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Bub1 BUB1, mitotic checkpoint serine/threonine kinase [ Mus musculus (house mouse) ]

Gene ID: 12235, updated on 2-Nov-2024

Summary

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Official Symbol
Bub1provided by MGI
Official Full Name
BUB1, mitotic checkpoint serine/threonine kinaseprovided by MGI
Primary source
MGI:MGI:1100510
See related
Ensembl:ENSMUSG00000027379 AllianceGenome:MGI:1100510
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Bub1a; D2Xrf87
Summary
Predicted to enable histone H2A kinase activity and protein serine/threonine kinase activity. Acts upstream of or within chromosome segregation and positive regulation of intrinsic apoptotic signaling pathway. Located in kinetochore. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in colorectal cancer and primary autosomal recessive microcephaly. Orthologous to human BUB1 (BUB1 mitotic checkpoint serine/threonine kinase). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in CNS E11.5 (RPKM 13.2), liver E14 (RPKM 9.4) and 10 other tissues See more
Orthologs
human all
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Genomic context

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See Bub1 in Genome Data Viewer
Location:
2 F1; 2 62.1 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (127642117..127673790, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (127800197..127831859, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_05630 Neighboring gene nephronophthisis 1 (juvenile) homolog (human) Neighboring gene STARR-positive B cell enhancer ABC_E415 Neighboring gene mitoregulin Neighboring gene STARR-seq mESC enhancer starr_05631 Neighboring gene acyl-Coenzyme A oxidase-like Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127753660-127754051 Neighboring gene STARR-positive B cell enhancer ABC_E7858 Neighboring gene STARR-positive B cell enhancer ABC_E9204 Neighboring gene STARR-positive B cell enhancer ABC_E10140 Neighboring gene STARR-seq mESC enhancer starr_05633 Neighboring gene STARR-positive B cell enhancer ABC_E10141 Neighboring gene STARR-positive B cell enhancer ABC_E4497 Neighboring gene STARR-positive B cell enhancer ABC_E9532 Neighboring gene predicted gene, 23101 Neighboring gene STARR-positive B cell enhancer mm9_chr2:127953069-127953369 Neighboring gene STARR-seq mESC enhancer starr_05636 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127978569-127978830 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127981992-127982193 Neighboring gene BCL2 like 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Heterozygosity for a Bub1 mutation causes female-specific germ cell aneuploidy in mice. Leland S, et al. Proc Natl Acad Sci U S A, 2009 Aug 4. PMID 19617567, Free PMC Article
  2. Inactivating the spindle checkpoint kinase Bub1 during embryonic development results in a global shutdown of proliferation. Tilston V, et al. BMC Res Notes, 2009 Sep 23. PMID 19772675, Free PMC Article
  3. Bub1 prevents chromosome misalignment and precocious anaphase during mouse oocyte meiosis. Yin S, et al. Cell Cycle, 2006 Sep. PMID 16969117
  4. Kinetochore localization of murine Bub1 is required for normal mitotic timing and checkpoint response to spindle damage. Taylor SS, et al. Cell, 1997 May 30. PMID 9182760
  5. Budding Uninhibited by Benzimidazole-1 Insufficiency Prevents Acute Renal Failure in Severe Sepsis by Maintaining Anticoagulant Functions of Vascular Endothelial Cells. Matsubara Y, et al. Shock, 2019 Mar. PMID 29608549

See all (70) 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. Bub1 insufficiency attenuates TF expression and reduces TM suppression by blocking Akt and JNK phosphorylation, respectively, thus leading to the prevention of ARF and death caused by sepsis.
    Title: Budding Uninhibited by Benzimidazole-1 Insufficiency Prevents Acute Renal Failure in Severe Sepsis by Maintaining Anticoagulant Functions of Vascular Endothelial Cells.
  3. Bub1 coordinates checkpoint signalling by distinct domains for RZZ and BubR1 recruitment and localizes antagonistic checkpoint activities.
    Title: Distinct domains in Bub1 localize RZZ and BubR1 to kinetochores to regulate the checkpoint.
  4. It was shown that that Bub1 kinase activity integrates attachment error correction and mitotic checkpoint signaling by controlling the localization and activity of Aurora B kinase through phosphorylation of histone H2A at threonine 121.
    Title: Bub1 kinase activity drives error correction and mitotic checkpoint control but not tumor suppression.
  5. Results establish that Bub1 has oncogenic properties and suggest that Aurora B is a critical target through which overexpressed Bub1 drives aneuploidization and tumorigenesis.
    Title: Bub1 overexpression induces aneuploidy and tumor formation through Aurora B kinase hyperactivation.
  6. It seems that Sgo1 sets up the centromeric protection mechanism in G2, but that its Bub1-dependent localisation to centromeres during mitosis is not required to maintain cohesion.
    Title: Sgo1 establishes the centromeric cohesion protection mechanism in G2 before subsequent Bub1-dependent recruitment in mitosis.
  7. Bub1 insufficiency can drive tumor formation through tumor suppressor gene loss of heterozygosity, but only in restricted genetic and cellular contexts
    Title: Whole chromosome instability caused by Bub1 insufficiency drives tumorigenesis through tumor suppressor gene loss of heterozygosity.
  8. Bub1 dysfunction is linked to inherited aneuploidy in female germ cells and may contribute to the maternal age-related increase in aneuploidy and pregnancy loss.
    Title: Heterozygosity for a Bub1 mutation causes female-specific germ cell aneuploidy in mice.
  9. Data show that the anaphase-promoting complex is activated in an exponential fashion after germinal vesicle breakdown in oocytes and that this process is advanced by 5 hr in oocytes lacking Bub1.
    Title: Regulation of APC/C activity in oocytes by a Bub1-dependent spindle assembly checkpoint.
  10. Bub1 is essential for proper chromosome segregation, a defect that can lead to severe phenotypes, including perinatal lethality and a predisposition to cancer.
    Title: Impaired Bub1 function in vivo compromises tension-dependent checkpoint function leading to aneuploidy and tumorigenesis.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

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 MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H2A kinase activity ISO
Inferred from Sequence Orthology
more info
  
enables histone H2A kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein kinase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within chromosome segregation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in mitotic spindle assembly checkpoint signaling ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within mitotic spindle checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric ISO
Inferred from Sequence Orthology
more info
  
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of chromosome segregation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of sister chromatid cohesion ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of sister chromatid cohesion ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in chromosome, centromeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in condensed chromosome, centromeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
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 kinetochore ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
part_of outer kinetochore ISO
Inferred from Sequence Orthology
more info
  
part_of outer kinetochore ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
mitotic checkpoint serine/threonine-protein kinase BUB1
Names
budding uninhibited by benzimidazoles 1 homolog
mBUB1
NP_001106650.1
NP_033902.2
XP_006498683.1
XP_036013667.1

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.

mRNA and Protein(s)

  1. NM_001113179.1 → NP_001106650.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK042932, AK144213, AL844204, U89795
    Consensus CDS
    CCDS50706.1
    UniProtKB/TrEMBL
    A2APR8, Q8K1K8
    Related
    ENSMUSP00000028858.8, ENSMUST00000028858.9
    Conserved Domains (2) summary
    pfam08311
    Location:6 → 125
    Mad3_BUB1_I; Mad3/BUB1 homology region 1
    cl21453
    Location:761 → 1047
    PKc_like; Protein Kinases, catalytic domain

  2. NM_009772.2 → NP_033902.2  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK042932, AL844204, U89795
    UniProtKB/Swiss-Prot
    O08901, O09007
    UniProtKB/TrEMBL
    A0A8I4YXJ8
    Related
    ENSMUSP00001091667.1, ENSMUST00020183811.1
    Conserved Domains (2) summary
    pfam08311
    Location:6 → 125
    Mad3_BUB1_I; Mad3/BUB1 homology region 1
    cl21453
    Location:760 → 1046
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    127642117..127673790 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036157774.1 → XP_036013667.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X2

    UniProtKB/Swiss-Prot
    O08901, O09007
    Conserved Domains (2) summary
    pfam08311
    Location:9 → 125
    Mad3_BUB1_I; Mad3/BUB1 homology region 1
    cl21453
    Location:746 → 1032
    PKc_like; Protein Kinases, catalytic domain

  2. XM_006498620.4 → XP_006498683.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

    UniProtKB/TrEMBL
    Q8K1K8
    Conserved Domains (2) summary
    pfam08311
    Location:9 → 125
    Mad3_BUB1_I; Mad3/BUB1 homology region 1
    cl21453
    Location:747 → 1033
    PKc_like; Protein Kinases, catalytic domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O08901.1 GenPept UniProtKB/Swiss-Prot:O08901

Gene LinkOut

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