U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    BUB1 BUB1 mitotic checkpoint serine/threonine kinase [ Homo sapiens (human) ]

    Gene ID: 699, updated on 3-Dec-2024

    Summary

    Official Symbol
    BUB1provided by HGNC
    Official Full Name
    BUB1 mitotic checkpoint serine/threonine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:1148
    See related
    Ensembl:ENSG00000169679 MIM:602452; AllianceGenome:HGNC:1148
    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
    BUB1A; BUB1L; hBUB1; MCPH30
    Summary
    This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in testis (RPKM 25.2), lymph node (RPKM 11.3) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BUB1 in Genome Data Viewer
    Location:
    2q13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (110637528..110678063, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (111060427..111100976, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (111395105..111435640, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373553 Neighboring gene ribosomal protein L22 pseudogene 12 Neighboring gene small nucleolar RNA, C/D box 132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16371 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:111434896-111435816 Neighboring gene uncharacterized LOC105373554 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:111435817-111436737 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:111445059-111446030 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:111446031-111447002 Neighboring gene Sharpr-MPRA regulatory region 12654 Neighboring gene uncharacterized LOC124906064

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Activation of the spindle checkpoint proteins MAD2, BUB1, and BUBR1 is necessary for the activity of HIV-1 Tat to induce mitotic arrest and subsequent apoptosis PubMed

    Go to the HIV-1, Human Interaction Database

    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 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2A kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4S1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    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 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of outer kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mitotic checkpoint serine/threonine-protein kinase BUB1
    Names
    BUB1 budding uninhibited by benzimidazoles 1 homolog
    budding uninhibited by benzimidazoles 1 homolog
    mitotic spindle checkpoint kinase
    putative serine/threonine-protein kinase
    NP_001265545.1
    NP_001265546.1
    NP_004327.1
    XP_047301572.1
    XP_054199555.1

    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_012048.2 RefSeqGene

      Range
      5000..45535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278616.2NP_001265545.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AC226101, AK302418
      Consensus CDS
      CCDS62984.1
      UniProtKB/TrEMBL
      B4DYG2
      Related
      ENSP00000441013.1, ENST00000535254.6
      Conserved Domains (2) summary
      smart00777
      Location:8105
      Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
      cd14028
      Location:7661053
      STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1
    2. NM_001278617.2NP_001265546.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 3 which is shorter than isoform 1.
      Source sequence(s)
      AC226101, AK225317
      Consensus CDS
      CCDS62985.1
      UniProtKB/TrEMBL
      A8K5A6
      Related
      ENSP00000386701.1, ENST00000409311.5
      Conserved Domains (2) summary
      smart00777
      Location:5125
      Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
      cl21453
      Location:7861016
      PKc_like; Protein Kinases, catalytic domain
    3. NM_004336.5NP_004327.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 1

      See identical proteins and their annotated locations for NP_004327.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC226101, AF047471
      Consensus CDS
      CCDS33273.1
      UniProtKB/Swiss-Prot
      E9PC26, F5GXI5, O43430, O43643, O43683, O60626, Q53QE4
      UniProtKB/TrEMBL
      A8K5A6
      Related
      ENSP00000302530.6, ENST00000302759.11
      Conserved Domains (2) summary
      smart00777
      Location:5125
      Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
      cd14028
      Location:7861073
      STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      110637528..110678063 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445616.1XP_047301572.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

      UniProtKB/TrEMBL
      A0JLU2
      Related
      ENST00000466333.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      111060427..111100976 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343580.1XP_054199555.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

      UniProtKB/TrEMBL
      A0JLU2