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

    Gene ID: 12235, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in CNS E11.5 (RPKM 13.2), liver E14 (RPKM 9.4) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables eukaryotic translation initiation factor 2alpha kinase activity 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 histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4S1 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
     
    enables ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    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 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

    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)

    NEW Try the new Transcript table

    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_001113179.1NP_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:6125
      Mad3_BUB1_I; Mad3/BUB1 homology region 1
      cl21453
      Location:7611047
      PKc_like; Protein Kinases, catalytic domain
    2. NM_009772.2NP_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:6125
      Mad3_BUB1_I; Mad3/BUB1 homology region 1
      cl21453
      Location:7601046
      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_036157774.1XP_036013667.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X2

      UniProtKB/Swiss-Prot
      O08901, O09007
      Conserved Domains (2) summary
      pfam08311
      Location:9125
      Mad3_BUB1_I; Mad3/BUB1 homology region 1
      cl21453
      Location:7461032
      PKc_like; Protein Kinases, catalytic domain
    2. XM_006498620.4XP_006498683.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

      UniProtKB/TrEMBL
      Q8K1K8
      Conserved Domains (2) summary
      pfam08311
      Location:9125
      Mad3_BUB1_I; Mad3/BUB1 homology region 1
      cl21453
      Location:7471033
      PKc_like; Protein Kinases, catalytic domain