Human Gene ENPP7 (ENST00000328313.10) from GENCODE V44
Description: Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA. (from RefSeq NM_178543) RefSeq Summary (NM_178543): 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]. Gencode Transcript: ENST00000328313.10 Gencode Gene: ENSG00000182156.10 Transcript (Including UTRs) Position: hg38 chr17:79,730,943-79,742,219 Size: 11,277 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr17:79,731,140-79,738,046 Size: 6,907 Coding Exon Count: 5
ID:ENPP7_HUMAN DESCRIPTION: RecName: Full=Ectonucleotide pyrophosphatase/phosphodiesterase family member 7; Short=E-NPP 7; Short=NPP-7; EC=3.1.4.12; AltName: Full=Alkaline sphingomyelin phosphodiesterase; AltName: Full=Intestinal alkaline sphingomyelinase; Short=Alk-SMase; Flags: Precursor; FUNCTION: Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity. CATALYTIC ACTIVITY: Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine. ENZYME REGULATION: Inhibited in a dose dependent manner by ATP, imidazole, orthovanadate and zinc ion. Not inhibited by ADP, AMP and EDTA. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). 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. 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. PTM: N-glycosylated; required for activity and transport to the plasma membrane. MISCELLANEOUS: Decreased levels of alkaline sphingomyelin phosphodiesterase may be associated with colon cancer. SIMILARITY: Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ENPP7ID44055ch17q25.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01663 - Type I phosphodiesterase / nucleotide pyrophosphatase
ModBase Predicted Comparative 3D Structure on Q6UWV6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006684 sphingomyelin metabolic process GO:0006685 sphingomyelin catabolic process GO:0006687 glycosphingolipid metabolic process GO:0008152 metabolic process GO:0008156 negative regulation of DNA replication GO:0008285 negative regulation of cell proliferation
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