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BUB1 (budding uninhibited by benzimidazoles 1 homolog (yeast))

Written2011-07Victor M Bolanos-Garcia, Tom L Blundell
Department of Biochemistry, University of Cambridge, CB2 1GA, Cambridge, UK

(Note : for Links provided by Atlas : click)

Identity

Alias_namesBUB1L
budding uninhibited by benzimidazoles 1 (yeast homolog)
budding uninhibited by benzimidazoles 1 homolog (yeast)
Alias_symbol (synonym)hBUB1
BUB1A
Other alias
HGNC (Hugo) BUB1
LocusID (NCBI) 699
Atlas_Id 853
Location 2q13  [Link to chromosome band 2q13]
Location_base_pair Starts at 110637698 and ends at 110678107 bp from pter ( according to hg19-Feb_2009)  [Mapping BUB1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BUB1 (2q13) / BUB1 (2q13)BUB1 (2q13) / RGS2 (1q31.2)GAPDH (12p13.31) / BUB1 (2q13)
Note The multidomain protein kinase BUB1 is a central component of the mitotic checkpoint for spindle assembly (SAC). This evolutionary conserved and essential self-monitoring system of the eukaryotic cell cycle ensures the high fidelity of chromosome segregation by delaying the onset of anaphase until all chromosomes are properly bi-oriented on the microtubule spindle.

DNA/RNA

 
  Figure 1. Schematic representation of the human bub1 gene demonstrating the relative size of each of the 25 exons (introns are not drawn to scale).
Note [Annexed document]
 
Description The gene spans 40.2 kb and is composed of 25 exons.
Transcription NM_004336.3, see pdf above.

Protein

Note Uniprot accession number: NP_004327.1.
ENZYME entry (serine/threonine protein kinase): EC 2.7.11.1.
A}ino ic)d sequence (FASTA format): see pdf above.
 
  Figure 2. Domain organization of BUB1. Three main regions can be identified in the BUB1 gene product: a conserved N-terminal region, which contains the kinetochore localization domain; an intermediate, non-conserved region, which is required for Bub3 binding; and a C-terminal region containing a catalytic serine/threonine kinase domain. The main functions associated with the different BUB1 regions are also indicated.
Description 1085 amino acids, 122.37 kDa.
Expression Ubiquituously expressed.
Localisation Cytoplasmic in interphase cells. It is localized in nuclear kinetochores in cells with an unsatisfied mitotic checkpoint in a process that requires BUB1 binding to Blinkin and BUB3.
Function BUB1 is required for chromosome congression, kinetochore localization of BUBR1, CENP-E, CENP-F and Mad2 in cells with mitotic checkpoint unsatisfied and for the establishment and/or maintenance of efficient bipolar attachment to spindle microtubules (Johnson et al., 2004; Lampson and Kapoor, 2005; McGuinness et al., 2009). Deletion of Bub1 from S. pombe increases the rate of chromosome missegregation (Bernard et al., 1998) while deletion of Bub1 from S. cerevisiae results in slow growth and elevated chromosome loss (Warren et al., 2002).
BUB1 is recruited very early in prophase (Wong and Fang, 2006) and is essential for assembly of the functional inner centromere (Taylor et al., 1998; Boyarchuk et al., 2007). It accumulates at the kinetochore in SAC-activated cells and assures the correct kinetochore formation.
The N-terminal region mediates the binding of BUB1 to the mitotic kinetochore protein Blinkin (a protein also commonly referred to as KNL1/Spc105/AF15q14); the interaction is essential for the kinetochore localization of BUB1 induced in cells with an unsatisfied mitotic checkpoint (Kiyomitsu et al., 2007). N-terminal BUB1 is organised as a triple tandem of the TPR motif (Bolanos-Garcia et al., 2009). In fission yeast, the Bub1 N-terminal residues 1-179 are required for targeting the protein Shugoshin 1 (SGO1) to centromeres (Vaur et al., 2005) while deletion of residues 28-160 results in a truncated protein unable to recruit Bub3 and Mad3/BUB1B to kinetochores (Vanoosthuyse et al., 2004). The C-terminal region contains a catalytic, serine threonine kinase domain that resembles the mechanism of activation of CDKs by cyclins (Kang et al., 2008).
Homology The bub1 gene is conserved in chimpanzee, cow, mouse, rat, chicken, and zebrafish. Homology exists with the gene encoding for the mitotic checkpoint kinase BUBR1 (a BUB1 paralogue) (Bolanos-Garcia and Blundell, 2011).

Mutations

Note
Bub1 region
Mutation
Residue
Domain
Clinical condition
Reference
N-terminal
GAG→GAT
E36→D
TPR domain
Colorectal cancer
Cahill et al., 1999
Deletion
Δ76-141, frameshift
Colorectal cancer
Cahill et al., 1998
GCT→TCT
A130→S
Lymph node metastasis
Shichiri et al., 2002
G→A
140, transition of the splicing donor site
Colorectal cancer
Cahill et al., 1998
GLEBS motif
CGA→CAA
R209→Q
Lung cancer
Sato et al., 2000
GGT→GAT
G250→N
ATLL
Ohshima et al., 2000*
TAT→TGT
Y259→C
Pancreatic cancer
Hempen et al., 2003
CAC→AAC
H265→N
Pancreatic cancer
Hempen et al., 2003
Middle region of low structural complexity
TCC→TTC
S375→F
Colorectal cancer
Saeki et al., 2002
TCT→TAT
S492→Y
Colorectal cancer
Cahill et al., 1998
AAG→AGG
K566→R
Colorectal cancer
Saeki et al., 2002
CCC→CGC
P648→R
Colorectal cancer
Cahill et al., 1999
C-terminal
Deletion
Δ827, frameshift
Tyroid follicular adenoma
Ouyang et al., 2002
S950→G
Kinase domain
Colorectal cancer
Imai et al., 1999

Table 1. Human bub1 mutations associated with cancer. *These authors incorrectly number these residues; the numbering shown here is the correct.

The following somatic mutations have been reported to date: A130->S (Shichiri et al., 2002); deletion delta76-141 (Cahill et al., 1998); 140, transition of the splicing donor site (Cahill et al., 1998); S492->Y (Cahill et al., 1998); deletion delta827 (Ouyang et al., 2002); G250->N (Ohshima et al., 2000); S950->G (Imai et al., 1999); Y259->C (Hempen et al., 2003); H265->N (Hempen et al., 2003). It could not be determined whether the R209->Q substitution was the result of a somatic mutation or due to a rare polymorphism because constitutional DNA from the patient harbouring this mutation was not available (Sato et al., 2000). The clinical condition associated to each mutation is described in Table 1. The mapping of residues substitutions onto the BUB1 domains is depicted in Figure 3.

 
  Figure 3. Mapping of cancer associated substitutions onto the amino acid sequence of human BUB1.

Implicated in

Note
  
Entity Colorectal cancer
Disease Colorectal cancer, also referred to as bowel cancer, is characterized by neoplasia in the colon, rectum, or vermiform appendix. Colorectal cancer is the third most commonly diagnosed cancer in the world and fourth most frequent cause of cancer death in males. More than half of the people who die of colorectal cancer live in a developed region of the world.
Cytogenetics RT-PCR mediated amplification and direct sequencing of the entire BUB1 coding region in the colorectal cancer cell line V400 revealed an internal deletion of 197 bp of this gene (Cahill et al., 1998). The deletion results in the remotion of codons 76 to 141 and creates a frameshift immediately thereafter. Sequence analysis of cDNA from another colorectal cancer cell line, V429, revealed a missense mutation at codon 492 that resulted in the substitution of tyrosine for a conserved serine (Cahill et al., 1998). The V400 and V429 mutations were heterozygous, somatic and present in primary tumours but not in normal tissues. Another heterozygous BUB1 missense mutation (AGT to GGT) at codon 950 has been identified (Imai et al., 1999).
  
  
Entity Hepatocellular carcinoma (HCC)
Disease Hepatocellular carcinoma (HCC) is one of the most common tumors worldwide and it accounts for most liver cancers. HCC occurs more often in men than women and is more common in people ages 30-50. Hepatitis virus infection, alcohol consumption, and dietary exposure to toxins such as aflatoxin B1 are associated with the occurrence of HCC.
Cytogenetics Two BUB1 gene variants have been identified in HCC specimens (Saeki et al., 2002). The expression product of one variant has a serine (TCC) substituted for phenylalanine (TTC) at codon 375 while the other has a lysine (AAG) substituted for arginine (AGG) at codon 566 (Saeki et al., 2002). S375F showed a well-differentiated HCC in cirrhotic liver caused by hepatitis B virus, whereas K566R showed a moderately differentiated HCC in hepatitis C virus induced cirrhotic liver. Genomic DNA extracted from nontumorous liver tissue revealed the same variants in both cases.
  
  
Entity Lung cancer
Disease Lung cancer is the most frequently diagnosed cancer among men. The mortality rate is the highest among men and the second highest among women worldwide. The main types of lung cancer are small-cell lung carcinoma and non-small-cell lung carcinoma. Non-small-cell lung carcinoma is sometimes treated with surgery, while small-cell lung carcinoma usually responds better to chemotherapy and radiation. Lung cancer cells harbour many cytogenetic abnormalities suggestive of allele loss, including non-reciprocal translocations and aneuploidy. The stage of 4he dIse`se is a strong predictor of survival, suggesting that early detection is needed for improvement in treatment outcomes.
Cytogenetics A nucleotide change of the BUB1 gene that results in the substitution of Arginine by Glutamine R209Q has been identified in the cell line NCI-H345 (Sato et al., 2000). Unfortunately, it was not possible to determine whether the change was a somatic mutation or a rare polymorphism because constitutional DNA from this patient was not available.
  
  
Entity Adult T-cell leukaemia/lymphoma (ATLL)
Disease Lymphomas, malignancies of the lymphoid cells, are divided on the basis of their pathologic features into Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL). Adult T-cell leukemia/lymphoma (ATLL) is usually a highly aggressive non-Hodgkin's lymphoma of the patient's own T-cells with no characteristic histologic appearance except for a diffuse pattern and a mature T-cell phenotype. The frequent isolation of HTLV-1 from patients with this disease and the detection of HTLV-1 proviral genome in ATLL leukemic cells suggest that HTLV-1 causes ATLL.
Cytogenetics A BUB1 missense mutation of G to A at codon 250 (GGT to GAT) has been reported (Ohshima et al., 2000).
  
  
Entity Pancreatic cancer
Disease The term pancreatic cancer usually refers to adenocarcinoma that arises within the exocrine component of the pancreas. Pancreatic cancer is one of the most aggressive diseases with most cancers and often has a poor prognosis: for all stages combined, the 1- and 5-year relative survival rates are 25% and 6%, respectively; for local disease the 5-year survival is approximately 20% while the median survival for locally advanced and for metastatic disease, which collectively represent over 80% of individuals, is about 10 and 6 months respectively.
Cytogenetics Two missense variants in the BUB1 gene have been identified in the aneuploid pancreatic cell line Hs766T (Hempen et al., 2003). These mutations are found in the same allele, accompanied by a wild-type BUB1 allele. Mutation of nucleotide 776 from an adenine to a guanine results in an amino acid change at codon 259 from tyrosine to cysteine (Y259C). A second mutation at nucleotide 793 changed a cytosine to an adenine (C to A) thus resulting in the mutant H265N (Hempen et al., 2003).
  
  
Entity Thyroid follicular adenoma
Disease Almost all thyroid adenomas are follicular adenomas. Follicular adenomas can be described as "cold", "warm" or "hot" depending on their level of function. Histopathologically, follicular adenomas can be classified according to their cellular architecture and relative amounts of cellularity and colloid into the following types:
- fetal (microfollicular), which have the potential for microinvasion,
- colloid (macrofollicular), which do not have any potential for microinvasion,
- embryonal (atypical), which have the potential for microinvasion.
Cytogenetics A thyroid follicular carcinoma that has a 2-bp somatic deletion (G2480/A2481) of BUB1 has been reported by Ouyang and collaborators (2002).
  
  
Entity Lymph node metastasis
Disease Certain cancers spread in a predictable fashion from where the cancer started. Because the flow of lymph is directional, if the cancer spreads it will spread first to lymph nodes close to the tumor before it spreads to other parts of the body.
Cytogenetics A BUB1 missense somatic mutation (nucleotide 437 GCT to TCT transition) that replaces Ala to Ser at codon 130 has been identified in an ascending colorectal carcinoma (Shichiri et al., 2002).
  

Bibliography

Fission yeast bub1 is a mitotic centromere protein essential for the spindle checkpoint and the preservation of correct ploidy through mitosis.
Bernard P, Hardwick K, Javerzat JP.
J Cell Biol. 1998 Dec 28;143(7):1775-87.
PMID 9864354
 
BUB1 and BUBR1: multifaceted kinases of the cell cycle.
Bolanos-Garcia VM, Blundell TL.
Trends Biochem Sci. 2011 Mar;36(3):141-50. Epub 2010 Oct 15. (REVIEW)
PMID 20888775
 
Bub1 is essential for assembly of the functional inner centromere.
Boyarchuk Y, Salic A, Dasso M, Arnaoutov A.
J Cell Biol. 2007 Mar 26;176(7):919-28.
PMID 17389228
 
Mutations of mitotic checkpoint genes in human cancers.
Cahill DP, Lengauer C, Yu J, Riggins GJ, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B.
Nature. 1998 Mar 19;392(6673):300-3.
PMID 9521327
 
Characterization of MAD2B and other mitotic spindle checkpoint genes.
Cahill DP, da Costa LT, Carson-Walter EB, Kinzler KW, Vogelstein B, Lengauer C.
Genomics. 1999 Jun 1;58(2):181-7.
PMID 10366450
 
A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T.
Hempen PM, Kurpad H, Calhoun ES, Abraham S, Kern SE.
Hum Mutat. 2003 Apr;21(4):445.
PMID 12655561
 
Mutational inactivation of mitotic checkpoint genes, hsMAD2 and hBUB1, is rare in sporadic digestive tract cancers.
Imai Y, Shiratori Y, Kato N, Inoue T, Omata M.
Jpn J Cancer Res. 1999 Aug;90(8):837-40.
PMID 10543255
 
Bub1 is required for kinetochore localization of BubR1, Cenp-E, Cenp-F and Mad2, and chromosome congression.
Johnson VL, Scott MI, Holt SV, Hussein D, Taylor SS.
J Cell Sci. 2004 Mar 15;117(Pt 8):1577-89.
PMID 15020684
 
Structure and substrate recruitment of the human spindle checkpoint kinase Bub1.
Kang J, Yang M, Li B, Qi W, Zhang C, Shokat KM, Tomchick DR, Machius M, Yu H.
Mol Cell. 2008 Nov 7;32(3):394-405.
PMID 18995837
 
Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1.
Kiyomitsu T, Obuse C, Yanagida M.
Dev Cell. 2007 Nov;13(5):663-76.
PMID 17981135
 
The human mitotic checkpoint protein BubR1 regulates chromosome-spindle attachments.
Lampson MA, Kapoor TM.
Nat Cell Biol. 2005 Jan;7(1):93-8. Epub 2004 Dec 12.
PMID 15592459
 
Regulation of APC/C activity in oocytes by a Bub1-dependent spindle assembly checkpoint.
McGuinness BE, Anger M, Kouznetsova A, Gil-Bernabe AM, Helmhart W, Kudo NR, Wuensche A, Taylor S, Hoog C, Novak B, Nasmyth K.
Curr Biol. 2009 Mar 10;19(5):369-80. Epub 2009 Feb 26.
PMID 19249208
 
Mutation analysis of mitotic checkpoint genes (hBUB1 and hBUBR1) and microsatellite instability in adult T-cell leukemia/lymphoma.
Ohshima K, Haraoka S, Yoshioka S, Hamasaki M, Fujiki T, Suzumiya J, Kawasaki C, Kanda M, Kikuchi M.
Cancer Lett. 2000 Oct 1;158(2):141-50.
PMID 10960763
 
Mechanisms of aneuploidy in thyroid cancer cell lines and tissues: evidence for mitotic checkpoint dysfunction without mutations in BUB1 and BUBR1.
Ouyang B, Knauf JA, Ain K, Nacev B, Fagin JA.
Clin Endocrinol (Oxf). 2002 Mar;56(3):341-50.
PMID 11940046
 
Frequent impairment of the spindle assembly checkpoint in hepatocellular carcinoma.
Saeki A, Tamura S, Ito N, Kiso S, Matsuda Y, Yabuuchi I, Kawata S, Matsuzawa Y.
Cancer. 2002 Apr 1;94(7):2047-54.
PMID 11932908
 
Infrequent mutation of the hBUB1 and hBUBR1 genes in human lung cancer.
Sato M, Sekido Y, Horio Y, Takahashi M, Saito H, Minna JD, Shimokata K, Hasegawa Y.
Jpn J Cancer Res. 2000 May;91(5):504-9.
PMID 10835495
 
Genetic and epigenetic inactivation of mitotic checkpoint genes hBUB1 and hBUBR1 and their relationship to survival.
Shichiri M, Yoshinaga K, Hisatomi H, Sugihara K, Hirata Y.
Cancer Res. 2002 Jan 1;62(1):13-7.
PMID 11782350
 
Kinetochore localization of murine Bub1 is required for normal mitotic timing and checkpoint response to spindle damage.
Taylor SS, McKeon F.
Cell. 1997 May 30;89(5):727-35.
PMID 9182760
 
Kinetochore targeting of fission yeast Mad and Bub proteins is essential for spindle checkpoint function but not for all chromosome segregation roles of Bub1p.
Vanoosthuyse V, Valsdottir R, Javerzat JP, Hardwick KG.
Mol Cell Biol. 2004 Nov;24(22):9786-801.
PMID 15509783
 
Control of Shugoshin function during fission-yeast meiosis.
Vaur S, Cubizolles F, Plane G, Genier S, Rabitsch PK, Gregan J, Nasmyth K, Vanoosthuyse V, Hardwick KG, Javerzat JP.
Curr Biol. 2005 Dec 20;15(24):2263-70.
PMID 16360688
 
Distinct chromosome segregation roles for spindle checkpoint proteins.
Warren CD, Brady DM, Johnston RC, Hanna JS, Hardwick KG, Spencer FA.
Mol Biol Cell. 2002 Sep;13(9):3029-41.
PMID 12221113
 
Cdk1 phosphorylation of BubR1 controls spindle checkpoint arrest and Plk1-mediated formation of the 3F3/2 epitope.
Wong OK, Fang G.
J Cell Biol. 2007 Nov 19;179(4):611-7. Epub 2007 Nov 12.
PMID 17998400
 

Citation

This paper should be referenced as such :
Bolanos-Garcia, VM ; Blundell, TL
BUB1 (budding uninhibited by benzimidazoles 1 homolog (yeast))
Atlas Genet Cytogenet Oncol Haematol. 2012;16(1):7-11.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BUB1ID853ch2q13.html


External links

Nomenclature
HGNC (Hugo)BUB1   1148
Cards
AtlasBUB1ID853ch2q13
Entrez_Gene (NCBI)BUB1  699  BUB1 mitotic checkpoint serine/threonine kinase
AliasesBUB1A; BUB1L; hBUB1
GeneCards (Weizmann)BUB1
Ensembl hg19 (Hinxton)ENSG00000169679 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169679 [Gene_View]  chr2:110637698-110678107 [Contig_View]  BUB1 [Vega]
ICGC DataPortalENSG00000169679
TCGA cBioPortalBUB1
AceView (NCBI)BUB1
Genatlas (Paris)BUB1
WikiGenes699
SOURCE (Princeton)BUB1
Genetics Home Reference (NIH)BUB1
Genomic and cartography
GoldenPath hg38 (UCSC)BUB1  -     chr2:110637698-110678107 -  2q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BUB1  -     2q13   [Description]    (hg19-Feb_2009)
EnsemblBUB1 - 2q13 [CytoView hg19]  BUB1 - 2q13 [CytoView hg38]
Mapping of homologs : NCBIBUB1 [Mapview hg19]  BUB1 [Mapview hg38]
OMIM602452   
Gene and transcription
Genbank (Entrez)AF011387 AF043294 AF046078 AF047471 AF053305
RefSeq transcript (Entrez)NM_001278616 NM_001278617 NM_004336
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BUB1
Cluster EST : UnigeneHs.469649 [ NCBI ]
CGAP (NCI)Hs.469649
Alternative Splicing GalleryENSG00000169679
Gene ExpressionBUB1 [ NCBI-GEO ]   BUB1 [ EBI - ARRAY_EXPRESS ]   BUB1 [ SEEK ]   BUB1 [ MEM ]
Gene Expression Viewer (FireBrowse)BUB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)699
GTEX Portal (Tissue expression)BUB1
Human Protein AtlasENSG00000169679-BUB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43683   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43683  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43683
Splice isoforms : SwissVarO43683
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusO43683
Domaine pattern : Prosite (Expaxy)BUB1_N (PS51489)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Bub1/Mad3    Kinase-like_dom    Mad3/Bub1_I    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Mad3_BUB1_I (PF08311)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam08311    pfam00069   
Domain families : Smart (EMBL)Mad3_BUB1_I (SM00777)  S_TKc (SM00220)  
Conserved Domain (NCBI)BUB1
DMDM Disease mutations699
Blocks (Seattle)BUB1
PDB (SRS)2LAH    4A1G    4QPM    4R8Q    5DMZ   
PDB (PD@Sum)=/I>2LAH    4A1G    4QPM    4R8Q    5DMZ   
PDB (IMB)2LAH    4A1G    4QPM    4R8Q    5DMZ   
PDB (RSDB)2LAH    4A1G    4QPM    4R8Q    5DMZ   
Structural Biology KnowledgeBase2LAH    4A1G    4QPM    4R8Q    5DMZ   
SCOP (Structural Classification of Proteins)2LAH    4A1G    4QPM    4R8Q    5DMZ   
CATH (Classification of proteins structures)2LAH    4A1G    4QPM    4R8Q    5DMZ   
SuperfamilyO43683
Human Protein Atlas [tissue]ENSG00000169679-BUB1 [tissue]
Peptide AtlasO43683
HPRD03907
IPIIPI00783305   IPI01010603   IPI00916549   IPI00917264   IPI00916864   IPI00916396   
Protein Interaction databases
DIP (DOE-UCLA)O43683
IntAct (EBI)O43683
FunCoupENSG00000169679
BioGRIDBUB1
STRING (EMBL)BUB1
ZODIACBUB1
Ontologies - Pathways
QuickGOO43683
Ontology : AmiGOkinetochore  condensed chromosome kinetochore  condensed nuclear chromosome outer kinetochore  protein kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleoplasm  cytosol  cytosol  protein phosphorylation  apoptotic process  sister chromatid cohesion  regulation of sister chromatid cohesion  mitotic cell cycle checkpoint  mitotic spindle assembly checkpoint  cell proliferation  membrane  viral process  cell division  meiotic sister chromatid cohesion, centromeric  regulation of chromosome segregation  spindle assembly checkpoint  spindle assembly checkpoint  
Ontology : EGO-EBIkinetochore  condensed chromosome kinetochore  condensed nuclear chromosome outer kinetochore  protein kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleoplasm  cytosol  cytosol  protein phosphorylation  apoptotic process  sister chromatid cohesion  regulation of sister chromatid cohesion  mitotic cell cycle checkpoint  mitotic spindle assembly checkpoint  cell proliferation  membrane  viral process  cell division  meiotic sister chromatid cohesion, centromeric  regulation of chromosome segregation  spindle assembly checkpoint  spindle assembly checkpoint  
Pathways : KEGGCell cycle    Oocyte meiosis    Progesterone-mediated oocyte maturation   
REACTOMEO43683 [protein]
REACTOME PathwaysR-HSA-68877 [pathway]   
NDEx NetworkBUB1
Atlas of Cancer Signalling NetworkBUB1
Wikipedia pathwaysBUB1
Orthology - Evolution
OrthoDB699
GeneTree (enSembl)ENSG00000169679
Phylogenetic Trees/Animal Genes : TreeFamBUB1
HOVERGENO43683
HOGENOMO43683
Homologs : HomoloGeneBUB1
Homology/Alignments : Family Browser (UCSC)BUB1
Gene fusions - Rearrangements
Tumor Fusion PortalBUB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBUB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BUB1
dbVarBUB1
ClinVarBUB1
1000_GenomesBUB1 
Exome Variant ServerBUB1
ExAC (Exome Aggregation Consortium)ENSG00000169679
GNOMAD BrowserENSG00000169679
Genetic variants : HAPMAP699
Genomic Variants (DGV)BUB1 [DGVbeta]
DECIPHERBUB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBUB1 
Mutations
ICGC Data PortalBUB1 
TCGA Data PortalBUB1 
Broad Tumor PortalBUB1
OASIS PortalBUB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBUB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBUB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BUB1
DgiDB (Drug Gene Interaction Database)BUB1
DoCM (Curated mutations)BUB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BUB1 (select a term)
intoGenBUB1
NCG5 (London)BUB1
Cancer3DBUB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602452   
Orphanet1351   
DisGeNETBUB1
MedgenBUB1
Genetic Testing Registry BUB1
NextProtO43683 [Medical]
TSGene699
GENETestsBUB1
Target ValidationBUB1
Huge Navigator BUB1 [HugePedia]
snp3D : Map Gene to Disease699
BioCentury BCIQBUB1
ClinGenBUB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD699
Chemical/Pharm GKB GenePA81
Clinical trialBUB1
Miscellaneous
canSAR (ICR)BUB1 (select the gene name)
Probes
Litterature
PubMed117 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBUB1
EVEXBUB1
GoPubMedBUB1
iHOPBUB1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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