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Aliases for BUB1B Gene

Aliases for BUB1B Gene

  • BUB1 Mitotic Checkpoint Serine/Threonine Kinase B 2 3
  • BUBR1 3 4 6
  • MAD3/BUB1-Related Protein Kinase 3 4
  • Mitotic Checkpoint Kinase MAD3L 3 4
  • HBUBR1 3 4
  • MAD3L 3 4
  • MVA1 3 6
  • SSK1 3 4
  • Budding Uninhibited By Benzimidazoles 1 (Yeast Homolog), Beta 2
  • Budding Uninhibited By Benzimidazoles 1 Homolog Beta (Yeast) 2
  • Mitotic Checkpoint Serine/Threonine-Protein Kinase BUB1 Beta 3
  • Budding Uninhibited By Benzimidazoles 1 Homolog Beta 3
  • Protein SSK1 4
  • EC 2.7.11.1 4
  • BUB1beta 3
  • Bub1A 3

External Ids for BUB1B Gene

Previous GeneCards Identifiers for BUB1B Gene

  • GC15P035820
  • GC15P033348
  • GC15P038032
  • GC15P038169
  • GC15P038240
  • GC15P040453
  • GC15P017296

Summaries for BUB1B Gene

Entrez Gene Summary for BUB1B Gene

  • This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]

GeneCards Summary for BUB1B Gene

BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B) is a Protein Coding gene. Diseases associated with BUB1B include mosaic variegated aneuploidy syndrome 1 and premature chromatid separation trait. 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 BUB1.

UniProtKB/Swiss-Prot for BUB1B Gene

  • Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression.

Gene Wiki entry for BUB1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BUB1B Gene

Genomics for BUB1B Gene

Regulatory Elements for BUB1B Gene

Epigenetics Products

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

Genomic Location for BUB1B Gene

Start:
40,161,009 bp from pter
End:
40,221,136 bp from pter
Size:
60,128 bases
Orientation:
Plus strand

Genomic View for BUB1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BUB1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BUB1B Gene

Proteins for BUB1B Gene

  • Protein details for BUB1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60566-BUB1B_HUMAN
    Recommended name:
    Mitotic checkpoint serine/threonine-protein kinase BUB1 beta
    Protein Accession:
    O60566
    Secondary Accessions:
    • B2R6U0
    • B4DL09
    • B4DLG3
    • O60501
    • O60627
    • O60758
    • O75389
    • Q59HH6
    • Q8WV50
    • Q96KM4

    Protein attributes for BUB1B Gene

    Size:
    1050 amino acids
    Molecular mass:
    119545 Da
    Quaternary structure:
    • Interacts with CENPE, CENPF, mitosin, PLK1 and BUB3. Part of a complex containing BUB3, CDC20 and BUB1B. Interacts with anaphase-promoting complex/cyclosome (APC/C). Interacts with CASC5.
    SequenceCaution:
    • Sequence=BAD92019.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BUB1B Gene

    Alternative splice isoforms for BUB1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BUB1B Gene

Proteomics data for BUB1B Gene at MOPED

Post-translational modifications for BUB1B Gene

  • Acetylation at Lys-250 regulates its degradation and timing in anaphase entry.
  • Autophosphorylated in vitro. Intramolecular autophosphorylation is stimulated by CENPE. Phosphorylated during mitosis and hyperphosphorylated in mitotically arrested cells. Phosphorylation at Ser-670 and Ser-1043 occurs at kinetochores upon mitotic entry with dephosphorylation at the onset of anaphase.
  • Proteolytically cleaved by caspase-3 in a cell cycle specific manner. The cleavage might be involved in the durability of the cell cycle delay. Caspase-3 cleavage is associated with abrogation of the mitotic checkpoint. The major site of cleavage is at Asp-610
  • Sumoylated with SUMO2 and SUMO3. The sumoylation mediates the association with CENPE at the kinetochore.
  • Ubiquitinated. Degraded by the proteasome.
  • Ubiquitination at Lys210, Lys250, and Lys995
  • Modification sites at PhosphoSitePlus

Other Protein References for BUB1B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BUB1B (BUB1B)

No data available for DME Specific Peptides for BUB1B Gene

Domains for BUB1B Gene

Protein Domains for BUB1B Gene

Suggested Antigen Peptide Sequences for BUB1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60566

UniProtKB/Swiss-Prot:

BUB1B_HUMAN :
  • O60566
Domain:
  • The D-box targets the protein for rapid degradation by ubiquitin-dependent proteolysis during the transition from mitosis to interphase.
  • The 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 BUB1B: view

Function for BUB1B Gene

Molecular function for BUB1B Gene

GENATLAS Biochemistry: budding inhibited by benzidimidazoles,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,mutated in colorectal and other cancers
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation: Kinase activity stimulated by CENPE.
UniProtKB/Swiss-Prot Function: Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression.
UniProtKB/Swiss-Prot Induction: Induced during mitosis.

Enzyme Numbers (IUBMB) for BUB1B Gene

Gene Ontology (GO) - Molecular Function for BUB1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity NAS 9763420
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IPI 11030144
GO:0005524 ATP binding IEA --
GO:0016772 transferase activity, transferring phosphorus-containing groups --
genes like me logo Genes that share ontologies with BUB1B: view
genes like me logo Genes that share phenotypes with BUB1B: view

Animal Models for BUB1B Gene

MGI Knock Outs for BUB1B:

Animal Model Products

CRISPR Products

miRNA for BUB1B Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BUB1B

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for BUB1B Gene

Localization for BUB1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for BUB1B Gene

Cytoplasm. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Cytoplasmic in interphase cells. Associates with the kinetochores in early prophase. Kinetochore localization requires BUB1, PLK1 and CASC5.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BUB1B Gene COMPARTMENTS Subcellular localization image for BUB1B gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for BUB1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore TAS 9660858
GO:0000777 condensed chromosome kinetochore IDA 19465021
GO:0000778 condensed nuclear chromosome kinetochore IEA --
GO:0000940 condensed chromosome outer kinetochore IDA 19468067
GO:0005680 anaphase-promoting complex TAS 10477750
genes like me logo Genes that share ontologies with BUB1B: view

Pathways for BUB1B Gene

genes like me logo Genes that share pathways with BUB1B: view

Pathways by source for BUB1B Gene

1 Cell Signaling Technology pathway for BUB1B Gene
2 KEGG pathways for BUB1B Gene
1 GeneGo (Thomson Reuters) pathway for BUB1B Gene

Gene Ontology (GO) - Biological Process for BUB1B 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:0007067 mitotic nuclear division NAS 9763420
GO:0007091 metaphase/anaphase transition of mitotic cell cycle IEA --
genes like me logo Genes that share ontologies with BUB1B: view

Compounds for BUB1B Gene

(2) HMDB Compounds for BUB1B Gene

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

(4) Novoseek inferred chemical compound relationships for BUB1B Gene

Compound -log(P) Hits PubMed IDs
nocodazole 76.2 10
paclitaxel 59.5 14
vinblastine 13.3 1
doxorubicin 3.53 1
genes like me logo Genes that share compounds with BUB1B: view

Transcripts for BUB1B Gene

Unigene Clusters for BUB1B Gene

BUB1 mitotic checkpoint serine/threonine kinase B:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BUB1B

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BUB1B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - - - - -
SP2: - - - - - - - -
SP3:
SP4:
SP5: - -
SP6: -
SP7: - -
SP8:
SP9: -

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

Relevant External Links for BUB1B Gene

GeneLoc Exon Structure for
BUB1B
ECgene alternative splicing isoforms for
BUB1B

Expression for BUB1B Gene

mRNA expression in normal human tissues for BUB1B Gene

mRNA differential expression in normal tissues according to GTEx for BUB1B Gene

This gene is overexpressed in Testis (10.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BUB1B Gene

SOURCE GeneReport for Unigene cluster for BUB1B Gene Hs.513645

mRNA Expression by UniProt/SwissProt for BUB1B Gene

O60566-BUB1B_HUMAN
Tissue specificity: Highly expressed in thymus followed by spleen. Preferentially expressed in tissues with a high mitotic index.
genes like me logo Genes that share expressions with BUB1B: view

In Situ Assay Products

Orthologs for BUB1B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BUB1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BUB1B 35
  • 99.78 (n)
  • 99.81 (a)
BUB1B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BUB1B 35
  • 90.78 (n)
  • 88.94 (a)
BUB1B 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BUB1B 35
  • 90.98 (n)
  • 88.85 (a)
BUB1B 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bub1b 35
  • 80.25 (n)
  • 76.86 (a)
Bub1b 16
Bub1b 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BUB1B 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BUB1B 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bub1b 35
  • 81.53 (n)
  • 78.28 (a)
chicken
(Gallus gallus)
Aves BUB1B 35
  • 63.49 (n)
  • 56.05 (a)
BUB1B 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BUB1B 36
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Bub1b 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bub1b 35
  • 64.3 (n)
  • 59.41 (a)
Str.4385 35
zebrafish
(Danio rerio)
Actinopterygii bub1bb 35
  • 54.79 (n)
  • 47.44 (a)
bub1bb 36
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bub1 36
  • 16 (a)
ManyToMany
BubR1 36
  • 15 (a)
ManyToMany
Bub1 37
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea bub-1 36
  • 14 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUB1 36
  • 15 (a)
ManyToMany
MAD3 36
  • 20 (a)
ManyToMany
MAD3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons BUBR1 35
  • 45.73 (n)
  • 33.57 (a)
rice
(Oryza sativa)
Liliopsida Os02g0193600 35
  • 44.63 (n)
  • 34.97 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
ManyToMany
CSA.5042 36
  • 19 (a)
ManyToMany
Species with no ortholog for BUB1B:
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BUB1B Gene

ENSEMBL:
Gene Tree for BUB1B (if available)
TreeFam:
Gene Tree for BUB1B (if available)

Paralogs for BUB1B Gene

Paralogs for BUB1B Gene

genes like me logo Genes that share paralogs with BUB1B: view

Variants for BUB1B Gene

Sequence variations from dbSNP and Humsavar for BUB1B Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs480373 -- 40,186,004(-) AATAT(A/T)CAGTA intron-variant
rs483238 -- 40,193,435(-) agatg(A/G)tagta intron-variant
rs484876 -- 40,193,292(-) caata(A/G)aagct intron-variant
rs488480 -- 40,186,006(+) CTGAA(C/T)ATTGC intron-variant
rs497215 -- 40,160,953(+) ACAGG(A/C)ATAAA upstream-variant-2KB

Relevant External Links for BUB1B Gene

HapMap Linkage Disequilibrium report
BUB1B
Human Gene Mutation Database (HGMD)
BUB1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BUB1B Gene

Disorders for BUB1B Gene

(3) OMIM Diseases for BUB1B Gene (602860)

UniProtKB/Swiss-Prot

BUB1B_HUMAN
  • Note=Defects in BUB1B are associated with tumor formation.
  • Premature chromatid separation trait (PCS) [MIM:176430]: Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant. {ECO:0000269 PubMed:16411201}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]: A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269 PubMed:15475955}. Note=The disease is caused by mutations affecting the gene represented in this entry. MVA1 is caused by biallelic mutations in the BUB1B gene.

(14) Novoseek inferred disease relationships for BUB1B Gene

Disease -log(P) Hits PubMed IDs
microcephaly 42.1 1
microsatellite instability 41.6 2
cancer 41 20
childhood cancer 26.6 1
chromosomal aberrations 24 1

Relevant External Links for BUB1B

Genetic Association Database (GAD)
BUB1B
Human Genome Epidemiology (HuGE) Navigator
BUB1B
genes like me logo Genes that share disorders with BUB1B: view

Publications for BUB1B Gene

  1. The mouse mitotic checkpoint gene bub1b, a novel bub1 family member, is expressed in a cell cycle-dependent manner. (PMID: 9889005) Davenport J.W. … Goorha R. (Genomics 1999) 2 3 4 23
  2. Identification of a novel gene -- SSK1 -- in human endothelial cells exposed to shear stress. (PMID: 9618306) Donadelli R. … Noris M. (Biochem. Biophys. Res. Commun. 1998) 3 4 23
  3. 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
  4. Human BUBR1 is a mitotic checkpoint kinase that monitors CENP-E functions at kinetochores and binds the cyclosome/APC. (PMID: 10477750) Chan G.K. … Yen T.J. (J. Cell Biol. 1999) 3 4 23
  5. BUBR1 phosphorylation is regulated during mitotic checkpoint activation. (PMID: 10593653) Li W. … Dai W. (Cell Growth Differ. 1999) 3 4 23

Products for BUB1B Gene

  • Addgene plasmids for BUB1B

Sources for BUB1B Gene

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