Coiled-coil and C2 domain containing 1A (CC2D1A) gene codes for a signaling scaffold, which has multiple functions. It is also called Freud-1 (Five prime REpressor Under Dual repression binding protein 1), and belongs to CC2D1A gene family, which also contains the homologous gene CC2D1B/Freud-2. CC2D1A is expressed in cytosol, centrosome and nucleus and is also known as Akt kinase-interacting protein 1 (Aki1). The CC2D1A family consists of a DM14 domain, a C2 domain and two conserved motifs. CC2D1A gene is localized to the chromosomal region 19p13.12.
Synonyms: Anti-Coiled-coil and C2 domain-containing protein 1A antibody produced in rabbit; Anti-FRE under dual repression-binding protein 1 antibody produced in rabbit; Anti-Five repressor element under dual repression-binding protein 1 antibody produced in rabbit; Anti-Freud-1 antibody produced in rabbit; Anti-Putative NF-kappa-B-activating protein 023N antibody produced in rabbit
Storage: -20C
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Biochem Physiol Actions: CC2D1A (Coiled-coil and C2 domain containing 1A) protein plays an important role in nuclear factor ?B (NF-?B) pathway as well as pathways involving protein kinase B (PKB). It also mediates intracellular trafficking and neuronal differentiation. This protein has a long and a short isoform, and the long isoform is the major isoform involved in the regulation, expression and localization of the 5-HT1A receptor gene. It acts as a scaffold in the phosphoinositide 3-kinase (PI3K)/3-phosphoinositide-dependent protein kinase 1 (PDK1)/Akt pathway, when present in the cytosol. During mitosis, CC2D1A helps centriole cohesion by mediating the spindle pole localization of cohesin subunit Scc1. It also regulates cell survival by interacting with Epidermal Growth Factor (EGF), and thus inducing AKT phosphorylation. Mutations in this gene have been linked to non-syndromic mental retardation (NSMR). In humans, CC2D1A plays a supposed role in development of cognitive functions.
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