Human Gene BUB3 (uc001lhe.2)
  Description: Homo sapiens BUB3 mitotic checkpoint protein (BUB3), transcript variant 1, mRNA.
RefSeq Summary (NM_004725): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:124,913,760-124,924,886 Size: 11,127 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr10:124,914,434-124,923,351 Size: 8,918 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:124,913,760-124,924,886)mRNA (may differ from genome)Protein (328 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BUB3_HUMAN
DESCRIPTION: RecName: Full=Mitotic checkpoint protein BUB3;
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.
SUBUNIT: Interacts with BUB1 and BUBR1. The BUB1/BUB3 complex interacts with MAD1L1.
INTERACTION: Q5XI90:Dynlt3 (xeno); NbExp=2; IntAct=EBI-1050987, EBI-1781818;
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore (By similarity). 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 (By similarity).
PTM: Poly-ADP-ribosylated by PARP1 (By similarity).
SIMILARITY: Belongs to the WD repeat BUB3 family.
SIMILARITY: Contains 5 WD repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BUB3
CDC HuGE Published Literature: BUB3

-  MalaCards Disease Associations
  MalaCards Gene Search: BUB3
Diseases sorted by gene-association score: mosaic variegated aneuploidy syndrome* (202), giant cell glioblastoma (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 59.71 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1011.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.30242-0.410 Picture PostScript Text
3' UTR -377.671535-0.246 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020472 - G-protein_beta_WD-40_rep
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on O43684
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGD FlyBaseWormBase 
 Protein Sequence Protein SequenceProtein Sequence 
 Alignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0043130 ubiquitin binding

Biological Process:
GO:0000070 mitotic sister chromatid segregation
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0007094 mitotic spindle assembly checkpoint
GO:0008608 attachment of spindle microtubules to kinetochore
GO:0031145 anaphase-promoting complex-dependent catabolic process
GO:0051301 cell division
GO:0051321 meiotic cell cycle
GO:0051983 regulation of chromosome segregation

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005829 cytosol
GO:0033597 mitotic checkpoint complex
GO:1990298 bub1-bub3 complex


-  Descriptions from all associated GenBank mRNAs
  BX647392 - Homo sapiens mRNA; cDNA DKFZp686J24144 (from clone DKFZp686J24144).
AK312546 - Homo sapiens cDNA, FLJ92917, Homo sapiens BUB3 budding uninhibited by benzimidazoles 3 homolog(yeast) (BUB3), mRNA.
AK307958 - Homo sapiens cDNA, FLJ97906.
AK293255 - Homo sapiens cDNA FLJ57899 complete cds, highly similar to Mitotic checkpoint protein BUB3.
AF081496 - Homo sapiens kinetochore protein BUB3 (BUB3) mRNA, complete cds.
BC005138 - Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast), mRNA (cDNA clone MGC:1527 IMAGE:3504520), complete cds.
AF047472 - Homo sapiens spleen mitotic checkpoint BUB3 (BUB3) mRNA, complete cds.
AF047473 - Homo sapiens testis mitotic checkpoint BUB3 (BUB3) mRNA, complete cds.
BC022438 - Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast), mRNA (cDNA clone MGC:24748 IMAGE:4281970), complete cds.
AK226060 - Homo sapiens mRNA for BUB3 budding uninhibited by benzimidazoles 3 isoform a variant, clone: hg01710.
AF053304 - Homo sapiens mitotic checkpoint component Bub3 (BUB3) mRNA, complete cds.
HM005340 - Homo sapiens clone HTL-T-27 testicular tissue protein Li 27 mRNA, complete cds.
CU692616 - Synthetic construct Homo sapiens gateway clone IMAGE:100022217 5' read BUB3 mRNA.
AB463452 - Synthetic construct DNA, clone: pF1KB9385, Homo sapiens BUB3 gene for BUB3 budding uninhibited by benzimidazoles 3 homolog, without stop codon, in Flexi system.
AB590162 - Synthetic construct DNA, clone: pFN21AE1557, Homo sapiens BUB3 gene for budding uninhibited by benzimidazoles 3 homolog, without stop codon, in Flexi system.
DQ891852 - Synthetic construct clone IMAGE:100004482; FLH180614.01X; RZPDo839E02134D BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3) gene, encodes complete protein.
DQ895042 - Synthetic construct Homo sapiens clone IMAGE:100009502; FLH180610.01L; RZPDo839E02133D BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3) gene, encodes complete protein.
KJ892706 - Synthetic construct Homo sapiens clone ccsbBroadEn_02100 BUB3 gene, encodes complete protein.
KJ897977 - Synthetic construct Homo sapiens clone ccsbBroadEn_07371 BUB3 gene, encodes complete protein.
JD165124 - Sequence 146148 from Patent EP1572962.
JD304942 - Sequence 285966 from Patent EP1572962.
JD488945 - Sequence 469969 from Patent EP1572962.
JD504011 - Sequence 485035 from Patent EP1572962.
JD358229 - Sequence 339253 from Patent EP1572962.
JD310900 - Sequence 291924 from Patent EP1572962.
JD352191 - Sequence 333215 from Patent EP1572962.
JD290514 - Sequence 271538 from Patent EP1572962.
JD296806 - Sequence 277830 from Patent EP1572962.
JD491254 - Sequence 472278 from Patent EP1572962.
JD335551 - Sequence 316575 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04110 - Cell cycle

Reactome (by CSHL, EBI, and GO)

Protein O43684 (Reactome details) participates in the following event(s):

R-HSA-141437 Formation of the MCC complex
R-HSA-141423 Binding of the MCC complex to the APC/C complex
R-HSA-174238 Activation of APC/C:Cdc20 by dissociation of Cdc20:phospho-APC/C from Cdc20:phospho-APC/C:Mad2:Bub3:BubR1
R-HSA-174171 Association of Cyclin A with the APC/C
R-HSA-179410 Association of Nek2A with MCC:APC/C
R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-174104 Ubiquitination of Cyclin A by APC/C:Cdc20 complex
R-HSA-179417 Multiubiquitination of Nek2A
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141430 Inactivation of APC/C via direct inhibition of the APC/C complex
R-HSA-176409 APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-141405 Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
R-HSA-174184 Cdc20:Phospho-APC/C mediated degradation of Cyclin A
R-HSA-179409 APC-Cdc20 mediated degradation of Nek2A
R-HSA-176814 Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-176408 Regulation of APC/C activators between G1/S and early anaphase
R-HSA-179419 APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint
R-HSA-174143 APC/C-mediated degradation of cell cycle proteins
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-453276 Regulation of mitotic cell cycle
R-HSA-68882 Mitotic Anaphase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-1640170 Cell Cycle
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJ42, B2R6E7, BUB3_HUMAN, D3DRE9, NM_004725, NP_004716, O43684, O43685
UCSC ID: uc001lhe.2
RefSeq Accession: NM_004725
Protein: O43684 (aka BUB3_HUMAN)
CCDS: CCDS7635.1, CCDS31306.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004725.3
exon count: 8CDS single in 3' UTR: no RNA size: 2782
ORF size: 987CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2072.00frame shift in genome: no % Coverage: 99.35
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.