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

Gene ID: 699, updated on 27-Apr-2015
Official Symbol
BUB1provided by HGNC
Official Full Name
BUB1 mitotic checkpoint serine/threonine kinaseprovided by HGNC
Primary source
HGNC:HGNC:1148
See related
Ensembl:ENSG00000169679; HPRD:03907; MIM:602452; Vega:OTTHUMG00000153638
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
BUB1A; BUB1L; hBUB1
Summary
This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Orthologs
See BUB1 in MapViewer
Location:
2q14
Exon count:
25
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (110637527..110678107, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (111395275..111435684, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373553 Neighboring gene ribosomal protein L22 pseudogene 12 Neighboring gene uncharacterized LOC105373554 Neighboring gene uncharacterized LOC105373555

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • Aurora B signaling, organism-specific biosystem (from Pathway Interaction Database)
    Aurora B signaling, organism-specific biosystem
    Aurora B signaling
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • 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 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 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...
  • 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...
  • Oocyte meiosis, organism-specific biosystem (from KEGG)
    Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
  • Oocyte meiosis, conserved biosystem (from KEGG)
    Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
  • PLK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    PLK1 signaling events, organism-specific biosystem
    PLK1 signaling events
  • Progesterone-mediated oocyte maturation, organism-specific biosystem (from KEGG)
    Progesterone-mediated oocyte maturation, organism-specific biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
  • Progesterone-mediated oocyte maturation, conserved biosystem (from KEGG)
    Progesterone-mediated oocyte maturation, conserved biosystemXenopus oocytes are naturally arrested at G2 of meiosis I. Exposure to either insulin/IGF-1 or the steroid hormone progesterone breaks this arrest and induces resumption of the two meiotic division c...
  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

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 TAS
Traceable Author Statement
more info
PubMed 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
chromosome segregation IEA
Inferred from Electronic Annotation
more info
 
mitotic cell cycle TAS
Traceable Author Statement
more info
 
mitotic cell cycle checkpoint TAS
Traceable Author Statement
more info
PubMed 
mitotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
mitotic spindle assembly checkpoint TAS
Traceable Author Statement
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of sister chromatid cohesion IDA
Inferred from Direct Assay
more info
PubMed 
small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
spindle assembly checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
spindle assembly checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
condensed chromosome kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
condensed nuclear chromosome outer kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
mitotic checkpoint serine/threonine-protein kinase BUB1
Names
mitotic checkpoint serine/threonine-protein kinase BUB1
BUB1 budding uninhibited by benzimidazoles 1 homolog
budding uninhibited by benzimidazoles 1 homolog
mitotic spindle checkpoint kinase
putative serine/threonine-protein kinase
NP_001265545.1
NP_001265546.1
NP_004327.1

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_012048.1 RefSeqGene

    Range
    5001..45409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278616.1NP_001265545.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AC226101, AK302418
    Consensus CDS
    CCDS62984.1
    UniProtKB/TrEMBL
    B4DYG2
    Related
    ENSP00000441013, ENST00000535254
    Conserved Domains (2) summary
    smart00777
    Location:8105
    Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
    cd14028
    Location:7661053
    STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1
  2. NM_001278617.1NP_001265546.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 3 which is shorter than isoform 1.
    Source sequence(s)
    AC226101, AK225317
    Consensus CDS
    CCDS62985.1
    UniProtKB/Swiss-Prot
    O43683
    Related
    ENSP00000386701, OTTHUMP00000204239, ENST00000409311, OTTHUMT00000331926
    Conserved Domains (2) summary
    pfam08311
    Location:6126
    Mad3_BUB1_I; Mad3/BUB1 homology region 1
    cl21453
    Location:7861016
    PKc_like; Catalytic domain of the Protein Kinase superfamily
  3. NM_004336.4NP_004327.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 1

    See identical proteins and their annotated locations for NP_004327.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC226101, AF047471
    Consensus CDS
    CCDS33273.1
    UniProtKB/Swiss-Prot
    O43683
    Related
    ENSP00000302530, OTTHUMP00000204238, ENST00000302759, OTTHUMT00000331925
    Conserved Domains (2) summary
    pfam08311
    Location:6126
    Mad3_BUB1_I; Mad3/BUB1 homology region 1
    cd14028
    Location:7861073
    STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    110637527..110678107
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_923001.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    111399569..111439978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)