BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
- symbol:
- BUB1B
- locus group:
- protein-coding gene
- location:
- 15q15.1
- gene_family:
- alias symbol:
- BUBR1|MAD3L|Bub1A|SSK1
- alias name:
- None
- entrez id:
- 701
- ensembl gene id:
- ENSG00000156970
- ucsc gene id:
- uc001zkx.5
- refseq accession:
- NM_001211
- hgnc_id:
- HGNC:1149
- approved reserved:
- 1998-03-25
BUB1B（也称为BUBR1）是一种关键的细胞周期调控基因，属于纺锤体组装检查点（SAC，Spindle Assembly Checkpoint）基因家族，该家族还包括BUB1、BUB3和MAD等成员。这些基因的共同功能是确保细胞在有丝分裂过程中染色体正确排列和分离，防止染色体数目异常（非整倍体），从而维持基因组稳定性。BUB1B编码的蛋白质是一种激酶，主要作用位点是着丝粒（染色体上连接纺锤丝的结构），它通过监测微管与着丝粒的附着状态来延迟细胞进入分裂后期，直到所有染色体正确排列。若BUB1B发生突变（如错义突变或缺失），其功能受损会导致检查点失效，引发染色体错误分离，进而可能导致癌症（如结直肠癌、肺癌）或遗传性疾病（如镶嵌型非整倍体综合征，Mosaic Variegated Aneuploidy syndrome，MVA）。在MVA患者中，BUB1B突变表现为生长迟缓、智力障碍和肿瘤易感性。若BUB1B过表达，可能过度抑制细胞周期，导致增殖受阻或细胞凋亡；而低表达则使检查点功能减弱，增加非整倍体风险，促进肿瘤发生。此外，BUB1B与其他检查点蛋白（如CDC20、MAD2）相互作用，其表达异常可能影响这些蛋白的功能网络。研究还发现BUB1B在衰老和神经退行性疾病中起作用，例如阿尔茨海默病中其表达降低可能与神经元染色体不稳定相关。该基因的翻译名称“有丝分裂检查点丝氨酸/苏氨酸激酶BUB1β”为目前标准译名，但“BUBR1”仍广泛使用（原英文名BUB1B或BUB1B homolog）。
This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
该基因编码参与了纺锤体检查点功能的激酶。该蛋白质已被定位于着丝点和播放在后期促进复合物/研究他们（APC / C）的抑制作用，延缓后期的发作，并确保适当的染色体分离。受损纺锤体检查点的功能在许多形式的癌症被发现。 [由RefSeq的，2008年7月提供]
基因本体信息
BUB1B基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
BUB1B基因的本体（GO）信息：
| 名称 |
|---|
| 4110 Cell cycle [PATH:hsa04110] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 名称 |
|---|
| Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins |
| APC-Cdc20 mediated degradation of Nek2A |
| APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint |
| APC/C-mediated degradation of cell cycle proteins |
| APC/C:Cdc20 mediated degradation of mitotic proteins |
| Cdc20:Phospho-APC/C mediated degradation of Cyclin A |
| Cell Cycle |
| Cell Cycle Checkpoints |
| Cell Cycle, Mitotic |
| Inactivation of APC/C via direct inhibition of the APC/C complex |
| Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components |
| M Phase |
| Mitotic Anaphase |
| Mitotic Metaphase and Anaphase |
| Mitotic Prometaphase |
| Mitotic Spindle Checkpoint |
| Regulation of APC/C activators between G1/S and early anaphase |
| Regulation of mitotic cell cycle |
| Resolution of Sister Chromatid Cohesion |
| RHO GTPase Effectors |
| RHO GTPases Activate Formins |
| Separation of Sister Chromatids |
| Signal Transduction |
| Signaling by Rho GTPases |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| MOSAIC VARIEGATED ANEUPLOIDY SYNDROME | 0.561900093 | 8 | 7 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| PREMATURE CHROMATID SEPARATION TRAIT | 0.36 | 1 | 4 | CLINVAR_CTD_human_UNIPROT |
| Colorectal Neoplasms | 0.125991584 | 4 | 0 | BeFree_CTD_human_LHGDN |
| Rhabdomyosarcoma, Embryonal | 0.122995792 | 2 | 0 | BeFree_CTD_human_LHGDN |
| Colon Carcinoma | 0.120271442 | 1 | 1 | BeFree_CLINVAR |
| Squamous cell carcinoma of esophagus | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Microcephaly | 0.12 | 1 | 0 | CTD_human |
| Growth Disorders | 0.12 | 1 | 0 | CTD_human |
| Malignant neoplasm of breast | 0.006091273 | 6 | 0 | BeFree_GAD |
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