BUB1
entrez
699
canonical
uniprot
O43683
canonical
ensembl
ENSG00000169679
resolver
ensp
ENSP00000302530
resolver
ensp
ENSP00000386701
resolver
ensp
ENSP00000441013
resolver
genesymbol
BUB1
resolver
genesymbol_syn
BUB1L
resolver
hgnc
HGNC:1148
resolver
uniprot
B4DYG2
resolver
uniprot
E9PC26
resolver
uniprot
F5GXI5
resolver
uniprot
O43430
resolver
uniprot
O43643
resolver
uniprot
O60626
resolver
uniprot
Q53QE4
resolver
uniprot_entry
B4DYG2_HUMAN
resolver
uniprot_entry
BUB1_HUMAN
resolver
uniprot_sec
E9PC26
resolver
uniprot_sec
F5GXI5
resolver
uniprot_sec
O43430
resolver
uniprot_sec
O43643
resolver
uniprot_sec
O60626
resolver
uniprot_sec
Q53QE4
resolver
activity_regulation
ACTIVITY REGULATION: Autophosphorylated when the cells enters mitosis.
uniprot
proteins
amino_acid_sequence
MDTPENVLQMLEAHMQSYKGNDPLGEWERYIQWVEENFPENKEYLITLLEHLMKEFLDKKKYHNDPRFISYCLKFAEYNSDLHQFFEFLYNHGIGTLSSPLYIAWAGHLEAQGELQHASAVLQRGIQNQAEPREFLQQQYRLFQTRLTETHLPAQARTSEPLHNVQVLNQMITSKSNPGNNMACISKNQGSELSGVISSACDKESNMERRVITISKSEYSVHSSLASKVDVEQVVMYCKEKLIRGESEFSFEELRAQKYNQRRKHEQWVNEDRHYMKRKEANAFEEQLLKQKMDELHKKLHQVVETSHEDLPASQERSEVNPARMGPSVGSQQELRAPCLPVTYQQTPVNMEKNPREAPPVVPPLANAISAALVSPATSQSIAPPVPLKAQTVTDSMFAVASKDAGCVNKSTHEFKPQSGAEIKEGCETHKVANTSSFHTTPNTSLGMVQATPSKVQPSPTVHTKEALGFIMNMFQAPTLPDISDDKDEWQSLDQNEDAFEAQFQKNVRSSGAWGVNKIISSLSSAFHVFEDGNKENYGLPQPKNKPTGARTFGERSVSRLPSKPKEEVPHAEEFLDDSTVWGIRCNKTLAPSPKSPGDFTSAAQLASTPFHKLPVESVHILEDKENVVAKQCTQATLDSCEENMVVPSRDGKFSPIQEKSPKQALSSHMYSASLLRLSQPAAGGVLTCEAELGVEACRLTDTDAAIAEDPPDAIAGLQAEWMQMSSLGTVDAPNFIVGNPWDDKLIFKLLSGLSKPVSSYPNTFEWQCKLPAIKPKTEFQLGSKLVYVHHLLGEGAFAQVYEATQGDLNDAKNKQKFVLKVQKPANPWEFYIGTQLMERLKPSMQHMFMKFYSAHLFQNGSVLVGELYSYGTLLNAINLYKNTPEKVMPQGLVISFAMRMLYMIEQVHDCEIIHGDIKPDNFILGNGFLEQDDEDDLSAGLALIDLGQSIDMKLFPKGTIFTAKCETSGFQCVEMLSNKPWNYQIDYFGVAATVYCMLFGTYMKVKNEGGECKPEGLFRRLPHLDMWNEFFHVMLNIPDCHHLPSLDLLRQKLKKVFQQHYTNKIRALRNRLIVLLLECKRSRK
uniprot
proteins
disease_involvement
DISEASE: Microcephaly 30, primary, autosomal recessive (MCPH30) [MIM:620183]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH30 is characterized by small head, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals may also have variable congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth. {ECO:0000269|PubMed:35044816}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
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 kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Required for centromeric enrichment of AUKRB in prometaphase. Plays an important role in defining SGO1 localization and thereby affects sister chromatid cohesion. Promotes the centromeric localization of TOP2A (PubMed:35044816). Acts as a substrate for anaphase-promoting complex or cyclosome (APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of APC/C when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. This complex can also phosphorylate MAD1L1. Kinase activity is essential for inhibition of APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous tumorigenesis. {ECO:0000269|PubMed:10198256, ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:15525512, ECO:0000269|PubMed:15723797, ECO:0000269|PubMed:16760428, ECO:0000269|PubMed:17158872, ECO:0000269|PubMed:19487456, ECO:0000269|PubMed:20739936, ECO:0000269|PubMed:35044816}.
uniprot
proteins
mass_dalton
122375
uniprot
proteins
mutagenesis
MUTAGEN 106; /note="A->D,W: Loss of interaction with KNL1."; /evidence="ECO:0000269|PubMed:17981135"; MUTAGEN 122; /note="L->G: Loss of interaction with KNL1."; /evidence="ECO:0000269|PubMed:17981135"; MUTAGEN 130; /note="A->S: Partial rescue of the spindle-assembly checkpoint activity. Increased rate of chromosome congression errors. Impaired localization to kinetochores and loss of kinetochore binding of CENPF, SGO1 and BUBR1 but not of MCAK, MAD1L1 or MAD2L1."; /evidence="ECO:0000269|PubMed:19487456"; MUTAGEN 535; /note="K->A: Loss of ubiquitination and CDH1-dependent degradation; when associated with A-536 and A-537."; /evidence="ECO:0000269|PubMed:17158872"; MUTAGEN 536; /note="E->A: Loss of ubiquitination and CDH1-dependent degradation; when associated with A-535 and A-537."; /evidence="ECO:0000269|PubMed:17158872"; MUTAGEN 537; /note="N->A: Loss of ubiquitination and CDH1-dependent degradation; when associated with A-535 and A-536."; /evidence="ECO:0000269|PubMed:17158872"; MUTAGEN 609; /note="T->A: Diminished interaction with PLK1."; /evidence="ECO:0000269|PubMed:16760428"; MUTAGEN 625; /note="K->A: Loss of ubiquitination and CDH1-dependent degradation; when associated with A-626 and A-627."; /evidence="ECO:0000269|PubMed:17158872"; MUTAGEN 626; /note="E->A: Loss of ubiquitination and CDH1-dependent degradation; when associated with A-625 and A-627."; /evidence="ECO:0000269|PubMed:17158872"; MUTAGEN 627; /note="N->A: Loss of ubiquitination and CDH1-dependent degradation; when associated with A-625 and A-626."; /evidence="ECO:0000269|PubMed:17158872"; MUTAGEN 821; /note="K->A: Loss of activity."; /evidence="ECO:0000269|PubMed:10198256
uniprot
proteins
post_translational_modification
PTM: Upon spindle-assembly checkpoint activation it is hyperphosphorylated and its kinase activity toward CDC20 is stimulated. Phosphorylation at Thr-609 is required for interaction with PLK1, phosphorylation at this site probably creates a binding site for the POLO-box domain of PLK1, thus enhancing the PLK1-BUB1 interaction. {ECO:0000269|PubMed:10198256, ECO:0000269|PubMed:15525512, ECO:0000269|PubMed:16760428}.; PTM: Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1. {ECO:0000269|PubMed:17158872}.
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
10198256
uniprot
proteins
pubmed
10366450
uniprot
proteins
pubmed
12655561
uniprot
proteins
pubmed
15020684
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15525512
uniprot
proteins
pubmed
15723797
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16760428
uniprot
proteins
pubmed
17158872
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17981135
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18922873
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19487456
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20739936
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26223641
uniprot
proteins
pubmed
35044816
uniprot
proteins
pubmed
9441741
uniprot
proteins
pubmed
9521327
uniprot
proteins
pubmed
9660858
uniprot
proteins
pubmed
9790499
uniprot
proteins
sequence_length
1085
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:15020684, ECO:0000305|PubMed:16760428}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:16760428}. Note=Nuclear in interphase cells. Accumulates gradually during G1 and S phase of the cell cycle, peaks at G2/M, and drops dramatically after mitosis. Localizes to the outer kinetochore. Kinetochore localization is required for normal mitotic timing and checkpoint response to spindle damage and occurs very early in prophase. AURKB, KNL1 and INCENP are required for kinetochore localization. {ECO:0000269|PubMed:16760428, ECO:0000269|PubMed:17981135}.
uniprot
proteins