AKAP12, AKAP250, A-kinase anchor protein 12, AKAP-12, A-kinase anchor protein 250 kDa, AKAP 250, Gravin, Myasthenia gravis autoantigen
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008],caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Antibodies to the C-terminal of gravin can be produced by patients with myasthenia gravis (MG).,domain:Polybasic regions located between residues 266 and 557 are involved in binding PKC.,function:Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC).,induction:Activated by lysophosphatidylcholine (lysoPC).,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 3 AKAP domains.,subcellular location:May be part of the cortical cytoskeleton.,subunit:Binds to dimeric RII-alpha regulatory subunit of PKC.,tissue specificity:Expressed in endothelial cells, cultured fibroblasts and osteosarcoma, but not in platelets, leukocytes, monocytic cell lines or peripherical blood cells.,
