This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Function:
Required for normal spindle assembly. Maintains centrosome numbers through centrosomal recruitment of CEP152. Also recruits CDK1 to centrosomes. Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (By similarity).
Subunit:
Interacts with CEP152 and CDK1; these interactions recruit both ligands to centrosomes. May also interact with CDK2.
Subcellular Location:
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with CEP152 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles.
DISEASE:
Seckel syndrome 6 (SCKL6) [MIM:614728]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the CEP63 family.
SWISS:
Q96MT8
Gene ID:
80254
Database links:
Entrez Gene: 80254 Human
Omim: 614724 Human
SwissProt: Q96MT8 Human
Unigene: 443301 Human
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