My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) [ Homo sapiens ]

    Gene ID: 699, updated on 20-May-2012
    Help top of page

    Summary

    Official Symbol
    BUB1provided by HGNC
    Official Full Name
    budding uninhibited by benzimidazoles 1 homolog (yeast)provided by HGNC
    Primary source
    HGNC:1148
    See related
    Ensembl:ENSG00000169679; HPRD:03907; MIM:602452; Vega:OTTHUMG00000153638
    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
    Summary
    This gene encodes a kinase involved in spindle checkpoint function. The kinase functions in part by phosphorylating a member of the miotic checkpoint complex and activating the spindle checkpoint. Mutations in this gene have been associated with aneuploidy and several forms of cancer. [provided by RefSeq, Jul 2008]
    Help top of page

    Genomic context

    Location :
    2q14
    Sequence :
    Chromosome: 2; NC_000002.11 (111395409..111435684, complement)
    See BUB1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507581 Neighboring gene ribosomal protein L22 pseudogene 12 Neighboring gene acyl-CoA oxidase-like Neighboring gene ribosomal protein L5 pseudogene 9 Neighboring gene uncharacterized FLJ44006

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. Aurora-B mediated ATM serine 1403 phosphorylation is required for mitotic ATM activation and the spindle checkpoint. Yang C, et al. Mol Cell, 2011 Nov 18. PMID 22099307.
    2. The kinetochore protein Bub1 participates in the DNA damage response. Yang C, et al. DNA Repair (Amst), 2012 Feb 1. PMID 22071147.
    3. Bub1 overexpression induces aneuploidy and tumor formation through Aurora B kinase hyperactivation. Ricke RM, et al. J Cell Biol, 2011 Jun 13. PMID 21646403.
    4. Protein interaction domain mapping of human kinetochore protein Blinkin reveals a consensus motif for binding of spindle assembly checkpoint proteins Bub1 and BubR1. Kiyomitsu T, et al. Mol Cell Biol, 2011 Mar. PMID 21199919.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. the molecular mechanism of DNA damage-induced Bub1 activation and highlight a critical role of Bub1 in DNA damage response
      Title: The kinetochore protein Bub1 participates in the DNA damage response.
    2. ATM-mediated Bub1 Ser314 phosphorylation is required for Bub1 activity and is essential for the activation of the spindle checkpoint.
      Title: Aurora-B mediated ATM serine 1403 phosphorylation is required for mitotic ATM activation and the spindle checkpoint.
    3. Bub1 expression could be regulated by estradiol and paclitaxel in endometrial carcinoma Ishikawa cells.
      Title: [Regulation of Bub1 mRNA expression in endometrial carcinoma Ishikawa cells by estrogen and paclitaxel].
    4. 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.
    5. Findings strongly suggest that the loss of spindle assembly checkpoint proteins, such as Bub1 and Mad2, may cause spontaneous miscarriages.
      Title: Reduced expression of Mad2 and Bub1 proteins is associated with spontaneous miscarriages.
    6. h-KNL1 functions to connect Bub1 and BubR1 with the hMis12, Ndc80, and Zwint-1 complexes.
      Title: Protein interaction domain mapping of human kinetochore protein Blinkin reveals a consensus motif for binding of spindle assembly checkpoint proteins Bub1 and BubR1.
    7. findings show phosphorylation of histone H3-threonine 3 mediated by Haspin cooperates with Bub1-mediated histone 2A-serine 121 phosphorylation in targeting the chromosomal passenger complex to the inner centromere in fission yeast and human cells
      Title: Two histone marks establish the inner centromere and chromosome bi-orientation.
    8. the interaction between LANA and the kinetochore proteins CENP-F and Bub1 is important for KSHV genome tethering and its segregation to new daughter cells
      Title: Bub1 and CENP-F can contribute to Kaposi's sarcoma-associated herpesvirus genome persistence by targeting LANA to kinetochores.
    9. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
    10. Depletion of the outer kinetochore protein hBub1 upon activation of SAC primarily triggers early cell death mediated by p53.
      Title: hBub1 deficiency triggers a novel p53 mediated early apoptotic checkpoint pathway in mitotic spindle damaged cells.
    Submit: New GeneRIF Correction See all (44)
    Help top of page

    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Colorectal cancer with chromosomal instability

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_004327.1 NP_004716.1 BUB3    BIND  PubMed Bub1 interacts with Bub3. 
    NP_004327.1 NP_001246.1 CDC20    BIND  PubMed Bub1 interacts with Cdc20. 
    O43683 Q10567 AP1B1    HPRD  PubMed  
    O43683 P63010 AP2B1    HPRD  PubMed  
    O43683 O00203 AP3B1    HPRD  PubMed  
    O43683 Q9Y6B7 AP4B1    HPRD  PubMed  
    O43683 P25054 APC    HPRD  PubMed  
    O43683 O95376 ARIH2    HPRD  PubMed  
    O43683 O43684 BUB3    HPRD  PubMed  
    O43683 Q12834 CDC20    HPRD  PubMed  
    O43683 P06493 CDK1    HPRD  PubMed  
    O43683 P46108 CRK    HPRD  PubMed  
    O43683 Q13541 EIF4EBP1    HPRD  PubMed  
    O43683 Q13547 HDAC1    HPRD  PubMed  
    O43683 P53350 PLK1    HPRD  PubMed  
    O43683 P78406 RAE1    HPRD  PubMed  
    BioGRID:107164 BioGRID:106821 APC    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:107164 BioGRID:115694 ARIH2    BioGRID  PubMed Two-hybrid 
    BioGRID:107164 BioGRID:107164 BUB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:107166 BUB1B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:198404 Bub1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:198405 Bub1b    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:121354 CASC5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:107788 CRK    BioGRID  PubMed Two-hybrid 
    BioGRID:107164 BioGRID:223749 Cdc20    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:123045 DSN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:107164 BioGRID:122474 MIS12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:211970 Mis12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:115675 NDC80    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:117433 NSL1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-localization 
    BioGRID:107164 BioGRID:123673 NUF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:211904 Ndc80    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:114054 RAE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107164 BioGRID:127093 SPC24    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:121507 SPC25    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:112707 SVIL    BioGRID  PubMed Two-hybrid 
    BioGRID:107164 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:119501 UBR5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107164 BioGRID:116303 ZWINT    BioGRID  PubMed Affinity Capture-MS 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Aurora B signaling, organism-specific biosystem (from Pathway Interaction Database)
      Aurora B signaling, organism-specific biosystem
      Aurora B signaling
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell cycle, organism-specific biosystem (from WikiPathways)
      Cell cycle, organism-specific biosystem(From http://en.wikipedia.org/wiki/Cell_cycle) The cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle in...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Mitotic M-M/G1 phases, organism-specific biosystem (from REACTOME)
      Mitotic M-M/G1 phases, organism-specific biosystem
      Mitotic M-M/G1 phases
    • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
      Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and ...
    • Oocyte meiosis, organism-specific biosystem (from KEGG)
      Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Oocyte meiosis, conserved biosystem (from KEGG)
      Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • PLK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      PLK1 signaling events, organism-specific biosystem
      PLK1 signaling events
    • Progesterone-mediated oocyte maturation, organism-specific biosystem (from KEGG)
      Progesterone-mediated oocyte maturation, organism-specific biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
    • Progesterone-mediated oocyte maturation, conserved biosystem (from KEGG)
      Progesterone-mediated oocyte maturation, conserved biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    M phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    embryo development IEA
    Inferred from Electronic Annotation
    more info
    		  
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    mitotic cell cycle checkpoint TAS
    Traceable Author Statement
    more info
    		 PubMed 
    mitotic cell cycle spindle assembly checkpoint TAS
    Traceable Author Statement
    more info
    		 PubMed 
    mitotic prometaphase TAS
    Traceable Author Statement
    more info
    		  
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    regulation of sister chromatid cohesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    spindle assembly checkpoint IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    spindle assembly checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    condensed chromosome kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    condensed nuclear chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    mitotic checkpoint serine/threonine-protein kinase BUB1
    Names
    mitotic checkpoint serine/threonine-protein kinase BUB1
    mitotic spindle checkpoint kinase
    putative serine/threonine-protein kinase
    BUB1 budding uninhibited by benzimidazoles 1 homolog
    NP_004327.1
    Help top of page

    NCBI Reference Sequences (RefSeq)

    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_012048.1 RefSeqGene

      Range
      5001..45275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AF046078, BC028201, DB453210
      Consensus CDS
      CCDS33273.1
      UniProtKB/Swiss-Prot
      O43683
      Related
      ENSP00000302530, OTTHUMP00000204238, ENST00000302759, OTTHUMT00000331925
      Conserved Domains (2) summary
      cd00180
      Location:793 – 998
      Blast Score: 255
      PKc; Catalytic domain of Protein Kinases
      cl07066
      Location:6 – 126
      Blast Score: 419
      Mad3_BUB1_I; Mad3/BUB1 homology region 1

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      111395409..111435684, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      104274538..104314815, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC114776.3 AAY14706.1
    genomic AC226101.3 (2117..42392) None
    genomic AF139363.1 AAD43675.1
    genomic AF264055.1 AAK29549.1
    genomic CH471237.1 EAW50355.1
    genomic HC250947.1 CBJ05771.1
    genomic HC311136.1 CBJ21223.1
    mRNA AF011387.1 AAC39546.1
    mRNA AF043294.2 AAB97855.2
    mRNA AF046078.1 AAC12729.1
    mRNA AF047471.1 AAC03122.1
    mRNA AF053305.1 AAC06259.1
    mRNA AI635394.1 None
    mRNA AK023540.1 None
    mRNA AK225317.1 None
    mRNA AK291221.1 BAF83910.1
    mRNA AK302418.1 BAG63724.1
    mRNA BC017038.1 AAH17038.1
    mRNA BC028201.1 AAH28201.1
    mRNA BP313176.1 None
    mRNA DB453210.1 None
    other-genetic JF432720.1 ADZ15937.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43683.1 GenPept UniProtKB/Swiss-Prot:O43683
    Q9BXX5 GenPept UniProtKB/TrEMBL:Q9BXX5
    Help top of page

    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...