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A-kinase anchor protein 9; AKAP-9; A-kinase anchor protein 350 kD; AKAP 350; hgAKAP 350; A-kinase anchor protein 450 kD; AKAP 450; AKAP 120-like protein; centrosome- & Golgi-localized PKN-associated protein; CG-NAP; protein hyperion; protein kinase A-anchoring protein 9; PRKA9; protein yotiao (AKAP9 AKAP350 AKAP450 KIAA0803)
Function:
- binds to protein kinase A type II regulatory subunits
- scaffolding protein that assembles several protein kinases & phosphatases on the centrosome & Golgi apparatus
- may be required to maintain the integrity of the Golgi
- isoform 4 is associated with the N-methyl-D-aspartate receptor & is specifically found in the neuromuscular junction as well as in neuronal synapses, suggesting a role in organization of postsynaptic specializations
- phosphorylated upon DNA damage, probably by ATM or ATR
- interacts with the regulatory region of protein kinase N (PKN), protein phosphatase 2A (PP2A), protein phosphatase 1 (PP1) & the immature non-phosphorylated form of PKC epsilon
- interacts with CIP4 & FNBP1
- interacts with chloride intracellular channel proteins CLIC1, CLIC4 & CLIC5
Structure:
- PKA RII-binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the PKA-R-subunit dimer
Compartment:
- cytoplasm. cytoplasm, cytoskeleton, centrosome
- Golgi
- cytoplasmic in parietal cells
Alternative splicing: named isoforms=6
Expression:
- widely expressed
- isoform 4 is highly expressed in skeletal muscle & in pancreas
Pathology:
- defects in AKAP9 are the cause of long QT syndrome type 11
Related
protein kinase A
General
A-kinase anchor protein
cytoskeletal protein
phosphoprotein
Properties
SIZE: entity length = 3911 aa
MW = 454 kD
COMPARTMENT: cytoplasm
golgi
MOTIF: coiled coil {164-914}
MOTIF: Ser phosphorylation site {S165}
glutamine-rich region {203-292}
MOTIF: glutamine residue (SEVERAL)
glutamate-rich region {321-1010}
MOTIF: glutamate residue (SEVERAL)
coiled coil {944-1022}
coiled coil {1100-1185}
coiled coil {1253-1280}
coiled coil {1336-1392}
coiled coil {1434-1459}
coiled coil {1585-1659}
glutamate-rich region {1846-2772}
MOTIF: glutamate residue (SEVERAL)
coiled coil {1857-2455}
coiled coil {2544-2561}
PKA-RII subunit binding {2554-2567}
coiled coil {2603-2776}
coiled coil {3065-3092}
coiled coil {3124-3470}
coiled coil {3587-3689}
Ser phosphorylation site {S3846}
Ser phosphorylation site {S3869}
Database Correlations
OMIM correlations
MORBIDMAP 604001
UniProt Q99996
Pfam PF10495
Entrez Gene 10142
Kegg hsa:10142
References
- UniProt :accession Q99996
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/AKAP9ID42999ch7q21.html