BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
701
Gene name Gene Name - the full gene name approved by the HGNC.
BUB1 mitotic checkpoint serine/threonine kinase B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BUB1B
Synonyms (NCBI Gene) Gene synonyms aliases
BUB1beta, BUBR1, Bub1A, MAD3L, MVA1, SSK1, hBUBR1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.1
Summary Summary of gene provided in NCBI Entrez 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 prope
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs56079734 C>T Pathogenic, benign Missense variant, coding sequence variant
rs769350713 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
miRTarBase ID miRNA Experiments Reference
MIRT016386 hsa-miR-193b-3p Microarray 20304954
MIRT024609 hsa-miR-215-5p Microarray 19074876
MIRT026320 hsa-miR-192-5p Microarray 19074876
MIRT050455 hsa-miR-22-3p CLASH 23622248
MIRT016386 hsa-miR-193b-3p CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ZNF143 Activation 17478512
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IBA
GO:0000776 Component Kinetochore IDA 12925705, 17363900
GO:0000776 Component Kinetochore IDA 9660858, 9763420, 17227893, 19465021, 20220147, 22331848
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602860 1149 ENSG00000156970
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O60566
Protein name Mitotic checkpoint serine/threonine-protein kinase BUB1 beta (EC 2.7.11.1) (MAD3/BUB1-related protein kinase) (hBUBR1) (Mitotic checkpoint kinase MAD3L) (Protein SSK1)
Protein 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
PDB 2WVI , 3SI5 , 4GGD , 5JJA , 5K6S , 5KHU , 5LCW , 5SWF , 6TLJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08311 Mad3_BUB1_I 57 → 179 Mad3/BUB1 homology region 1 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in thymus followed by spleen. Preferentially expressed in tissues with a high mitotic index. {ECO:0000269|PubMed:10593653}.
Sequence 
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKR
AFEYEIRFYTGNDPLDVWDRYISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPR
FLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAEEYEARENFRKADAIFQEGIQ
QKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA
PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPM
PRAKENELQAGPWNTGRSLEHRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEP
SINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCKEKIYAGVGEFSFEEIRAEVF
RKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKL
QIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKK
NKSPPADPPRVLAQRRPLAVLKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVT
ICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLPEEDLDVKTSEDQQTACGTIY
SQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQS
PWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKL
FWVAPRNSAELTVIKVSSQPVPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYIN
CFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVHGDLSPRCLILRNRIHDPYDC
NKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLA
HLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNANDEATVSVLGELAAEMN
GVFDTTFQSHLNKALWKVGKLTSPGALLFQ
Sequence length 1050
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cell cycle
Human T-cell leukemia virus 1 infection 		  Inactivation of APC/C via direct inhibition of the APC/C complex
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
APC/C:Cdc20 mediated degradation of mitotic proteins
APC-Cdc20 mediated degradation of Nek2A
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mosaic Variegated Aneuploidy mosaic variegated aneuploidy syndrome 1 rs1566824608, rs1401171363, rs1566830754, rs1595533765, rs2037151440, rs28989186, rs992789522, rs1392909108, rs2037346846, rs750364303, rs2037350060, rs769350713, rs767213728, rs759242053 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
colorectal cancer Colorectal cancer N/A N/A ClinVar
Hepatocellular Carcinoma Hepatocellular carcinoma Overlapping CRISPR screens and HCC expression microarray data, we found 13 clinically relevant targets that are essential for HCC tumor cell growth and were significantly up-regulated in HCC tumors 31022357 CBGDA
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (76)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 34252262
Adenocarcinoma of Lung Associate 32121037, 33126397, 33148251, 34039308, 34304612, 36451444, 37228122, 40076684
Adenocarcinoma of Lung Stimulate 35068350
Aneuploidy Associate 15475955, 17322345, 18699967, 20132214, 20516114, 21190457, 24156017, 25789401, 26354767, 26608463, 35804254
Aural Atresia Congenital Associate 33431813
Breast Neoplasms Associate 23392733, 23497539, 26191236, 27165245, 31285741, 31895772, 33285689, 33499770, 34384030, 35456460, 35493295
Carcinogenesis Associate 17322345, 24156017
Carcinoma Adenoid Cystic Associate 37861550
Carcinoma Hepatocellular Associate 22997493, 29728556, 29843214, 31737652, 31822116, 32627011, 32715976, 32769939, 34257537, 34603487, 34961841, 35493295, 36002253, 36317111, 36553600
View all (1 more)
Carcinoma Hepatocellular Stimulate 30363964