Rhophilin-1 (RHPN1)

Rhophilin-1 is a cytoskeletal adaptor protein encoded by the RHPN1 gene, predominantly known for its interaction with Rho GTPases[1][2][4][5]. It is highly expressed in kidney podocytes, where it regulates actin cytoskeleton dynamics required for maintaining the specialized architecture of podocyte foot processes and the integrity of the glomerular filtration barrier[1][4]. Rhophilin-1 lacks enzymatic activity but functions as a scaffold or effector by relaying or modulating Rho GTPase signaling, particularly influencing actin organization and stress fiber formation[2][4]. Its loss leads to disturbances in cytoskeletal architecture, podocyte effacement, and glomerular pathology including proteinuria and FSGS-like lesions[1]. Genetic alterations are associated with certain spermatogenic defects and rare syndromes[4]. It does not have known small molecule drug modulators or established therapeutic targeting[2][4][5].

Other names

GTP-Rho-binding protein 1KIAA1929RHPNODF5outer dense fiber of sperm tails 5RHOPHILINrhophilin Rho GTPase binding protein 1rhophilin-1