CEP63

CEP63 is a protein that in humans is encoded by the CEP63 gene. This protein is a member of the centrosomal protein family, playing a crucial role in centrosome duplication during the cell cycle. The centrosome is a key cellular structure acting as a major microtubule-organizing center, and it is vital for the formation of the spindle apparatus during mitosis and meiosis. Proper centrosome duplication is essential for genome stability and is tightly regulated to occur only once per cell cycle.

Function

CEP63 is involved in the early stages of centrosome duplication. It forms a complex with another centrosomal protein, CEP152, to initiate centrosome duplication. This interaction is critical for the recruitment of PLK4, a protein kinase that phosphorylates CEP152, promoting centrosome maturation and subsequent duplication. CEP63 also plays a role in ensuring the correct number of centrosomes are present in the cell, preventing aneuploidy and cancer development.

Clinical Significance

Mutations in the CEP63 gene have been associated with Seckel syndrome, a rare genetic disorder characterized by growth retardation, microcephaly, and developmental delay. This association underscores the importance of CEP63 in DNA replication and cell division, as defects in these processes can lead to severe developmental abnormalities.

Gene

The CEP63 gene is located on human chromosome 3q22.3. It consists of multiple exons and encodes a protein of approximately 63 kDa, which localizes to the centrosome. The gene is expressed in various tissues, with higher expression levels observed in proliferating cells, reflecting its role in cell division.

Interaction

Besides CEP152, CEP63 interacts with several other proteins involved in centrosome function and cell cycle regulation. These interactions are crucial for the proper assembly and disassembly of the centrosome components, ensuring accurate cell division. Disruption of these interactions can lead to centrosome amplification, a hallmark of many cancer types.

Research Directions

Ongoing research aims to further elucidate the molecular mechanisms by which CEP63 regulates centrosome duplication and its implications in human diseases. Understanding the precise role of CEP63 in cell cycle regulation may lead to the development of novel therapeutic strategies for cancers and genetic disorders associated with centrosome dysfunction.