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: | PLCB1 |
Gene Name: | PLCB1 |
Protein Full Name: | 1-phosphatidylinositol-4,5-bisphosphate phosphodie |
Alias: | 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 1; KIAA0581; Phosphoinositide phospholipase C; Phosphoinositide-specific; Phospholipase C, beta 1; Phospholipase C-beta-1; PIB1; PLC154; PLC-154; PLC-beta1; PLC-beta-1; PLC-I |
Mass (Da): | 138567 |
Number AA: | 1216 |
UniProt ID: | Q9NQ66 |
Locus ID: | 23236 |
COSMIC ID: | PLCB1 |
Gene location on chromosome: | 20p12.3 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19902 |
Percent of cancer specimens with mutations: | 1.95 |
Normal role description: | PLCB1 is a phospholipase that catalyzes the formation of inositol 1,4,5-trisphosphate(IP3) and diacylglycerol (DAG) from phosphatidylinositol 4,5-bisphosphate (PIP2). Mutations in this gene have been found in mouth, breast, lung, ovarian, and skin tumors. Monoallelic loss (via deletion) in has been found in acute myeloid leukemia and negatively correlates with prognosis. |