Ube3a

Enables transcription coactivator activity and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of TORC1 signaling; positive regulation of Golgi lumen acidification; and proteasome-mediated ubiquitin-dependent protein catabolic process. Acts upstream of or within several processes, including androgen receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and reproductive structure development. Located in cytosol and nucleus. Is active in glutamatergic synapse; postsynaptic cytosol; and synaptic vesicle. Is expressed in several structures, including central nervous system; radius; and retina. Used to study Angelman syndrome. Human ortholog(s) of this gene implicated in Angelman syndrome. Orthologous to human UBE3A (ubiquitin protein ligase E3A). [provided by Alliance of Genome Resources, Nov 2024]

此基因激活转录共激活因子活性和泛素蛋白连接酶活性。参与多种过程，包括对TORC1信号通路的负向调控；对高尔基体腔酸化的正向调控；以及由蛋白酶体介导的泛素依赖性蛋白质分解代谢过程。在包括雄激素受体信号通路；磷脂酰肌醇3激酶/蛋白激酶B信号转导的正向调控；以及生殖结构发育等过程中发挥上游或内部作用。位于细胞质和细胞核内。在谷氨酸能突触；突触后细胞质；以及突触小泡中具有活性。表达于中枢神经系统；桡骨；和视网膜等结构中。用于研究安杰曼综合症。该基因的人类同源基因与安杰曼综合症有关。与人类UBE3A（泛素蛋白连接酶E3A）同源。[由基因组资源联盟提供，2024年11月]