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

    Gene ID: 701, updated on 3-Nov-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
    mouse all
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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. Differential promoter methylation may be a key molecular mechanism in regulating BubR1 expression in cancer cells. Park HY, et al. Exp Mol Med, 2007 Apr 30. PMID 17464181
    2. Chromosome damage in mitosis induces BubR1 activation and prometaphase arrest. Choi E, et al. FEBS Lett, 2008 May 28. PMID 18440313
    3. Targeting of BUB1b Gene Expression in Sentinel Lymph Node Biopsies of Invasive Breast Cancer in Iranian Female Patients. Mansouri N, et al. Asian Pac J Cancer Prev, 2016. PMID 27165245
    4. Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer. Hahn MM, et al. Genes Chromosomes Cancer, 2016 Nov. PMID 27239782
    5. Two functionally distinct kinetochore pools of BubR1 ensure accurate chromosome segregation. Zhang G, et al. Nat Commun, 2016 Jul 26. PMID 27457023, Free PMC Article

    See all (305) 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
    		Compare labs
    Mosaic variegated aneuploidy syndrome 1
    MedGen: C1850343 OMIM: 257300 GeneReviews: Not available
    		Compare labs
    Premature chromatid separation trait
    MedGen: C1864389 OMIM: 176430 GeneReviews: Not available
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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