| Full Name | Mitotic Checkpoint Kinase BUB1 (Budding Uninhibited by Benzimidazoles 1) |
|---|---|
| Chromosomal Location | 2q14 |
| NCBI Gene ID | 699 |
| OMIM | 602452 |
| Ensembl ID | ENSG00000169679 |
| UniProt ID | O43683 |
| Protein | BUB1 protein |
| Associated Diseases | Cancer (multiple types), Mosaic variegated aneuploidy (MVA), Microcephaly, Growth retardation |
BUBR1 is a human gene whose product bUB1 (Budding Uninhibited by Benzimidazoles 1) is a serine/threonine-protein kinase that plays a critical role in the mitotic checkpoint (spindle assembly checkpoint), ensuring proper chromosome segregation during cell division[1]. Variants in BUBR1 have been implicated in Cancer, Congenital Disorders, Neurodegeneration. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
BUB1 (Budding Uninhibited by Benzimidazoles 1) is a serine/threonine-protein kinase that plays a critical role in the mitotic checkpoint (spindle assembly checkpoint), ensuring proper chromosome segregation during cell division[1:1].
BUB1 contains:
BUB1 is expressed in proliferating cells:
Brain expression:
Yu H. BUB1 and the spindle checkpoint. Cell. 2007. ↩︎ ↩︎
Chen RH, et al. BUB1 phosphorylates MAD3. EMBO J. 1999. ↩︎
Sharp-Baker H, et al. BUB1 kinetochore localization. J Cell Biol. 2001. ↩︎
Li W, et al. BUB1 and chromosome alignment. Nat Cell Biol. 2009. ↩︎
Ruchaud S, et al. BUB1 and Aurora B. Nat Rev Cancer. 2007. ↩︎
Kang J, et al. BUB1 structure. Nat Struct Mol Biol. 2008. ↩︎
Shichiri M, et al. BUB1 in colorectal cancer. Cancer Res. 2002. ↩︎
Yuan B, et al. BUB1 in breast cancer. Oncogene. 2006. ↩︎
Cai JR, et al. BUB1 mutations in lymphoma. Blood. 2009. ↩︎
Matsuura S, et al. BUB1 and MVA syndrome. Nat Genet. 2006. ↩︎
Suijkerbuijk SJ, et al. BUB1 and microcephaly. Cell. 2010. ↩︎
Yang Z, et al. Aneuploidy in Alzheimer's disease. Trends Neurosci. 2001. ↩︎
Liu C, et al. Mitotic checkpoint in neurodegeneration. Acta Neuropathol. 2014. ↩︎
Baker DJ, et al. Checkpoint decline in aging. Nat Rev Cancer. 2014. ↩︎
GTEx Consortium. BUB1 expression atlas. ↩︎
Kops GJ, et al. BUB1 as therapeutic target. Nat Rev Cancer. 2004. ↩︎
Janssen A, et al. Synthetic lethality with checkpoint inhibition. J Cell Biol. 2009. ↩︎
Holland AJ, et al. Checkpoint biomarkers. Nat Rev Clin Oncol. 2012. ↩︎