Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | ENPP7 |
| Gene Name: | ENPP7 |
| Protein Full Name: | Ectonucleotide pyrophosphatase/phosphodiesterase f |
| Alias: | Alkaline sphingomyelin phosphodiesterase;Intestinal alkaline sphingomyelinase |
| Mass (Da): | 51494 |
| Number AA: | 458 |
| UniProt ID: | Q6UWV6 |
| Locus ID: | 339221 |
| COSMIC ID: | ENPP7 |
| Gene location on chromosome: | 17q25.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19625 |
| Percent of cancer specimens with mutations: | 0.55 |
| Normal role description: | ENPP7 is a membrane bound phosphodiesterase with specific activity to positively charged phophoslipids including sphingomyelin and lysophosphatidylcholine. ENPP7 is expressed predominantly on the apical membrane of intestinal epithelium as well as in the liver. ENPP7 can be proteolytically processed to be released into the lumen of the intestine and its activity is dependent on bile salts from the liver. ENPP7 functions primarily to hydrolyse sphingomyelin to ceramide. Ceramide can act as a signalling molecule and is antiproliferative and proapoptotic. Thus ENPP7 can act as a tumour suppressor protein. Reduction of ENPP7 activity has been observed in colon and liver cancers and enzyme activity found in feces can be used as a diagnostic tool. Alternative splice variants of ENPP7 leading to aberrant transcripts has been identified in colon and liver cancer cell lines and appears to be the main mechanism leading to ENPP7 dysfunction in cancer. |
| Commentary on involvement of protein in cancer: | Less than 3% mutation in CNS |