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BUB1B Gene

protein-coding   GIFtS: 69
GCID: GC15P040453

BUB1 Mitotic Checkpoint Serine/Threonine Kinase B

(Previous names: budding uninhibited by benzimidazoles 1 (yeast homolog),...)
  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 Kinase B1 2     Budding Uninhibited By Benzimidazoles 1 (Yeast Homolog), Beta1
BUBR12 3 5     Budding Uninhibited By Benzimidazoles 1 Homolog Beta (Yeast)1
Mitotic Checkpoint Kinase MAD3L2 3     BUB1beta2
MAD3L2 3     Bub1A2
SSK12 3     Budding Uninhibited By Benzimidazoles 1 Homolog Beta2
hBUBR12 3     Mitotic Checkpoint Serine/Threonine-Protein Kinase BUB1 Beta2
MAD3/BUB1-Related Protein Kinase2 3     EC 2.7.11.13
MVA12 5     Protein SSK13

External Ids:    HGNC: 11491   Entrez Gene: 7012   Ensembl: ENSG000001569707   OMIM: 6028605   UniProtKB: O605663   

Export aliases for BUB1B gene to outside databases

Previous GC identifers: GC15P035820 GC15P033348 GC15P038032 GC15P038169 GC15P038240 GC15P017296


(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 BUB1B Gene:
This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the
kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the
onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found
in many forms of cancer. (provided by RefSeq, Jul 2008)

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

UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566
Function: Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic
checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its
checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking
the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore
activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively
regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in
triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor
suppression

Gene Wiki entry for BUB1B 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_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the BUB1B gene promoter:
         C/EBPbeta   Spz1   AML1a   AP-4   YY1   GATA-2   HEN1   AREB6   IRF-7A   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBUB1B promoter sequence
   Search Chromatin IP Primers for BUB1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BUB1B


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

Entrez Gene cytogenetic band: 15q15   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q15

BUB1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BUB1B gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P040453:  view genomic region     (about GC identifiers)

Start:
40,453,210 bp from pter      End:
40,513,337 bp from pter
Size:
60,128 bases      Orientation:
plus 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: BUB1B_HUMAN, O60566 (See protein sequence)
Recommended Name: Mitotic checkpoint serine/threonine-protein kinase BUB1 beta  
Size: 1050 amino acids; 119545 Da
Subunit: Interacts with CENPE, CENPF, mitosin, PLK1 and BUB3. Part of a complex containing BUB3, CDC20 and BUB1B.
Interacts with anaphase-promoting complex/cyclosome (APC/C). Interacts with CASC5
Sequence caution: Sequence=BAD92019.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for BUB1B:
2WVI (3D)        3SI5 (3D)        4GGD (3D)    
Secondary accessions: B2R6U0 B4DL09 B4DLG3 O60501 O60627 O60758 O75389 Q59HH6 Q8WV50 Q96KM4
Alternative splicing: 3 isoforms:  O60566-1   O60566-2   O60566-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BUB1B: NX_O60566

Explore proteomics data for BUB1B at MOPED

Post-translational modifications: 

  • Proteolytically cleaved by caspase-3 in a cell cycle specific manner. The cleavage might be involved in the
    durability of the cell cycle delay. Caspase-3 cleavage is associated with abrogation of the mitotic checkpoint.
    The major site of cleavage is at Asp-6101
  • Acetylation at Lys-250 regulates its degradation and timing in anaphase entry1
  • Ubiquitinated. Degraded by the proteasome1
  • Sumoylated with SUMO2 and SUMO3. The sumoylation mediates the association with CENPE at the kinetochore1
  • Autophosphorylated in vitro. Intramolecular autophosphorylation is stimulated by CENPE. Phosphorylated during
    mitosis and hyperphosphorylated in mitotically arrested cells. Phosphorylation at Ser-670 and Ser-1043 occurs at
    kinetochores upon mitotic entry with dephosphorylation at the onset of anaphase1
  • Ubiquitination2 at Lys210, Lys250, Lys995
  • Modification sites at PhosphoSitePlus

  • See BUB1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001202.4  
    ENSEMBL proteins: 
     ENSP00000287598   ENSP00000453861   ENSP00000398470   ENSP00000453643  
    Reactome Protein details: O60566

    BUB1B Human Recombinant Protein Products:

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    BUB1B Assay Products:

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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 beta (yeast)
    Bub family

    4 InterPro protein domains:
     IPR015661 Bub1/Mad3
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_dom
     IPR013212 Mad3_BUB1_I

    Graphical View of Domain Structure for InterPro Entry O60566

    ProtoNet protein and cluster: O60566

    UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566
    Domain: The D-box targets the protein for rapid degradation by ubiquitin-dependent proteolysis during the
    transition from mitosis to interphase (Potential)
    Domain: The 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


    BUB1B 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: BUB1B_HUMAN, O60566
    Function: Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic
    checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its
    checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking
    the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore
    activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively
    regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in
    triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor
    suppression
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Kinase activity stimulated by CENPE
    Induction: Induced during mitosis

         Genatlas biochemistry entry for BUB1B:
    budding inhibited by benzidimidazoles,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,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 NAS9763420
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0005515protein binding IPI11030144
    GO:0005524ATP binding IEA--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    BUB1B for ontologies           About GeneDecksing


    Phenotypes:
         12 GenomeRNAi human phenotypes for BUB1B:
     Decreased mitotic index  Decreased number of cells in m  Decreased substrate adherent c  Increased ID2::GFP protein exp 
     Increased S DNA content  Increased apoptosis  Increased cell death HMECs cel  Increased cell death in breast 
     Increased colony dispersion (i  Increased gamma-H2AX phosphory  Increased number of small and   Paclitaxel antagonistic effect 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Bub1b) (see all 16):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  embryogenesis 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  muscle  reproductive system  skeleton  tumorigenesis 

    BUB1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bub1btm1.1Jvd for BUB1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BUB1B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BUB1B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BUB1B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BUB1B

    miRNA
    Products:
        
    miRTarBase miRNAs that target BUB1B:
    hsa-mir-22-3p (MIRT050455), hsa-mir-215-5p (MIRT024609), hsa-mir-192-5p (MIRT026320), hsa-mir-193b-3p (MIRT016386)

    Block miRNA regulation of human, mouse, rat BUB1B using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate BUB1B:
    hsa-miR-520d-5p hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidBUB1B 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: BUB1B (NM_001211)
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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
    BUB1B_HUMAN, O60566: Cytoplasm. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton,
    microtubule organizing center, centrosome. Note=Cytoplasmic in interphase cells. Associates with the kinetochores
    in early prophase. Kinetochore localization requires BUB1, PLK1 and CASC5
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776colocalizes with kinetochore TAS9660858
    GO:0000777condensed chromosome kinetochore IDA19465021
    GO:0000778condensed nuclear chromosome kinetochore IEA--
    GO:0000940condensed chromosome outer kinetochore IDA19468067
    GO:0005680anaphase-promoting complex TAS10477750

    BUB1B 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 BUB1B About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2CDK-mediated phosphorylation and removal of Cdc6
    APC/C-mediated degradation of cell cycle proteins0.94
    APC/C-Cdc20 mediated degradation of mitotic proteins0.93
    Regulation of APC/C activators between G1/S and early anaphase0.94
    Activation of APC/C and APC/C-Cdc20 mediated degradation of mitotic proteins0.92
    Regulation of mitotic cell cycle0.94
    Cell Cycle Checkpoints0.58
    3Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Inactivation of APC/C via direct inhibition of the APC/C complex
    Inactivation of APC/C via direct inhibition of the APC/C complex0.64
    Mitotic Spindle Checkpoint0.62
    Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for BUB1B
        Cell Cycle / Checkpoint Control

    1 GeneGo (Thomson Reuters) Pathway for BUB1B
        Cell cycle Role of APC in cell cycle regulation

    3 BioSystems Pathways for BUB1B
        Cell cycle
    Integrated Pancreatic Cancer Pathway
    PLK1 signaling events


    5 Reactome Pathways for BUB1B
        Resolution of Sister Chromatid Cohesion
    Mitotic Prometaphase
    Separation of Sister Chromatids
    APC/C:Cdc20 mediated degradation of mitotic proteins
    Inactivation of APC/C via direct inhibition of the APC/C complex


    2 Kegg Pathways  (Kegg details for BUB1B):
        Cell cycle
    HTLV-I infection


    BUB1B for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BUB1B
    Interactions:

        GeneGlobe Interaction Network for BUB1B

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

    Selected Interacting proteins for BUB1B (O605661, 2, 3 ENSP000002875984) via UniProtKB, MINT, STRING, and/or I2D (see all 1051)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT2BQ928311, 2, 3, ENSP000002637544EBI-1001438,EBI-477430 MINT-7299990 MINT-7300008 MINT-7299777 MINT-7299740 MINT-7299797 MINT-7300223 MINT-7300201 MINT-7300263 MINT-7300283 MINT-7300181 MINT-7299749 MINT-7300243 MINT-7299763 I2D: score=2 STRING: ENSP00000263754
    BUB3O436841, 2, 3, ENSP000003578584EBI-1001438,EBI-1050987 MINT-7947479 MINT-7945693 MINT-8183848 MINT-7300323 I2D: score=4 STRING: ENSP00000357858
    ANAPC7Q9UJX32, 3, ENSP000003943944MINT-8413231 MINT-7947479 MINT-8413199 MINT-8413062 I2D: score=3 STRING: ENSP00000394394
    HDAC1Q135472, 3, ENSP000003626494MINT-7947479 MINT-7945693 MINT-7302173 I2D: score=3 STRING: ENSP00000362649
    HDAC2Q927692, 3, ENSP000003813314MINT-7945693 MINT-7302197 MINT-7947479 I2D: score=1 STRING: ENSP00000381331
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006468protein phosphorylation ----
    GO:0006915apoptotic process IEA--
    GO:0007049cell cycle NAS15504738
    GO:0007051spindle organization NAS15504738

    BUB1B 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 BUB1B

    2 HMDB Compounds for BUB1B    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--

    4 Novoseek inferred chemical compound relationships for BUB1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nocodazole 76.2 12 15210851 (1), 19282667 (1), 18451172 (1), 17991869 (1) (see all 10)
    paclitaxel 59.5 20 16227576 (3), 15210851 (2), 15059905 (2), 17234259 (2) (see all 8)
    vinblastine 13.3 1 11274370 (1)
    doxorubicin 3.53 1 15870702 (1)



    BUB1B 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 BUB1B gene: 
    NM_001211.5  

    Unigene Cluster for BUB1B:

    BUB1 mitotic checkpoint serine/threonine kinase B
    Hs.513645  [show with all ESTs]
    Unigene Representative Sequence: NM_001211
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560120 ENST00000287598(uc001zkx.4) ENST00000559414 ENST00000558715
    ENST00000412359(uc010ucl.1) ENST00000559733 ENST00000559461 ENST00000557848
    ENST00000559772 ENST00000558972 ENST00000558151
    miRNA
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    hsa-miR-520d-5p hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidBUB1B 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat BUB1B
      QuantiFast Probe-based Assays in human, mouse, rat BUB1B

    Additional mRNA sequence: 

    AB208782.1 AF035933.1 AF046079.2 AF046918.1 AF053306.1 AF068760.1 AF107297.1 AK296795.1 
    AK296984.1 AK312709.1 BC018739.1 

    10 DOTS entries:

    DT.316223  DT.100724762  DT.121026504  DT.121026472  DT.91741298  DT.100718599  DT.102832111  DT.121026523 
    DT.91741296  DT.95341945 

    Selected AceView cDNA sequences (see all 139):

    CA414260 AA358471 AA715728 AA194971 AI183487 BQ929588 BC018739 CB160922 
    BM982938 BM819116 BE882850 AA334907 BX281299 T24747 CA418173 AI954788 
    AF068760 AW452190 AA252443 CA412465 AA024423 BF514149 BU155180 AF107297 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BUB1B (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
    SP1:                          -                                                           -     -           -     -                       -                     
    SP2:                                                                          -     -     -     -     -     -     -                       -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                    -     -                                                                                                                                 

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


    ECgene alternative splicing isoforms for BUB1B

    (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)
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    BUB1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BUB1B Expression
    About this image


    BUB1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Choroid Plexus Progenitor Cells Choroid Plexus
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
    BUB1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BUB1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513645

    UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566
    Tissue specificity: Highly expressed in thymus followed by spleen. Preferentially expressed in 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 eukaryotes.

    Orthologs for BUB1B gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bub1b1 , 5 budding uninhibited by benzimidazoles 1 homolog, beta more1, 5 80.25(n)1
    76.86(a)1
      2 (59.40 cM)5
    122361  NM_009773.31  NP_033903.21 
     1185982115 
    chicken
    (Gallus gallus)
    Aves BUB1B1 budding uninhibited by benzimidazoles 1 homolog beta more 63.49(n)
    56.05(a)
      378922  NM_204403.1  NP_989734.1 
    lizard
    (Anolis carolinensis)
    Reptilia BUB1B6
    BUB1 mitotic checkpoint serine/threonine kinase B
    47(a)
    1 ↔ 1
    GL343264.1(1455576-1490173)
    African clawed frog
    (Xenopus laevis)
    Amphibia Bub1b2 BUB1 budding uninhibited by benzimidazoles 1 homolog more 74.99(n)    AY095442.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bub1bb1 budding uninhibited by benzimidazoles 1 homolog beta more 54.79(n)
    47.44(a)
      567006  XM_690292.6  XP_695384.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bub13 exit from mitosis protein
    serine/threonine kinase
    31(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea bub-16
    Protein BUB-1 (bub-1) mRNA, complete cds
    14(a)
    1 → many
    I(7251941-7255225) WBGene00000275
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MAD3(YJL013C)4 Subunit of the spindle-assembly checkpoint complex, more   --   10(411040-409493) 853439  NP_012521.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BUBR11 BUBR1 45.73(n)
    33.57(a)
      817921  NM_128916.2  NP_565767.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01936001 Os02g0193600 44.63(n)
    34.97(a)
      4328593  NM_001052706.1  NP_001046171.1 


    ENSEMBL Gene Tree for BUB1B (if available)
    TreeFam Gene Tree for BUB1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BUB1B gene
    BUB12  
    Selected SIMAP similar genes for BUB1B using alignment to 4 protein entries:     BUB1B_HUMAN (see all proteins) (see all similar genes):
    SUN3    C12orf23    FAM3A    LGALS3    TGFBR3    GALK2
    COX7A2    TMEM67    ZNF568    DAPK2    CNOT2    KLHDC1
    LRTOMT    CES4A    MKRN1    THADA    NDUFS7    NSD1

    BUB1B for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for BUB1B (see all 1266)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289891871,2,,4
    C,F,HMosaic variegated aneuploidy syndrome 1 (MVA1)4 pathogenic120562363(+) CCCACG/AAGTTT 2 /Q /R mis1 ese39Minor allele frequency- A:0.02NS EA NA 1178
    rs18015281,2,,4
    C,FColorectal cancer4 --20566056(+) TTTTGT/CATCCA 2 /A /V mis110Minor allele frequency- C:0.08NA NS EA WA EU 6481
    rs289891821,2,,4
    CMosaic variegated aneuploidy syndrome 1 (MVA1)4 pathogenic120572308(+) GGAACG/ATTTAA 2 /H /R mis12Minor allele frequency- A:0.00NA 4
    rs289891811,2,,4
    C,F,HMosaic variegated aneuploidy syndrome 1 (MVA1)4 pathogenic120572397(+) TCACCC/TTTCAG 2 L F mis1 ese310Minor allele frequency- T:0.01EA NS NA 1350
    rs289891841,2,,4
    CMosaic variegated aneuploidy syndrome 1 (MVA1)4 --20577297(+) GAAGAT/CAGTGG 2 /T /I mis1 ese32Minor allele frequency- C:0.00NA 4
    rs289891831,2,,4
    CMosaic variegated aneuploidy syndrome 1 (MVA1)4 pathogenic120577334(+) GTGCAG/CCTGGA 2 /H /Q mis1 ese33Minor allele frequency- C:0.00NA 4556
    rs289891851,2,,4
    CMosaic variegated aneuploidy syndrome 1 (MVA1)4 pathogenic120580395(+) TGTTCT/CTGGGG 2 /P /L mis11Minor allele frequency- C:0.00NA 2
    VAR_0289214
    Premature chromatid separation trait (PCS)4--see VAR_0289212 R Q mis40--------
    VAR_0088524
    A colorectal cancer cell line4--see VAR_0088522 M T mis40--------
    rs289891861,2
    Cpathogenic120536425(+) AGCACC/TGGTAA 2 R * stg11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for BUB1B (40453210 - 40513337 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for BUB1B: --
    Human Gene Mutation Database (HGMD): BUB1B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BUB1B
    DNA2.0 Custom Variant and Variant Library Synthesis for BUB1B

    (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: 602860   
    OMIM disorders: 114500  257300  176430  
    UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566
  • Note=Defects in BUB1B are associated with tumor formation
  • Premature chromatid separation trait (PCS) [MIM:176430]: Consists of separate and splayed chromatids with
    discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of
    metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or
    more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have
    reported decreased fertility. Inheritance is autosomal dominant. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]: A severe developmental disorder
    characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different
    chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and
    microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional
    congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with
    rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. Note=The disease is caused by mutations
    affecting the gene represented in this entry. MVA1 is caused by biallelic mutations in the BUB1B gene

  • Selected diseases for BUB1B (see all 38):    
    About MalaCards
    mosaic variegated aneuploidy syndrome 1    premature chromatid separation trait    mosaic variegated aneuploidy syndrome    colorectal cancer, somatic
    polyploidy    microcephaly    colon adenocarcinoma    familial breast cancer
    testicular germ cell tumor    adult t-cell leukemia    germ cell tumors    wilms tumor
    lung cancer susceptibility    thyroid cancer    rhabdomyosarcoma    t-cell leukemia
    breast cancer    oral squamous cell carcinoma    adenocarcinoma    ovarian cancer


    BUB1B for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for BUB1B gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microcephaly 42.1 2 18932004 (1)
    microsatellite instability 41.6 2 10960763 (2)
    cancer 41 24 18691855 (3), 12445743 (2), 17991869 (2), 17464181 (2) (see all 14)
    childhood cancer 26.6 2 19503101 (1)
    chromosomal aberrations 24 1 10960763 (1)
    colon adenocarcinoma 22.9 1 14706340 (1)
    colorectal cancer 21.9 1 11782350 (1)
    tumors 20.8 32 17350465 (3), 17242465 (2), 14744753 (2), 18791270 (2) (see all 13)
    colon cancer 16.7 2 15000146 (1), 10835495 (1)
    cancer lung 2.88 9 10835495 (6), 11146226 (2), 12445743 (1)

    Genetic Association Database (GAD): BUB1B
    Human Genome Epidemiology (HuGE) Navigator: BUB1B (7 documents)

    Export disorders for BUB1B 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 BUB1B gene, integrated from 10 sources (see all 235):
    (articles sorted by number of sources associating them with BUB1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The mouse mitotic checkpoint gene bub1b, a novel bub1 family member, is expressed in a cell cycle-dependent manner. (PubMed id 9889005)1, 2, 3, 9 Davenport J.W.... Goorha R. (Genomics 1999)
    2. BubR1 acetylation at prometaphase is required for modulating APC/C activity and timing of mitosis. (PubMed id 19407811)1, 2, 9 Choi E.... Lee H. (EMBO J. 2009)
    3. Polo-like kinase 1 facilitates chromosome alignment during prometaphase through BubR1. (PubMed id 17376779)1, 2, 9 Matsumura S.... Nishida E. (J. Biol. Chem. 2007)
    4. Caspase-mediated specific cleavage of BubR1 is a determinant of mitotic progression. (PubMed id 16227576)1, 2, 9 Kim M....Kao G.D. (Mol. Cell. Biol. 2005)
    5. Human BUBR1 is a mitotic checkpoint kinase that monitors CENP-E functions at kinetochores and binds the cyclosome/APC. (PubMed id 10477750)1, 2, 9 Chan G.K.... Yen T.J. (J. Cell Biol. 1999)
    6. BUBR1 phosphorylation is regulated during mitotic checkpoint activation. (PubMed id 10593653)1, 2, 9 Li W.... Dai W. (Cell Growth Differ. 1999)
    7. BubR1 localizes to centrosomes and suppresses centrosome amplification via regulating Plk1 activity in interphase cells. (PubMed id 19503101)1, 2, 9 Izumi H.... Matsuura S. (Oncogene 2009)
    8. Depletion of BubR1 promotes premature centrosomal localization of cyclin B1 and accelerates mitotic entry. (PubMed id 19411850)1, 2, 9 Park S.-Y....Cho H. (Cell Cycle 2009)
    9. Phosphorylation sites in BubR1 that regulate kinetochore attachment, tension, and mitotic exit. (PubMed id 19015317)1, 2, 9 Huang H.... Yen T.J. (J. Cell Biol. 2008)
    10. 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)

    (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: 701 HGNC: 1149 AceView: BUB1B Ensembl:ENSG00000156970 euGenes: HUgn701
    ECgene: BUB1B Kegg: 701 H-InvDB: BUB1B

    (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)
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    NameDescription
    PharmGKB entry for BUB1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BUB1B 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 BUB1B gene:
    Search GeneIP for patents involving BUB1B

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



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