Anti-INPP5E antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

INPP5E also known as type I inositol polyphosphate-5-phosphatase plays a significant role as an enzyme regulating phosphoinositide signaling. This protein has a molecular mass of approximately 72 kDa. INPP5E cleaves the 5-phosphate from phosphoinositides affecting cellular processes. It is widely expressed in various tissues with notable presence in the brain and testis indicating its importance in these tissue types.

Biological function summary

INPP5E is involved in maintaining phosphoinositide balance within cells which regulates cellular signaling pathways. It is essential for the function of primary cilia by controlling ciliary membrane composition. This protein often interacts with components of the ciliary transition zone forming part of the complex that regulates trafficking proteins and movement.

Pathways

INPP5E engages in the phosphoinositide signaling pathway and the ciliary signaling pathway. It influences the activity of proteins such as phosphatidylinositol and adenylyl cyclase playing a role in signaling cascades that affect cell metabolism and spatial orientation. Disruption in its function can alter these signaling pathways demonstrating its importance in cellular communication and function.

Associated diseases and disorders

Studies link INPP5E to Joubert syndrome and Meckel syndrome conditions affecting ciliary function. These ciliopathies are marked by abnormal brain development and a range of other symptoms. INPP5E interacts with proteins like ARL13B and CEP290 which are also associated with these disorders highlighting its integral role in maintaining healthy ciliary architecture and function.