KNL1
Description
The KNL1 (kinetochore scaffold 1) is a protein-coding gene located on chromosome 15.
KNL1 (kinetochore scaffold 1, aka CASC5) is a protein encoded by the KNL1 gene in humans. It is located in the outer kinetochore and is part of the KMN network of proteins along with MIS12 and NDC80. KNL1 plays a role in microtubule attachment to chromosome centromeres and activates the spindle checkpoint during mitosis. The CASC5 gene is upregulated in areas of cell proliferation surrounding the ventricles during fetal brain development. CASC5 interacts with MIS12, BUB1, BUBR1, and ZWINT-1. Homozygous polymorphisms in the CASC5 gene have been observed in patients with autosomal recessive primary microcephaly (MCPH). The mutation results in the skipping of exon 18 transcription, causing a frameshift and producing a truncated protein. This truncation inhibits the binding ability of MIS12.
KNL1 is also known as AF15Q14, CASC5, CT29, D40, MCPH4, PPP1R55, Spc7, hKNL-1, hSpc105.
