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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 APC-Cdc20 mediated degradation of Nek2A and Cell cycle. 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 CIViC summary , 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
GH10G123153 1.1 ENCODE 5.3 +0.5 478 2.3 PKNOX1 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 C10orf88 BUB3 GC10P123164
GH10G123392 1.2 FANTOM5 dbSUPER 1.7 +238.1 238093 0.5 HDGF TBP PKNOX1 TBL1XR1 BMI1 YBX1 EGR1 RELB ETV6 IKZF2 BUB3 HMX3 GC10P123367 ENSG00000225152
GH10G123157 1.1 ENCODE 0.7 +3.3 3307 0.6 HNRNPUL1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 HMX3 ACADSB IKZF5 BUB3 GC10P123164
GH10G123150 1 Ensembl ENCODE 0.7 -2.9 -2939 1.4 CTCF USF1 SUZ12 MAX RBBP5 ETS1 GATA2 POLR2A NFYB EED BUB3 HMX2
GH10G123147 1.1 Ensembl ENCODE 0.4 -5.4 -5423 3.0 ZSCAN4 RAD21 YY1 EGR1 FOS EGR2 NFYC NFIL3 CEBPA ZBTB33 C10orf88 BUB3 HMX2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000034650 457 1800 PKNOX1 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

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 Lys52, posLast=139139, posLast=191191, Lys216, and Lys322
  • 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.
Family:
  • Belongs to the WD repeat BUB3 family.
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
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

  • Addgene plasmids for BUB3
  • Applied Biological Materials Clones for BUB3

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BUB3 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for BUB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IDA,IEA 9660858
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
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:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0007067 mitotic nuclear division IEA --
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

  • Addgene plasmids for BUB3
  • Applied Biological Materials Clones for BUB3

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for BUB3 Gene

  • Nervous system(4.9)
  • Spleen(4.3)
  • Lung(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BUB3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • aorta
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • penis
  • placenta
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • white blood cell
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
dog
(Canis familiaris)
Mammalia BUB3 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BUB3 34
  • 99.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BUB3 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BUB3 34 35
  • 93.54 (n)
rat
(Rattus norvegicus)
Mammalia Bub3 34
  • 91.08 (n)
mouse
(Mus musculus)
Mammalia Bub3 34 16 35
  • 90.36 (n)
oppossum
(Monodelphis domestica)
Mammalia BUB3 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves BUB3 34 35
  • 84 (n)
lizard
(Anolis carolinensis)
Reptilia BUB3 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bub3 34
  • 79.53 (n)
Str.6267 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7644 34
zebrafish
(Danio rerio)
Actinopterygii bub3 34 35
  • 73.74 (n)
Dr.4431 34
fruit fly
(Drosophila melanogaster)
Insecta Bub3 36 34 35
  • 59.87 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010544 34
  • 59.16 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54G9A.6 36
  • 43 (a)
bub-3 35
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLE2 35
  • 32 (a)
OneToMany
BUB3 37
thale cress
(Arabidopsis thaliana)
eudicotyledons BUB3.2 34
  • 55.8 (n)
rice
(Oryza sativa)
Liliopsida Os03g0448600 34
  • 57.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 67 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes bub3 34
  • 44.98 (n)
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
rs1000200858 -- 123,164,880(+) CAAAT(A/G)TATGT intron-variant, utr-variant-3-prime
rs1000290886 -- 123,165,169(+) TGTCT(C/T)ACAAG utr-variant-3-prime
rs1000324840 -- 123,154,470(+) TGCTT(C/T)TGAGG utr-variant-5-prime
rs1000457644 -- 123,156,421(+) AGATA(C/T)GACTA intron-variant
rs1000575695 -- 123,154,674(+) GCATC(A/G)CTGTG intron-variant

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, DISEASES, and GeneCards

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 64
  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 64
  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 64
  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 64
  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 64

Products for BUB3 Gene

  • Addgene plasmids for BUB3

Sources for BUB3 Gene

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