| Gene Symbol | BUB1 |
| Protein Type | Kinase |
| Function | 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[@yu2007]. |
| Primary Expression | proliferating cells: - Highest: Bone marrow, testis, embryonic tissues[@gtex] - Cell cycle-regulated: Peak in G2/M phase - Low/undetectable: Most diff |
| Subcellular Localization | and activity[@ruchaud2007] BUB1 contains: - N-terminal kinetochore-targeting do |
| GeneCards | BUB1 |
| Human Protein Atlas | BUB1 |
| Checkpoint signaling | BUB1 phosphorylates MAD3/BUBR1 to generate the mitotic checkpoint complex (MCC)[@chen1999] |
| Kinetochore localization | BUB1 localizes to kinetochores and recruits other checkpoint proteins[@sharpbaker2001] |
| Chromosome alignment | Ensures proper kinetochore-microtubule attachments[@li2009] |
| Centromere function | Regulates Aurora B kinase localization and activity[@ruchaud2007] |
| Colorectal cancer | BUB1 mutations in microsatellite instability-high tumors[@shichiri2002] |
| Breast cancer | Altered expression in aggressive subtypes[@yuan2006] |
| Hematologic malignancies | Mutations in B-cell lymphomas and leukemias[@cai2009] |
| Mosaic Variegated Aneuploidy (MVA) | Biallelic BUB1 mutations cause MVA syndrome[@matsuura2006] |
| Associated Diseases | ALS |
| Interactions | CDK1, MKI67, MMP1, MMP9, PLK1 |
| KG Connections | 9 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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