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Bub1b Gene Detail
Summary
  • Symbol
    Bub1b
  • Name
    BUB1B, mitotic checkpoint serine/threonine kinase
  • Synonyms
    BUBR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333889
    NCBI Gene: 12236
  • Gene Overview
    MyGene.info: BUB1B
Location & Maps
more
  • Sequence Map
    Chr2:118598211-118641591 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      43381 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 59.40 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    BUB1B, BUB1 mitotic checkpoint serine/threonine kinase B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BUB1B, BUB1 mitotic checkpoint serine/threonine kinase B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    Bub1A, BUB1beta, BUBR1, hBUBR1, MAD3L, MVA1, SSK1
  • Links
    NCBI Gene ID: 701
    neXtProt AC: NX_O60566

  • Chr Location
    15q15; chr15:40161009-40221136 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 933
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: BUB1B
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Bub1b mouse models; 3 with human BUB1B associations

Human Disease Mouse Models
       Mosaic Variegated Aneuploidy Syndrome 1; MVA1   OMIM: 257300 View 1 model
       Colorectal Cancer; CRC   OMIM: 114500
Premature Chromatid Separation Trait; PCS   OMIM: 176430
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 5 alleles in 6 genetic backgrounds
    6 images
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    33
  • Chemically induced (other)
    1
  • Gene trapped
    25
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Bub1b
  • Incidental Mutations
Homozygous mutant embryos undergo extensive apoptosis and die during early gestation. Heterozygous mice are viable and exhibit splenomegaly, abnormal megakaryopoiesis, and an increased susceptibility to intestinal tumorigenesis. Hypomorphic homozygotes display infertility and premature aging.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015367 VEGA Gene Model | MGI Sequence Detail 43381 C57BL/6J ±  kb
transcript OTTMUST00000036418 VEGA | MGI Sequence Detail 3668 Not Applicable  
polypeptide OTTMUSP00000016369 VEGA | MGI Sequence Detail 1052 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    424 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000004855 mitotic checkpoint serine/threonine-protein kinase BUB1 beta
  • EC
  • InterPro Domains
    IPR013212 Mad3/Bub1 homology region 1
    IPR015661 Mitotic spindle checkpoint protein Bub1/Mad3
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
Molecular
Reagents
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  • All nucleic 143
    cDNA 140
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
less
MGI:2139222
References
more
  • Summaries
    All 80
    Developmental Gene Expression 12
    Diseases 1
    Gene Ontology 13
    Phenotypes 32
  • Earliest
    J:52194 Davenport JW, et al., The mouse mitotic checkpoint gene bub1b, a novel bub1 family member, is expressed in a cell cycle-dependent manner. Genomics. 1999 Jan 1;55(1):113-7
  • Latest
    J:233305 Pfau SJ, et al., Aneuploidy impairs hematopoietic stem cell fitness and is selected against in regenerating tissues in vivo. Genes Dev. 2016 Jun 15;30(12):1395-408

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory