Aliases for CEP57 Gene
External Ids for CEP57 Gene
Previous GeneCards Identifiers for CEP57 Gene
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. [provided by RefSeq, Aug 2011]
GeneCards Summary for CEP57 Gene
CEP57 (Centrosomal Protein 57) is a Protein Coding gene. Diseases associated with CEP57 include mosaic variegated aneuploidy syndrome 2 and mosaic variegated aneuploidy syndrome. Among its related pathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. GO annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is CEP57L1.
UniProtKB/Swiss-Prot for CEP57 Gene
Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1.