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Aliases for BUB1B Gene

Aliases for BUB1B Gene

  • BUB1 Mitotic Checkpoint Serine/Threonine Kinase B 2 3 5
  • MAD3/BUB1-Related Protein Kinase 3 4
  • Mitotic Checkpoint Kinase MAD3L 3 4
  • HBUBR1 3 4
  • BUBR1 3 4
  • MAD3L 3 4
  • 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
  • BUB1B, Mitotic Checkpoint Serine/Threonine Kinase 3
  • Protein SSK1 4
  • EC 2.7.11.1 4
  • BUB1beta 3
  • BUB1A 3
  • MVA1 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 Mosaic Variegated Aneuploidy Syndrome. Among its related pathways are PLK1 signaling events and APC-Cdc20 mediated degradation of Nek2A. 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 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BUB1B Gene

Genomics for BUB1B Gene

Regulatory Elements for BUB1B Gene

Enhancers for BUB1B 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
GH15G040090 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.5 -60.7 -60651 18.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 DNAJC17 ENSG00000259211 BMF CHST14 SRP14-AS1 SRP14 RAD51-AS1 PLCB2 BUB1B EIF2AK4
GH15G040115 1.5 Ensembl ENCODE dbSUPER 11.2 -45.1 -45109 1.1 HDGF WRNIP1 ARID4B DMAP1 ZNF48 ZNF143 JUNB REST TBX21 KAT8 BUB1B SRP14 SRP14-AS1 PAK6 C15orf56 BMF ENSG00000259239
GH15G040088 1.5 Ensembl ENCODE dbSUPER 10.5 -71.9 -71865 2.2 ARID4B DMAP1 ZNF48 YY1 ZNF121 ZNF263 SP5 MXD4 PPARG KAT8 SRP14-AS1 SRP14 BUB1B PAK6 C15orf56 PIR45495 ENSG00000259409
GH15G040062 1.5 Ensembl ENCODE dbSUPER 10.4 -96.7 -96651 3.0 HDGF ARID4B ZNF48 FOS NFYC MXD4 JUNB REST MIER2 TBX21 SRP14 EIF2AK4 SRP14-AS1 BMF BUB1B PLCB2 RPLP0P10 PAK6 C15orf56 GC15M040064
GH15G040087 1 ENCODE dbSUPER 10.5 -73.6 -73632 0.7 TAL1 ZNF133 MAX YY1 TCF12 ZFHX2 FOS NFE2 NFE2L2 RNF2 SRP14-AS1 BMF SRP14 BUB1B EIF2AK4 PAK6 C15orf56 PIR48167 LOC105370787
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BUB1B on UCSC Golden Path with GeneCards custom track

Promoters for BUB1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075468 691 1801 PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for BUB1B Gene

Chromosome:
15
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

Genes around BUB1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BUB1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 KNL1.
    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

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 posLast=995995
  • Modification sites at PhosphoSitePlus

Other Protein References for BUB1B Gene

No data available for DME Specific Peptides for BUB1B Gene

Domains & Families 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 :
  • The D-box targets the protein for rapid degradation by ubiquitin-dependent proteolysis during the transition from mitosis to interphase.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. BUB1 subfamily.
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.
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 9660858
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with BUB1B: view

Phenotypes for BUB1B Gene

MGI mutant phenotypes for BUB1B:
inferred from 5 alleles
GenomeRNAi human phenotypes for BUB1B:
genes like me logo Genes that share phenotypes with BUB1B: view

Human Phenotype Ontology for BUB1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BUB1B Gene

MGI Knock Outs for BUB1B:

Animal Model Products

  • Taconic Biosciences Mouse Models for BUB1B

CRISPR Products

miRNA for BUB1B Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BUB1B

Flow Cytometry Products

No data available for Transcription Factor Targets 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 KNL1.

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 BUB1B gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for BUB1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 colocalizes_with kinetochore TAS 9660858
GO:0000777 condensed chromosome kinetochore IEA,IDA 19465021
GO:0000778 condensed nuclear chromosome kinetochore IBA --
GO:0000940 condensed chromosome outer kinetochore IDA 19468067
genes like me logo Genes that share ontologies with BUB1B: view

Pathways & Interactions for BUB1B Gene

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

SIGNOR curated interactions for BUB1B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BUB1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle NAS 9763420
GO:0006468 protein phosphorylation IEA --
GO:0006915 apoptotic process IEA --
GO:0007049 cell cycle IEA --
GO:0007062 sister chromatid cohesion TAS --
genes like me logo Genes that share ontologies with BUB1B: view

Drugs & Compounds for BUB1B Gene

(5) Drugs for BUB1B Gene - From: HMDB and Novoseek

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

(1) Additional Compounds for BUB1B Gene - From: HMDB

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 BUB1B: view

Transcripts for BUB1B Gene

Unigene Clusters for BUB1B Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BUB1B

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for BUB1B Gene

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

This gene is overexpressed in Testis (x10.1).

Protein differential expression in normal tissues from HIPED for BUB1B Gene

This gene is overexpressed in Testis (20.3), Platelet (10.3), Bone (9.9), and Breast (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BUB1B Gene



Protein tissue co-expression partners for BUB1B Gene

NURSA nuclear receptor signaling pathways regulating expression of BUB1B Gene:

BUB1B

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.

Evidence on tissue expression from TISSUES for BUB1B Gene

  • Nervous system(4.4)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BUB1B 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
  • stomach
Pelvis:
  • anus
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • 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 BUB1B: view

Primer 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 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia BUB1B 34 35
  • 90.98 (n)
cow
(Bos Taurus)
Mammalia BUB1B 34 35
  • 90.78 (n)
rat
(Rattus norvegicus)
Mammalia Bub1b 34
  • 81.53 (n)
mouse
(Mus musculus)
Mammalia Bub1b 34 16 35
  • 80.25 (n)
oppossum
(Monodelphis domestica)
Mammalia BUB1B 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BUB1B 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves BUB1B 34 35
  • 63.49 (n)
lizard
(Anolis carolinensis)
Reptilia BUB1B 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bub1b 34
  • 64.3 (n)
Str.4385 34
African clawed frog
(Xenopus laevis)
Amphibia Bub1b 34
zebrafish
(Danio rerio)
Actinopterygii bub1bb 34 35
  • 54.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta Bub1 36 35
  • 31 (a)
BubR1 35
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea bub-1 35
  • 14 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAD3 35 37
  • 20 (a)
ManyToMany
BUB1 35
  • 15 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BUBR1 34
  • 45.73 (n)
rice
(Oryza sativa)
Liliopsida Os02g0193600 34
  • 44.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
CSA.5042 35
  • 19 (a)
ManyToMany
Species where no ortholog for BUB1B was found in the sources mined by GeneCards:
  • 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

Variants for BUB1B Gene

Sequence variations from dbSNP and Humsavar for BUB1B Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1801528 Benign, Colorectal cancer 40,206,302(+) TTTTG(C/T)ATCCA intron-variant, reference, missense
rs28989181 Pathogenic, Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] 40,212,643(+) TCACC(C/T)TTCAG intron-variant, reference, missense
rs28989182 Pathogenic, Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] 40,212,554(+) GGAAC(A/G)TTTAA intron-variant, reference, missense
rs28989183 Pathogenic, Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] 40,217,580(+) GTGCA(C/G)CTGGA intron-variant, reference, missense, utr-variant-5-prime
rs28989184 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] 40,217,543(+) GAAGA(C/T)AGTGG intron-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for BUB1B Gene

Variant ID Type Subtype PubMed ID
nsv1108948 CNV deletion 24896259

Variation tolerance for BUB1B Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.75; 73.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BUB1B Gene

Human Gene Mutation Database (HGMD)
BUB1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BUB1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BUB1B Gene

Disorders for BUB1B Gene

MalaCards: The human disease database

(8) MalaCards diseases for BUB1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BUB1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BUB1B_HUMAN
  • 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.
  • 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.

Relevant External Links for BUB1B

Genetic Association Database (GAD)
BUB1B
Human Genome Epidemiology (HuGE) Navigator
BUB1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BUB1B
genes like me logo Genes that share disorders with BUB1B: view

No data available for Genatlas for BUB1B Gene

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 22 64
  2. BubR1 acetylation at prometaphase is required for modulating APC/C activity and timing of mitosis. (PMID: 19407811) Choi E. … Lee H. (EMBO J. 2009) 3 4 22 64
  3. Depletion of BubR1 promotes premature centrosomal localization of cyclin B1 and accelerates mitotic entry. (PMID: 19411850) Park S.-Y. … Cho H. (Cell Cycle 2009) 3 4 22 64
  4. BubR1 localizes to centrosomes and suppresses centrosome amplification via regulating Plk1 activity in interphase cells. (PMID: 19503101) Izumi H. … Matsuura S. (Oncogene 2009) 3 4 22 64
  5. Phosphorylation sites in BubR1 that regulate kinetochore attachment, tension, and mitotic exit. (PMID: 19015317) Huang H. … Yen T.J. (J. Cell Biol. 2008) 3 4 22 64

Products for BUB1B Gene

Sources for BUB1B Gene

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