ADAMTS1 Gene: Function, Expression, and Disease Associations

ADAMTS1 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which contains a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TSP1) repeat. This secreted protease plays a role in extracellular matrix remodeling, angiogenesis, and inflammation. It can cleave the proteoglycans aggrecan and versican, and its anti-angiogenic activity is mediated through the TSP1 domain. ADAMTS1 is involved in various physiological and pathological processes, including cancer, arthritis, and cardiovascular disease.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• ECM proteoglycans

• ADAMTS-mediated cleavage of versican

• Aggrecan metabolism in cartilage

ADAMTS1 is a secreted metalloproteinase that contains a signal peptide, a prodomain, a catalytic metalloproteinase domain, a disintegrin-like domain, a central thrombospondin type 1 (TSP1) repeat, a cysteine-rich domain, and a spacer region. The mature enzyme is activated upon furin-mediated cleavage of the prodomain. It cleaves extracellular matrix components such as aggrecan and versican, and exhibits anti-angiogenic properties via its TSP1 domain. The protein is involved in tissue remodeling, inflammation, and tumor progression.