BUB1 Mitotic checkpoint Serine/Threonine Kinase B

Alternative Names

BUB1B
Budding Uninhibiting by Benzimidazoles 1, S. cerevisiae, Homolog of, Beta
BUB1, S. cerevisiae, Homolog of, Beta
Mitotic Checkpoint Gene BUB1B
BUBR1

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Length

60,128 bases

No. of Exons

No. of isoforms

Protein Name

Mitotic checkpoint serine/threonine-protein kinase BUB1 beta

Molecular Mass

119545 Da

Amino Acid Count

1050

Genomic Location

chr15:40,161,009-40,221,136

Gene Map Locus

15q15.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001211.6:c.1535A>G	Lebanon	chr15:40200948	Uncertain Significance	Uncertain Significance	Breast Cancer	NG_016338.1:g.44940A>G; NM_001211.6:c.1535A>G ; NP_001202.5:p.Glu512Gly	747225593	1061723
NM_001211.6:c.2441G>A	United Arab Emirates	NC_000015.10:g.40212554G>A	Likely Pathogenic, Pathogenic	Likely Benign		NG_016338.1:g.56546G>A; NM_001211.6:c.2441G>A; NP_001202.5:p.Arg814His	28989182	6764

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External Links

https://ghr.nlm.nih.gov/gene/BUB1B https://www.genecards.org/cgi-bin/carddisp.pl?gene=BUB1B https://www.ncbi.nlm.nih.gov/gene/701

Contributors

Pratibha Nair: 06.07.2020

Edit History

Pratibha Nair: 13.09.2020
Pratibha Nair: 06.07.2020