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

    Gene ID: 9184, updated on 5-May-2024

    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; AllianceGenome:HGNC:1151
    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
    NEW
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    Genomic context

    See BUB3 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (123154402..123170467)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (124029424..124045489)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124913918..124929983)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:124894701-124895651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124896834-124897798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124898839-124899608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124901370-124902306 Neighboring gene H6 family homeobox 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124902307-124903243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2903 Neighboring gene Sharpr-MPRA regulatory region 2134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4149 Neighboring gene Sharpr-MPRA regulatory region 11829 Neighboring gene H6 family homeobox 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4151 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI 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.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in attachment of spindle microtubules to kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic spindle assembly checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic spindle assembly checkpoint signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein localization to kinetochore IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of bub1-bub3 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mitotic checkpoint complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of mitotic checkpoint complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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_033794.2 RefSeqGene

      Range
      5002..21067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001007793.3NP_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, BP328027
      Consensus CDS
      CCDS31306.1
      UniProtKB/TrEMBL
      A0A140VJF3, J3QT28
      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
      A6NJ42, B2R6E7, D3DRE9, O43684, O43685
      UniProtKB/TrEMBL
      J3QT28
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      123154402..123170467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      124029424..124045489
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)