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

    Gene ID: 699, updated on 6-May-2024

    Summary

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    Official Symbol
    BUB1provided by HGNC
    Official Full Name
    BUB1 mitotic checkpoint serine/threonine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:1148
    See related
    Ensembl:ENSG00000169679 MIM:602452; AllianceGenome:HGNC:1148
    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
    BUB1A; BUB1L; hBUB1; MCPH30
    Summary
    This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in testis (RPKM 25.2), lymph node (RPKM 11.3) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (110637528..110678063, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (111060427..111100976, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (111395105..111435640, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373553 Neighboring gene ribosomal protein L22 pseudogene 12 Neighboring gene small nucleolar RNA, C/D box 132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16371 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:111434896-111435816 Neighboring gene uncharacterized LOC105373554 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:111435817-111436737 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:111445059-111446030 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:111446031-111447002 Neighboring gene Sharpr-MPRA regulatory region 12654 Neighboring gene uncharacterized LOC124906064

    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
    • 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. BUB1 predicts poor prognosis and immune status in liver hepatocellular carcinoma. Qi W, et al. APMIS, 2022 Jul. PMID 35255180
    2. Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. Carvalhal S, et al. Sci Adv, 2022 Jan 21. PMID 35044816, Free PMC Article
    3. Prognostic Value of BUB1 for Predicting Non-Muscle-Invasive Bladder Cancer Progression. Piao XM, et al. Int J Mol Sci, 2021 Nov 25. PMID 34884561, Free PMC Article
    4. Inhibition of BUB1 suppresses tumorigenesis of osteosarcoma via blocking of PI3K/Akt and ERK pathways. Huang Z, et al. J Cell Mol Med, 2021 Sep. PMID 34337852, Free PMC Article
    5. Inhibition of BUB1 Kinase by BAY 1816032 Sensitizes Tumor Cells toward Taxanes, ATR, and PARP Inhibitors In Vitro and In Vivo. Siemeister G, et al. Clin Cancer Res, 2019 Feb 15. PMID 30429199

    See all (168) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bub1 suppresses inflammatory arthritis-associated bone loss in mice through inhibition of TNFalpha-mediated osteoclastogenesis.
      Title: Bub1 suppresses inflammatory arthritis-associated bone loss in mice through inhibition of TNFα-mediated osteoclastogenesis.
    2. Expression of the checkpoint kinase BUB1 is a predictor of response to cancer therapies.
      Title: Expression of the checkpoint kinase BUB1 is a predictor of response to cancer therapies.
    3. The mitotic checkpoint kinase BUB1 is a direct and actionable target of MYB in adenoid cystic carcinoma.
      Title: The mitotic checkpoint kinase BUB1 is a direct and actionable target of MYB in adenoid cystic carcinoma.
    4. Knockdown of BUB1 inhibits tumor necrosis factor-alpha-induced proliferation and migration of rheumatoid arthritis synovial fibroblasts by regulating PI3K/Akt pathway.
      Title: Knockdown of BUB1 inhibits tumor necrosis factor-α-induced proliferation and migration of rheumatoid arthritis synovial fibroblasts by regulating PI3K/Akt pathway.
    5. 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.
    6. BUB1 predicts poor prognosis and immune status in liver hepatocellular carcinoma.
      Title: BUB1 predicts poor prognosis and immune status in liver hepatocellular carcinoma.
    7. 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.
    8. Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
      Title: Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
    9. Bub1 and CENP-U redundantly recruit Plk1 to stabilize kinetochore-microtubule attachments and ensure accurate chromosome segregation.
      Title: Bub1 and CENP-U redundantly recruit Plk1 to stabilize kinetochore-microtubule attachments and ensure accurate chromosome segregation.
    10. Inhibition of BUB1 suppresses tumorigenesis of osteosarcoma via blocking of PI3K/Akt and ERK pathways.
      Title: Inhibition of BUB1 suppresses tumorigenesis of osteosarcoma via blocking of PI3K/Akt and ERK pathways.
    Submit: New GeneRIF Correction See all GeneRIFs (100)

    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
    Microcephaly 30, primary, autosomal recessive
    MedGen: C5774280 OMIM: 620183 GeneReviews: Not available
    		not available

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2A kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 chromosome segregation 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 mitotic spindle assembly checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic spindle assembly checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of sister chromatid cohesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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 

    General protein information

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    Preferred Names
    mitotic checkpoint serine/threonine-protein kinase BUB1
    Names
    BUB1 budding uninhibited by benzimidazoles 1 homolog
    budding uninhibited by benzimidazoles 1 homolog
    mitotic spindle checkpoint kinase
    putative serine/threonine-protein kinase
    NP_001265545.1
    NP_001265546.1
    NP_004327.1
    XP_047301572.1
    XP_054199555.1

    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_012048.2 RefSeqGene

      Range
      5000..45535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278616.2 → NP_001265545.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AC226101, AK302418
      Consensus CDS
      CCDS62984.1
      UniProtKB/TrEMBL
      B4DYG2
      Related
      ENSP00000441013.1, ENST00000535254.6
      Conserved Domains (2) summary
      smart00777
      Location:8 → 105
      Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
      cd14028
      Location:766 → 1053
      STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1

    2. NM_001278617.2 → NP_001265546.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 3 which is shorter than isoform 1.
      Source sequence(s)
      AC226101, AK225317
      Consensus CDS
      CCDS62985.1
      UniProtKB/TrEMBL
      A8K5A6
      Related
      ENSP00000386701.1, ENST00000409311.5
      Conserved Domains (2) summary
      smart00777
      Location:5 → 125
      Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
      cl21453
      Location:786 → 1016
      PKc_like; Protein Kinases, catalytic domain

    3. NM_004336.5 → NP_004327.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 1

      See identical proteins and their annotated locations for NP_004327.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC226101, AF047471
      Consensus CDS
      CCDS33273.1
      UniProtKB/Swiss-Prot
      E9PC26, F5GXI5, O43430, O43643, O43683, O60626, Q53QE4
      UniProtKB/TrEMBL
      A8K5A6
      Related
      ENSP00000302530.6, ENST00000302759.11
      Conserved Domains (2) summary
      smart00777
      Location:5 → 125
      Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
      cd14028
      Location:786 → 1073
      STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      110637528..110678063 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445616.1 → XP_047301572.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

      Related
      ENST00000466333.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      111060427..111100976 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343580.1 → XP_054199555.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43683.1 GenPept UniProtKB/Swiss-Prot:O43683

    Gene LinkOut

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

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