ENPP7 Gene

ENPP7 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 7) is a Protein Coding gene. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include sphingomyelin phosphodiesterase activity. An important paralog of this gene is ENPP3.

UniProtKB/Swiss-Prot for ENPP7 Gene

  • Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity.

Gene Wiki entry for ENPP7 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENPP7 Gene

Genomics for ENPP7 Gene

Regulatory Elements for ENPP7 Gene

Genomic Location for ENPP7 Gene

Start:
79,730,919 bp from pter
End:
79,742,222 bp from pter
Size:
11,304 bases
Orientation:
Plus strand

Genomic View for ENPP7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ENPP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENPP7 Gene

Proteins for ENPP7 Gene

  • Protein details for ENPP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWV6-ENPP7_HUMAN
    Recommended name:
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 7
    Protein Accession:
    Q6UWV6
    Secondary Accessions:
    • Q6ZTS5
    • Q8IUS8

    Protein attributes for ENPP7 Gene

    Size:
    458 amino acids
    Molecular mass:
    51494 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Decreased levels of alkaline sphingomyelin phosphodiesterase may be associated with colon cancer.

neXtProt entry for ENPP7 Gene

Proteomics data for ENPP7 Gene at MOPED

Post-translational modifications for ENPP7 Gene

  • N-glycosylated; required for activity and transport to the plasma membrane.
  • Glycosylation at Asn100, Asn121, Asn146, Asn168, and Asn267

Other Protein References for ENPP7 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for ENPP7 (ENPP-7/Alk-SMase)

No data available for DME Specific Peptides for ENPP7 Gene

Domains for ENPP7 Gene

Protein Domains for ENPP7 Gene

Suggested Antigen Peptide Sequences for ENPP7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UWV6

UniProtKB/Swiss-Prot:

ENPP7_HUMAN :
  • Q6UWV6
Family:
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
genes like me logo Genes that share domains with ENPP7: view

No data available for Gene Families for ENPP7 Gene

Function for ENPP7 Gene

Molecular function for ENPP7 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine.
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited in a dose dependent manner by ATP, imidazole, orthovanadate and zinc ion. Not inhibited by ADP, AMP and EDTA.
UniProtKB/Swiss-Prot Function: Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity.

Enzyme Numbers (IUBMB) for ENPP7 Gene

Gene Ontology (GO) - Molecular Function for ENPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004767 sphingomyelin phosphodiesterase activity IDA 12671034
GO:0046872 metal ion binding --
genes like me logo Genes that share ontologies with ENPP7: view
genes like me logo Genes that share phenotypes with ENPP7: view

Animal Models for ENPP7 Gene

MGI Knock Outs for ENPP7:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ENPP7

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ENPP7 Gene

Localization for ENPP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPP7 Gene

Membrane; Single-pass type I membrane protein. Note=Localized at the surface of the microvillar membrane in small intestine enterocytes, and in endosome-like structures situated beneath the microvillar membrane, and in Golgi complex. {ECO:0000269 PubMed:12671034, ECO:0000269 PubMed:12885774}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENPP7 Gene COMPARTMENTS Subcellular localization image for ENPP7 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
endosome 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ENPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 12671034
GO:0005886 plasma membrane TAS --
GO:0005902 microvillus IDA 12671034
GO:0016020 membrane NAS 12885774
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ENPP7: view

Pathways for ENPP7 Gene

genes like me logo Genes that share pathways with ENPP7: view

Pathways by source for ENPP7 Gene

Gene Ontology (GO) - Biological Process for ENPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006684 sphingomyelin metabolic process IDA 12671034
GO:0006685 sphingomyelin catabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with ENPP7: view

Compounds for ENPP7 Gene

(152) HMDB Compounds for ENPP7 Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available

(9) Novoseek inferred chemical compound relationships for ENPP7 Gene

Compound -log(P) Hits PubMed IDs
npps 81.2 1
ceramide 78.2 5
sphingosine 69.2 4
glycocholate 67.9 1
phosphorylcholine 65.6 2
genes like me logo Genes that share compounds with ENPP7: view

Transcripts for ENPP7 Gene

mRNA/cDNA for ENPP7 Gene

(12) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ENPP7 Gene

Ectonucleotide pyrophosphatase/phosphodiesterase 7:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ENPP7

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ENPP7

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENPP7 Gene

No ASD Table

Relevant External Links for ENPP7 Gene

GeneLoc Exon Structure for
ENPP7
ECgene alternative splicing isoforms for
ENPP7

Expression for ENPP7 Gene

mRNA expression in normal human tissues for ENPP7 Gene

mRNA differential expression in normal tissues according to GTEx for ENPP7 Gene

This gene is overexpressed in Liver (29.3), Kidney - Cortex (10.3), and Small Intestine - Terminal Ileum (9.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ENPP7 Gene

SOURCE GeneReport for Unigene cluster for ENPP7 Gene Hs.114084

mRNA Expression by UniProt/SwissProt for ENPP7 Gene

Q6UWV6-ENPP7_HUMAN
Tissue specificity: Detected in the colon (at protein level). Expressed in the duodenum, jejunum and liver and at low levels in the ileum. Expression was very low in the esophagus, stomach and colon.
genes like me logo Genes that share expressions with ENPP7: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ENPP7 Gene

Orthologs for ENPP7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ENPP7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENPP7 35
  • 98.76 (n)
  • 98.47 (a)
ENPP7 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ENPP7 35
  • 83.1 (n)
  • 81.52 (a)
ENPP7 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENPP7 35
  • 83.79 (n)
  • 81.34 (a)
ENPP7 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Enpp7 35
  • 83.25 (n)
  • 84.09 (a)
Enpp7 16
Enpp7 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENPP7 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enpp7 35
  • 83.33 (n)
  • 82.86 (a)
chicken
(Gallus gallus)
Aves ENPP7 35
  • 71.96 (n)
  • 67.51 (a)
ENPP7 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENPP7 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enpp7 35
  • 64.46 (n)
  • 65.05 (a)
zebrafish
(Danio rerio)
Actinopterygii enpp7 36
  • 49 (a)
OneToMany
enpp7 36
  • 47 (a)
OneToMany
ENPP7 (1 of 4) 36
  • 48 (a)
OneToMany
ENPP7 (4 of 4) 36
  • 48 (a)
OneToMany
LOC557756 35
  • 60.76 (n)
  • 58.59 (a)
worm
(Caenorhabditis elegans)
Secernentea C01B10.9 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for ENPP7:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENPP7 Gene

ENSEMBL:
Gene Tree for ENPP7 (if available)
TreeFam:
Gene Tree for ENPP7 (if available)

Paralogs for ENPP7 Gene

Paralogs for ENPP7 Gene

Selected SIMAP similar genes for ENPP7 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ENPP7: view

Variants for ENPP7 Gene

Sequence variations from dbSNP and Humsavar for ENPP7 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs3194491 -- 79,741,979(+) TCCAG(A/G)GCCCC utr-variant-3-prime
rs3923264 -- 79,733,319(+) ATGAC(C/T)TCGAA intron-variant
rs3923265 -- 79,733,322(+) ACCTC(A/G)AACCT intron-variant
rs4462635 -- 79,734,500(+) tgaga(A/C)ggagt intron-variant
rs4490039 -- 79,729,670(+) cccat(C/T)ccaca upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ENPP7 Gene

Variant ID Type Subtype PubMed ID
nsv908947 CNV Loss 21882294
esv28226 CNV Gain+Loss 19812545
nsv483050 CNV Loss 15286789
nsv908948 CNV Loss 21882294
dgv3292n71 CNV Loss 21882294

Relevant External Links for ENPP7 Gene

HapMap Linkage Disequilibrium report
ENPP7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENPP7 Gene

Disorders for ENPP7 Gene

(10) Novoseek inferred disease relationships for ENPP7 Gene

Disease -log(P) Hits PubMed IDs
colon cancer 61.9 7
familial adenomatous polyposis 55.1 2
colon carcinoma 43.3 1
adenoma 42.3 4
colorectal carcinoma 27.6 1
genes like me logo Genes that share disorders with ENPP7: view

No data available for UniProtKB/Swiss-Prot for ENPP7 Gene

Publications for ENPP7 Gene

  1. Identification of human intestinal alkaline sphingomyelinase as a novel ecto-enzyme related to the nucleotide phosphodiesterase family. (PMID: 12885774) Duan R.-D. … Nilsson A. (J. Biol. Chem. 2003) 2 3 4 23
  2. Purification, localization, and expression of human intestinal alkaline sphingomyelinase. (PMID: 12671034) Duan R.-D. … Nilsson A. (J. Lipid Res. 2003) 3 4 23
  3. Identification of one exon deletion of intestinal alkaline sphingomyelinase in colon cancer HT-29 cells and a differentiation- related expression of the wild-type enzyme in Caco-2 cells. (PMID: 15016655) Wu J. … Duan R.-D. (Carcinogenesis 2004) 3 4 23
  4. Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis. (PMID: 15458386) Wu J. … Duan R.-D. (Biochem. J. 2005) 3 4 23
  5. Cloning of alkaline sphingomyelinase from rat intestinal mucosa and adjusting of the hypothetical protein XP_221184 in GenBank. (PMID: 15708357) Wu J. … Duan R.D. (Biochim. Biophys. Acta 2005) 3 23

Products for ENPP7 Gene

Sources for ENPP7 Gene

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