• Gene id: 701

Gene Summary

• Gene Symbol: BUB1B   Gene   UCSC   Ensembl
• Aliases: BUB1beta, BUBR1, Bub1A, MAD3L, MVA1, SSK1, hBUBR1
• Gene name: BUB1 mitotic checkpoint serine/threonine kinase B
• Alternate names: mitotic checkpoint serine/threonine-protein kinase BUB1 beta, BUB1B, mitotic checkpoint serine/threonine kinase, MAD3/BUB1-related protein kinase, budding uninhibited by benzimidazoles 1 homolog beta, mitotic checkpoint kinase MAD3L,
• Gene location: 15q15.1 (11355417: 11365697)     Exons: 10     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 602860

SNPs

rs397515563

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

NC_000009.12   g.34517468G>A
NC_000009.11   g.34517466G>A
NG_008127.1   g.63656G>A|SEQ=[G/A]|GENE=DNAI1

rs397515363

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.34459055dup
NC_000009.11   g.34459053dup
NG_008127.1   g.5243dup
NG_027971.1   g.4516dup|SEQ=[T/TT]|GENE=DNAI1
FAM219A   203259

rs397515358

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

NC_000017.11   g.74286974T>G
NC_000017.10   g.72283113T>G
NG_016865.1   g.17728T>G|SEQ=[T/G]|GENE=DNAI2

rs376252276

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

NC_000009.12   g.34513112G>A
NC_000009.12   g.34513112G>C
NC_000009.12   g.34513112G>T
NC_000009.11   g.34513110G>A
NC_000009.11   g.34513110G>C
NC_000009.11   g.34513110G>T
NG_008127.1   g.59300G>A
NG_008127.1   g.59300G>C
NG_008127.1   g.59300G>T
NM_012144.4   c.1490G

rs200693106

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

NC_000007.14   g.21702773C>A
NC_000007.14   g.21702773C>T
NC_000007.13   g.21742391C>A
NC_000007.13   g.21742391C>T
NG_012886.2   g.164559C>A
NG_012886.2   g.164559C>T
NM_001277115.2   c.6244C>A
NM_001277115.2   c.6244C>T
NM_001277115.1   c.6244C>A
NM_001277115.1   c.62

rs121908855

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

NC_000007.14   g.21880869C>G
NC_000007.13   g.21920487C>G
NG_012886.2   g.342655C>G
NM_001277115.2   c.12363C>G
NM_001277115.1   c.12363C>G
NP_001264044.1   p.Tyr4121Ter|SEQ=[C/G]|GENE=DNAH11

rs121908854

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

NC_000007.14   g.21748602C>A
NC_000007.14   g.21748602C>G
NC_000007.14   g.21748602C>T
NC_000007.13   g.21788220C>A
NC_000007.13   g.21788220C>G
NC_000007.13   g.21788220C>T
NG_012886.2   g.210388C>A
NG_012886.2   g.210388C>G
NG_012886.2   g.210388C>T
NM_001277115.2   c

rs1713449

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

NC_000014.9   g.20373548C>T
NC_000014.8   g.20841707C>T
XM_005268027.5   c.6640G>A
XM_005268027.1   c.6640G>A
NM_007110.5   c.6640G>A
NM_007110.4   c.6640G>A
XR_245720.3   n.6666G>A
XR_245720.1   n.7298G>A
XM_011537110.2   c.5071G>A
XR_001750531.1   n.6828G>A
NM_0013190  

rs1713419

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

NC_000014.9   g.20366389A>G
NC_000014.8   g.20834548A>G
XM_005268027.5   c.*2048T>C
NM_007110.5   c.*2048T>C
NM_007110.4   c.*2048T>C
XR_245720.3   n.9958T>C
XM_011537110.2   c.*2048T>C
XR_001750531.1   n.9995T>C
NM_001319035.1   c.*2048T>C
NM_001319035.2   c.*2048T>C|S

rs2736100

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

NC_000005.10   g.1286401C>A
NC_000005.9   g.1286516C>A
NG_009265.1   g.13647G>T
NG_055468.1   g.28C>A|SEQ=[C/A]|GENE=TERT

Protein Summary

• Protein general information: O60566  
  • 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)
  • Length: 1050  
  • Mass: 119545
  • Tissue specificity: Highly expressed in thymus followed by spleen. Preferentially expressed in tissues with a high mitotic index. {ECO
• Sequence:

  MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPL
  DVWDRYISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVS
  LAQFYISWAEEYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRS
  TLAELKSKGKKTARAPIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPM
  PRAKENELQAGPWNTGRSLEHRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEE
  GDPLQRVQSHQQASEEKKEKMMYCKEKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEME
  KKLKEIQTTQQERTGDQQEETMPTKETTKLQIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPS
  VPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAVLKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVT
  ICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLPEEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIED
  SREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQSPWCSQYRRQLLKSLPELSASAELCIEDRPM
  PKLEIEKEIELGNEDYCIKREYLICEDYKLFWVAPRNSAELTVIKVSSQPVPWDFYINLKLKERLNEDFDHFCSC
  YQYQDGCIVWHQYINCFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVHGDLSPRCLILRNRIHDPYDC
  NKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLAHLLLFKEHLQVFWDG
  SFWKLSQNISELKDGELWNKFFVRILNANDEATVSVLGELAAEMNGVFDTTFQSHLNKALWKVGKLTSPGALLFQ

• Structural information:
  • Protein Domains: (62..22-)
    (/note="BUB1-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00822-)
    (766..105-)
    (/note="Protein-kinase")
  • Interpro: IPR015661  IPR011009  IPR013212  
  • Prosite: PS51489
  • PDB: 2WVI 3SI5 4GGD 5JJA 5K6S 5KHU 5LCW 5SWF
  • PDBsum: 2WVI 3SI5 4GGD 5JJA 5K6S 5KHU 5LCW 5SWF
  • DIP: 24203
  • STRING: ENSP00000287598
• Other Databases: GeneCards:  BUB1B  Malacards:  BUB1B

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0000940	condensed chromosome outer kinetochore	IDA	cellular component
GO:0000776	kinetochore	IDA	colocalizes with
GO:0000776	kinetochore	IDA	colocalizes with
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:0007094	mitotic spindle assembly checkpoint	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0005680	anaphase-promoting complex	TAS	cellular component
GO:0000278	mitotic cell cycle	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:0031145	anaphase-promoting complex-dependent catabolic process	TAS	biological process
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: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:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:1901990	regulation of mitotic cell cycle phase transition	TAS	biological process
GO:0005737	cytoplasm	IDA	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: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: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:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0000777	condensed chromosome kinetochore	IDA	cellular component
GO:0000278	mitotic cell cycle	NAS	biological process
GO:0004672	protein kinase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection
hsa04110	Cell cycle

Diseases

Associated diseases	References
Mosaic variegated aneuploidy syndrome	KEGG:H01288
Mosaic variegated aneuploidy syndrome	KEGG:H01288
pancreatic cancer	PMID:17242465
gallbladder cancer	PMID:18497548
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 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