InterPro domain: IPR039893

CEP120 is a centrosomal protein required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner [ 1 ]. It has been shown to interact with SPICE1 and CPAP [ 2 ]. This entry also includes CEP120-like proteins from plants and fungi, which do not have centrosomes.

Mutations of the CEP120 gene cause short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) [ 3 ] and Joubert syndrome 31 (JBTS31) [ 4 ].

1. CEP295 interacts with microtubules and is required for centriole elongation. J. Cell. Sci. 129, 2501-13
2. CEP120 and SPICE1 cooperate with CPAP in centriole elongation. Curr. Biol. 23, 1360-6
3. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum. Mol. Genet. 24, 1410-9
4. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J. Med. Genet. 53, 608-15