2024年12月25日 · INPP5E (Inositol Polyphosphate-5-Phosphatase E) is a Protein Coding gene. Diseases associated with INPP5E include Joubert Syndrome 1 and Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Metabolism.

2025年2月9日 · INPP5E localizes to centrosomes, chromosomes, and kinetochores in early mitosis and shuttles to the midzone spindle at mitotic exit. INPP5E is an essential point of convergence between Hedgehog and phosphoinositide signaling at cilia that maintains transition zone function and Hedgehog-dependent embryonic development.

INPP5E is a phosphatidylinositol (3,4,5)-trisphosphate (PtdInsP3) and phosphatidylinositol 4,5-bisphosphate 5-phosphatase. Its intracellular localization is the primary cilium, a small organelle involved in signal transduction. INPP5E plays a role in hydrolyzing PtdInsP3 produced in response to various growth factors such as PDGF.

Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and …

2009年8月9日 · INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. These data link PtdIns signaling to...

INPP5E is an inositol polyphosphate 5-phosphatase with a specific affinity for lipid substrates (Dyson et al., 2012). As a lipid signaling molecule, INPP5E regulates many cellular processes, including vesicle trafficking, cytoskeletal dynamics, protein synthesis, proliferation, and survival (Ooms et al., 2009). Here, we detailed summarize the ...

2025年1月4日 · we identify Inpp5e as an essential inhibitor of the PI3K/Akt/mTORC1 signaling axis in renal epithelial cells, and demonstrate a critical role for Inpp5e-dependent mTORC1 regulation in Polycystic kidney disease (PKD) suppression

该基因编码的蛋白质是肌醇 1,4,5-三磷酸 (InsP3) 5-磷酸酶。 InsP3 5-磷酸酶水解 Ins (1,4,5) P3，动员细胞内钙并作为第二信使介导细胞对各种刺激的反应。 对小鼠对应物的研究表明，这种蛋白质可以水解细胞质高尔基体膜上的磷脂酰肌醇 3,4,5-三磷酸和磷脂酰肌醇 3,5-二磷酸，从而调节高尔基体囊泡运输。 该基因的突变会导致 Joubert 综合征；一组临床和遗传异质性疾病，其特征是中脑-后脑畸形和各种相关的纤毛病，包括视网膜营养不良、肾炎、肝纤维化和多指畸形。 …

2025年1月1日 · This review integrates recent findings on the role of INPP5E in regulating cellular function, development, and the pathogenesis of various human disorders, emphasizing the molecular mechanism by which INPP5E regulates primary cilia assembly and function and critical signaling pathways.

2024年10月6日 · The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic hedgehog signaling. Schembs L, Willems A, Hasenpusch-Theil K, Cooper JD, Whiting K, Burr K, Bøstrand SMK, Selvaraj BT, Chandran S, Theil TSchembs L, et al .