Aliases for AKAP7 Gene
External Ids for AKAP7 Gene
Previous GeneCards Identifiers for AKAP7 Gene
This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
GeneCards Summary for AKAP7 Gene
AKAP7 (A-Kinase Anchoring Protein 7) is a Protein Coding gene. Diseases associated with AKAP7 include Noonan Syndrome 2 and Febrile Seizures, Familial, 7. Among its related pathways are Signal transduction_PKA signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include nucleotide binding and protein kinase A binding. An important paralog of this gene is AKAIN1.
UniProtKB/Swiss-Prot Summary for AKAP7 Gene
Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium.
Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium.