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: | PIK3CD |
Gene Name: | PIK3CD |
Protein Full Name: | Phosphatidylinositol-4,5-bisphosphate 3-kinase cat |
Alias: | EC 2.7.1.153; P110D; P110delta; P11D; Phosphatidylinositol 3-kinase, catalytic, delta polypeptide; Phosphoinositide-3-kinase C; Phosphoinositide-3-kinase, catalytic, delta polypeptide; PI3K; PI3K P110-delta; PI3-kinase p110 delta; PK3CD; PtdIns- 3-kinase p110; PtdIns-3-kinase p110 |
Mass (Da): | 119479 |
Number AA: | 1044 |
UniProt ID: | O00329 |
Locus ID: | 5293 |
COSMIC ID: | PIK3CD |
Gene location on chromosome: | 1p36.22 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 20505 |
Percent of cancer specimens with mutations: | 0.73 |
Normal role description: | PIK3CD is a lipid kinase which upon activation will phosphorylate phosphatidylinositol 4,5-bisphosphate (PIP2) to generate phosphatidylinositol-3,4,5-triphosphate (PIP3). PIP3 is an important signalling molecule which can recruit pleckstrin homology (PH) domain containing proteins to the cell membrane to activate signalling pathways. PIK3CD in particular can recruit and activate AKT protein serine/threonine kinases to the plasma membrane to cause increased cellular proliferation and growth. PIK3CD may also have a role in regulating immune responses as defects in PIK3CD lead to diminished T and B cell responses in vivo. PIK3CD appears to have a role in the development of cancer through constitutive activation of AKT kinases to stimulate cell growth and proliferation. PIK3CD inhibition in these systems appears to reduce AKT-mediated tumours. However, few mutations or amplifications of PIK3CD are observed in cancer. This may suggest that PIK3CD activation in cancer is through upstream members of the signalling pathway. |