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: | PLCE1 |
| Gene Name: | PLCE1 |
| Protein Full Name: | 1-phosphatidylinositol-4,5-bisphosphate phosphodie |
| Alias: | KIAA1516; Nephrosis type 3; NPHS3; Pancreas-enriched phospholipase C; Phosphoinositide-specific phospholipase C epsilon-1; Phospholipase C, epsilon 1; PLCE; PLC-epsilon-1 |
| Mass (Da): | 258710 |
| Number AA: | 2302 |
| UniProt ID: | Q9P212 |
| Locus ID: | 51196 |
| COSMIC ID: | PLCE1 |
| Gene location on chromosome: | 10q23.33 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 19718 |
| Percent of cancer specimens with mutations: | 1.67 |
| Normal role description: | PLCE1 is a member of the phospholipase family responsible for catalyzing the hydrolysis of polyphosphoinositides such as phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) to the second messengers Ins(1,4,5)P3 and diacylglycerol. It also regulates small GTPases of the Ras and Rho families, such as RhoA, HRAS, RAP1A, RAP2A/B and RRAS, through its Ras guanine-exchange factor activity. In this way, PLCE1 is thought to play an important role in cell survival and growth, as well as in actin organization, and in the activation of T-cells. Defects in the gene are the cause of nephrotic syndrome type 3, a disease of the kidney glomerular filter, leading to hypoalbuminemia, proteinuria, and edema. Non-synonymous SNP's of the gene have been associated with gastric cardia adenocarcinoma and esophageal squamous cell carcinoma, and it has been reported that it functions an oncogene in a number of cancer through a variety of mechanisms such as inflammation, Ras-activation, and enhanced angiogenesis. However, it has also been found to possibly function as a tumour suppressor in sporadic colorectal cancer. |
| Commentary on involvement of protein in cancer: | 1 pharyngeal sample was also mutated (mis-sense); only 1 liver- and 2 ovarian tumour samples were included in Sanger COSMIC |