CC2D1A 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. 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. Belongs to the CC2D1 family. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Transcription factor
Chromosomal Location of Human Ortholog: 19p13.12
Cellular Component:  cytosol; fibrillar center; microtubule organizing center; plasma membrane
Molecular Function:  DNA-binding transcription repressor activity, RNA polymerase II-specific; protein binding; RNA polymerase II proximal promoter sequence-specific DNA binding
Disease: Mental Retardation, Autosomal Recessive 3
Reference #:  Q6P1N0 (UniProtKB)
Alt. Names/Synonyms: AKI1; Akt kinase-interacting protein 1; C2D1A; CC2D1A; coiled-coil and C2 domain containing 1A; Coiled-coil and C2 domain-containing protein 1A; Five prime repressor element under dual repression-binding protein 1; Five repressor element under dual repression-binding protein 1; FLJ20241; FLJ41160; FRE under dual repression-binding protein 1; Freud-1; Freud-1/Aki1; mental retardation, nonsyndromic, autosomal recessive, 3; MRT3; Putative NF-kappa-B-activating protein 023N; putative NFkB activating protein
Gene Symbols: CC2D1A
Molecular weight: 104,062 Da
Basal Isoelectric point: 8.22  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene