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: | AKAP9 |
| Gene Name: | AKAP9 |
| Protein Full Name: | A-kinase anchor protein 9 |
| Alias: | AKAP 120-like protein; AKAP 350; AKAP 450; AKAP120-like protein; AKAP350; AKAP450; AKAP9-BRAF fusion protein; A-kinase (PRKA) anchor protein (yotiao) 9; A-kinase anchor protein 350 kDa; A-kinase anchor protein 450 kDa; A-kinase anchor protein, 350kDa; A-kinase anchoring protein 450; Centrosome- and Golgi-localized PKN-associated protein; Centrosome- and golgi-localized protein; CG-NAP; HgAKAP 350; HYPERION; Hyperion protein; KIAA0803; Kinase N-associated protein; MU-RMS-40.16A; PRKA9; Protein kinase A anchoring protein 9; YOTIAO; Yotiao protein |
| Mass (Da): | 453667 |
| Number AA: | 3911 |
| UniProt ID: | Q99996 |
| Locus ID: | 10142 |
| COSMIC ID: | AKAP9 |
| Gene location on chromosome: | 7q21.2 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20354 |
| Percent of cancer specimens with mutations: | 2.79 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations and 3 insertions across entire protein, but no complex mutations or deletions. |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | AKAP9-BRAF fusion inv(7)(q21q34) |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | AKAP9 is a scaffolding protein that binds to several kinases and phosphatases such as the type II regulatory subunit of PKA and protein phosphatase 1. It may also play a role in maintaining the integrity of the Golgi apparatus and organizing certain postsynaptic specializations in the neuromuscular junction and neuronal synpases. Defects in AKAP9 has been associated with long QT syndrome. It has been noted to be upregulated in certain cancers such as liver, ovarian, and malignant melanoma. Fusion with the BRAF gene via an inversion rearrangement of the chromosome results in a protein with a kinase domain lacking an autoinhibitory domain, thus having elevated kinase activity. The fusion product has been associated with thyroid cancer via activation of the MAPK pathway |