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    BUB3 BUB3 mitotic checkpoint protein [ Homo sapiens (human) ]

    Gene ID: 9184, updated on 17-Jun-2019

    Summary

    Official Symbol
    BUB3provided by HGNC
    Official Full Name
    BUB3 mitotic checkpoint proteinprovided by HGNC
    Primary source
    HGNC:HGNC:1151
    See related
    Ensembl:ENSG00000154473 MIM:603719
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BUB3L; hBUB3
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 41.0), appendix (RPKM 28.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See BUB3 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (123154244..123170467)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124913760..124924886)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H6 family homeobox 3 Neighboring gene H6 family homeobox 2 Neighboring gene Sharpr-MPRA regulatory region 11829 Neighboring gene ribosomal protein S26 pseudogene 39 Neighboring gene uncharacterized LOC107984275

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • APC-Cdc20 mediated degradation of Nek2A, organism-specific biosystem (from REACTOME)
      APC-Cdc20 mediated degradation of Nek2A, organism-specific biosystemLike Cyclin A, NIMA-related kinase 2A (Nek2A) is degraded during pro-metaphase in a checkpoint-independent manner.
    • APC/C-mediated degradation of cell cycle proteins, organism-specific biosystem (from REACTOME)
      APC/C-mediated degradation of cell cycle proteins, organism-specific biosystemThe Anaphase Promoting Complex or Cyclosome (APC/C) functions during mitosis to promote sister chromatid separation and mitotic exit through the degradation of mitotic cyclins and securin. This compl...
    • APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
      APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemFollowing phosphorylation of the APC/C core subunits by mitotic kinases, the activating protein, Cdc20 is recruited to the APC and promotes the multiubiquitination and subsequent degradation of the ...
    • APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint, organism-specific biosystem (from REACTOME)
      APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint, organism-specific biosystemAPC:CDC20 mediates the degradation of a number of cell cycle proteins including Cyclin A and Nek2A.
    • Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
      Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemAPC/C:Cdc20 is first activated at the prometaphase/metaphase transition through phosphorylation of core subunits of the APC/C by mitotic kinases as well as recruitment of the APC/C activator protein ...
    • Cdc20:Phospho-APC/C mediated degradation of Cyclin A, organism-specific biosystem (from REACTOME)
      Cdc20:Phospho-APC/C mediated degradation of Cyclin A, organism-specific biosystemCyclin A, functions in mitosis as well as DNA replication and is degraded in the interim by the APC/C to permit normal chromosome segregation, cell division, and the onset of S phase (see Lukas an...
    • Cell Cycle, organism-specific biosystem (from WikiPathways)
      Cell Cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Inactivation of APC/C via direct inhibition of the APC/C complex, organism-specific biosystem (from REACTOME)
      Inactivation of APC/C via direct inhibition of the APC/C complex, organism-specific biosystemIn the direct inhibition model, the cytosolic Mitotic Checkpoint Complex, consisting of hBUBR1, hBUB3, Cdc20 and Mad2, directly inhibits APC/C by binding to it.
    • Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components, organism-specific biosystem (from REACTOME)
      Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components, organism-specific biosystemThe target of the mitotic checkpoint is the Anaphase Promoting Complex/Cyclosome (APC/C) an E3 ubiquitin ligase that targets proteins whose destruction is essential for mitotic exit. Currently, there...
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
    • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
    • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
      Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
    • Mitotic Spindle Checkpoint, organism-specific biosystem (from REACTOME)
      Mitotic Spindle Checkpoint, organism-specific biosystemThe mitotic checkpoint or spindle assembly checkpoint is an evolutionarily conserved mechanism that ensures that cells with misaligned chromosomes do not exit mitosis and divide to form aneuploid cel...
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
    • Regulation of APC/C activators between G1/S and early anaphase, organism-specific biosystem (from REACTOME)
      Regulation of APC/C activators between G1/S and early anaphase, organism-specific biosystemThe APC/C is activated by either Cdc20 or Cdh1. While both activators associate with the APC/C, they do so at different points in the cell cycle and their binding is regulated differently (see Zacha...
    • Regulation of mitotic cell cycle, organism-specific biosystem (from REACTOME)
      Regulation of mitotic cell cycle, organism-specific biosystem
      Regulation of mitotic cell cycle
    • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
      Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
    • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
      Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    anaphase-promoting complex-dependent catabolic process TAS
    Traceable Author Statement
    more info
     
    attachment of spindle microtubules to kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic sister chromatid segregation IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic spindle assembly checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein localization to kinetochore IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    regulation of mitotic cell cycle phase transition TAS
    Traceable Author Statement
    more info
     
    ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    bub1-bub3 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    condensed chromosome kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic checkpoint complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    mitotic checkpoint protein BUB3
    Names
    BUB3 budding uninhibited by benzimidazoles 3 homolog
    budding uninhibited by benomyl
    budding uninhibited by benzimidazoles 3 homolog
    mitotic checkpoint component
    testicular tissue protein Li 27

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033794.1 RefSeqGene

      Range
      5001..16127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001007793.2NP_001007794.1  mitotic checkpoint protein BUB3 isoform b

      See identical proteins and their annotated locations for NP_001007794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform b which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF047473, BM989334, BP328027
      Consensus CDS
      CCDS31306.1
      UniProtKB/Swiss-Prot
      O43684
      UniProtKB/TrEMBL
      A0A140VJF3
      Related
      ENSP00000357851.5, ENST00000368858.9
      Conserved Domains (2) summary
      sd00039
      Location:1754
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:14296
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_004725.4NP_004716.1  mitotic checkpoint protein BUB3 isoform a

      See identical proteins and their annotated locations for NP_004716.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC012391, AF047472, BM989334, BP328027
      Consensus CDS
      CCDS7635.1
      UniProtKB/Swiss-Prot
      O43684
      Related
      ENSP00000357858.4, ENST00000368865.9
      Conserved Domains (2) summary
      sd00039
      Location:1754
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:14296
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      123154244..123170467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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