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

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

Summary

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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
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Genomic context

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See BUB1 in Genome Data Viewer
Location:
2q13
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (110637528..110678063, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (111060427..111100976, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. BUB1 predicts poor prognosis and immune status in liver hepatocellular carcinoma. Qi W, et al. APMIS, 2022 Jul. PMID 35255180
  2. Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. Carvalhal S, et al. Sci Adv, 2022 Jan 21. PMID 35044816, Free PMC Article
  3. Prognostic Value of BUB1 for Predicting Non-Muscle-Invasive Bladder Cancer Progression. Piao XM, et al. Int J Mol Sci, 2021 Nov 25. PMID 34884561, Free PMC Article
  4. Inhibition of BUB1 suppresses tumorigenesis of osteosarcoma via blocking of PI3K/Akt and ERK pathways. Huang Z, et al. J Cell Mol Med, 2021 Sep. PMID 34337852, Free PMC Article
  5. Inhibition of BUB1 Kinase by BAY 1816032 Sensitizes Tumor Cells toward Taxanes, ATR, and PARP Inhibitors In Vitro and In Vivo. Siemeister G, et al. Clin Cancer Res, 2019 Feb 15. PMID 30429199

See all (168) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression of the checkpoint kinase BUB1 is a predictor of response to cancer therapies.
    Title: Expression of the checkpoint kinase BUB1 is a predictor of response to cancer therapies.
  2. The mitotic checkpoint kinase BUB1 is a direct and actionable target of MYB in adenoid cystic carcinoma.
    Title: The mitotic checkpoint kinase BUB1 is a direct and actionable target of MYB in adenoid cystic carcinoma.
  3. Knockdown of BUB1 inhibits tumor necrosis factor-alpha-induced proliferation and migration of rheumatoid arthritis synovial fibroblasts by regulating PI3K/Akt pathway.
    Title: Knockdown of BUB1 inhibits tumor necrosis factor-α-induced proliferation and migration of rheumatoid arthritis synovial fibroblasts by regulating PI3K/Akt pathway.
  4. BubR1 recruitment to the kinetochore via Bub1 enhances spindle assembly checkpoint signaling.
    Title: BubR1 recruitment to the kinetochore via Bub1 enhances spindle assembly checkpoint signaling.
  5. BUB1 predicts poor prognosis and immune status in liver hepatocellular carcinoma.
    Title: BUB1 predicts poor prognosis and immune status in liver hepatocellular carcinoma.
  6. BUBs Are New Biomarkers of Promoting Tumorigenesis and Affecting Prognosis in Breast Cancer.
    Title: BUBs Are New Biomarkers of Promoting Tumorigenesis and Affecting Prognosis in Breast Cancer.
  7. Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
    Title: Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
  8. Bub1 and CENP-U redundantly recruit Plk1 to stabilize kinetochore-microtubule attachments and ensure accurate chromosome segregation.
    Title: Bub1 and CENP-U redundantly recruit Plk1 to stabilize kinetochore-microtubule attachments and ensure accurate chromosome segregation.
  9. Inhibition of BUB1 suppresses tumorigenesis of osteosarcoma via blocking of PI3K/Akt and ERK pathways.
    Title: Inhibition of BUB1 suppresses tumorigenesis of osteosarcoma via blocking of PI3K/Akt and ERK pathways.
  10. Prognostic Value of BUB1 for Predicting Non-Muscle-Invasive Bladder Cancer Progression.
    Title: Prognostic Value of BUB1 for Predicting Non-Muscle-Invasive Bladder Cancer Progression.
Submit: New GeneRIF Correction See all GeneRIFs (99)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Colorectal cancer
MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs
Microcephaly 30, primary, autosomal recessive
MedGen: C5774280 OMIM: 620183 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H2A kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in chromosome segregation IEA
Inferred from Electronic Annotation
more info
  
involved_in meiotic sister chromatid cohesion, centromeric IBA
Inferred from Biological aspect of Ancestor
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of chromosome segregation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of sister chromatid cohesion IDA
Inferred from Direct Assay
more info
 PubMed 
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

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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)

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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_001278616.2 → NP_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:8 → 105
    Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
    cd14028
    Location:766 → 1053
    STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1

  2. NM_001278617.2 → NP_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:5 → 125
    Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
    cl21453
    Location:786 → 1016
    PKc_like; Protein Kinases, catalytic domain

  3. NM_004336.5 → NP_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:5 → 125
    Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
    cd14028
    Location:786 → 1073
    STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1

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_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    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_054343580.1 → XP_054199555.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43683.1 GenPept UniProtKB/Swiss-Prot:O43683

Gene LinkOut

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