CC2D1A
Domain
The C2 domain is required for the repression.
Function
Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.
Involvement in disease
Intellectual developmental disorder, autosomal recessive 3
MRT3
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21.
Sequence Similarities
Belongs to the CC2D1 family.
Cellular localization
- Cytoplasm
- Nucleus
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
Alternative names
AKI1, LGD2, CC2D1A, Coiled-coil and C2 domain-containing protein 1A, Akt kinase-interacting protein 1, Five prime repressor element under dual repression-binding protein 1, Putative NF-kappa-B-activating protein 023N, FRE under dual repression-binding protein 1, Freud-1