BUB1B
entrez
701
canonical
uniprot
O60566
canonical
ensembl
ENSG00000156970
resolver
ensp
ENSP00000287598
resolver
genesymbol
BUB1B
resolver
genesymbol_syn
BUBR1
resolver
genesymbol_syn
MAD3L
resolver
genesymbol_syn
SSK1
resolver
hgnc
HGNC:1149
resolver
uniprot
B2R6U0
resolver
uniprot
B4DL09
resolver
uniprot
B4DLG3
resolver
uniprot
O60501
resolver
uniprot
O60627
resolver
uniprot
O60758
resolver
uniprot
O75389
resolver
uniprot
Q59HH6
resolver
uniprot
Q8WV50
resolver
uniprot
Q96KM4
resolver
uniprot_entry
BUB1B_HUMAN
resolver
uniprot_sec
B2R6U0
resolver
uniprot_sec
B4DL09
resolver
uniprot_sec
B4DLG3
resolver
uniprot_sec
O60501
resolver
uniprot_sec
O60627
resolver
uniprot_sec
O60758
resolver
uniprot_sec
O75389
resolver
uniprot_sec
Q59HH6
resolver
uniprot_sec
Q8WV50
resolver
uniprot_sec
Q96KM4
resolver
activity_regulation
ACTIVITY REGULATION: Kinase activity stimulated by CENPE. {ECO:0000269|PubMed:12925705}.
uniprot
proteins
amino_acid_sequence
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPLDVWDRYISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAEEYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARAPIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLEHRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCKEKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKLQIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAVLKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVTICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLPEEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQSPWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKLFWVAPRNSAELTVIKVSSQPVPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYINCFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVHGDLSPRCLILRNRIHDPYDCNKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLAHLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNANDEATVSVLGELAAEMNGVFDTTFQSHLNKALWKVGKLTSPGALLFQ
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in BUB1B are associated with tumor formation. {ECO:0000269|PubMed:9521327}.; DISEASE: Premature chromatid separation trait (PCS) [MIM:176430]: Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant. {ECO:0000269|PubMed:16411201}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300]: A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269|PubMed:15475955}. Note=The disease is caused by variants affecting the gene represented in this entry. MVA1 is caused by biallelic mutations in the BUB1B gene.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: Kinase which is a component of the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation until all chromosomes are properly attached to the mitotic spindle (PubMed:27509861, PubMed:31201382). The MCC, which consists of CDC20, MAD2L1/MAD2, BUB1B/BUBR1 and BUB3, is a key player of the spindle assembly checkpoint (PubMed:11702782, PubMed:14706340, PubMed:15020684, PubMed:27509861, PubMed:31201382). The MCC-bound APC/C complex is inactive and this delays the metaphase/anaphase transition (PubMed:10477750, PubMed:27509861). When the spindle assembly checkpoint is silenced, the MCC-APC/C complex recruits the E2 enzyme UBCH10 and triggers the auto-ubiquitination of CDC20 in the MCC, thereby reactivating APC/C for transition into anaphase (PubMed:27509861). MCC also monitors kinetochore activities that depend on the kinetochore motor CENPE (PubMed:15020684). Required for kinetochore localization of CENPE (PubMed:15020684). Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification (PubMed:19503101). May play a role for tumor suppression (By similarity). {ECO:0000250|UniProtKB:Q9Z1S0, ECO:0000269|PubMed:10477750, ECO:0000269|PubMed:11702782, ECO:0000269|PubMed:14706340, ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:19411850, ECO:0000269|PubMed:19503101, ECO:0000269|PubMed:27509861, ECO:0000269|PubMed:31201382}.
uniprot
proteins
mass_dalton
119545
uniprot
proteins
mutagenesis
MUTAGEN 159; /note="A->W: Loss of interaction with KNL1."; /evidence="ECO:0000269|PubMed:17981135"; MUTAGEN 175; /note="F->A: Loss of interaction with KNL1."; /evidence="ECO:0000269|PubMed:17981135"; MUTAGEN 579; /note="D->E: Abolishes the cleavage by caspase-3."; /evidence="ECO:0000269|PubMed:16227576"; MUTAGEN 610; /note="D->E: Abolishes the cleavage by caspase-3."; /evidence="ECO:0000269|PubMed:16227576"; MUTAGEN 620; /note="T->A: Induces chromosome congression defects and mitotic delay."; /evidence="ECO:0000269|PubMed:17785528"; MUTAGEN 795; /note="K->A: Does not abolish the capacity to inhibit APC/CDC20."; /evidence="ECO:0000269|PubMed:11702782, ECO:0000269|PubMed:12925705"; MUTAGEN 795; /note="K->R: Inhibits kinase activity."; /evidence="ECO:0000269|PubMed:11702782, ECO:0000269|PubMed:12925705
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved by caspase-3 in a cell cycle specific manner. The cleavage might be involved in the durability of the cell cycle delay. Caspase-3 cleavage is associated with abrogation of the mitotic checkpoint. The major site of cleavage is at Asp-610. {ECO:0000269|PubMed:16227576}.; PTM: Acetylation at Lys-250 regulates its degradation and timing in anaphase entry. {ECO:0000269|PubMed:19407811}.; PTM: Ubiquitinated. Degraded by the proteasome (PubMed:19407811). Ubiquitinated by UBR5, promoting disassembly of the mitotic checkpoint complex from the APC/C complex (PubMed:35217622). {ECO:0000269|PubMed:19407811, ECO:0000269|PubMed:35217622}.; PTM: Sumoylated with SUMO2 and SUMO3. The sumoylation mediates the association with CENPE at the kinetochore. {ECO:0000269|PubMed:18374647}.; PTM: Autophosphorylated in vitro. Intramolecular autophosphorylation is stimulated by CENPE. Phosphorylated during mitosis and hyperphosphorylated in mitotically arrested cells. Phosphorylation at Ser-670 and Ser-1043 occurs at kinetochores upon mitotic entry with dephosphorylation at the onset of anaphase. {ECO:0000269|PubMed:10477750, ECO:0000269|PubMed:10593653, ECO:0000269|PubMed:17376779, ECO:0000269|PubMed:17785528, ECO:0000269|PubMed:19015317}.
uniprot
proteins
protein_family
BUB1 subfamily
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
Ser/Thr protein kinase family
uniprot
proteins
pubmed
10366450
uniprot
proteins
pubmed
10477750
uniprot
proteins
pubmed
10593653
uniprot
proteins
pubmed
11702782
uniprot
proteins
pubmed
12925705
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14706340
uniprot
proteins
pubmed
15020684
uniprot
proteins
pubmed
15475955
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16227576
uniprot
proteins
pubmed
16411201
uniprot
proteins
pubmed
16760428
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
17376779
uniprot
proteins
pubmed
17785528
uniprot
proteins
pubmed
17981135
uniprot
proteins
pubmed
18374647
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19015317
uniprot
proteins
pubmed
19407811
uniprot
proteins
pubmed
19411850
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19503101
uniprot
proteins
pubmed
19625775
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27509861
uniprot
proteins
pubmed
29162720
uniprot
proteins
pubmed
29883609
uniprot
proteins
pubmed
31201382
uniprot
proteins
pubmed
33094908
uniprot
proteins
pubmed
35217622
uniprot
proteins
pubmed
9521327
uniprot
proteins
pubmed
9618306
uniprot
proteins
pubmed
9660858
uniprot
proteins
pubmed
9763420
uniprot
proteins
pubmed
9889005
uniprot
proteins
sequence_length
1050
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14706340, ECO:0000269|PubMed:9763420}. Nucleus {ECO:0000305|PubMed:10477750, ECO:0000305|PubMed:14706340, ECO:0000305|PubMed:16760428, ECO:0000305|PubMed:17376779, ECO:0000305|PubMed:17785528, ECO:0000305|PubMed:9763420}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:10477750, ECO:0000269|PubMed:14706340, ECO:0000269|PubMed:16760428, ECO:0000269|PubMed:17376779, ECO:0000269|PubMed:17785528, ECO:0000269|PubMed:9763420}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Cytoplasmic in interphase cells. Associates with the kinetochores in early prophase. Kinetochore localization requires BUB1, PLK1 and KNL1. {ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:17785528, ECO:0000269|PubMed:17981135}.
uniprot
proteins