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FLASH GENE
Symbol BUB1 contributors: mct - updated : 02-02-2010
HGNC name budding uninhibited by benzimidazoles 1 homolog (yeast)
HGNC id 1148
Location 2q13      Physical location : 111.395.410 - 111.435.684
Synonym name
  • mitotic spindle assembly checkpoint gene 1
  • kinetochore-associated checkpoint kinase 1
  • putative serine/threonine-protein kinase
  • mitotic checkpoint serine/threonine-protein kinase BUB1
    • Synonym symbol(s) BUB1B, BUB1A, BUB1L
    EC.number 2.7.11.1
    DNA
    TYPE functioning gene
    STRUCTURE 40.28 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - [D2S176 , BUB1 , D2S1897 , D2S293 ] - D2S2269 - D2S1896 - IL1A - D2S1895 - D2S2806 - qter
    Authors Pangilinan (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 3509 122.24 1085 - 2009 19487456
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   lowly
     thymus    
    Digestiveintestinelarge intestinecolon lowly
     intestinesmall intestine   
    Reproductivefemale systemovary   
     male systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle, checkpoint, G2M
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal non-kinase domain recruits SAC components to kinetochore
  • two conserved domains, CD1 directing kinetochore localization and CD2 encoding a serine/threonine kinase activity
  • a region containing a cyclin destruction box sequence
  • a nuclear localization signal (NLS) between them
  • a conserved motif (AAs 458-476) essential for spindle checkpoint signaling but does not regulate chromosome alignment
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae bub1p
    Homologene
    FAMILY
  • protein kinase superfamily
  • Ser/Thr protein kinase family
  • BUB1 subfamily
    • CATEGORY enzyme , regulatory , receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,kinetochore
    basic FUNCTION
  • modulating the timing of anaphase initiation in mitotic cells with improperly aligned chromosomes
  • contributing to a specific driving force in tumor metastasis and progression as a result of nonmutational, as well as mutational inactivation
  • protecting centromeric cohesion through shugoshin like (SGOL1, SGOL2) in mitosis
  • important for mediating cell death when chromosomes missegregate
  • having an essential role for postimplantation embryogenesis and proliferation of primary embryonic fibroblasts
  • maintains centromeric cohesion by activation of the spindle checkpoint
  • kinetochore-bound protein kinase performing two crucial functions during mitosis: it is essential for spindle checkpoint signaling and for correct chromosome alignment
  • can regulate chromosome segregation in a kinetochore-independent manner, albeit at lower efficiency
  • its kinase activity is crucial for chromosome alignment but plays only a minor role in spindle checkpoint signaling
  • required for the localization of shugoshin
  • together with BUB3, has a specific function in promoting the conversion from chromosome mono-orientation to bi-orientation
    • CELLULAR PROCESS cell cycle, division, mitosis
    cell cycle, checkpoint
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text monitoring the attachment of chromosomes to spindle poles
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with BUB3, anaphase promoting complex
  • member of the SAC complex (spindle assembly checkpoint)
  • component of the spindle assembly checkpoint (SAC), a surveillance mechanism that ensures genome stability by delaying anaphase until all the chromosomes are stably attached to spindle microtubules via their kinetochores
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BUB3
  • CENPE
  • CENPF
  • phosphorylation of Bub1 at T609 by Cdk1 creates a docking site for the PBD of Plk1 and facilitates the kinetochore recruitment of Plk1
  • Bub1 and Aurora B appear to function in parallel pathways that promote formation of stable bipolar kinetochore-microtubule attachments
  • CASC5 directly links spindle checkpoint proteins BUB1B and BUB1 to kinetochores and is required for spindle checkpoint and chromosome alignment (association of the amino and middle domain of CASK5 with the TPR domains in the N- termini of BUB1B and BUB1 is essential for BUB1B and BUB1 to execute their distinct mitotic functions)
  • interacting with TP73 (has a role in regulating SAC functions during meiosis and mitosis)
  • regulates SGOL1 protein levels through a mechanism that does not involve APC/C-mediated degradation
    • cell & other
    REGULATION
    inhibited by budding uninhibited by benzimidazoles
    Other phosphorylation at T566 plays an important role for the degradation of BUB1 in anaphase, and is required for adaptation of the spindle checkpoint to prolonged mitotic arrest
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in colon carcinioma with lymph node metastasis
    tumoral   deletion    
    in leukemia and lymphoma
    constitutional     --low  
    partial but not complete depletion of BUB1 activates caspase-independent mitotic death (CIMD)
    constitutional       loss of function
    loss of spindle assembly checkpoint proteins, such as BUB1 and MAD2L1, may cause spontaneous miscarriages
    Susceptibility susceptibility to various cancers
    Variant & Polymorphism SNP 4SNP
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS