Centrosomal protein of 164 kDa (UniProt: Q9UPV0; also known as Cep164) is encoded by the CEP164 (also known as KIAA1052, NPHP15) gene (Gene ID: 22897) in human. Cep164 is expressed in several cell lines and it plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Cep164 localizes specifically to very distally located appendage structures on the mature centriole from which PC formation originates and it persists at centrioles throughout mitosis. Hence, it can serve as a marker for distal appendages on mature centrioles or basal bodies. Cep164 also plays a vital role in G2/M checkpoint and nuclear divisions. It is a key participant in the DNA damage-activated ATR/ATM signaling cascade and is required for the proper phosphorylation of H2AX, replication protein A, and check point kinases 1 and 2. Its phosphorylation at Ser186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Mutations in CEP164 gene are known to cause nephronophthisis, a disease characterized by blindness in childhood, facial dysmorphism, bronchieclasis, liver failure and progression to end-stage renal failure.
Synonyms: Centrosomal protein of 164 kDa
Application: Research CategoryEpigenetics & Nuclear Function
Other Notes: Concentration: Please refer to lot specific datasheet.