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Aliases for ENPP7 Gene

Aliases for ENPP7 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 7 2 3 5
  • 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

Entrez Gene Summary for ENPP7 Gene

  • The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]

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 ENPP5.

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

Additional gene information for ENPP7 Gene

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

Genomics for ENPP7 Gene

Regulatory Elements for ENPP7 Gene

Enhancers for ENPP7 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
GH17H079730 1.5 Ensembl ENCODE dbSUPER 15.8 +1.2 1152 3 FOXA2 MLX SIN3A ARID4B DMAP1 YY1 ATF7 MXD4 REST PPARG ENPP7 CBX2
GH17H079728 1.4 Ensembl ENCODE dbSUPER 9.4 -2.2 -2156 1 ATF1 ARID4B ZNF76 ZSCAN9 YY1 ETS1 ELK1 ZNF143 RCOR1 FOS ENPP7 GC17P079727
GH17H079739 1.5 Ensembl ENCODE dbSUPER 8.3 +11.1 11131 5 MLX ARID4B SIN3A DMAP1 ZNF2 GLIS2 ZNF143 KLF7 SP3 SP5 ENPP7 CBX2
GH17H079745 1.4 Ensembl ENCODE dbSUPER 0.4 +16.5 16450 3 HDGF FOXA2 ZNF2 ZNF143 RUNX3 NCOA1 REST KAT8 SSRP1 MIER3 CBX2 CBX4 ENPP7
GH17H079746 0.8 ENCODE dbSUPER 0.4 +14.9 14858 0 CTCF CTBP1 NR2F1 MAX HNF4A NR2F2 PRDM2 ENPP7 CBX2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENPP7 on UCSC Golden Path with GeneCards custom track

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

Genes around ENPP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENPP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.

    Three dimensional structures from OCA and Proteopedia for ENPP7 Gene

neXtProt entry for ENPP7 Gene

Post-translational modifications for ENPP7 Gene

  • N-glycosylated; required for activity and transport to the plasma membrane.
  • Glycosylation at posLast=100100, posLast=121121, posLast=146146, posLast=168168, and isoforms=267
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ENPP7 Gene

Domains & Families for ENPP7 Gene

Gene Families for ENPP7 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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

Phenotypes From GWAS Catalog for ENPP7 Gene

Gene Ontology (GO) - Molecular Function for ENPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004767 sphingomyelin phosphodiesterase activity TAS,IEA --
GO:0016787 hydrolase activity IEA --
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

  • Taconic Biosciences Mouse Models for ENPP7

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENPP7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , 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
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 ENPP7 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
extracellular 1
lysosome 1
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENPP7 Gene

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:0006684 sphingomyelin metabolic process IDA 12671034
GO:0006685 sphingomyelin catabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0008156 negative regulation of DNA replication IDA 12671034
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

(5) Drugs for ENPP7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(126) Additional Compounds for ENPP7 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphorylcholine
  • Choline phosphate
  • N-Trimethyl-2-aminoethylphosphonate
  • O-Phosphocholine
  • Phosphocholine
  • Phosphoryl-choline
3616-04-4
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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENPP7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ENPP7 Gene

NURSA nuclear receptor signaling pathways regulating expression of ENPP7 Gene:

ENPP7

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.

Evidence on tissue expression from TISSUES for ENPP7 Gene

  • Liver(4.1)
  • Intestine(2.6)
genes like me logo Genes that share expression patterns with ENPP7: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.76 (n)
dog
(Canis familiaris)
Mammalia ENPP7 33 34
  • 83.79 (n)
rat
(Rattus norvegicus)
Mammalia Enpp7 33
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Enpp7 33 16 34
  • 83.25 (n)
cow
(Bos Taurus)
Mammalia ENPP7 33 34
  • 83.1 (n)
oppossum
(Monodelphis domestica)
Mammalia ENPP7 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENPP7 33 34
  • 71.96 (n)
lizard
(Anolis carolinensis)
Reptilia ENPP7 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enpp7 33
  • 64.46 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC557756 33
  • 60.76 (n)
enpp7 34 34
  • 49 (a)
OneToMany
ENPP7 (1 of 4) 34
  • 48 (a)
OneToMany
ENPP7 (4 of 4) 34
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C01B10.9 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToOne
Species where no ortholog for ENPP7 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)
  • 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

Variants for ENPP7 Gene

Sequence variations from dbSNP and Humsavar for ENPP7 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs193920826 Uncertain significance 79,731,207(+) AGCAC(C/T)GGTAC nc-transcript-variant, reference, missense
rs1000148964 -- 79,739,658(+) TCAGC(C/T)TCAAT intron-variant
rs1000338634 -- 79,740,083(+) CCAGC(A/T)ACTGG intron-variant
rs1000490194 -- 79,735,289(+) AGATG(G/T)TGCGG nc-transcript-variant, reference, missense
rs1001536163 -- 79,735,432(+) TTCCA(C/T)AAGTT nc-transcript-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv28226 CNV gain+loss 19812545
nsv952381 CNV deletion 24416366

Variation tolerance for ENPP7 Gene

Residual Variation Intolerance Score: 97.9% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 - COSMIC cancer census association via MalaCards
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 RD … Nilsson A (The Journal of biological chemistry 2003) 2 3 4 22 60
  2. Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis. (PMID: 15458386) Wu J … Duan RD (The Biochemical journal 2005) 3 4 22 60
  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 RD (Carcinogenesis 2004) 3 4 22 60
  4. Purification, localization, and expression of human intestinal alkaline sphingomyelinase. (PMID: 12671034) Duan RD … Nilsson A (Journal of lipid research 2003) 3 4 22 60
  5. Intestinal alkaline sphingomyelinase hydrolyses and inactivates platelet-activating factor by a phospholipase C activity. (PMID: 16255717) Wu J … Duan RD (The Biochemical journal 2006) 3 22 60

Products for ENPP7 Gene

Sources for ENPP7 Gene

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