Obscurin-like cytoskeletal adaptor 1 (OBSL1)

Obscurin-like cytoskeletal adaptor 1 (OBSL1) is a large, multi-domain cytoskeletal adaptor protein that plays a critical role in linking the internal cytoskeleton of cells to the cell membrane and organizing cellular architecture[1][5]. It is broadly expressed and localizes to structures such as intercalated discs, Z lines, and perinuclear regions, especially in muscle cells, where it helps stabilize contacts among cytoskeletal networks and membrane-bound complexes[1]. OBSL1 contains multiple immunoglobulin-like domains and a central fibronectin type 3 domain, enabling extensive protein-protein interactions that support cellular and tissue structural integrity[1][5]. Functionally, OBSL1 is a core component of the 3M complex, regulating microtubule dynamics, genome maintenance, and the Cul7-based E3 ubiquitin ligase pathway involved in protein turnover and Golgi organization[2][4]. Germline mutations in OBSL1 cause 3-M syndrome, a rare disorder of skeletal growth and development, highlighting its importance in growth hormone response pathways[4][5]. OBSL1 is not recognized as a therapeutic target, nor are there drugs or clinical biomarkers related to it at present.

Other names

OBSL1obscurin-like protein 1KIAA0657obscurin like 1