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BUB1B BUB1 mitotic checkpoint serine/threonine kinase B [ Homo sapiens (human) ]

Gene ID: 701, updated on 28-Oct-2024

Summary

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Official Symbol
BUB1Bprovided by HGNC
Official Full Name
BUB1 mitotic checkpoint serine/threonine kinase Bprovided by HGNC
Primary source
HGNC:HGNC:1149
See related
Ensembl:ENSG00000156970 MIM:602860; AllianceGenome:HGNC:1149
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MVA1; SSK1; BUBR1; Bub1A; MAD3L; hBUBR1; BUB1beta
Summary
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]
Expression
Biased expression in testis (RPKM 16.5), bone marrow (RPKM 7.5) and 12 other tissues See more
Orthologs
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Genomic context

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See BUB1B in Genome Data Viewer
Location:
15q15.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40161069..40221123)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (37967956..38028008)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40453270..40513324)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40428847-40429621 Neighboring gene MT-ND5 pseudogene 37 Neighboring gene MT-ND4 pseudogene 37 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40449670-40450530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9237 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40453661-40454425 Neighboring gene uncharacterized LOC107984763 Neighboring gene MPRA-validated peak2300 silencer Neighboring gene BUB1B-PAK6 readthrough Neighboring gene MPRA-validated peak2301 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40520705-40521206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40534525-40535024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40537349-40537850 Neighboring gene Sharpr-MPRA regulatory region 12967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6319 Neighboring gene p21 (RAC1) activated kinase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40548820-40549617 Neighboring gene PAK6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40564915-40565416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40566138-40566638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40572232-40573016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6322 Neighboring gene ankyrin repeat domain 63

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The promoter region of the human BUBR1 gene and its expression analysis in lung cancer. Seike M, et al. Lung Cancer, 2002 Dec. PMID 12445743
  2. Chromosome damage in mitosis induces BubR1 activation and prometaphase arrest. Choi E, et al. FEBS Lett, 2008 May 28. PMID 18440313
  3. Phylogenomics-guided discovery of a novel conserved cassette of short linear motifs in BubR1 essential for the spindle checkpoint. Tromer E, et al. Open Biol, 2016 Dec. PMID 28003474, Free PMC Article
  4. Depletion of BubR1 promotes premature centrosomal localization of cyclin B1 and accelerates mitotic entry. Park SY, et al. Cell Cycle, 2009 Jun 1. PMID 19411850
  5. BubR1 alterations that reinforce mitotic surveillance act against aneuploidy and cancer. Weaver RL, et al. Elife, 2016 Aug 16. PMID 27528194, Free PMC Article

See all (303) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BUB1b impairs chemotherapy sensitivity via resistance to ferroptosis in lung adenocarcinoma.
    Title: BUB1b impairs chemotherapy sensitivity via resistance to ferroptosis in lung adenocarcinoma.
  2. Correlation of BUB1 and BUB1B with the development and prognosis of endometrial cancer.
    Title: Correlation of BUB1 and BUB1B with the development and prognosis of endometrial cancer.
  3. Knockdown of BUB1B Inhibits the Proliferation, Migration, and Invasion of Colorectal Cancer by Regulating the JNK/c-Jun Signaling Pathway.
    Title: Knockdown of BUB1B Inhibits the Proliferation, Migration, and Invasion of Colorectal Cancer by Regulating the JNK/c-Jun Signaling Pathway.
  4. BubR1 and cyclin B1 immunoexpression in pleomorphic adenoma and polymorphous adenocarcinoma of minor salivary glands.
    Title: BubR1 and cyclin B1 immunoexpression in pleomorphic adenoma and polymorphous adenocarcinoma of minor salivary glands.
  5. E3-ubiquitin ligase, FBXW7 regulates mitotic progression by targeting BubR1 for ubiquitin-mediated degradation.
    Title: E3-ubiquitin ligase, FBXW7 regulates mitotic progression by targeting BubR1 for ubiquitin-mediated degradation.
  6. Clinical value and potential mechanisms of BUB1B up-regulation in nasopharyngeal carcinoma.
    Title: Clinical value and potential mechanisms of BUB1B up-regulation in nasopharyngeal carcinoma.
  7. BubR1 recruitment to the kinetochore via Bub1 enhances spindle assembly checkpoint signaling.
    Title: BubR1 recruitment to the kinetochore via Bub1 enhances spindle assembly checkpoint signaling.
  8. BUBs Are New Biomarkers of Promoting Tumorigenesis and Affecting Prognosis in Breast Cancer.
    Title: BUBs Are New Biomarkers of Promoting Tumorigenesis and Affecting Prognosis in Breast Cancer.
  9. BUB1B and circBUB1B_544aa aggravate multiple myeloma malignancy through evoking chromosomal instability.
    Title: BUB1B and circBUB1B_544aa aggravate multiple myeloma malignancy through evoking chromosomal instability.
  10. BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B) promotes lung adenocarcinoma by interacting with Zinc Finger Protein ZNF143 and regulating glycolysis.
    Title: BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B) promotes lung adenocarcinoma by interacting with Zinc Finger Protein ZNF143 and regulating glycolysis.
Submit: New GeneRIF Correction See all GeneRIFs (133)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Colorectal cancer
MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
not available
Mosaic variegated aneuploidy syndrome 1
MedGen: C1850343 OMIM: 257300 GeneReviews: Not available
not available
Premature chromatid separation trait
MedGen: C1864389 OMIM: 176430 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Activation of the spindle checkpoint proteins MAD2, BUB1, and BUBR1 is necessary for the activity of HIV-1 Tat to induce mitotic arrest and subsequent apoptosis PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough BUB1B-PAK6

Readthrough gene: BUB1B-PAK6, Included gene: PAK6

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein kinase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in meiotic sister chromatid cohesion, centromeric IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in metaphase/anaphase transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic spindle assembly checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic spindle assembly checkpoint signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitotic spindle assembly checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic spindle assembly checkpoint signaling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of anaphase-promoting complex TAS
Traceable Author Statement
more info
 PubMed 
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
located_in kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitotic checkpoint complex IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of outer kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in spindle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mitotic checkpoint serine/threonine-protein kinase BUB1 beta
Names
BUB1B, mitotic checkpoint serine/threonine kinase
MAD3/BUB1-related protein kinase
budding uninhibited by benzimidazoles 1 homolog beta
mitotic checkpoint kinase MAD3L
NP_001202.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016338.1 RefSeqGene

    Range
    5001..65128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_489

mRNA and Protein(s)

  1. NM_001211.6 → NP_001202.5  mitotic checkpoint serine/threonine-protein kinase BUB1 beta

    Status: REVIEWED

    Source sequence(s)
    AC025429
    Consensus CDS
    CCDS10053.1
    UniProtKB/Swiss-Prot
    B2R6U0, B4DL09, B4DLG3, O60501, O60566, O60627, O60758, O75389, Q59HH6, Q8WV50, Q96KM4
    Related
    ENSP00000287598.7, ENST00000287598.11
    Conserved Domains (3) summary
    PTZ00121
    Location:369 → 488
    PTZ00121; MAEBL; Provisional
    cd14029
    Location:750 → 1045
    STKc_BubR1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein BubR1
    pfam08311
    Location:57 → 178
    Mad3_BUB1_I; Mad3/BUB1 homology region 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    40161069..40221123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    37967956..38028008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60566.3 GenPept UniProtKB/Swiss-Prot:O60566

Gene LinkOut

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