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BUB1B BUB1 mitotic checkpoint serine/threonine kinase B [ Homo sapiens (human) ]

Gene ID: 701, updated on 7-Oct-2018

Summary

Official Symbol
BUB1Bprovided by HGNC
Official Full Name
BUB1 mitotic checkpoint serine/threonine kinase Bprovided by HGNC
Primary source
HGNC:HGNC:1149
See related
Ensembl:ENSG00000156970 MIM:602860; Vega:OTTHUMG00000129877
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MVA1; SSK1; BUBR1; Bub1A; MAD3L; hBUBR1; BUB1beta
Summary
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]
Expression
Biased expression in testis (RPKM 16.5), bone marrow (RPKM 7.5) and 12 other tissues See more
Orthologs

Genomic context

See BUB1B in Genome Data Viewer
Location:
15q15.1
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (40161009..40221136)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40453210..40513337)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1611 Neighboring gene Bcl2 modifying factor Neighboring gene MT-ND5 pseudogene 37 Neighboring gene uncharacterized LOC107984763 Neighboring gene BUB1B-PAK6 readthrough Neighboring gene p21 (RAC1) activated kinase 6 Neighboring gene chromosome 15 open reading frame 56 Neighboring gene ankyrin repeat domain 63

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Carcinoma of colon
MedGen: C0699790 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs
Mosaic variegated aneuploidy syndrome 1
MedGen: CN031748 OMIM: 257300 GeneReviews: Not available
Compare labs
Premature chromatid separation trait
MedGen: C1864389 OMIM: 176430 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Activation of the spindle checkpoint proteins MAD2, BUB1, and BUBR1 is necessary for the activity of HIV-1 Tat to induce mitotic arrest and subsequent apoptosis PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • APC-Cdc20 mediated degradation of Nek2A, organism-specific biosystem (from REACTOME)
    APC-Cdc20 mediated degradation of Nek2A, organism-specific biosystemLike Cyclin A, NIMA-related kinase 2A (Nek2A) is degraded during pro-metaphase in a checkpoint-independent manner.
  • APC/C-mediated degradation of cell cycle proteins, organism-specific biosystem (from REACTOME)
    APC/C-mediated degradation of cell cycle proteins, organism-specific biosystemThe Anaphase Promoting Complex or Cyclosome (APC/C) functions during mitosis to promote sister chromatid separation and mitotic exit through the degradation of mitotic cyclins and securin. This compl...
  • APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
    APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemFollowing phosphorylation of the APC/C core subunits by mitotic kinases, the activating protein, Cdc20 is recruited to the APC and promotes the multiubiquitination and subsequent degradation of the ...
  • APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint, organism-specific biosystem (from REACTOME)
    APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint, organism-specific biosystemAPC:CDC20 mediates the degradation of a number of cell cycle proteins including Cyclin A and Nek2A.
  • Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystem (from REACTOME)
    Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins, organism-specific biosystemAPC/C:Cdc20 is first activated at the prometaphase/metaphase transition through phosphorylation of core subunits of the APC/C by mitotic kinases as well as recruitment of the APC/C activator protein ...
  • Cdc20:Phospho-APC/C mediated degradation of Cyclin A, organism-specific biosystem (from REACTOME)
    Cdc20:Phospho-APC/C mediated degradation of Cyclin A, organism-specific biosystemCyclin A, functions in mitosis as well as DNA replication and is degraded in the interim by the APC/C to permit normal chromosome segregation, cell division, and the onset of S phase (see Lukas an...
  • Cell Cycle, organism-specific biosystem (from WikiPathways)
    Cell Cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Cell cycle, organism-specific biosystem (from KEGG)
    Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cell cycle, conserved biosystem (from KEGG)
    Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Inactivation of APC/C via direct inhibition of the APC/C complex, organism-specific biosystem (from REACTOME)
    Inactivation of APC/C via direct inhibition of the APC/C complex, organism-specific biosystemIn the direct inhibition model, the cytosolic Mitotic Checkpoint Complex, consisting of hBUBR1, hBUB3, Cdc20 and Mad2, directly inhibits APC/C by binding to it.
  • Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components, organism-specific biosystem (from REACTOME)
    Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components, organism-specific biosystemThe target of the mitotic checkpoint is the Anaphase Promoting Complex/Cyclosome (APC/C) an E3 ubiquitin ligase that targets proteins whose destruction is essential for mitotic exit. Currently, there...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • Mitotic Spindle Checkpoint, organism-specific biosystem (from REACTOME)
    Mitotic Spindle Checkpoint, organism-specific biosystemThe mitotic checkpoint or spindle assembly checkpoint is an evolutionarily conserved mechanism that ensures that cells with misaligned chromosomes do not exit mitosis and divide to form aneuploid cel...
  • PLK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    PLK1 signaling events, organism-specific biosystem
    PLK1 signaling events
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Regulation of APC/C activators between G1/S and early anaphase, organism-specific biosystem (from REACTOME)
    Regulation of APC/C activators between G1/S and early anaphase, organism-specific biosystemThe APC/C is activated by either Cdc20 or Cdh1. While both activators associate with the APC/C, they do so at different points in the cell cycle and their binding is regulated differently (see Zacha...
  • Regulation of mitotic cell cycle, organism-specific biosystem (from REACTOME)
    Regulation of mitotic cell cycle, organism-specific biosystem
    Regulation of mitotic cell cycle
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough BUB1B-PAK6

Readthrough gene: BUB1B-PAK6, Included gene: PAK6

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
meiotic sister chromatid cohesion, centromeric IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metaphase/anaphase transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
mitotic cell cycle NAS
Non-traceable Author Statement
more info
PubMed 
mitotic cell cycle checkpoint TAS
Traceable Author Statement
more info
PubMed 
mitotic spindle assembly checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
anaphase-promoting complex TAS
Traceable Author Statement
more info
PubMed 
condensed chromosome kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome outer kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
condensed nuclear chromosome kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
spindle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mitotic checkpoint serine/threonine-protein kinase BUB1 beta
Names
BUB1B, mitotic checkpoint serine/threonine kinase
MAD3/BUB1-related protein kinase
budding uninhibited by benzimidazoles 1 homolog beta
mitotic checkpoint kinase MAD3L
NP_001202.4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016338.1 RefSeqGene

    Range
    5001..65128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_489

mRNA and Protein(s)

  1. NM_001211.5NP_001202.4  mitotic checkpoint serine/threonine-protein kinase BUB1 beta

    See identical proteins and their annotated locations for NP_001202.4

    Status: REVIEWED

    Source sequence(s)
    AC025429, AF053306, AI742619
    Consensus CDS
    CCDS10053.1
    UniProtKB/Swiss-Prot
    O60566
    Related
    ENSP00000287598.6, OTTHUMP00000160319, ENST00000287598.10, OTTHUMT00000252122
    Conserved Domains (4) summary
    COG0515
    Location:8371015
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    pfam06644
    Location:421496
    ATP11; ATP11 protein
    pfam08311
    Location:57178
    Mad3_BUB1_I; Mad3/BUB1 homology region 1
    cl21453
    Location:7501045
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    40161009..40221136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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