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Cep57 is a mitotic kinetochore component that links the function of the KMN (KNL1/Mis12 complex/Ndc80 complex) network and spindle assembly checkpoint via Mis12 binding and Mad1-Mad2 interaction.
We identified copy number variation (CNV) deletion impacting the exon sequences of CEP57L1, present in the affected mother and her affected daughter
Cep57, Cep63, and Cep152 are parts of a ring-like complex localizing around the proximal end of centrioles.
Cep57 is essential for cytokinesis via regulation of central spindle assembly and formation of the midbody
Data suggest for therapeutic targeting of the FGF-2/FGFR1/CEP57 axis in prostate cancer.
Cep57 acts as a PCM component through binding to NEDD1 and is required for spindle microtubule organization and maintenance of spindle pole integrity.
Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.
This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.
, centrosomal protein 57kDa
, cep57-related protein
, Cep57-related protein
, Centrosomal protein of 57 kDa
, centrosomal protein of 57 kDa-like
, centrosomal protein of 57 kDa
, testis-specific protein 57
, FGF2-interacting protein
, proliferation-inducing protein 8