AKAP9
Domain
RII-binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
Function
Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697).
Isoform 4
Associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations.
Involvement in disease
Long QT syndrome 11
LQT11
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed (PubMed:10202149). Isoform 4: Highly expressed in skeletal muscle and in pancreas (PubMed:9482789).
Cellular localization
- Golgi apparatus
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasmic in parietal cells (PubMed:9915845). Recruited to the Golgi apparatus by GM130/GOLGA2 (PubMed:25657325). Localization at the centrosome versus Golgi apparatus may be cell line-dependent. In SKBr3 and HEK293F cells, exclusively located at the centrosome (PubMed:29162697). In HeLa, MDA-MB231 and RPE-1 cells, detected at the Golgi apparatus (PubMed:25217626, PubMed:29162697). In SK-BR-3 cells, recruited to the centrosome in the presence of CDK5RAP2 (PubMed:29162697).
Alternative names
AKAP350, AKAP450, KIAA0803, AKAP9, A-kinase anchor protein 9, AKAP-9, A-kinase anchor protein 350 kDa, A-kinase anchor protein 450 kDa, AKAP 120-like protein, Centrosome- and Golgi-localized PKN-associated protein, Protein hyperion, Protein kinase A-anchoring protein 9, Protein yotiao, AKAP 350, hgAKAP 350, AKAP 450, CG-NAP, PRKA9