PCNT
Domain
Composed of a coiled-coil central region flanked by non-helical N- and C-terminals.
Function
Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome.
Involvement in disease
Microcephalic osteodysplastic primordial dwarfism 2
MOPD2
Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Cleaved during mitotis which leads to removal of CDK5RAP2 from the centrosome and promotes centriole disengagement and subsequent centriole separation (PubMed:22722493, PubMed:25503564). The C-terminal fragment is rapidly degraded following cleavage (PubMed:22722493).
Ubiquitinated by TRIM43; leading to proteasomal degradation.
Tissue Specificity
Expressed in all tissues tested, including placenta, liver, kidney and thymus.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Colocalized with DISC1 at the centrosome.
Alternative names
KIAA0402, PCNT2, PCNT, Pericentrin, Kendrin, Pericentrin-B