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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
  • 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. Diseases associated with ENPP7 include colorectal cancer. Among its related pathways are 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

Chromosome:
17
Start:
79,730,919 bp from pter
End:
79,742,926 bp from pter
Size:
12,008 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 Asn 100, Asn 121, Asn 146, Asn 168, and Asn 267

Other Protein References for ENPP7 Gene

ENSEMBL proteins:
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 & Families 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 :
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
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
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 Targets 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

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 & Interactions 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

No data available for SIGNOR curated interactions for ENPP7 Gene

Drugs & Compounds for ENPP7 Gene

(4) Drugs for ENPP7 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphocholine Experimental Pharma 0
cholesterol Experimental Pharma Agonist 0
Sphingosine Experimental Pharma 0
lysophosphatidylcholine Pharma Activator 0

(127) Additional Compounds for ENPP7 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
genes like me logo Genes that share compounds with ENPP7: view

Transcripts for ENPP7 Gene

mRNA/cDNA for ENPP7 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(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

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x29.3), Kidney - Cortex (x10.3), and Small Intestine - Terminal Ileum (x9.8).

Protein differential expression in normal tissues from HIPED for ENPP7 Gene

This gene is overexpressed in Pancreatic juice (60.5) and Fetal gut (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ENPP7: view

Protein tissue co-expression partners for ENPP7 Gene

Primer Products

In Situ Assay Products

Orthologs for ENPP7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ENPP7 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia ENPP7 35
  • 98.76 (n)
  • 98.47 (a)
ENPP7 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enpp7 35
  • 83.33 (n)
  • 82.86 (a)
oppossum
(Monodelphis domestica)
Mammalia ENPP7 36
  • 77 (a)
OneToOne
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 LOC557756 35
  • 60.76 (n)
  • 58.59 (a)
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
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

(4) 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
rs7207698 -- 79,736,125(+) gtctc(A/G)aactt intron-variant
rs7210835 -- 79,735,820(+) cccag(A/G)ctcaa intron-variant
rs8073451 -- 79,736,365(+) GCACT(C/T)CCTGT intron-variant
rs8074547 - 79,731,150(+) AGGCC(C/T)GGCCG reference, missense
rs8074728 -- 79,731,283(+) CAGGA(C/T)GTGGA reference, synonymous-codon

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

Variation tolerance for ENPP7 Gene

Residual Variation Intolerance Score: 97.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.30; 70.51% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(1) MalaCards diseases for ENPP7 Gene - From: DISEASES and NovoSeek

Disorder Aliases PubMed IDs
colorectal cancer
  • colorectal cancer, somatic
- elite association
Search ENPP7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ENPP7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENPP7
genes like me logo Genes that share disorders with ENPP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 23 67
  2. Sphingolipids in human ileostomy content after meals containing milk sphingomyelin. (PMID: 20071649) Ohlsson L. … Nilsson A. (Am. J. Clin. Nutr. 2010) 23 67
  3. Metabolism of sphingolipids in the gut and its relation to inflammation and cancer development. (PMID: 19027789) Duan R.D. … Nilsson A. (Prog. Lipid Res. 2009) 23 67
  4. Ceramide-induced cell death in malignant cells. (PMID: 18353542) Carpinteiro A. … Gulbins E. (Cancer Lett. 2008) 23 67
  5. VSL#3 probiotic upregulates intestinal mucosal alkaline sphingomyelinase and reduces inflammation. (PMID: 18354751) Soo I. … Fedorak R.N. (Can. J. Gastroenterol. 2008) 23 67

Products for ENPP7 Gene

Sources for ENPP7 Gene

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