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BUB3 Gene

protein-coding   GIFtS: 70
GCID: GC10P124903

BUB3 Mitotic Checkpoint Protein

(Previous names: BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog,...)
  See BUB3-related disease
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
BUB3 Mitotic Checkpoint Protein1 2     Budding Uninhibited By Benomyl2
BUB3 (Budding Uninhibited By Benzimidazoles 3, Yeast) Homolog1     Budding Uninhibited By Benzimidazoles 3 Homolog2
Budding Uninhibited By Benzimidazoles 3 Homolog (Yeast)1     hBUB32
BUB3L2     Mitotic Checkpoint Component2
BUB3 Budding Uninhibited By Benzimidazoles 3 Homolog2     Mitotic Checkpoint Protein BUB32

External Ids:    HGNC: 11511   Entrez Gene: 91842   Ensembl: ENSG000001544737   OMIM: 6037195   UniProtKB: O436843   

Export aliases for BUB3 gene to outside databases

Previous GC identifers: GC10P123930 GC10P124163 GC10P124920 GC10P124454 GC10P118531


(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 BUB3 Gene:
This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat
domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants,
encoding different isoforms, have been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for BUB3 Gene:
BUB3 (BUB3 mitotic checkpoint protein) is a protein-coding gene. Diseases associated with BUB3 include mosaic variegated aneuploidy syndrome 1. An important paralog of this gene is RAE1.

UniProtKB/Swiss-Prot: BUB3_HUMAN, O43684
Function: Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of
correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments.
Necessary for kinetochore localization of BUB1. Regulates chromosome segregation during oocyte meiosis. The
BUB1/BUB3 complex plays a role in the inhibition of anaphase-promoting complex or cyclosome (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

Gene Wiki entry for BUB3 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 at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the BUB3 gene promoter:
         p53   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBUB3 promoter sequence
   Search Chromatin IP Primers for BUB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BUB3


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

Entrez Gene cytogenetic band: 10q26   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q24

BUB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BUB3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P124903:  view genomic region     (about GC identifiers)

Start:
124,913,760 bp from pter      End:
124,924,886 bp from pter
Size:
11,127 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BUB3_HUMAN, O43684 (See protein sequence)
Recommended Name: Mitotic checkpoint protein BUB3  
Size: 328 amino acids; 37155 Da
Subunit: Interacts with BUB1 and BUBR1. The BUB1/BUB3 complex interacts with MAD1L1
Secondary accessions: A6NJ42 B2R6E7 D3DRE9 O43685
Alternative splicing: 2 isoforms:  O43684-1   O43684-2   

Explore the universe of human proteins at neXtProt for BUB3: NX_O43684

Explore proteomics data for BUB3 at MOPED

Post-translational modifications: 

  • Poly-ADP-ribosylated by PARP1 (By similarity)1
  • Ubiquitination2 at Lys52, Lys139, Lys191, Lys216, Lys322
  • Modification sites at PhosphoSitePlus

  • See BUB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001007794.1  NP_004716.1  

    ENSEMBL proteins: 
     ENSP00000357858   ENSP00000357852   ENSP00000357851   ENSP00000383941   ENSP00000444354  
    Reactome Protein details: O43684

    BUB3 Human Recombinant Protein 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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    HGNC Gene Families:
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry O43684

    ProtoNet protein and cluster: O43684

    1 Blocks protein domain: IPB001680 G-protein beta WD-40 repeat signature

    UniProtKB/Swiss-Prot: BUB3_HUMAN, O43684
    Similarity: Belongs to the WD repeat BUB3 family
    Similarity: Contains 5 WD repeats


    Find genes that share domains with BUB3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BUB3_HUMAN, O43684
    Function: Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of
    correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments.
    Necessary for kinetochore localization of BUB1. Regulates chromosome segregation during oocyte meiosis. The
    BUB1/BUB3 complex plays a role in the inhibition of anaphase-promoting complex or cyclosome (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

         Genatlas biochemistry entry for BUB3:
    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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10198256
         
    Find genes that share ontologies with BUB3           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for BUB3:
     Decreased number of cells in m  Increased gamma-H2AX phosphory  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bub3):
     adipose tissue  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     integument  mortality/aging  muscle  skeleton  tumorigenesis 
     vision/eye 

    Find genes that share phenotypes with BUB3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bub3tm1Jvd for BUB3

       genOway: Develop your customized and physiologically relevant rodent model for BUB3

    miRNA
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    hsa-mir-615-3p (MIRT039843), hsa-mir-744-3p (MIRT037378), hsa-let-7d-5p (MIRT032111)

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    Selected qRT-PCR Assays for microRNAs that regulate BUB3 (see all 24):
    hsa-miR-345 hsa-miR-938 hsa-miR-944 hsa-miR-450b-3p hsa-miR-371-5p hsa-miR-4275 hsa-miR-3916 hsa-miR-3125
    SwitchGear 3'UTR luciferase reporter plasmidBUB3 3' UTR sequence
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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
    BUB3_HUMAN, O43684: Nucleus. Chromosome, centromere, kinetochore (By similarity). Note=Starts to localize at
    kinetochores in prometaphase I (Pro-MI) stage and maintains the localization until the metaphase I-anaphase I
    (MI-AI) transition (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776kinetochore IDA9660858
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with BUB3           About GenesLikeMe


    (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 BUB3 About   (see all 9)  
    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


    Find genes that share SuperPaths with BUB3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for BUB3
        Cell Cycle / Checkpoint Control

    1 GeneGo (Thomson Reuters) Pathway for BUB3
        Cell cycle Role of APC in cell cycle regulation

    1 BioSystems Pathway for BUB3
        Cell cycle


    5 Reactome Pathways for BUB3
        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 BUB3):
        Cell cycle
    HTLV-I infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BUB3
    Interactions:

        GeneGlobe Interaction Network for BUB3

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

    Selected Interacting proteins for BUB3 (O436841, 2, 3 ENSP000003578584) via UniProtKB, MINT, STRING, and/or I2D (see all 1058)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BUB1O436832, 3, ENSP000003025304MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000302530
    HDAC1Q135472, 3, ENSP000003626494MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000362649
    ANAPC1Q9H1A42, 3, ENSP000003391094MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000339109
    CDC16Q130422, 3, ENSP000003485544MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000348554
    CDC23Q9UJX22, 3, ENSP000003783504MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000378350
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000070mitotic sister chromatid segregation IEA--
    GO:0000278mitotic cell cycle TAS--
    GO:0007059chromosome segregation ----
    GO:0007094mitotic spindle assembly checkpoint TAS--
    GO:0007126meiotic nuclear division IEA--

    Find genes that share ontologies with BUB3           About GenesLikeMe



    (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 BUB3



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BUB3 gene (2 alternative transcripts): 
    NM_001007793.2  NM_004725.3  

    Unigene Cluster for BUB3:

    BUB3 mitotic checkpoint protein
    Hs.418533  [show with all ESTs]
    Unigene Representative Sequence: AK226060
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368865(uc009yah.2 uc001lhf.4 uc001lhd.2 uc001lhe.2 uc010qud.1)
    ENST00000368859 ENST00000368858 ENST00000407911 ENST00000481952 ENST00000538238

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    hsa-miR-345 hsa-miR-938 hsa-miR-944 hsa-miR-450b-3p hsa-miR-371-5p hsa-miR-4275 hsa-miR-3916 hsa-miR-3125
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    Additional mRNA sequence: 

    AF047472.1 AF047473.1 AF053304.1 AF081496.1 AK226060.1 AK293255.1 AK307958.1 AK312546.1 
    BC005138.2 BC022438.1 

    21 DOTS entries:

    DT.456137  DT.101965243  DT.100826408  DT.433658  DT.92454912  DT.95299996  DT.100826404  DT.121220643 
    DT.100826405  DT.121220629  DT.95369488  DT.92454916  DT.95369487  DT.121220594  DT.100826411  DT.121065891 
    DT.121220583  DT.121220589  DT.121220604  DT.87016702  DT.121220641 

    Selected AceView cDNA sequences (see all 536):

    NM_004725 AA629106 AA251758 BG776751 BU506853 CA441704 BU147541 AW967535 
    BG259872 BQ440829 CB134834 BQ773418 BE219336 AA338088 AA236129 BQ439181 
    BQ054017 BM904529 CA503070 BV180186 AI127577 CB129513 BG504215 AA282569 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BUB3 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
    SP1:                                -                       -                                                               
    SP2:                                -                       -                                               -     -         
    SP3:                                -                       -                                                               
    SP4:                                -                                                                                       
    SP5:                                                        -                                                               


    ECgene alternative splicing isoforms for BUB3

    (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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    BUB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTATTCCTT
    BUB3 Expression
    About this image


    BUB3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    BUB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BUB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.418533
        Custom PCR Arrays for BUB3
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    In Situ
    Assay Products:
     

     
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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 BUB3 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bub31 , 5 budding uninhibited by benzimidazoles 3 homolog (S. more1, 5 90.36(n)1
    100(a)1
      7 (74.36 cM)5
    122371  NM_009774.31  NP_033904.21 
     1315603915 
    chicken
    (Gallus gallus)
    Aves BUB31 budding uninhibited by benzimidazoles 3 homolog (yeast) 84(n)
    96.92(a)
      423949  NM_001006506.1  NP_001006506.1 
    lizard
    (Anolis carolinensis)
    Reptilia BUB36
    BUB3 mitotic checkpoint protein
    98(a)
    1 ↔ 1
    3(60225524-60252878)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.76442 Xenopus laevis mRNA for mitotic checkpoint, complete more 79.15(n)    AB018419.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.44312 Danio rerio BUB3 budding uninhibited by benzimidazoles more 73.49(n)    AY391411.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bub31 , 3 mitotic checkpoint3
    Bub31
    56(a)3
    59.87(n)1
    61.13(a)1
      99B73
    434901  NM_058033.31  NP_477381.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y54G9A.63 WD domain, G-beta repeat (2 domains) 43(a)   II(13725974-13729356)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BUB3(YOR026W)4 Kinetochore checkpoint WD40 repeat protein that localizes more   --   15(379781-380806) 854191  NP_014669.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BUB3.21 BUB3.2 55.8(n)
    56.33(a)
      841414  NM_103878.1  NP_175413.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g04486001 Os03g0448600 57.38(n)
    56.33(a)
      4333230  NM_001057006.1  NP_001050471.1 


    ENSEMBL Gene Tree for BUB3 (if available)
    TreeFam Gene Tree for BUB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BUB3 gene
    RAE12  
    2 SIMAP similar genes for BUB3 using alignment to 4 protein entries:     BUB3_HUMAN (see all proteins):
    RAE1    WDR38

    Find genes that share paralogs with BUB3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for BUB3
    PGOHUM00000232959


    (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 BUB3 (see all 273)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910828021,2
    --124911797(+) ATAGAC/TTACAG 2 -- us2k10--------
    rs1825644111,2
    --124911979(+) TTCTTC/TTTACT 2 -- us2k10--------
    rs24211761,2
    H--124912035(+) TCTTAG/CGAATT 2 -- us2k14Minor allele frequency- C:0.00NS EA 404
    rs30410651,2
    C--124912066(+) GTTTT-/ACACACA 2 -- us2k10--------
    rs61441371,2
    C--124912066(+) GTTTT-/ACAC  
            
    acaca
    2 -- us2k10--------
    rs569291361,2
    C--124912107(+) CACAC-/AC/CA 
     
    /CACACA
    AACTT
    4 -- us2k1 cds11NA 2
    rs18984581,2
    C,F,A,H--124912115(+) CTTTGC/TATTTG 2 -- us2k1 tfbs320Minor allele frequency- T:0.06NS EA NA CSA 2356
    rs1482442321,2
    --124912313(+) CACTGA/GATAAT 2 -- us2k10--------
    rs1402451831,2
    --124912347(+) TGGGTA/GATTCA 2 -- us2k10--------
    rs1503180571,2
    --124912441(+) CTAAAG/TTTAGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for BUB3 (124913760 - 124924886 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for BUB3: --
    Human Gene Mutation Database (HGMD): BUB3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BUB3
    DNA2.0 Custom Variant and Variant Library Synthesis for BUB3

    (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: 603719    OMIM disorders: --

    1 disease for BUB3:    
    About MalaCards
    mosaic variegated aneuploidy syndrome 1


    Find genes that share disorders with BUB3           About GenesLikeMe

    2 Novoseek inferred disease relationships for BUB3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 18.5 2 17991869 (1), 15796961 (1)
    gastric cancer 6.87 2 12692836 (2)

    Genetic Association Database (GAD): BUB3
    Human Genome Epidemiology (HuGE) Navigator: BUB3 (2 documents)

    Export disorders for BUB3 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 BUB3 gene, integrated from 10 sources (see all 108):
    (articles sorted by number of sources associating them with BUB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human homologue of Bub3 is required for kinetochore localization of Bub1 and a Mad3/Bub1-related protein kinase. (PubMed id 9660858)1, 2, 3, 9 Taylor S.S.... McKeon F. (J. Cell Biol. 1998)
    2. 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)
    3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    4. The human spindle assembly checkpoint protein Bub3 is required for the establishment of efficient kinetochore-microtubule attachments. (PubMed id 18199686)1, 2 Logarinho E.... Bousbaa H. (Mol. Biol. Cell 2008)
    5. Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk. (PubMed id 17268814)1, 4 Vaclavicek A....FAPrsti A. (Breast Cancer Res. Treat. 2007)
    6. Phosphorylation of Cdc20 by Bub1 provides a catalytic mechanism for APC/C inhibition by the spindle checkpoint. (PubMed id 15525512)1, 2 Tang Z.... Yu H. (Mol. Cell 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Allelic loss at 10q26 in osteosarcoma in the region of the BUB3 and FGFR2 genes. (PubMed id 15796961)1, 9 Mendoza S....Miller C.W. (Cancer Genet. Cytogenet. 2005)
    9. The DYNLT3 light chain directly links cytoplasmic dynein to a spindle checkpoint protein, Bub3. (PubMed id 17289665)1, 9 Lo K.W.... Pfister K.K. (J. Biol. Chem. 2007)
    10. TAp73alpha binds the kinetochore proteins Bub1 and Bub3 resulting in polyploidy. (PubMed id 19182530)1, 9 Vernole P....De Laurenzi V. (Cell Cycle 2009)

    (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: 9184 HGNC: 1151 AceView: BUB3 Ensembl:ENSG00000154473 euGenes: HUgn9184
    ECgene: BUB3 Kegg: 9184 H-InvDB: BUB3

    (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 BUB3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BUB3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for BUB3 gene:
    Search GeneIP for patents involving BUB3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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