centrosomal protein of 57 kD; Cep57; FGF2-interacting protein; testis-specific protein 57; translokin (CEP57, KIAA0092, TSP57)

Function

• centrosomal protein
• may be required for microtubule attachment to centrosomes
• may act by forming ring-like structures around microtubules
• mediates nuclear translocation & mitogenic activity of the internalized growth factor FGF2 (putative)
• interacts with microtubules
• interacts with FGF2 & RAP80
• does not interact with FGF1 or FGF2 isoform 24 kD

Structure

• homodimer & homooligomer
• the C-terminal region mediates interaction with microtubules & is able to nucleate & bundles microtubules in vitro (putative)
• the centrosome localization domain (CLD) region mediates the localization to centrosomes & homooligomerization
• belongs to the translokin family

Compartment

• nucleus (putative)
• cytoplasm, cytoskeleton, centrosome

Alternative splicing

named isoforms=4

Expression

ubiquitous

Pathology

• defects in CEP57 are the cause of mosaic variegated aneuploidy syndrome type 2

More general terms

• centrosomal protein
• nuclear protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9702
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:9702
• OMIM: https://mirror.omim.org/entry/607951
• OMIM: https://mirror.omim.org/entry/614114
• UniProt: http://www.uniprot.org/uniprot/Q86XR8.html