Cep57 Gene Search Result

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4 records found for search term Cep57

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1602500	CEP57	centrosomal protein 57	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 n ... (more) ucleating, 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]	11	95790014	95832693	Human	242	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
16553670	AC009961.2	centrosomal protein 57kDa (CEP57) pseudogene					Human		name	gene, processed_pseudogene
1347020	CEP57L1	centrosomal protein 57 like 1	Enables identical protein binding activity. Predicted to be located in cytoplasm; microtubule; and microtubule organizing center. Predicted to be active in centrosome. [provided by Alliance of Genome Resources, Jul 2025]	6	109095163	109174418	Human	57	symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol	gene, protein-coding, VALIDATED [RefSeq]
1322775	CEP57L1P1	centrosomal protein 57 like 1 pseudogene 1		10	70389366	70390166	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]