CC2D1A
CC2D1A (coiled-coil and C2 domain containing 1A, also known as Freud-1, MRT3, Lgd2, TAPE and Aki-1) is a multifunctional protein of the CC2D1 family. It represses transcription of the serotonin receptor gene HTR1A in neurons and acts as a scaffold in the cytoplasm. Browse Assay Genie's current range of CC2D1A research reagents below, or read on for the biology behind the target.
CC2D1A is a transcription factor that binds specifically to the dual repressor element (DRE) and represses transcription of the HTR1A gene, which encodes the 5-hydroxytryptamine (serotonin) receptor 1A, in neuronal cells. This repression is independent of histone deacetylases (HDACs). The DNA binding and repressor activities of the protein are inhibited by calcium, and the combination of calcium and ATP specifically inactivates binding to the FRE. CC2D1A may contribute to the altered regulation of HTR1A associated with anxiety and major depression, and it performs an essential function in controlling the functional maturation of synapses.
The protein plays distinct roles depending on where it is found. In the cytoplasm it acts as a scaffold protein in the PI3K/PDK1/AKT pathway, while in the nucleus it acts as a repressor of HTR1A. At the centrosome it regulates spindle pole localisation of the cohesin subunit SCC1/RAD21, and so mediates centriole cohesion during mitosis. This range of activities makes the CC2D1A protein a useful subject for studies of neuronal gene regulation, kinase signalling and cell division.
The human CC2D1A gene belongs to the HGNC group of C2 domain containing genes, and the protein belongs to the CC2D1 family. Mouse and rat both carry an ortholog named Cc2d1a. A mutation in the gene results in a nonsyndromic form of cognitive disability, designated MRT3, which accounts for one of the alias names used in the literature. Freud-1, Lgd2, TAPE and Aki-1 are other names under which the protein has been described.
CC2D1A binds the DRE and represses HTR1A transcription in neuronal cells, independently of HDACs, and is inhibited by calcium.
The protein controls functional maturation of synapses, and a mutation in its gene causes nonsyndromic cognitive disability (MRT3).
In the cytoplasm, CC2D1A acts as a scaffold protein within the PI3K/PDK1/AKT pathway.
At the centrosome, CC2D1A directs spindle pole localisation of SCC1/RAD21 and so mediates centriole cohesion during mitosis.
CC2D1A has several roles depending on its location. In the nucleus it represses HTR1A transcription in neurons. In the cytoplasm it is a scaffold in the PI3K/PDK1/AKT pathway. At the centrosome it supports centriole cohesion in mitosis. It also controls synapse maturation.
The HGNC name is coiled-coil and C2 domain containing 1A. Aliases and previous symbols include Freud-1, MRT3, Lgd2, TAPE, Aki-1 and FLJ20241. UniProt lists the protein as coiled-coil and C2 domain-containing protein 1A, a member of the CC2D1 family.
A mutation in CC2D1A causes a nonsyndromic form of cognitive disability, MRT3. It may also relate to altered HTR1A regulation in anxiety and major depression. Mouse and rat each have a Cc2d1a ortholog; check the datasheet of any product for its validated reactivity.
Other coiled-coil domain proteins and cell cycle regulators with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q6P1N0; product specifications from Assay Genie datasheets.