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Aliases for BUB3 Gene

Aliases for BUB3 Gene

  • BUB3, Mitotic Checkpoint Protein 2 3 5
  • BUB3 (Budding Uninhibited By Benzimidazoles 3, Yeast) Homolog 2
  • Budding Uninhibited By Benzimidazoles 3 Homolog (Yeast) 2
  • BUB3 Budding Uninhibited By Benzimidazoles 3 Homolog 3
  • Budding Uninhibited By Benzimidazoles 3 Homolog 3
  • Mitotic Checkpoint Protein BUB3 3
  • Testicular Tissue Protein Li 27 3
  • Budding Uninhibited By Benomyl 3
  • Mitotic Checkpoint Component 3
  • BUB3L 3
  • HBUB3 3

External Ids for BUB3 Gene

Previous GeneCards Identifiers for BUB3 Gene

  • GC10P123930
  • GC10P124163
  • GC10P124920
  • GC10P124454
  • GC10P124903
  • GC10P118531

Summaries for BUB3 Gene

Entrez Gene Summary for BUB3 Gene

  • This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for BUB3 Gene

BUB3 (BUB3, Mitotic Checkpoint Protein) is a Protein Coding gene. Diseases associated with BUB3 include Mosaic Variegated Aneuploidy Syndrome and Giant Cell Glioblastoma. Among its related pathways are Signaling by GPCR and APC-Cdc20 mediated degradation of Nek2A. An important paralog of this gene is RAE1.

UniProtKB/Swiss-Prot for BUB3 Gene

  • Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments. Necessary for kinetochore localization of BUB1. Regulates chromosome segregation during oocyte meiosis. The BUB1/BUB3 complex plays a role in the inhibition of anaphase-promoting complex or cyclosome (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.

Gene Wiki entry for BUB3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BUB3 Gene

Genomics for BUB3 Gene

Regulatory Elements for BUB3 Gene

Enhancers for BUB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around BUB3 on UCSC Golden Path with GeneCards custom track

Promoters for BUB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BUB3 on UCSC Golden Path with GeneCards custom track

Genomic Location for BUB3 Gene

Chromosome:
10
Start:
123,154,244 bp from pter
End:
123,170,467 bp from pter
Size:
16,224 bases
Orientation:
Plus strand

Genomic View for BUB3 Gene

Genes around BUB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BUB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BUB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BUB3 Gene

Proteins for BUB3 Gene

  • Protein details for BUB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43684-BUB3_HUMAN
    Recommended name:
    Mitotic checkpoint protein BUB3
    Protein Accession:
    O43684
    Secondary Accessions:
    • A6NJ42
    • B2R6E7
    • D3DRE9
    • O43685

    Protein attributes for BUB3 Gene

    Size:
    328 amino acids
    Molecular mass:
    37155 Da
    Quaternary structure:
    • Interacts with BUB1 and BUBR1. The BUB1/BUB3 complex interacts with MAD1L1. Interacts with ZNF207/BuGZ; leading to promote stability and kinetochore loading of BUB3.

    Alternative splice isoforms for BUB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BUB3 Gene

Post-translational modifications for BUB3 Gene

  • Poly-ADP-ribosylated by PARP1.
  • Ubiquitination at Lys 52, Lys 139, Lys 191, Lys 216, and Lys 322
  • Modification sites at PhosphoSitePlus

Other Protein References for BUB3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BUB3 (BUB3)
  • Abcam antibodies for Bub3

No data available for DME Specific Peptides for BUB3 Gene

Domains & Families for BUB3 Gene

Gene Families for BUB3 Gene

Suggested Antigen Peptide Sequences for BUB3 Gene

Graphical View of Domain Structure for InterPro Entry

O43684

UniProtKB/Swiss-Prot:

BUB3_HUMAN :
  • Belongs to the WD repeat BUB3 family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat BUB3 family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with BUB3: view

Function for BUB3 Gene

Molecular function for BUB3 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
UniProtKB/Swiss-Prot Function:
Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments. Necessary for kinetochore localization of BUB1. Regulates chromosome segregation during oocyte meiosis. The BUB1/BUB3 complex plays a role in the inhibition of anaphase-promoting complex or cyclosome (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.

Gene Ontology (GO) - Molecular Function for BUB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9660858
GO:0043130 ubiquitin binding IBA --
genes like me logo Genes that share ontologies with BUB3: view
genes like me logo Genes that share phenotypes with BUB3: view

Human Phenotype Ontology for BUB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BUB3 Gene

MGI Knock Outs for BUB3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BUB3 Gene

Localization for BUB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BUB3 Gene

Nucleus. Chromosome, centromere, kinetochore. Note=Starts to localize at kinetochores in prometaphase I (Pro-MI) stage and maintains the localization until the metaphase I-anaphase I (MI-AI) transition. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BUB3 Gene COMPARTMENTS Subcellular localization image for BUB3 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for BUB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IDA 9660858
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
GO:0033597 mitotic checkpoint complex IBA --
genes like me logo Genes that share ontologies with BUB3: view

Pathways & Interactions for BUB3 Gene

genes like me logo Genes that share pathways with BUB3: view

Gene Ontology (GO) - Biological Process for BUB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IEA --
GO:0007059 chromosome segregation IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0007094 mitotic spindle assembly checkpoint IBA --
GO:0008608 attachment of spindle microtubules to kinetochore IDA 18199686
genes like me logo Genes that share ontologies with BUB3: view

No data available for SIGNOR curated interactions for BUB3 Gene

Drugs & Compounds for BUB3 Gene

No Compound Related Data Available

Transcripts for BUB3 Gene

Unigene Clusters for BUB3 Gene

BUB3 mitotic checkpoint protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BUB3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
SP1: - -
SP2: - - - -
SP3: - -
SP4: -
SP5: -
SP6: - - -
SP7: - - -

Relevant External Links for BUB3 Gene

GeneLoc Exon Structure for
BUB3
ECgene alternative splicing isoforms for
BUB3

Expression for BUB3 Gene

mRNA expression in normal human tissues for BUB3 Gene

Protein differential expression in normal tissues from HIPED for BUB3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BUB3 Gene



Protein tissue co-expression partners for BUB3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BUB3 Gene:

BUB3

SOURCE GeneReport for Unigene cluster for BUB3 Gene:

Hs.418533
genes like me logo Genes that share expression patterns with BUB3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BUB3 Gene

Orthologs for BUB3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BUB3 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia BUB3 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bub3 35
  • 100 (a)
OneToOne
Bub3 16
Bub3 34
  • 90.36 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia BUB3 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BUB3 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BUB3 35
  • 100 (a)
OneToOne
BUB3 34
  • 93.54 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Bub3 34
  • 91.08 (n)
  • 100 (a)
chimpanzee
(Pan troglodytes)
Mammalia BUB3 34
  • 99.8 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves BUB3 35
  • 79 (a)
OneToOne
BUB3 34
  • 84 (n)
  • 96.92 (a)
lizard
(Anolis carolinensis)
Reptilia BUB3 35
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7644 34
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6267 34
bub3 34
  • 79.53 (n)
  • 93.21 (a)
zebrafish
(Danio rerio)
Actinopterygii bub3 35
  • 82 (a)
OneToOne
Dr.4431 34
bub3 34
  • 73.74 (n)
  • 86.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta Bub3 35
  • 60 (a)
OneToOne
Bub3 34
  • 59.87 (n)
  • 61.13 (a)
Bub3 36
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010544 34
  • 59.16 (n)
  • 62.04 (a)
worm
(Caenorhabditis elegans)
Secernentea bub-3 35
  • 41 (a)
OneToOne
Y54G9A.6 36
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUB3 37
GLE2 35
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BUB3.2 34
  • 55.8 (n)
  • 56.33 (a)
rice
(Oryza sativa)
Liliopsida Os03g0448600 34
  • 57.38 (n)
  • 56.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 67 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes bub3 34
  • 44.98 (n)
  • 38.01 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4375 34
Species where no ortholog for BUB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 BUB3 Gene

ENSEMBL:
Gene Tree for BUB3 (if available)
TreeFam:
Gene Tree for BUB3 (if available)

Paralogs for BUB3 Gene

Paralogs for BUB3 Gene

(2) SIMAP similar genes for BUB3 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for BUB3 Gene

genes like me logo Genes that share paralogs with BUB3: view

Variants for BUB3 Gene

Sequence variations from dbSNP and Humsavar for BUB3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs3168039 -- 123,165,363(+) CCCTT(A/G)AATGT utr-variant-3-prime
rs3729497 -- 123,155,866(+) TTTTT(A/T)AATTT intron-variant
rs3763739 -- 123,153,028(+) GGAAG(C/G)AGGGC upstream-variant-2KB
rs3763740 -- 123,153,551(+) AAAAA(C/G)AGCTC upstream-variant-2KB
rs3763741 -- 123,153,650(+) GGCTG(G/T)TCTGA upstream-variant-2KB

Variation tolerance for BUB3 Gene

Residual Variation Intolerance Score: 22.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.27; 5.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BUB3 Gene

Human Gene Mutation Database (HGMD)
BUB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BUB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BUB3 Gene

Disorders for BUB3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BUB3 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
mosaic variegated aneuploidy syndrome
  • mva syndrome
giant cell glioblastoma
  • monstrocellular sarcoma [obs]
- elite association - COSMIC cancer census association via MalaCards
Search BUB3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BUB3

Genetic Association Database (GAD)
BUB3
Human Genome Epidemiology (HuGE) Navigator
BUB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BUB3
genes like me logo Genes that share disorders with BUB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BUB3 Gene

Publications for BUB3 Gene

  1. 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) 2 3 4 22 65
  2. 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 22 65
  3. A microtubule-associated zinc finger protein, BuGZ, regulates mitotic chromosome alignment by ensuring Bub3 stability and kinetochore targeting. (PMID: 24462186) Jiang H. … Zheng Y. (Dev. Cell 2014) 3 4 65
  4. BuGZ is required for Bub3 stability, Bub1 kinetochore function, and chromosome alignment. (PMID: 24462187) Toledo C.M. … Paddison P.J. (Dev. Cell 2014) 3 4 65
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 65

Products for BUB3 Gene

Sources for BUB3 Gene

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