BUB1B
Mitotic checkpoint serine/threonine-protein kinase BUB1 beta
Also known as: Bub1A, BUB1B_HUMAN, BUBR1, MAD3L, SSK1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60566
- Gene
- BUB1B
- Ensembl
- ENSG00000156970
- Chromosome
- 15
- Canonical length
- 1050 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Basal body,Cytosol
OverviewNCBI Gene
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 proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1050 residues, UniProt reviewed canonical sequence.
>O60566|BUB1B
1 MAAVKKEGGA LSEAMSLEGD EWELSKENVQ PLRQGRIMST LQGALAQESA CNNTLQQQKR
61 AFEYEIRFYT GNDPLDVWDR YISWTEQNYP QGGKESNMST LLERAVEALQ GEKRYYSDPR
121 FLNLWLKLGR LCNEPLDMYS YLHNQGIGVS LAQFYISWAE EYEARENFRK ADAIFQEGIQ
181 QKAEPLERLQ SQHRQFQARV SRQTLLALEK EEEEEVFESS VPQRSTLAEL KSKGKKTARA
241 PIIRVGGALK APSQNRGLQN PFPQQMQNNS RITVFDENAD EASTAELSKP TVQPWIAPPM
301 PRAKENELQA GPWNTGRSLE HRPRGNTASL IAVPAVLPSF TPYVEETARQ PVMTPCKIEP
361 SINHILSTRK PGKEEGDPLQ RVQSHQQASE EKKEKMMYCK EKIYAGVGEF SFEEIRAEVF
421 RKKLKEQREA ELLTSAEKRA EMQKQIEEME KKLKEIQTTQ QERTGDQQEE TMPTKETTKL
481 QIASESQKIP GMTLSSSVCQ VNCCARETSL AENIWQEQPH SKGPSVPFSI FDEFLLSEKK
541 NKSPPADPPR VLAQRRPLAV LKTSESITSN EDVSPDVCDE FTGIEPLSED AIITGFRNVT
601 ICPNPEDTCD FARAARFVST PFHEIMSLKD LPSDPERLLP EEDLDVKTSE DQQTACGTIY
661 SQTLSIKKLS PIIEDSREAT HSSGFSGSSA SVASTSSIKC LQIPEKLELT NETSENPTQS
721 PWCSQYRRQL LKSLPELSAS AELCIEDRPM PKLEIEKEIE LGNEDYCIKR EYLICEDYKL
781 FWVAPRNSAE LTVIKVSSQP VPWDFYINLK LKERLNEDFD HFCSCYQYQD GCIVWHQYIN
841 CFTLQDLLQH SEYITHEITV LIIYNLLTIV EMLHKAEIVH GDLSPRCLIL RNRIHDPYDC
901 NKNNQALKIV DFSYSVDLRV QLDVFTLSGF RTVQILEGQK ILANCSSPYQ VDLFGIADLA
961 HLLLFKEHLQ VFWDGSFWKL SQNISELKDG ELWNKFFVRI LNANDEATVS VLGELAAEMN
1021 GVFDTTFQSH LNKALWKVGK LTSPGALLFQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BUB1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- thymus: 33 nTPM
- testis: 21 nTPM
- bone marrow: 17 nTPM
- tonsil: 14 nTPM
- choroid plexus: 12 nTPM
- lymph node: 12 nTPM
Single-cell type
- monocyte progenitors: 80 nCPM
- erythrocyte progenitors: 71 nCPM
- early primary spermatocytes: 64 nCPM
- neutrophil progenitors: 44 nCPM
- choroid plexus epithelial cells: 40 nCPM
- megakaryocyte progenitors: 39 nCPM
Immune cell
- naive B-cell: 1.1 nTPM
- plasmacytoid DC: 0.8 nTPM
- memory B-cell: 0.6 nTPM
- memory CD4 T-cell: 0.2 nTPM
- myeloid DC: 0.2 nTPM
- memory CD8 T-cell: 0.1 nTPM
Brain region
- choroid plexus: 17 nTPM
- cerebellum: 0.9 nTPM
- thalamus: 0.9 nTPM
- hippocampal formation: 0.8 nTPM
- pons: 0.6 nTPM
- basal ganglia: 0.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BUB1B.
Disease | AllUniProt
Conditions BUB1B is implicated in, by any mechanism.
- Premature chromatid separation trait (PCS) MIM:176430
- Mosaic variegated aneuploidy syndrome 1 (MVA1) MIM:257300
Disease | GeneticClinVar
83 pathogenic / likely-pathogenic of 2,416 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mosaic variegated aneuploidy syndrome 1
- Premature chromatid separation trait
- Colorectal cancer
- Inborn genetic diseases
- Mosaic variegated aneuploidy syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.58
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.89
- DepMap mean gene effect
- -1.05
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- cell division
- meiotic sister chromatid cohesion, centromeric
- metaphase/anaphase transition of mitotic cell cycle
- mitotic spindle assembly checkpoint signaling
- protein localization to chromosome, centromeric region
Molecular functions
- ATP binding
- protein kinase activity
- protein serine kinase activity
- protein serine/threonine kinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BUB1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BUB1B as an antibody target. Whether an autoantibody or antibody against BUB1B could matter depends on whether native BUB1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BUB1B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BUB1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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