Centrosomal protein 131

Centrosomal protein 131 (CEP131), also known as AZI1, is a protein that in humans is encoded by the CEP131 gene. This protein is a component of the centrosome, an organelle crucial for cell cycle regulation, cell division, and the organization of microtubules in cells. CEP131 is involved in the assembly and function of the centrosome, playing a key role in the formation of cilia and flagella, and is implicated in the cellular response to DNA damage and stress.

Function

CEP131 is essential for the proper functioning of the centrosome, serving as a scaffold for the assembly of other centrosomal proteins. It participates in the regulation of centrosome duplication and separation, processes that are critical for accurate cell division and genetic stability. Moreover, CEP131 has been identified as a component of the centriolar satellites, which are structures that surround the centrosome and are involved in protein trafficking to the centrosome and cilia. Its role in ciliogenesis—the process of cilia formation—is particularly significant, as cilia are vital for cell signaling and tissue homeostasis.

Clinical Significance

Mutations in the CEP131 gene or dysregulation of CEP131 protein levels have been associated with various human diseases. Abnormalities in centrosome and cilia function, due to defective CEP131, can lead to a range of ciliopathies, which are disorders arising from cilia dysfunction. These include certain forms of retinal degeneration, kidney disease, and obesity. Additionally, alterations in CEP131 expression have been observed in several types of cancer, suggesting a role in tumorigenesis. The precise mechanisms by which CEP131 contributes to these diseases are an active area of research, with the potential to inform new therapeutic strategies.

Genetic and Molecular Biology

The CEP131 gene is located on human chromosome 17. It encodes a protein of approximately 131 kDa, which is why it is named CEP131. The protein contains several domains that are typical of centrosomal proteins, facilitating its interaction with other centrosomal components and its involvement in centrosome-related functions. The regulation of CEP131 expression and its post-translational modifications are crucial for its activity and for maintaining cellular homeostasis.

Research Directions

Research on CEP131 continues to uncover its roles in cell biology and disease. Studies are focused on elucidating the detailed mechanisms of CEP131 in centrosome and cilia function, its interactions with other proteins, and its regulation. Understanding the pathways involving CEP131 could lead to novel approaches for treating diseases associated with centrosome and cilia dysfunction.