Ankyrin repeat and FYVE domain containing 1 (ANKFY1)

Ankyrin repeat and FYVE domain containing 1 (ANKFY1) is a cytoplasmic protein characterized by a coiled-coil structure, a BTB/POZ domain at the N-terminus, multiple ankyrin repeats, and a FYVE-finger domain at the C-terminus[1][3][5]. As a Rab5 effector binding phosphatidylinositol 3-phosphate (PI(3)P) through its FYVE domain, ANKFY1 localizes to early endosomes and is essential for their formation and function[4]. It regulates intracellular trafficking and receptor trafficking, as demonstrated in endothelial cells where its depletion reduces surface expression of VEGF receptor 2, impairing downstream signaling important for cell proliferation and migration[1]. In neurons, particularly cerebellar Purkinje cells, ANKFY1 is necessary for cell maintenance, and its loss in mice leads to Purkinje cell degeneration and motor dysfunction, suggesting involvement in neurodegenerative processes[2]. Alternative splicing generates multiple transcript variants. Currently, ANKFY1 is not recognized as a direct drug target or therapeutic receptor, but its roles in cell trafficking and neurodegeneration continue to be areas of study[1][2][5].

Other names

ZFYVE14ANKHZNBTBD23ankyrin repeat and FYVE domain containing 1