• Gene id: 699

Gene Summary

• Gene Symbol: BUB1   Gene   UCSC   Ensembl
• Aliases: BUB1A, BUB1L, hBUB1
• Gene name: BUB1 mitotic checkpoint serine/threonine kinase
• Alternate names: mitotic checkpoint serine/threonine-protein kinase BUB1, BUB1 budding uninhibited by benzimidazoles 1 homolog, budding uninhibited by benzimidazoles 1 homolog, mitotic spindle checkpoint kinase, putative serine/threonine-protein kinase,
• Gene location: 2q13 (115976512: 116070053)     Exons: 15     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 602452

SNPs

rs1237691411

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.101737863A>G
NC_000012.11   g.102131641A>G
NG_021181.1   g.6607T>C
NM_153694.4   c.73T>C
NM_001177949.2   c.73T>C
NM_001177949.1   c.73T>C
NM_001177948.1   c.73T>C
XM_005268922.5   c.313T>C
XM_005268922.1   c.313T>C
XM_005268926.4   c.73T>C
XM_005268926  

Protein Summary

• Protein general information: O43683  
  • Name: Mitotic checkpoint serine/threonine protein kinase BUB1 (hBUB1) (EC 2.7.11.1) (BUB1A)
  • Length: 1085  
  • Mass: 122375
  • 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:

  MDTPENVLQMLEAHMQSYKGNDPLGEWERYIQWVEENFPENKEYLITLLEHLMKEFLDKKKYHNDPRFISYCLKF
  AEYNSDLHQFFEFLYNHGIGTLSSPLYIAWAGHLEAQGELQHASAVLQRGIQNQAEPREFLQQQYRLFQTRLTET
  HLPAQARTSEPLHNVQVLNQMITSKSNPGNNMACISKNQGSELSGVISSACDKESNMERRVITISKSEYSVHSSL
  ASKVDVEQVVMYCKEKLIRGESEFSFEELRAQKYNQRRKHEQWVNEDRHYMKRKEANAFEEQLLKQKMDELHKKL
  HQVVETSHEDLPASQERSEVNPARMGPSVGSQQELRAPCLPVTYQQTPVNMEKNPREAPPVVPPLANAISAALVS
  PATSQSIAPPVPLKAQTVTDSMFAVASKDAGCVNKSTHEFKPQSGAEIKEGCETHKVANTSSFHTTPNTSLGMVQ
  ATPSKVQPSPTVHTKEALGFIMNMFQAPTLPDISDDKDEWQSLDQNEDAFEAQFQKNVRSSGAWGVNKIISSLSS
  AFHVFEDGNKENYGLPQPKNKPTGARTFGERSVSRLPSKPKEEVPHAEEFLDDSTVWGIRCNKTLAPSPKSPGDF
  TSAAQLASTPFHKLPVESVHILEDKENVVAKQCTQATLDSCEENMVVPSRDGKFSPIQEKSPKQALSSHMYSASL
  LRLSQPAAGGVLTCEAELGVEACRLTDTDAAIAEDPPDAIAGLQAEWMQMSSLGTVDAPNFIVGNPWDDKLIFKL
  LSGLSKPVSSYPNTFEWQCKLPAIKPKTEFQLGSKLVYVHHLLGEGAFAQVYEATQGDLNDAKNKQKFVLKVQKP
  ANPWEFYIGTQLMERLKPSMQHMFMKFYSAHLFQNGSVLVGELYSYGTLLNAINLYKNTPEKVMPQGLVISFAMR
  MLYMIEQVHDCEIIHGDIKPDNFILGNGFLEQDDEDDLSAGLALIDLGQSIDMKLFPKGTIFTAKCETSGFQCVE
  MLSNKPWNYQIDYFGVAATVYCMLFGTYMKVKNEGGECKPEGLFRRLPHLDMWNEFFHVMLNIPDCHHLPSLDLL
  RQKLKKVFQQHYTNKIRALRNRLIVLLLECKRSRK

• Structural information:
  • Protein Domains: (11..18-)
    (/note="BUB1-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00822-)
    (787..108-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR015661  IPR011009  IPR013212  IPR000719  IPR017441   IPR008271  
  • Prosite: PS51489 PS00107 PS50011 PS00108
  • PDB: 2LAH 4A1G 4QPM 4R8Q 5DMZ 6F7B
  • PDBsum: 2LAH 4A1G 4QPM 4R8Q 5DMZ 6F7B
  • DIP: 24206
  • STRING: ENSP00000302530
• Other Databases: GeneCards:  BUB1  Malacards:  BUB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000942	condensed nuclear chromosome outer kinetochore	IDA	cellular component
GO:0000778	condensed nuclear chromosome kinetochore	IBA	cellular component
GO:0004672	protein kinase activity	IBA	molecular function
GO:0007094	mitotic spindle assembly checkpoint	IBA	biological process
GO:0051754	meiotic sister chromatid cohesion, centromeric	IBA	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0007063	regulation of sister chromatid cohesion	IDA	biological process
GO:0051983	regulation of chromosome segregation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007094	mitotic spindle assembly checkpoint	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0007059	chromosome segregation	IEA	biological process
GO:0004672	protein kinase activity	TAS	molecular function
GO:0007094	mitotic spindle assembly checkpoint	TAS	biological process
GO:0007093	mitotic cell cycle checkpoint	TAS	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008283	cell population proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000777	condensed chromosome kinetochore	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04110	Cell cycle
hsa04114	Oocyte meiosis
hsa04914	Progesterone-mediated oocyte maturation

Diseases

Associated diseases	References
colorectal cancer	PMID:9521327
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R