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BUB1 Gene

protein-coding   GIFtS: 70
GCID: GC02M111395

BUB1 Mitotic Checkpoint Serine/Threonine Kinase

(Previous names: budding uninhibited by benzimidazoles 1 (yeast homolog),...)
(Previous symbol: BUB1L)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BUB1 Mitotic Checkpoint Serine/Threonine Kinase1 2     BUB1 Budding Uninhibited By Benzimidazoles 1 Homolog2
BUB1L1 2 3     Budding Uninhibited By Benzimidazoles 1 Homolog2
BUB1A2 3     Mitotic Checkpoint Serine/Threonine-Protein Kinase BUB12
hBUB12 3     Mitotic Spindle Checkpoint Kinase2
Budding Uninhibited By Benzimidazoles 1 (Yeast Homolog)1     Putative Serine/Threonine-Protein Kinase2
Budding Uninhibited By Benzimidazoles 1 Homolog (Yeast)1     EC 2.7.11.13

External Ids:    HGNC: 11481   Entrez Gene: 6992   Ensembl: ENSG000001696797   OMIM: 6024525   UniProtKB: O436833   

Export aliases for BUB1 gene to outside databases

Previous GC identifers: GC02M108625 GC02M109316 GC02M111302 GC02M111490 GC02M111111 GC02M104274


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BUB1 Gene:
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)

GeneCards Summary for BUB1 Gene:
BUB1 (BUB1 mitotic checkpoint serine/threonine kinase) is a protein-coding gene. Diseases associated with BUB1 include colorectal cancer with chromosomal instability, and mosaic variegated aneuploidy syndrome 1. GO annotations related to this gene include protein serine/threonine kinase activity and protein kinase activity. An important paralog of this gene is BUB1B.

UniProtKB/Swiss-Prot: BUB1_HUMAN, O43683
Function: Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for
spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of
checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and
MAD2L1. Required for the kinetochore localization of PLK1. Plays an important role in defining SGOL1 localization
and thereby affects sister chromatid cohesion. Acts as a substrate for anaphase-promoting complex or cyclosome
(APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and
binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent
manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of APC/C when
spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating
its activator CDC20. This complex can also phosphorylate MAD1L1. Kinase activity is essential for inhibition of
APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint
activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous
tumorigenesis

Gene Wiki entry for BUB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the BUB1 gene promoter:
         POU2F1   AML1a   POU2F1a   c-Myb   Tal-1beta   ITF-2   Gfi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBUB1 promoter sequence
   Search Chromatin IP Primers for BUB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BUB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q14   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q13

BUB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BUB1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M111395:  view genomic region     (about GC identifiers)

Start:
111,395,275 bp from pter      End:
111,435,691 bp from pter
Size:
40,417 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BUB1_HUMAN, O43683 (See protein sequence)
Recommended Name: Mitotic checkpoint serine/threonine-protein kinase BUB1  
Size: 1085 amino acids; 122375 Da
Subunit: Interacts with BUB3 and CASC5. Interacts (when phosphorylated) with PLK1. The BUB1-BUB3 complex interacts
with MAD1L1. Interacts with SV40 Large T antigen; this interaction induces activation of a DNA damage response
and promotes p53/TP53 stabilization and phosphorylation (Probable)
3 PDB 3D structures from and Proteopedia for BUB1:
2LAH (3D)        3E7E (3D)        4A1G (3D)    
Secondary accessions: O43430 O43643 O60626 Q53QE4

Explore the universe of human proteins at neXtProt for BUB1: NX_O43683

Explore proteomics data for BUB1 at MOPED

Post-translational modifications: 

  • Upon spindle-assembly checkpoint activation it is hyperphosphorylated and its kinase activity toward CDC20 is
    stimulated. Phosphorylation at Thr-609 is required for interaction with PLK1, phosphorylation at this site
    probably creates a binding site for the POLO-box domain of PLK1, thus enhancing the PLK1-BUB1 interaction1
  • Ubiquitinated and degraded during mitotic exit by APC/C-Cdh11
  • Ubiquitination2 at Lys175, Lys299
  • Modification sites at PhosphoSitePlus

  • See BUB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001265545.1  NP_001265546.1  NP_004327.1  

    ENSEMBL proteins: 
     ENSP00000386701   ENSP00000302530   ENSP00000402883   ENSP00000409713   ENSP00000392219  
     ENSP00000441013  
    Reactome Protein details: O43683

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: budding uninhibited by benzimidazoles 1 homolog (yeast)
    Bub family

    Selected InterPro protein domains (see all 6):
     IPR015661 Bub1/Mad3
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry O43683

    ProtoNet protein and cluster: O43683

    UniProtKB/Swiss-Prot: BUB1_HUMAN, O43683
    Domain: The KEN box is required for its ubiquitination and degradation
    Domain: BUB1 N-terminal domain directs kinetochore localization and binding to BUB3
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. BUB1 subfamily
    Similarity: Contains 1 BUB1 N-terminal domain
    Similarity: Contains 1 protein kinase domain


    BUB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BUB1_HUMAN, O43683
    Function: Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for
    spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of
    checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and
    MAD2L1. Required for the kinetochore localization of PLK1. Plays an important role in defining SGOL1 localization
    and thereby affects sister chromatid cohesion. Acts as a substrate for anaphase-promoting complex or cyclosome
    (APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and
    binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent
    manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of APC/C when
    spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating
    its activator CDC20. This complex can also phosphorylate MAD1L1. Kinase activity is essential for inhibition of
    APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint
    activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous
    tumorigenesis
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Autophosphorylated when the cells enters mitosis
    Induction: Inhibited by phorbol 12-myristate 13-acetate (PMA)

         Genatlas biochemistry entry for BUB1:
    budding inhibited by benzidimidazoles,mitotic spindle assembly checkpoint gene 1,homolog of yeast Bub1p,expressed
    in testis and thymus,colon and small intestine,modulating the timing of anaphase initiation in mitotic cells with
    improperly aligned chromosomes,rarely mutated in colorectal and other cancers

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity TAS10198256
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0005515protein binding IPI10198256
    GO:0005524ATP binding IEA--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    BUB1 for ontologies           About GeneDecksing


    Phenotypes:
         9 GenomeRNAi human phenotypes for BUB1:
     Decreased focal adhesion (FA)   Decreased mitotic index  Decreased substrate adherent c  Decreased viability with TRAIL 
     Enable proliferation in B-Raf   Increased cell death in HCC-19  Increased cell number in G1, s  Synthetic lethal with paclitax 
     Upregulation of Wnt/beta-caten 

         13 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Bub1):
     cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  no phenotypic analysis  normal 
     other  reproductive system  tumorigenesis 

    BUB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BUB1: Bub1tm1.1Tvd Bub1tm1.1Ssta Bub1tm1.1Jvd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BUB1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BUB1

    miRNA
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    miRTarBase miRNAs that target BUB1:
    hsa-mir-196a-5p (MIRT048279), hsa-mir-450a-1-3p (MIRT007183), hsa-mir-186-5p (MIRT045266), hsa-mir-196b-5p (MIRT042691)

    Block miRNA regulation of human, mouse, rat BUB1 using miScript Target Protectors
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BUB1_HUMAN, O43683: Nucleus. Chromosome, centromere, kinetochore. Note=Nuclear in interphase cells. Accumulates
    gradually during G1 and S phase of the cell cycle, peaks at G2/M, and drops dramatically after mitosis. Localizes
    to the outer kinetochore. Kinetochore localization is required for normal mitotic timing and checkpoint response
    to spindle damage and occurs very early in prophase. AURKB, CASC5 and INCENP are required for kinetochore
    localization (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton3

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region ----
    GO:0000776kinetochore IDA15020684
    GO:0000777condensed chromosome kinetochore IDA19465021
    GO:0000780condensed nuclear chromosome, centromeric region IEA--
    GO:0005634nucleus IDA--

    BUB1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BUB1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    3Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    4Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92
    5Oocyte meiosis
    Oocyte meiosis0.35
    Progesterone-mediated oocyte maturation0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for BUB1
        Cell cycle Role of APC in cell cycle regulation

    3 BioSystems Pathways for BUB1
        Cell cycle
    PLK1 signaling events
    Aurora B signaling


    3 Reactome Pathways for BUB1
        Resolution of Sister Chromatid Cohesion
    Mitotic Prometaphase
    Separation of Sister Chromatids


    3 Kegg Pathways  (Kegg details for BUB1):
        Cell cycle
    Oocyte meiosis
    Progesterone-mediated oocyte maturation


    BUB1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BUB1
    Interactions:

        GeneGlobe Interaction Network for BUB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BUB1 (O436831, 2, 3 ENSP000003025304) via UniProtKB, MINT, STRING, and/or I2D (see all 1075)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4CP628053, ENSP000003670344I2D: score=1 STRING: ENSP00000367034
    HIST1H4DP628053, ENSP000003432824I2D: score=1 STRING: ENSP00000343282
    HIST1H4EP628053, ENSP000003536244I2D: score=1 STRING: ENSP00000353624
    HIST1H4HP628053, ENSP000002893524I2D: score=1 STRING: ENSP00000289352
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006468protein phosphorylation ----
    GO:0006915apoptotic process IEA--
    GO:0007059chromosome segregation IEA--
    GO:0007063regulation of sister chromatid cohesion IDA15723797

    BUB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BUB1

    2 HMDB Compounds for BUB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    3 Novoseek inferred chemical compound relationships for BUB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nocodazole 65.5 4 11792804 (2), 15241477 (1), 18451172 (1)
    paclitaxel 32.4 5 11792804 (2), 20407875 (1), 18451172 (1)
    cytosine 14.1 1 11999574 (1)



    BUB1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BUB1 gene (3 alternative transcripts): 
    NM_001278616.1  NM_001278617.1  NM_004336.4  

    Unigene Cluster for BUB1:

    BUB1 mitotic checkpoint serine/threonine kinase
    Hs.469649  [show with all ESTs]
    Unigene Representative Sequence: AK302418
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409311 ENST00000302759(uc002tgc.3 uc010yxh.2 uc010fkb.3)
    ENST00000478175 ENST00000466333 ENST00000490632 ENST00000465029(uc002tgd.2)
    ENST00000477481 ENST00000468927 ENST00000447014 ENST00000420328 ENST00000436916
    ENST00000535254
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      QuantiFast Probe-based Assays in human, mouse, rat BUB1

    Additional mRNA sequence: 

    AF011387.1 AF043294.2 AF046078.1 AF047471.1 AF053305.1 AK023540.1 AK225317.1 AK291221.1 
    AK302418.1 BC017038.1 BC028201.1 

    12 DOTS entries:

    DT.100646001  DT.112990  DT.121000041  DT.97844027  DT.70104702  DT.444542  DT.95263322  DT.95263343 
    DT.102831704  DT.40131760  DT.95263320  DT.100808212 

    Selected AceView cDNA sequences (see all 134):

    AF046078 AU156551 BF062292 AA430092 BM828025 NM_004336 BU186646 AW661857 
    CB149547 AU121568 AK023540 AU123572 BC028201 BM479528 AF043294 BX101106 
    CB159765 AW576327 AI204517 BG576874 BU180986 AA449311 AA315653 BQ232794 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BUB1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^
    SP1:                    -     -     -                                                                             -                                             
    SP2:                    -     -     -                                                                                                                           
    SP3:                          -     -                                                                                                                           
    SP4:                                                                                                                                                            
    SP5:                    -     -     -           -                                                                                                               

    ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
    SP1:                                      -     -                                       
    SP2:                                                                                    
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for BUB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BUB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATGTTGAA
    BUB1 Expression
    About this image


    BUB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Gonad (Reproductive System)    fully expand to see all 3 entries
             Primordial Germ Cells Primitive Gonad
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
             Thymus
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
    BUB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BUB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469649

    UniProtKB/Swiss-Prot: BUB1_HUMAN, O43683
    Tissue specificity: High expression in testis and thymus, less in colon, spleen, lung and small intestine.
    Expressed in fetal thymus, bone marrow, heart, liver, spleen and thymus. Expression is associated with
    cells/tissues with a high mitotic index

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BUB1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bub11 , 5 budding uninhibited by benzimidazoles 1 homolog (S. more1, 5 82.23(n)1
    74.01(a)1
      2 (62.10 cM)5
    122351  NM_001113179.11  NP_001106650.11 
     1278011225 
    chicken
    (Gallus gallus)
    Aves BUB11 budding uninhibited by benzimidazoles 1 homolog (yeast) 57.44(n)
    46.55(a)
      421226  NM_001012870.1  NP_001012888.1 
    lizard
    (Anolis carolinensis)
    Reptilia BUB16
    BUB1 mitotic checkpoint serine/threonine kinase
    41(a)
    1 ↔ 1
    GL343727.1(3551-48645)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982342 spindle checkpoint protein Bub1 71.96(n)    AF348328.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bub11 BUB1 mitotic checkpoint serine/threonine kinase 51.43(n)
    45.4(a)
      100307076  XM_002665639.3  XP_002665685.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG140303 protein amino acid phosphorylation
    protein kinase
    35(a)
    (best of 2)
      25D3   --
    worm
    (Caenorhabditis elegans)
    Secernentea bub-13 Eukaryotic protein kinase domain 25(a)   I(7260012-7263196)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BUB1(YGR188C)4 Protein kinase involved in the cell cycle checkpoint more   --   7(875109-872044) 853100  NP_011704.1 


    ENSEMBL Gene Tree for BUB1 (if available)
    TreeFam Gene Tree for BUB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BUB1 gene
    BUB1B2  

    BUB1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BUB1
    PGOHUM00000238967


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for BUB1 (see all 774)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18013281,2,,4
    CColorectal cancer4 --110945151(-) GAAGAG/TAATTT 2 E D mis11Minor allele frequency- T:0.00NA 2
    VAR_0156874
    Pancreatic cancer4--see VAR_0156872 Y C mis40--------
    VAR_0088514
    Colorectal cancer4--see VAR_0088512 P R mis40--------
    VAR_0088504
    Colorectal cancer4--see VAR_0088502 S Y mis40--------
    VAR_0156884
    Pancreatic cancer4--see VAR_0156882 H N mis40--------
    rs2014948121,2
    Cuntested1110920227(+) CATTGC/TCATTC 2 * W stg10--------
    rs1470888221,2
    C--104302280(+) ATGTT-/TGTGTGT 1 -- int10--------
    rs1456136911,2
    C--110908446(+) ACTTCA/GTAGAG 1 -- ds50010--------
    rs1814519321,2
    --110908480(+) AAGGAA/CAGGCA 1 -- ds50010--------
    rs765295111,2
    C--110908491(+) AGCTTC/TATTCA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for BUB1 (111395275 - 111435691 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for BUB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv874838CNV Loss21882294
    nsv521956CNV Loss19592680
    nsv874837CNV Loss21882294
    nsv874839CNV Gain21882294

    Human Gene Mutation Database (HGMD): BUB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BUB1
    DNA2.0 Custom Variant and Variant Library Synthesis for BUB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602452    OMIM disorders: --

    Selected diseases for BUB1 (see all 30):    
    About MalaCards
    colorectal cancer with chromosomal instability    mosaic variegated aneuploidy syndrome 1    polyploidy    conduct disorder
    leukemia/lymphoma, t-cell    stomach cancer    adult t-cell leukemia    oral cancer
    t-cell leukemia    alcohol dependence    thyroid cancer    kaposi's sarcoma
    pancreatic cancer    endometrial carcinoma    hepatocellular carcinoma    colorectal cancer
    acute myeloid leukemia    pancreatitis    choroiditis    thyroiditis


    BUB1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for BUB1 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microsatellite instability 39.3 3 10960763 (2), 9521327 (1)
    colorectal tumors 38.6 2 10395177 (1), 10960763 (1)
    cancer 38.5 22 10543255 (3), 16525682 (2), 10773412 (1), 14732683 (1) (see all 16)
    gastric carcinoma 30.6 12 11410785 (4), 11641614 (4), 12692836 (1)
    colorectal cancer 30.2 10 10969775 (2), 10773412 (1), 11115566 (1), 15162061 (1) (see all 8)
    tumors 22.2 28 16525682 (3), 10992296 (2), 10543255 (2), 10969775 (2) (see all 14)
    solid tumor 17.4 1 14517964 (1)
    carcinoma 15.4 17 11115566 (4), 11782350 (2), 16525682 (1), 18383837 (1)
    somatic mutations 14.3 2 14517964 (1), 10992296 (1)
    colon cancer 14.2 2 10773412 (1), 10835495 (1)

    Genetic Association Database (GAD): BUB1
    Human Genome Epidemiology (HuGE) Navigator: BUB1 (3 documents)

    Export disorders for BUB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BUB1 gene, integrated from 10 sources (see all 173):
    (articles sorted by number of sources associating them with BUB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. KEN-box-dependent degradation of the Bub1 spindle checkpoint kinase by the anaphase-promoting complex/cyclosome. (PubMed id 17158872)1, 2, 9 Qi W. and Yu H. (J. Biol. Chem. 2007)
    2. Human Bub1: a putative spindle checkpoint kinase closely linked to cell proliferation. (PubMed id 9790499)1, 2, 9 Ouyang B.... Dai W. (Cell Growth Differ. 1998)
    3. Phosphorylation- and polo-box-dependent binding of Plk1 to Bub1 is required for the kinetochore localization of Plk1. (PubMed id 16760428)1, 2, 9 Qi W.... Yu H. (Mol. Biol. Cell 2006)
    4. The human homologue of Bub3 is required for kinetochore localization of Bub1 and a Mad3/Bub1-related protein kinase. (PubMed id 9660858)1, 2, 9 Taylor S.S.... McKeon F. (J. Cell Biol. 1998)
    5. Bub1 regulates chromosome segregation in a kinetochore-independent manner. (PubMed id 19487456)1, 2, 9 Klebig C.... Meraldi P. (J. Cell Biol. 2009)
    6. A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T. (PubMed id 12655561)1, 2, 9 Hempen P.M.... Kern S.E. (Hum. Mutat. 2003)
    7. Phosphorylation of Cdc20 by Bub1 provides a catalytic mechanism for APC/C inhibition by the spindle checkpoint. (PubMed id 15525512)1, 2, 9 Tang Z.... Yu H. (Mol. Cell 2004)
    8. Simian virus 40 large T antigen disrupts genome integrity and activates a DNA damage response via Bub1 binding. (PubMed id 18922873)1, 2, 9 Hein J.... Gjoerup O.V. (J. Virol. 2009)
    9. Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1. (PubMed id 17981135)1, 2, 9 Kiyomitsu T.... Yanagida M. (Dev. Cell 2007)
    10. Phosphorylation of human MAD1 by the BUB1 kinase in vitro. (PubMed id 10198256)1, 2, 9 Seeley T.W.... Zhen J.Y. (Biochem. Biophys. Res. Commun. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 699 HGNC: 1148 AceView: BUB1 Ensembl:ENSG00000169679 euGenes: HUgn699
    ECgene: BUB1 Kegg: 699 H-InvDB: BUB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BUB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BUB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BUB1 gene:
    Search GeneIP for patents involving BUB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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