AKAP5
Description
The AKAP5 (A-kinase anchoring protein 5) is a protein-coding gene located on chromosome 14.
AKAP5 (A-kinase anchor protein 5) is a protein encoded by the AKAP5 gene in humans. It belongs to the family of A-kinase anchor proteins (AKAPs), which bind to the regulatory subunit of protein kinase A (PKA) and localize the enzyme to specific cellular compartments. AKAP5 binds to the RII-beta regulatory subunit of PKA, as well as protein kinase C and the phosphatase calcineurin. It is predominantly expressed in the cerebral cortex and may anchor PKA at postsynaptic densities (PSD), influencing postsynaptic events. It is also found in T lymphocytes, where it might inhibit interleukin 2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. AKAP5 interacts with calcineurin and GABRB3.
AKAP5 acts as a scaffold protein, anchoring PKA to cellular structures like cytoskeletons and organelles. This directs cAMP signaling to specific intracellular targets. It interacts with the beta2-adrenergic receptor (beta2-AR), regulating its signaling pathway and modulating PKA activation. AKAP5 also contributes to long-term synaptic potentiation by managing protein trafficking from dendritic recycling endosomes to the plasma membrane, influencing both structural and functional plasticity at excitatory synapses.
AKAP5 is also known as AKAP75, AKAP79, H21.
Associated Diseases
- hyperinsulinism due to INSR deficiency
- type 2 diabetes mellitus
- hyperinsulinism due to glucokinase deficiency
- exercise-induced hyperinsulinism
- type 1 diabetes mellitus
- diabetes mellitus, transient neonatal, 2
- hyperinsulinemic hypoglycemia, familial, 2
- islet cell adenomatosis
- hyperinsulinemic hypoglycemia, familial, 1
- renal cysts and diabetes syndrome
- hyperinsulinism-hyperammonemia syndrome
- GCGR-related hyperglucagonemia
