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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 sphingomyelin metabolism/ceramide salvage. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for ENPP7 Gene

Promoters and enhancers for ENPP7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I079730 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 565.8 +1.2 1151 3.9 FOXA2 MLX ARID4B DMAP1 IRF4 ZNF48 ETS1 YY1 ATF7 RXRA ENPP7 GC17P079727 CBX2
GH17I079728 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.5 -2.2 -2156 1.2 ATF1 ARID4B ZNF76 ZSCAN9 YY1 ETS1 ZNF335 ELK1 ZNF143 RCOR1 GC17P079727 ENPP7
GH17I079739 Enhancer 1.4 Ensembl ENCODE dbSUPER 8.3 +11.1 11131 6 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 ZNF143 KLF7 SP3 ENPP7 CBX2
GH17I079745 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.4 +16.5 16450 3 HDGF FOXA2 SIN3A ZNF2 ZNF48 ARID2 ZNF143 RUNX3 RXRA NCOA1 CBX2 CBX4 ENPP7
GH17I079746 Enhancer 0.8 ENCODE dbSUPER 0.4 +14.9 14858 0.2 CTCF RXRA NR2F1 MAX NR2F2 PRDM2 CTBP1 HNF4A ENPP7 CBX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENPP7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENPP7 gene promoter:

Genomic Locations for ENPP7 Gene

Genomic Locations for ENPP7 Gene
chr17:79,730,919-79,742,926
(GRCh38/hg38)
Size:
12,008 bases
Orientation:
Plus strand
chr17:77,704,681-77,716,021
(GRCh37/hg19)

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 Asn100, Asn121, Asn146, posLast=168168, and Asn267

Other Protein References for ENPP7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Protein Products

  • Abcam proteins for ENPP7

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 IEA,TAS --
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

CRISPR Products

Inhibitory RNA Products

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

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 Variation AA Info Type
rs193920826 uncertain-significance, Malignant tumor of prostate 79,731,207(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000148964 -- 79,739,658(+) C/T intron_variant
rs1000338634 -- 79,740,083(+) T/A intron_variant
rs1000490194 -- 79,735,289(+) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1001536163 -- 79,735,432(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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)

Additional Variant Information 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
  • crc
- elite association - COSMIC cancer census association via MalaCards
Search ENPP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 58
  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 58
  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 58
  4. Purification, localization, and expression of human intestinal alkaline sphingomyelinase. (PMID: 12671034) Duan RD … Nilsson A (Journal of lipid research 2003) 3 4 22 58
  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 58

Products for ENPP7 Gene

Sources for ENPP7 Gene

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