ADAMTSL1

ADAMTSL1 Full Name

ADAMTS-like 1

ADAMTSL1 Introduction

ADAMTSL1 (ADAMTS-like protein 1), also known as punctin-1, is a secreted glycoprotein belonging to the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) superfamily. The gene encoding ADAMTSL1 is located on human chromosome 9p22.2-p22.1 and produces a large protein precursor of approximately 1,762 amino acids. Unlike most ADAMTS family members, ADAMTSL1 lacks the metalloprotease and disintegrin-like domains that are typical of the family, rendering it proteolytically inactive. Instead, it functions primarily as an extracellular matrix (ECM) component involved in matrix organization, cell signaling regulation, and tissue homeostasis. ADAMTSL1 is evolutionarily conserved, with orthologs identified in mice and other mammals, indicating its fundamental biological importance.

Figure 1. Strcuture of ADAMTSL1.

Tissue Expression and Cellular Localization
ADAMTSL1 is expressed in a variety of human tissues, with the highest expression levels observed in adult skeletal muscle, endometrium, prostate, and cultured fibroblasts. In mice, Adamtsl1 shows broad expression in bladder, limb, and other tissues, suggesting its involvement in multiple physiological processes. The protein is secreted into the extracellular space and localizes to the extracellular matrix, where it associates with collagen-containing ECM structures. Within the cell, ADAMTSL1 is processed through the endoplasmic reticulum and Golgi apparatus, where its glycosylation occurs. Alternative splicing generates multiple transcript variants encoding distinct protein isoforms, with at least eight spliced variants identified, adding to the functional complexity of this gene.

Biological Functions in the Extracellular Matrix
As a secreted ECM protein, ADAMTSL1 plays important roles in extracellular matrix organization and maintenance. Studies have shown that ADAMTSL1 is involved in skeletal muscle regeneration and contributes to the proper structure and function of muscle tissue. Importantly, ADAMTSL1 has been identified as a component of the TGF-β-ECM-sequestering complex, where it likely functions as a positive regulator of TGF-β signaling pathway activity. TGF-β is a critical cytokine involved in cell growth, differentiation, and tissue repair, and its regulation by ECM proteins like ADAMTSL1 highlights the importance of this protein in cellular signaling. In mice, Adamtsl1 is predicted to be involved in extracellular matrix organization, consistent with its structural features and ECM localization.

Alternate Names for ADAMTSL1

ADAMTSL1; ADAMTS-like 1; C9orf94, chromosome 9 open reading frame 94; ADAMTS-like protein 1; ADAMTSR1; FLJ35283; punctin; punctin-1; ADAM-TS related protein 1; C9orf94; PUNCTIN; ADAMTSL-1; FLJ41032; FLJ46891; MGC40193; MGC118803; MGC118805; DKFZp686L03130;

View more