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Aliases for BUB1 Gene

Aliases for BUB1 Gene

  • BUB1 Mitotic Checkpoint Serine/Threonine Kinase 2 3
  • Bub1A 3 4
  • BUB1L 3 4
  • HBUB1 3 4
  • Budding Uninhibited By Benzimidazoles 1 (Yeast Homolog) 2
  • Budding Uninhibited By Benzimidazoles 1 Homolog (Yeast) 2
  • Mitotic Checkpoint Serine/Threonine-Protein Kinase BUB1 3
  • BUB1 Budding Uninhibited By Benzimidazoles 1 Homolog 3
  • Budding Uninhibited By Benzimidazoles 1 Homolog 3
  • Putative Serine/Threonine-Protein Kinase 3
  • Mitotic Spindle Checkpoint Kinase 3
  • EC 2.7.11.1 4

External Ids for BUB1 Gene

Previous HGNC Symbols for BUB1 Gene

  • BUB1L

Previous GeneCards Identifiers for BUB1 Gene

  • GC02M108625
  • GC02M109316
  • GC02M111302
  • GC02M111490
  • GC02M111111
  • GC02M111395
  • GC02M104274

Summaries for BUB1 Gene

Entrez Gene Summary for BUB1 Gene

  • 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]

GeneCards Summary for BUB1 Gene

BUB1 (BUB1 Mitotic Checkpoint Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with BUB1 include mosaic variegated aneuploidy syndrome and colorectal cancer. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein serine/threonine kinase activity and protein kinase activity. An important paralog of this gene is BUB1B.

UniProtKB/Swiss-Prot for BUB1 Gene

  • Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Plays an important role in defining SGOL1 localization and thereby affects sister chromatid cohesion. Acts as a substrate for anaphase-promoting complex or cyclosome (APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of 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. Kinase activity is essential for inhibition of APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous tumorigenesis.

Gene Wiki entry for BUB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BUB1 Gene

Genomics for BUB1 Gene

Regulatory Elements for BUB1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BUB1 Gene

Start:
110,637,698 bp from pter
End:
110,678,114 bp from pter
Size:
40,417 bases
Orientation:
Minus strand

Genomic View for BUB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BUB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BUB1 Gene

Proteins for BUB1 Gene

  • Protein details for BUB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43683-BUB1_HUMAN
    Recommended name:
    Mitotic checkpoint serine/threonine-protein kinase BUB1
    Protein Accession:
    O43683
    Secondary Accessions:
    • E9PC26
    • F5GXI5
    • O43430
    • O43643
    • O60626
    • Q53QE4

    Protein attributes for BUB1 Gene

    Size:
    1085 amino acids
    Molecular mass:
    122375 Da
    Quaternary structure:
    • Interacts with BUB3 and CASC5. Interacts (when phosphorylated) with PLK1. The BUB1-BUB3 complex interacts with MAD1L1. Interacts with SV40 Large T antigen; this interaction induces activation of a DNA damage response and promotes p53/TP53 stabilization and phosphorylation (Probable).

    Three dimensional structures from OCA and Proteopedia for BUB1 Gene

    Alternative splice isoforms for BUB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BUB1 Gene

Proteomics data for BUB1 Gene at MOPED

Post-translational modifications for BUB1 Gene

  • Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1.
  • Upon spindle-assembly checkpoint activation it is hyperphosphorylated and its kinase activity toward CDC20 is stimulated. Phosphorylation at Thr-609 is required for interaction with PLK1, phosphorylation at this site probably creates a binding site for the POLO-box domain of PLK1, thus enhancing the PLK1-BUB1 interaction.
  • Ubiquitination at Lys175 and Lys299
  • Modification sites at PhosphoSitePlus

Other Protein References for BUB1 Gene

Antibody Products

No data available for DME Specific Peptides for BUB1 Gene

Domains for BUB1 Gene

Suggested Antigen Peptide Sequences for BUB1 Gene

Graphical View of Domain Structure for InterPro Entry

O43683

UniProtKB/Swiss-Prot:

BUB1_HUMAN :
  • O43683
Domain:
  • The KEN box is required for its ubiquitination and degradation.
  • BUB1 N-terminal domain directs kinetochore localization and binding to BUB3.
  • Contains 1 BUB1 N-terminal domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. BUB1 subfamily.
genes like me logo Genes that share domains with BUB1: view

Function for BUB1 Gene

Molecular function for BUB1 Gene

GENATLAS Biochemistry:
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,rarely mutated in colorectal and other cancers
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation:
Autophosphorylated when the cells enters mitosis
UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Plays an important role in defining SGOL1 localization and thereby affects sister chromatid cohesion. Acts as a substrate for anaphase-promoting complex or cyclosome (APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of 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. Kinase activity is essential for inhibition of APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous tumorigenesis.
UniProtKB/Swiss-Prot Induction:
Inhibited by phorbol 12-myristate 13-acetate (PMA)

Enzyme Numbers (IUBMB) for BUB1 Gene

Gene Ontology (GO) - Molecular Function for BUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS 10198256
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IPI 10198256
GO:0005524 ATP binding IEA --
GO:0016772 transferase activity, transferring phosphorus-containing groups --
genes like me logo Genes that share ontologies with BUB1: view
genes like me logo Genes that share phenotypes with BUB1: view

Animal Models for BUB1 Gene

MGI Knock Outs for BUB1:

Animal Model Products

miRNA for BUB1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BUB1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for BUB1 Gene

Localization for BUB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BUB1 Gene

Nucleus. Chromosome, centromere, kinetochore. Note=Nuclear in interphase cells. Accumulates gradually during G1 and S phase of the cell cycle, peaks at G2/M, and drops dramatically after mitosis. Localizes to the outer kinetochore. Kinetochore localization is required for normal mitotic timing and checkpoint response to spindle damage and occurs very early in prophase. AURKB, CASC5 and INCENP are required for kinetochore localization (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BUB1 Gene COMPARTMENTS Subcellular localization image for BUB1 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for BUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region --
GO:0000776 kinetochore IDA 15020684
GO:0000777 condensed chromosome kinetochore IDA 19465021
GO:0000780 condensed nuclear chromosome, centromeric region --
GO:0000942 condensed nuclear chromosome outer kinetochore IDA 24055156
genes like me logo Genes that share ontologies with BUB1: view

Pathways for BUB1 Gene

genes like me logo Genes that share pathways with BUB1: view

Pathways by source for BUB1 Gene

Gene Ontology (GO) - Biological Process for BUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0006468 protein phosphorylation IEA --
GO:0006915 apoptotic process IEA --
GO:0007059 chromosome segregation IEA --
GO:0007063 regulation of sister chromatid cohesion IDA 15723797
genes like me logo Genes that share ontologies with BUB1: view

Compounds for BUB1 Gene

(2) HMDB Compounds for BUB1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(3) Novoseek inferred chemical compound relationships for BUB1 Gene

Compound -log(P) Hits PubMed IDs
nocodazole 65.5 4
paclitaxel 32.4 4
cytosine 14.1 1
genes like me logo Genes that share compounds with BUB1: view

Transcripts for BUB1 Gene

Unigene Clusters for BUB1 Gene

BUB1 mitotic checkpoint serine/threonine kinase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BUB1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BUB1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5: - - - -
SP6: -
SP7: - - -
SP8:
SP9:
SP10:

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for BUB1 Gene

GeneLoc Exon Structure for
BUB1
ECgene alternative splicing isoforms for
BUB1

Expression for BUB1 Gene

mRNA expression in normal human tissues for BUB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BUB1 Gene

This gene is overexpressed in Testis (10.4).

Protein differential expression in normal tissues for BUB1 Gene

This gene is overexpressed in Testis (55.1) and Ovary (13.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BUB1 Gene

SOURCE GeneReport for Unigene cluster for BUB1 Gene Hs.469649

mRNA Expression by UniProt/SwissProt for BUB1 Gene

O43683-BUB1_HUMAN
Tissue specificity: High expression in testis and thymus, less in colon, spleen, lung and small intestine. Expressed in fetal thymus, bone marrow, heart, liver, spleen and thymus. Expression is associated with cells/tissues with a high mitotic index
genes like me logo Genes that share expressions with BUB1: view

Expression partners for BUB1 Gene

In Situ Assay Products

Orthologs for BUB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BUB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BUB1 35
  • 84.31 (n)
  • 79.48 (a)
BUB1 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BUB1 35
  • 88.03 (n)
  • 83.56 (a)
BUB1 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bub1 35
  • 82.23 (n)
  • 74.01 (a)
Bub1 16
Bub1 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BUB1 35
  • 99.57 (n)
  • 99.17 (a)
BUB1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bub1 35
  • 81.99 (n)
  • 73.98 (a)
oppossum
(Monodelphis domestica)
Mammalia BUB1 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BUB1 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves BUB1 35
  • 57.44 (n)
  • 46.55 (a)
BUB1 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BUB1 36
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bub1 35
  • 58.08 (n)
  • 49.43 (a)
Str.351 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398234 35
zebrafish
(Danio rerio)
Actinopterygii bub1 35
  • 51.43 (n)
  • 45.4 (a)
bub1 36
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bub1 37
  • 32 (a)
CG14030 37
  • 35 (a)
Bub1 36
  • 19 (a)
ManyToMany
BubR1 36
  • 13 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea bub-1 37
  • 25 (a)
bub-1 36
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUB1 36
  • 20 (a)
ManyToMany
MAD3 36
  • 16 (a)
ManyToMany
BUB1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 16 (a)
ManyToMany
CSA.5042 36
  • 35 (a)
ManyToMany
Species with no ortholog for BUB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BUB1 Gene

ENSEMBL:
Gene Tree for BUB1 (if available)
TreeFam:
Gene Tree for BUB1 (if available)

Paralogs for BUB1 Gene

Paralogs for BUB1 Gene

Pseudogenes.org Pseudogenes for BUB1 Gene

genes like me logo Genes that share paralogs with BUB1: view

Variants for BUB1 Gene

Sequence variations from dbSNP and Humsavar for BUB1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1801328 Colorectal cancer 110,674,203(-) GAAGA(G/T)AATTT reference, missense
rs1801395 -- 110,650,637(-) ACTGA(C/T)GCTGC reference, synonymous-codon
rs1801423 -- 110,666,278(-) GCTTC(C/G)CAGGA reference, synonymous-codon
rs1801517 -- 110,653,456(-) GTGCC(C/G)TCAAG synonymous-codon, reference
rs1801566 -- 110,672,738(-) GAGCT(A/G)CAGCA synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for BUB1 Gene

Variant ID Type Subtype PubMed ID
nsv874837 CNV Loss 21882294
nsv874838 CNV Loss 21882294
nsv521956 CNV Loss 19592680
nsv874839 CNV Gain 21882294

Relevant External Links for BUB1 Gene

HapMap Linkage Disequilibrium report
BUB1
Human Gene Mutation Database (HGMD)
BUB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BUB1 Gene

Disorders for BUB1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for BUB1 Gene in MalaCards »

(2) Diseases for BUB1 Gene including...

(21) Novoseek inferred disease relationships for BUB1 Gene

Disease -log(P) Hits PubMed IDs
microsatellite instability 39.3 3
colorectal tumors 38.6 2
cancer 38.5 19
gastric carcinoma 30.6 9
colorectal cancer 30.2 9

Relevant External Links for BUB1

Genetic Association Database (GAD)
BUB1
Human Genome Epidemiology (HuGE) Navigator
BUB1
genes like me logo Genes that share disorders with BUB1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES and Genatlas for BUB1 Gene

Publications for BUB1 Gene

  1. Phosphorylation of human MAD1 by the BUB1 kinase in vitro. (PMID: 10198256) Seeley T.W. … Zhen J.Y. (Biochem. Biophys. Res. Commun. 1999) 3 4 23
  2. Mammalian BUB1 protein kinases: map positions and in vivo expression. (PMID: 9441741) Pangilinan F. … Spencer F. (Genomics 1997) 3 4 23
  3. Mutations of mitotic checkpoint genes in human cancers. (PMID: 9521327) Cahill D.P. … Vogelstein B. (Nature 1998) 3 4 23
  4. The human homologue of Bub3 is required for kinetochore localization of Bub1 and a Mad3/Bub1-related protein kinase. (PMID: 9660858) Taylor S.S. … McKeon F. (J. Cell Biol. 1998) 3 4 23
  5. Human Bub1: a putative spindle checkpoint kinase closely linked to cell proliferation. (PMID: 9790499) Ouyang B. … Dai W. (Cell Growth Differ. 1998) 3 4 23

Products for BUB1 Gene

  • Addgene plasmids for BUB1

Sources for BUB1 Gene

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