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Rabbit Anti-BubR1/FITC Conjugated antibody
background:
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]
Function:
Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression.
Subunit:
Interacts with CENPE, CENPF, mitosin, PLK1 and BUB3. Part of a complex containing BUB3, CDC20 and BUB1B. Interacts with anaphase-promoting complex/cyclosome (APC/C). Interacts with CASC5.
Subcellular Location:
Cytoplasm. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, centrosome.
Tissue Specificity:
Highly expressed in thymus followed by spleen. Preferentially expressed in tissues with a high mitotic index.
Post-translational modifications:
Proteolytically cleaved by caspase-3 in a cell cycle specific manner. The cleavage might be involved in the durability of the cell cycle delay. Caspase-3 cleavage is associated with abrogation of the mitotic checkpoint. The major site of cleavage is at Asp-610.
Acetylation at Lys-250 regulates its degradation and timing in anaphase entry.
Ubiquitinated. Degraded by the proteasome.
Sumoylated with SUMO2 and SUMO3. The sumoylation mediates the association with CENPE at the kinetochore.
Autophosphorylated in vitro. Intramolecular autophosphorylation is stimulated by CENPE. Phosphorylated during mitosis and hyperphosphorylated in mitotically arrested cells. Phosphorylation at Ser-670 and Ser-1043 occurs at kinetochores upon mitotic entry with dephosphorylation at the onset of anaphase.
DISEASE:
Note=Defects in BUB1B are associated with tumor formation.
Premature chromatid separation trait (PCS) [MIM:176430]:Consists of separate and splayed chromatids with discerniblecentromeres and involves all or most chromosomes of a metaphase. Itis found in up to 2% of metaphases in cultured lymphocytes fromapproximately 40% of normal individuals. When PCS is present in 5%or more of cells, it is known as the heterozygous PCS trait and hasno obvious phenotypic effect, although some have reported decreasedfertility. Inheritance is autosomal dominant. Note=The disease iscaused by mutations affecting the gene represented in this entry.
Mosaic variegated aneuploidy syndrome 1 (MVA1)[MIM:257300]: A severe developmental disorder characterized bymosaic aneuploidies, predominantly trisomies and monosomies,involving multiple different chromosomes and tissues. Affectedindividuals typically present with severe intrauterine growthretardation and microcephaly. Eye anomalies, mild dysmorphism,variable developmental delay, and a broad spectrum of additionalcongenital abnormalities and medical conditions may also occur. Therisk of malignancy is high, with rhabdomyosarcoma, Wilms tumor andleukemia reported in several cases. Note=The disease is caused bymutations affecting the gene represented in this entry. MVA1 iscaused by biallelic mutations in the BUB1B gene.
Similarity:
Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. BUB1 subfamily.
Contains 1 BUB1 N-terminal domain.
Contains 1 protein kinase domain.
Database links:
Entrez Gene: 701 Human
Omim: 602860 Human
SwissProt: O60566 Human
Unigene: 513645 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
BubR1是存在于哺乳动物中的有丝分裂检查点基因家族Mad3的同源基因,其编码蛋白BubR1是一个多结构域蛋白,在监测细胞有丝分裂前中期向后期转化的过程中扮演重要的角色。
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