CEP135
Domain
Coiled-coil domains are critical for microtubule binding via the formation of a two-stranded coiled-coil structure in homodimers.
Function
Centrosomal microtubule-binding protein involved in centriole biogenesis (PubMed:27477386). Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. 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 (PubMed:27185865).
Involvement in disease
Microcephaly 8, primary, autosomal recessive
MCPH8
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CEP135/TSGA10 family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Centriole
- During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles.
Alternative names
CEP4, KIAA0635, CEP135, Centrosomal protein of 135 kDa, Cep135, Centrosomal protein 4