A-kinase anchor protein 12; A-kinase anchor protein 250 kDa; AKAP 250; gravin; myasthenia gravis autoantigen (AKAP12, AKAP250)

Function

• anchoring protein
• mediates compartmentalization of protein kinase A & protein kinase C
• phosphorylated upon DNA damage, probably by ATM or ATR
• binds to dimeric RII-alpha regulatory subunit of PKC

Structure

• polybasic regions located between residues 266 & 557 are involved in binding PKC
• contains 3 AKAP domains

Compartment

• cytoplasm, cell cortex (probable)
• cytoplasm, cytoskeleton (probable)
• may be part of the cortical cytoskeleton

Alternative splicing

named isoforms=3

Expression

• expressed in endothelial cells, cultured fibroblasts & osteosarcoma
• not expressed in platelets, leukocytes, monocytic cell lines or peripherical blood cells
• expression induced by lysophosphatidylcholine (lysoPC)

Pathology

• antibodies to C terminal portion seen in myasthenia gravis

More general terms

• cytoskeletal protein
• phosphoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/Q02952.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9590
• OMIM: https://mirror.omim.org/entry/604698