CC2D1A
Description
The CC2D1A (coiled-coil and C2 domain containing 1A) is a protein-coding gene located on chromosome 19.
Coiled-coil and C2 domain-containing protein 1A (CC2D1A) is a protein that is encoded by the CC2D1A gene in humans. It plays a role in various cellular processes, including transcription regulation, synapse maturation, and centrosome function.
CC2D1A is a transcription factor that specifically binds to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. Its binding to the FRE (Five prime repressor element under dual repression) is specifically inactivated by a combination of calcium and ATP. This protein may play a role in the altered regulation of HTR1A associated with anxiety and major depression. It mediates HDAC-independent repression of the HTR1A promoter in neuronal cells. CC2D1A is essential for controlling the functional maturation of synapses (by similarity). It plays distinct roles depending on its localization: when cytoplasmic, it acts as a scaffold protein in the PI3K/PDK1/AKT pathway; when nuclear, it represses HTR1A; and when located in the centrosome, it regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.
CC2D1A is also known as Aki-1, FREUD-1, Freud-1/Aki1, Lgd2, MRT3, TAPE.
