| Full Name | Kinetochore Scaffold 1 (Spc105) |
|---|---|
| Chromosomal Location | 2p24.2 |
| NCBI Gene ID | 83707 |
| OMIM | 612186 |
| Ensembl ID | ENSG00000137812 |
| UniProt ID | Q8NG66 |
| Protein | KNL1 protein (Spc105) |
| Associated Diseases | Cancer (multiple types), Mosaic Variegated Aneuploidy syndrome |
BUB1 is a human gene whose product kNL1 (also known as Spc105 in yeast) is a fundamental kinetochore scaffold protein that links microtubules to centromeric chromatin and activates the spindle assembly checkpoint[1]. It serves as a platform for multiple signaling pathways essential for accurate chromosome segregation. Variants in BUB1 have been implicated in Cancer, Neurodegeneration. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
KNL1 (also known as Spc105 in yeast) is a fundamental kinetochore scaffold protein that links microtubules to centromeric chromatin and activates the spindle assembly checkpoint[1:1]. It serves as a platform for multiple signaling pathways essential for accurate chromosome segregation.
KNL1 contains multiple functional motifs:
KNL1 is expressed in proliferating cells:
Brain expression:
Cheeseman IM, et al. KNL1 function at kinetochore. Cell. 2006. ↩︎ ↩︎
DeLuca JG, et al. KNL1 and NDC80 recruitment. Nat Cell Biol. 2006. ↩︎
London N, et al. KNL1 MELT motifs and checkpoint. Nat Cell Biol. 2012. ↩︎
Nishino T, et al. KNL1 and CENP-A. Nat Struct Mol Biol. 2013. ↩︎
Barisic M, et al. KNL1 and dynein recruitment. Nature. 2014. ↩︎
Yamagishi Y, et al. KNL1 phosphorylation cascade. Nat Cell Biol. 2012. ↩︎
Singh N, et al. KNL1 in cancer. Oncotarget. 2014. ↩︎
Holland AJ, et al. Chromosomal instability. Nat Rev Cancer. 2014. ↩︎
Bakhoum SF, et al. Targeting mitotic checkpoint. Nat Rev Cancer. 2009. ↩︎
Yang Z, et al. Aneuploidy in neurodegeneration. Trends Neurosci. 2001. ↩︎
Baker DJ, et al. Aging and aneuploidy. Nat Rev Cancer. 2014. ↩︎
O'Brien MJ, et al. Cell cycle regulation of KNL1. J Cell Sci. 2015. ↩︎
Khodjakov A, et al. Anti-mitotic strategies. Nat Rev Cancer. 2004. ↩︎
Zhang G, et al. KNL1 as biomarker. Clin Cancer Res. 2015. ↩︎
Dumont M, et al. Combination mitotic therapy. Cell Cycle. 2015. ↩︎