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Aliases for BUB1 Gene

Aliases for BUB1 Gene

  • BUB1 Mitotic Checkpoint Serine/Threonine Kinase 2 3
  • BUB1, Mitotic Checkpoint Serine/Threonine Kinase 3 5
  • BUB1L 3 4
  • BUB1A 3 4
  • HBUB1 3 4
  • Budding Uninhibited By Benzimidazoles 1 (Yeast Homolog) 2
  • Budding Uninhibited By Benzimidazoles 1 Homolog (Yeast) 2
  • 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 Mitotic Metaphase and Anaphase and Signaling by Rho GTPases. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine 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

Enhancers for BUB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BUB1 on UCSC Golden Path with GeneCards custom track

Promoters for BUB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BUB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BUB1 Gene

Chromosome:
2
Start:
110,637,527 bp from pter
End:
110,678,114 bp from pter
Size:
40,588 bases
Orientation:
Minus strand

Genomic View for BUB1 Gene

Genes around BUB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BUB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 175 and Lys 299
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for BUB1 Gene

Domains & Families for BUB1 Gene

Gene Families for BUB1 Gene

Protein 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 :
  • The KEN box is required for its ubiquitination and degradation.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. BUB1 subfamily.
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

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

Human Phenotype Ontology for BUB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BUB1 Gene

MGI Knock Outs for BUB1:

Animal Model Products

  • Taconic Biosciences Mouse Models for BUB1

miRNA for BUB1 Gene

miRTarBase miRNAs that target BUB1

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
cytosol 5
nucleus 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for BUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BUB1: view

Pathways & Interactions for BUB1 Gene

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

Pathways by source for BUB1 Gene

1 GeneGo (Thomson Reuters) pathway for BUB1 Gene

SIGNOR curated interactions for BUB1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for BUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0006915 apoptotic process IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0007093 mitotic cell cycle checkpoint TAS 9521327
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with BUB1: view

Drugs & Compounds for BUB1 Gene

(3) Drugs for BUB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(2) Additional Compounds for BUB1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
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:

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 (x10.4).

Protein differential expression in normal tissues from HIPED for BUB1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with BUB1: view

Protein tissue co-expression partners for BUB1 Gene

- Elite partner

Primer 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
rs1801328 Colorectal cancer 110,674,203(-) GAAGA(G/T)AATTT nc-transcript-variant, reference, missense
VAR_008850 Colorectal cancer
VAR_008851 Colorectal cancer
VAR_015687 Pancreatic cancer
VAR_015688 Pancreatic cancer

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

Variation tolerance for BUB1 Gene

Residual Variation Intolerance Score: 8.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BUB1 Gene

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

(3) MalaCards diseases for BUB1 Gene - From: ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mosaic variegated aneuploidy syndrome
  • mva syndrome
colorectal cancer
  • colorectal cancer, somatic
giant cell glioblastoma
  • monstrocellular sarcoma [obs]
- elite association - COSMIC cancer census association via MalaCards
Search BUB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BUB1

Genetic Association Database (GAD)
BUB1
Human Genome Epidemiology (HuGE) Navigator
BUB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BUB1
genes like me logo Genes that share disorders with BUB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BUB1 Gene

Publications for BUB1 Gene

  1. KEN-box-dependent degradation of the Bub1 spindle checkpoint kinase by the anaphase-promoting complex/cyclosome. (PMID: 17158872) Qi W. … Yu H. (J. Biol. Chem. 2007) 3 4 23 67
  2. Simian virus 40 large T antigen disrupts genome integrity and activates a DNA damage response via Bub1 binding. (PMID: 18922873) Hein J. … Gjoerup O.V. (J. Virol. 2009) 3 23
  3. The crystal structure of the N-terminal region of BUB1 provides insight into the mechanism of BUB1 recruitment to kinetochores. (PMID: 19141287) Bolanos-Garcia V.M. … Blundell T.L. (Structure 2009) 3 23
  4. TAp73alpha binds the kinetochore proteins Bub1 and Bub3 resulting in polyploidy. (PMID: 19182530) Vernole P. … De Laurenzi V. (Cell Cycle 2009) 3 23
  5. Bub1 regulates chromosome segregation in a kinetochore-independent manner. (PMID: 19487456) Klebig C. … Meraldi P. (J. Cell Biol. 2009) 3 23

Products for BUB1 Gene

Sources for BUB1 Gene

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