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MT000846

UniProt Annotations

Entry Information

Gene Name	A kinase (PRKA) anchor protein 10
Protein Entry	AKA10_HUMAN
UniProt ID	O43572
Species	Human

Comments

Comment type	Description
Disease	Sudden cardiac death (SCD) [MIM:115080]: Unexpected rapid death due to cardiovascular collapse in a short time period, generally within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death. {ECO:0000269\|PubMed:17485678}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Increased susceptibility to sudden cardiac death may be conferred by AKAP10 variants that are associated with markers of low vagus nerve sensitivity, e.g. fast basal heart rate and low heart rate variability.
Domain	RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
Function	Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity). {ECO:0000250}.
Similarity	Contains 2 RGS domains. {ECO:0000255\|PROSITE- ProRule:PRU00171}.
Subcellular Location	Mitochondrion {ECO:0000269\|PubMed:11248059}. Membrane {ECO:0000269\|PubMed:11248059}. Cytoplasm {ECO:0000269\|PubMed:11248059}. Note=Predominantly mitochondrial but also membrane associated and cytoplasmic.