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: | GNA11 |
Gene Name: | GNA11 |
Protein Full Name: | Guanine nucleotide-binding protein subunit alpha-1 |
Alias: | Alpha-11; GA11; Guanine nucleotide-binding protein G(y) subunit alpha |
Mass (Da): | 42123 |
Number AA: | 359 |
UniProt ID: | P29992 |
Locus ID: | 2767 |
COSMIC ID: | GNA11 |
Gene location on chromosome: | 19p13.3 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 23738 |
Percent of cancer specimens with mutations: | 1.49 |
General distribution of mutations: | Narrow |
Location of most mutations: | One major site of point mutations (AA 209), with no insertions, deletions or complex mutations. |
Commonly recorded point mutations: | Q209L (261); |
Normal role description: | GNA11 is a GPCR. It activates phospholipase C beta, MAPK kinase, and RhoA signalling. It is also involved in many regulatory functions. Mutations are suspected to be early in oncogenesis and facilitate cancer proliferation. |
Commentary on involvement of protein in cancer: | Reduced expression of GNA11 is found in breast cancer. Activating mutations not found in breast cancer. Mice injected with mutatant GNA11 developed tumors. Q209 is located in the GTP binding site. |