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] See more...

Aliases for BUB3 Gene

Aliases for BUB3 Gene

  • BUB3 Mitotic Checkpoint Protein 2 3 5
  • Mitotic Checkpoint Protein BUB3 3 4
  • 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
  • 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. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Mitotic Metaphase and Anaphase. An important paralog of this gene is RAE1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for BUB3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BUB3 Gene

Genomics for BUB3 Gene

GeneHancer (GH) Regulatory Elements for BUB3 Gene

Promoters and enhancers for BUB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J123153 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 505.3 +0.7 733 2.8 ZBTB40 ZNF217 TCF12 SIN3A NRF1 POLR2G USF1 SP1 PHF8 SIX5 BUB3 RPS26P39
GH10J123155 Promoter 0.6 Ensembl 500.7 -1.5 -1544 1.4 EZH2 POLR2A ZSCAN4 BUB3 HMX2
GH10J122952 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 23.5 -200.5 -200544 3 ZBTB40 ZNF217 EP300 ZSCAN5C TCF12 SIN3A NRF1 USF1 POLR2G SP1 C10orf88 PSTK lnc-IKZF5-2 BUB3 NSMCE4A IKZF5
GH10J124030 Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +886.9 886856 20.2 FOXK2 TCF12 NRF1 POLR2G SP1 NCOR1 EP300 ZIC2 KDM6A TCF7 CHST15 BUB3 piR-55609 lnc-CPXM2-4
GH10J122306 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10.4 -844.8 -844840 6.5 EP300 FOXK2 ZSCAN5C TCF12 POLR2G NCOR1 JUND FOS ZNF10 ZIC2 BTBD16 IKZF5 BUB3 NSMCE4A HSALNG0081195 HSALNG0081198
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BUB3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BUB3

Top Transcription factor binding sites by QIAGEN in the BUB3 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • p53

Genomic Locations for BUB3 Gene

Genomic Locations for BUB3 Gene
chr10:123,154,244-123,170,467
(GRCh38/hg38)
Size:
16,224 bases
Orientation:
Plus strand
chr10:124,913,760-124,924,886
(GRCh37/hg19)
Size:
11,127 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, Lys139, Lys191, Lys216, and Lys322
  • Modification sites at PhosphoSitePlus

Other Protein References for BUB3 Gene

Antibody Products

  • Abcam antibodies for BUB3
  • Boster Bio Antibodies for BUB3
  • Santa Cruz Biotechnology (SCBT) Antibodies for BUB3

No data available for DME Specific Peptides for BUB3 Gene

Domains & Families for BUB3 Gene

Gene Families for BUB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BUB3 Gene

Blocks:
  • G-protein beta WD-40 repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BUB3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57899, highly similar to Mitotic checkpoint protein BUB3 (B4DDM6_HUMAN)
  • Mitotic checkpoint protein BUB3 (BUB3_HUMAN)

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

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.
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

Phenotypes From GWAS Catalog for BUB3 Gene

Gene Ontology (GO) - Molecular Function for BUB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 9660858
GO:0043130 ubiquitin binding IBA 21873635
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

Clone Products

  • Addgene plasmids 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 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IBA,IDA 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

Pathways by source for BUB3 Gene

SIGNOR curated interactions for BUB3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BUB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IEA --
GO:0006511 ubiquitin-dependent protein catabolic process TAS --
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
GO:0007094 mitotic spindle assembly checkpoint IBA 21873635
genes like me logo Genes that share ontologies with BUB3: view

Drugs & Compounds for BUB3 Gene

No Compound Related Data Available

Transcripts for BUB3 Gene

mRNA/cDNA for BUB3 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids 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

Expression for BUB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for BUB3 Gene



Protein tissue co-expression partners for BUB3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BUB3 30
  • 99.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BUB3 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BUB3 31 30
  • 93.54 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bub3 30
  • 91.08 (n)
mouse
(Mus musculus)
Mammalia Bub3 17 31 30
  • 90.36 (n)
oppossum
(Monodelphis domestica)
Mammalia BUB3 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves BUB3 31 30
  • 84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BUB3 31
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bub3 30
  • 79.53 (n)
Str.6267 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7644 30
zebrafish
(Danio rerio)
Actinopterygii bub3 31 30
  • 73.74 (n)
OneToOne
Dr.4431 30
fruit fly
(Drosophila melanogaster)
Insecta Bub3 31 32 30
  • 59.87 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010544 30
  • 59.16 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54G9A.6 32
  • 43 (a)
bub-3 31
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLE2 31
  • 32 (a)
OneToMany
BUB3 33
thale cress
(Arabidopsis thaliana)
eudicotyledons BUB3.2 30
  • 55.8 (n)
rice
(Oryza sativa)
Liliopsida Os03g0448600 30
  • 57.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 67 (a)
OneToOne
Cin.4375 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes bub3 30
  • 44.98 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4375 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for BUB3: view image

Paralogs for BUB3 Gene

Paralogs for BUB3 Gene

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

  • BUB3_HUMAN
  • B4DDM6_HUMAN
  • J3QSX4_HUMAN
  • J3QT28_HUMAN

Pseudogenes.org Pseudogenes for BUB3 Gene

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

Variants for BUB3 Gene

Additional dbSNP identifiers (rs#s) for BUB3 Gene

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)

Additional Variant Information for BUB3 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for BUB3 Gene

Disorders for BUB3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BUB3 Gene - From: Orphanet

Disorder Aliases PubMed IDs
mosaic variegated aneuploidy syndrome
  • mva syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BUB3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BUB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SS … McKeon F (The Journal of cell biology 1998) 2 3 4 23 54
  2. Phosphorylation of human MAD1 by the BUB1 kinase in vitro. (PMID: 10198256) Seeley TW … Zhen JY (Biochemical and biophysical research communications 1999) 3 4 23 54
  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 (Developmental cell 2014) 3 4 54
  4. BuGZ is required for Bub3 stability, Bub1 kinetochore function, and chromosome alignment. (PMID: 24462187) Toledo CM … Paddison PJ (Developmental cell 2014) 3 4 54
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54

Products for BUB3 Gene

Sources for BUB3 Gene