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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BUB1B Gene

protein-coding   GIFtS: 63
GCID: GC15P040453

BUB1 mitotic checkpoint serine/threonine kinase B

(Previous names: budding uninhibited by benzimidazoles 1 (yeast homolog),...)
 Explore 39 diseases affiliated with
BUB1B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BUB1B    

Aliases
for BUB1B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
BUB1 Mitotic Checkpoint Serine/Threonine Kinase B1 2     Budding Uninhibited By Benzimidazoles 1 (Yeast Homolog), Beta1
BUBR11 2 3 5     Budding Uninhibited By Benzimidazoles 1 Homolog Beta (Yeast)1
MAD3L1 2 3     BUB1beta2
SSK11 2 3     MVA12
Bub1A1 2     Budding Uninhibited By Benzimidazoles 1 Homolog Beta2
Mitotic Checkpoint Kinase MAD3L2 3     Mitotic Checkpoint Serine/Threonine-Protein Kinase BUB1 Beta2
HBUBR11     EC 2.7.11.13
MAD3/BUB1-Related Protein Kinase2 3     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


Summaries
for BUB1B gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for BUB1B:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
 Regulatory elements:
   SABiosciences 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 plasmid: BUB1B promoter sequence
   Search SABiosciences Chromatin IP Primers for BUB1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for BUB1B gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, centrosome.
Note=Cytoplasmic in interphase cells. Associates with the kinetochores in early prophase. Kinetochore localization
requires BUB1, PLK1 and 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60566

    • BUB1B Protein expression data from MOPED and PaxDb:    About this image 
    BUB1B Protein Expression
    REFSEQ proteins: NP_001202.4  
    ENSEMBL proteins: 
     ENSP00000287598   ENSP00000453861   ENSP00000398470   ENSP00000453643  
    Reactome Protein details: O60566
    Human Recombinant Protein Products for BUB1B: 
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    Novus Biologicals BUB1B Proteins
    Novus Biologicals BUB1B Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BUB1B

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (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



    BUB1B Antibody Products: 
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    Uscn ELISAs and CLIAs for BUB1B

    Protein Domains /
    Families
    for BUB1B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BUB1B for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015661 Bub1/Mad3
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_cat_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


    Function
    for BUB1B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity NAS9763420
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    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 

         14 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Bub1b):
     adipose tissue  cellular  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     reproductive system  skeleton  tumorigenesis  vision/eye 

    BUB1B for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Bub1btm1.1Jvd for BUB1B
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BUB1B 

    miRNA
    Products:            		 OriGene 3'-UTR Clone: BUB1B
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BUB1B
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate BUB1B:
    hsa-miR-520d-5p hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmid: BUB1B 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BUB1B (see all 4)
    OriGene shRNA RFP: BUB1B
    OriGene siRNA: BUB1B
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    Sirion Biotech Custom design and validation of potent shRNA sequences against BUB1B 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of BUB1B 
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BUB1B (see all 2)
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BUB1B


    Pathways & Interactions
    for BUB1B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ubiquitinated Orc1 is degraded by the proteasome
    		Degradation multiubiquitinated Cyclin A0.69
    		Regulation of APC/C activators between G1/S and early anaphase0.62
    		Cdc20:Phospho-APC/C mediated degradation of Cyclin A0.69
    		Regulation of mitotic cell cycle0.58
    		APC/C:Cdc20 mediated degradation of mitotic proteins0.69
    		APC/C-mediated degradation of cell cycle proteins0.58
    		Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins0.68
    		Cell Cycle Checkpoints0.42
    2M Phase
    		M Phase1.00
    		Mitotic Anaphase0.85
    		Mitotic M-M/G1 phases0.88
    		Separation of Sister Chromatids0.80
    		Mitotic Metaphase and Anaphase0.85
    3APC-Cdc20 mediated degradation of Nek2A
    		Degradation of multiubiquitinated Nek2A1.00
    		Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components0.78
    		APC-Cdc20 mediated degradation of Nek2A1.00
    		Mitotic Spindle Checkpoint0.75
    		Inactivation of APC/C via direct inhibition of the APC/C complex0.78
    4Resolution of Sister Chromatid Cohesion
    		Resolution of Sister Chromatid Cohesion1.00
    		Mitotic Prometaphase0.93
    		Kinetochore assembly0.96
    5Cell Cycle
    		Cell Cycle1.00
    		Cell Cycle, Mitotic0.84

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for BUB1B
        Cell cycle Role of APC in cell cycle regulation


    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

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

    5/23        Reactome Pathways for BUB1B (see all 23)
        Mitotic Prometaphase
    Resolution of Sister Chromatid Cohesion
    APC/C:Cdc20 mediated degradation of mitotic proteins
    Cell Cycle
    M Phase


    1         Kegg Pathway  (Kegg details for BUB1B):
        Cell cycle


    BUB1B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BUB1B

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

    5/858 Interacting proteins for BUB1B (O605661, 2, 3 ENSP000002875984) via UniProtKB, MINT, STRING, and/or I2D (see all 858)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT2BQ928312, 3, ENSP000002637544MINT-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
    BUB3O436842, 3, ENSP000003578584MINT-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): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint TAS--
    GO:0000087M phase of mitotic cell cycle TAS--
    GO:0000236mitotic prometaphase TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006468protein phosphorylation ----

    BUB1B for ontologies           About GeneDecksing



    Drugs & Compounds
    for BUB1B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BUB1B for compounds           About GeneDecksing

    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 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)

    Search CenterWatch for drugs/clinical trials and news about BUB1B 

    Transcripts
    for BUB1B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for BUB1B gene: 
    NM_001211.5  

    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 plasmid: BUB1B 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: BUB1B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BUB1B
    Sirion Biotech Custom design and validation of potent shRNA sequences against BUB1B 
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BUB1B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BUB1B

    24/139 AceView cDNA sequences (see all 139):

    BM819116 AF107297 AA194971 BX281299 BU155180 BE882850 AF046079 AI954788 
    AA488460 AF068760 AA812042 AA252443 NM_001211 CB160922 AA251909 AW452190 
    BU195374 BC018739 BF514149 CA412465 AA358471 T24747 AA490909 AA715728 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for BUB1B gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    BUB1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyS-shaped BodyKidney Endothelial CellsEndothelium
    OvaryAntral FollicleSecondary OocyteFemale Gametocytes, Germ Cells
    BrainMedulla OblongataBrain
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Adult human kidney epithelial cells (Primary Cell)Kidney

    See BUB1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BUB1B

    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
    for BUB1B gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BUB1B gene from 9/25 species (see all 25)    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 80.48(n)1
    76.96(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 63.55(n)
    56.06(a)    		   378922  NM_204403.1  NP_989734.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BUB1B6
    		 --
    		 49(a)
    		 1 ↔ 1
    		 GL343264.1(1455674-1490678)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Bub1b2 BUB1 budding uninhibited by benzimidazoles 1 homolog more 74.99(n)    AY095442.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii sb:cb7301 sb:cb730 54.93(n)
    46.79(a)    		   567006  XM_690292.5  XP_695384.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Bub13 exit from mitosis protein serine/threonine
    kinase    		 31(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea bub-16
    		 yeast BUB homolog family member (bub-1)
    		 11(a)
    		 possible ortholog
    		 I(7251939-7255223)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons BUBR11 checkpoint serine/threonine-protein kinase 46.28(n)
    33.81(a)    		   817921  NM_001202739.1  NP_001189668.1 
    rice
    (Oryza sativa)    		 Liliopsida Os02g01936001 hypothetical protein 41.48(n)
    29.78(a)    		   4328593  NM_001052706.1  NP_001046171.1 


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

    Paralogs
    for BUB1B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BUB1B gene
    BUB12  
    18/39 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



    Genomic Variants
    for BUB1B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/998 NCBI SNPs in BUB1B are shown (see all 998)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289891851,2
    		Cpathogenic24082203(+) TGTTCT/CTGGGG 2 /P /L mis11Minor allele frequency- C:0.00NA 2
    rs289891831,2
    		Cpathogenic24085265(+) GTGCAG/CCTGGA 2 /H /Q mis1 ese33Minor allele frequency- C:0.00NA 4556
    rs289891811,2
    		C,F,Hpathogenic24090199(+) TCACCC/TTTCAG 2 L F mis1 ese310Minor allele frequency- T:0.01EA NS NA 1350
    rs289891871,2
    		C,F,Hpathogenic24100162(+) CCCACG/AAGTTT 2 /Q /R mis1 ese39Minor allele frequency- A:0.02NS EA NA 1178
    rs289891861,2
    		Cpathogenic24126097(+) AGCACC/TGGTAA 2 R * stg11Minor allele frequency- T:0.00NA 2
    rs560797341,2
    		C,Fother24137635(+) GTCCAC/TGCTTC 2 T M mis12Minor allele frequency- T:0.03WA NA 4670
    rs1125378471,2
    		C--17294624(+) TGAGAC/TCAAAA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs5274791,2
    		C,F,H--17295168(+) TCTGAG/ATAGGC 1 -- us2k16Minor allele frequency- A:0.01NS EA NA WA 540
    rs733778351,2
    		C--17295578(+) CAACCA/GAACAA 1 -- us2k12Minor allele frequency- G:0.21WA 120
    rs71624281,2
    		C,F,H--17296012(+) CTCCCA/CACACT 1 -- us2k111Minor allele frequency- C:0.07NS EA NA CSA WA 1212

    HapMap Linkage Disequilibrium report for BUB1B (40453210 - 40513337 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BUB1B: --
    Human Gene Mutation Database (HGMD): BUB1B

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for BUB1B gene

    (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.)
    About This Section
    BUB1B for disorders           About GeneDecksing

    OMIM gene information: 602860   
    OMIM disorders: 114500  257300  176430  
    UniProtKB/Swiss-Prot: BUB1B_HUMAN, O60566
  • Note=Defects in BUB1B are associated with tumor formation
  • Defects in BUB1B are the cause of premature chromatid separation trait (PCS) [MIM:176430]. PCS 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
  • Defects in BUB1B are the cause of mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300]. A severe
    • autosomal recessive developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and
    monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is
    usually more than 25% and is substantially greater than in normal individuals. 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=MVA1 is caused by
    biallelic mutations in the BUB1B gene

    20/39 diseases for BUB1B (see all 39):    About MalaCards
    premature chromatid separation trait    mosaic variegated aneuploidy syndrome    adenomatous polyposis coli    testicular germ cell tumor
    germ cell tumor    oral squamous cell carcinoma    squamous cell carcinoma    adult t-cell leukemia
    chronic lymphocytic leukemia    epithelial ovarian cancer    microcephaly    lymphocytic leukemia
    leukemia/lymphoma    adrenocortical tumor    ovarian cancer    familial breast cancer
    wilms tumor    polyposis    t-cell leukemia    breast cancer

    10/14 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: BUB1B (7 documents)

    Export disorders for BUB1B gene to outside databases

    Publications
    for BUB1B gene

    (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)
    About This Section

    PubMed articles for BUB1B gene, integrated from 9 sources (see all 213):
    (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. (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. (2009)
    3. Polo-like kinase 1 facilitates chromosome alignment during prometaphase through BubR1. (PubMed id 17376779)1, 2, 9 Matsumura S.... Nishida E. (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. (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. (1999)
    6. BUBR1 phosphorylation is regulated during mitotic checkpoint activation. (PubMed id 10593653)1, 2, 9 Li W.... Dai W. (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. (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. (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. (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. (2007)

    External Searches for BUB1B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BUB1B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 701 HGNC: 1149 AceView: BUB1B Ensembl:ENSG00000156970 euGenes: HUgn701
    ECgene: BUB1B Kegg: 701 H-InvDB: BUB1B

    Other Databases showing BUB1B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BUB1B gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BUB1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BUB1B Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for BUB1B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for BUB1B gene:
    Search GeneIP for patents involving BUB1B

    GeneCards and IP:
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