InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BUB1B

Summary

InnateDB Protein

IDBP-6105.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BUB1B

Protein Name

budding uninhibited by benzimidazoles 1 homolog beta (yeast)

Synonyms

Bub1A; BUB1beta; BUBR1; hBUBR1; MAD3L; MVA1; SSK1;

Species

Homo sapiens

Ensembl Protein

ENSP00000287598

InnateDB Gene

IDBG-6103 (BUB1B)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:10477750, ECO:0000269PubMed:11702782, ECO:0000269PubMed:14706340, ECO:0000269PubMed:15020684, ECO:0000269PubMed:19411850, ECO:0000269PubMed:19503101}.

Subcellular Localization

Cytoplasm. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Cytoplasmic in interphase cells. Associates with the kinetochores in early prophase. Kinetochore localization requires BUB1, PLK1 and CASC5.

Disease Associations

Note=Defects in BUB1B are associated with tumor formation.Premature chromatid separation trait (PCS) [MIM:176430]: Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant. {ECO:0000269PubMed:16411201}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]: A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269PubMed:15475955}. Note=The disease is caused by mutations affecting the gene represented in this entry. MVA1 is caused by biallelic mutations in the BUB1B gene.

Tissue Specificity

Highly expressed in thymus followed by spleen. Preferentially expressed in tissues with a high mitotic index. {ECO:0000269PubMed:10593653}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 118 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	118 [view]
Protein-Protein	115 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups

Biological Process

GO:0000278	mitotic cell cycle
GO:0006468	protein phosphorylation
GO:0006915	apoptotic process
GO:0007049	cell cycle
GO:0007051	spindle organization
GO:0007067	mitotic nuclear division
GO:0007091	metaphase/anaphase transition of mitotic cell cycle
GO:0007093	mitotic cell cycle checkpoint
GO:0007094	mitotic spindle assembly checkpoint
GO:0008283	cell proliferation
GO:0031145	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process
GO:0034501	protein localization to kinetochore
GO:0048015	phosphatidylinositol-mediated signaling
GO:0051436	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle
GO:0051439	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle
GO:0071459	protein localization to chromosome, centromeric region

Cellular Component

GO:0000776	kinetochore
GO:0000777	condensed chromosome kinetochore
GO:0000778	condensed nuclear chromosome kinetochore
GO:0000940	condensed chromosome outer kinetochore
GO:0005680	anaphase-promoting complex
GO:0005737	cytoplasm
GO:0005815	microtubule organizing center
GO:0005829	cytosol
GO:0048471	perinuclear region of cytoplasm
GO:0051233	spindle midzone