KIZ
Function
Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole.
Involvement in disease
Retinitis pigmentosa 69
RP69
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation at Thr-379 by PLK1 is not needed for centrosomal localization or pericentriolar material expansion but is indispensable for spindle-pole stabilization.
Sequence Similarities
Belongs to the kizuna family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Localizes to centrosomes throughout the cell cycle. After centrosome duplication, it usually remains associated only with the mother centrosome, containing the older mature centriole and particles surrounding it. During prophase, additional particles accumulate around both separating centrosomes. Does not accumulate at the microtubule minus ends, but instead localizes to the centrosomes and centrosome-surrounding area in a microtubule-independent and dependent manner, respectively.
Alternative names
C20orf19, NCRNA00153, PLK1S1, HT013, KIZ, Centrosomal protein kizuna, Polo-like kinase 1 substrate 1