BUB1 (BUB1 mitotic checkpoint serine/threonine kinase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
699
Gene name Gene Name - the full gene name approved by the HGNC.
BUB1 mitotic checkpoint serine/threonine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BUB1
Synonyms (NCBI Gene) Gene synonyms aliases
BUB1A, BUB1L, MCPH30, hBUB1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a ro
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs587776642 A>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs794729661 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(197)
miRTarBase ID miRNA Experiments Reference
MIRT007183 hsa-miR-450a-1-3p qRT-PCR, Western blot 23110129
MIRT048279 hsa-miR-196a-5p CLASH 23622248
MIRT045266 hsa-miR-186-5p CLASH 23622248
MIRT042691 hsa-miR-196b-5p CLASH 23622248
MIRT053536 hsa-miR-10b-3p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23125021
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(39)
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 15020684, 16760428, 17227893, 19465021, 22331848
GO:0000776 Component Kinetochore IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602452 1148 ENSG00000169679
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43683
Protein name Mitotic checkpoint serine/threonine-protein kinase BUB1 (hBUB1) (EC 2.7.11.1) (BUB1A)
Protein function Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kineto
PDB 2LAH , 4A1G , 4QPM , 4R8Q , 5DMZ , 6F7B , 7B1F , 7B1H , 7B1J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08311 Mad3_BUB1_I 6 → 126 Mad3/BUB1 homology region 1 Domain
PF00069 Pkinase 787 → 1032 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: High expression in testis and thymus, less in colon, spleen, lung and small intestine. Expressed in fetal thymus, bone marrow, heart, liver, spleen and thymus. Expression is associated with cells/tissues with a high mitotic index.
Sequence 
MDTPENVLQMLEAHMQSYKGNDPLGEWERYIQWVEENFPENKEYLITLLEHLMKEFLDKK
KYHNDPRFISYCLKFAEYNSDLHQFFEFLYNHGIGTLSSPLYIAWAGHLEAQGELQHASA
VLQRGIQNQAEPREFLQQQYRLFQTRLTETHLPAQARTSEPLHNVQVLNQMITSKSNPGN
NMACISKNQGSELSGVISSACDKESNMERRVITISKSEYSVHSSLASKVDVEQVVMYCKE
KLIRGESEFSFEELRAQKYNQRRKHEQWVNEDRHYMKRKEANAFEEQLLKQKMDELHKKL
HQVVETSHEDLPASQERSEVNPARMGPSVGSQQELRAPCLPVTYQQTPVNMEKNPREAPP
VVPPLANAISAALVSPATSQSIAPPVPLKAQTVTDSMFAVASKDAGCVNKSTHEFKPQSG
AEIKEGCETHKVANTSSFHTTPNTSLGMVQATPSKVQPSPTVHTKEALGFIMNMFQAPTL
PDISDDKDEWQSLDQNEDAFEAQFQKNVRSSGAWGVNKIISSLSSAFHVFEDGNKENYGL
PQPKNKPTGARTFGERSVSRLPSKPKEEVPHAEEFLDDSTVWGIRCNKTLAPSPKSPGDF
TSAAQLASTPFHKLPVESVHILEDKENVVAKQCTQATLDSCEENMVVPSRDGKFSPIQEK
SPKQALSSHMYSASLLRLSQPAAGGVLTCEAELGVEACRLTDTDAAIAEDPPDAIAGLQA
EWMQMSSLGTVDAPNFIVGNPWDDKLIFKLLSGLSKPVSSYPNTFEWQCKLPAIKPKTEF
QLGSKLVYVHHLLGEGAFAQVYEATQGDLNDAKNKQKFVLKVQKPANPWEFYIGTQLMER
LKPSMQHMFMKFYSAHLFQNGSVLVGELYSYGTLLNAINLYKNTPEKVMPQGLVISFAMR
MLYMIEQVHDCEIIHGDIKPDNFILGNGFLEQDDEDDLSAGLALIDLGQSIDMKLFPKGT
IFTAKCETSGFQCVEMLSNKPWNYQIDYFGVAATVYCMLFGTYMKVKNEGGECKPEGLFR
RLPHLDMWNEFFHVMLNIPDCHHLPSLDLLRQKLKKVFQQHYTNKIRALRNRLIVLLLEC
KRSRK
Sequence length 1085
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cell cycle
Oocyte meiosis
Progesterone-mediated oocyte maturation 		  Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
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 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
colorectal cancer Colorectal cancer with chromosomal instability, somatic rs794729661, rs121909055 N/A
Show/Hide Unknown Diseases (3)
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
Microcephaly microcephaly 30, primary, autosomal recessive N/A N/A GenCC
Mosaic Variegated Aneuploidy mosaic variegated aneuploidy syndrome N/A N/A GenCC
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (74)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 26349752
Adenocarcinoma of Lung Associate 32121037, 33148251, 34039308, 34304612, 35068350, 36787437, 36825773, 37228122
Adrenocortical Carcinoma Associate 32147961, 32923148, 38053725
Aneuploidy Associate 17620410, 23440991, 26608463, 29448935, 35044816, 40069598
Autism Spectrum Disorder Associate 24650168, 28254236
Autosomal Recessive Primary Microcephaly Associate 35044816
Azoospermia Associate 35219767
Breast Neoplasms Associate 23288590, 24711138, 25999348, 26287798, 33285689, 35447458, 35456460, 35493295, 36930083, 40183319
Carcinogenesis Associate 28901457
Carcinoma Hepatocellular Associate 28901457, 29728556, 29843214, 30272310, 31737652, 34257549, 34603487, 34696748, 35493295, 36317111, 40069598