AlphaFold predicted structure
BUB1B · O60566
Mean pLDDT
63.6/ 100
Low
1,050 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)34%
- Low(50–70)14%
- Very low(< 50)37%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
BUB1B
Chr 15q15.1BUB1 mitotic checkpoint serine/threonine kinase B
- Aliases:
- BUBR1, MAD3L, Bub1A, SSK1
- MANE:
- ENST00000287598.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood solid tumours
BIALLELIC, autosomal or pseudoautosomalChildhood solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEmbryonal tumour of possible germline origin
BIALLELIC, autosomal or pseudoautosomalFamilial rhabdomyosarcoma
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHydrocephalus
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
mosaic variegated aneuploidy syndrome
0.81mosaic variegated aneuploidy syndrome 1
0.79premature chromatid separation trait
0.63neurodegenerative disease
0.54colorectal cancer
0.50hereditary disease
0.47prostate carcinoma
0.38colon carcinoma
0.38breast ductal adenocarcinoma
0.37gastric carcinoma
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Mitotic checkpoint serine/threonine-protein kinase BUB1 beta
Component of the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation until all chromosomes are properly attached to the mitotic spindle (PubMed:27509861). The MCC, which consists of CDC20, MAD2L1/MAD2, BUB1B/BUBR1 and BUB3, is a key player of the spindle assembly checkpoint (PubMed:11702782, PubMed:14706340, PubMed:15020684, PubMed:27509861). The MCC-bound APC/C complex is inactive and this delays the metaphase/anaphase transition (PubMed:10477750, PubMed:27509861). When the spindle assembly checkpoint is silenced, the MCC-APC/C complex recruits the E2 enzyme UBCH10 and triggers the auto-ubiquitination of CDC20 in the MCC, thereby reactivating APC/C for transition into anaphase (PubMed:27509861). MCC also monitors kinetochore activities that depend on the kinetochore motor CENPE (PubMed:15020684). Required for kinetochore localization of CENPE (PubMed:15020684). Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification (PubMed:19503101). May play a role for tumor suppression (By similarity)
Diseases associated with BUB1B
Curated MONDO disease pages that list BUB1B among their top associated genes.