Bub1 BUB1, mitotic checkpoint serine/threonine kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bub1provided by MGI
Official Full Name: BUB1, mitotic checkpoint serine/threonine kinaseprovided by MGI
Primary source: MGI:MGI:1100510
See related: Ensembl:ENSMUSG00000027379 AllianceGenome:MGI:1100510
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bub1a; D2Xrf87
Summary: Predicted to enable protein kinase activity. Acts upstream of or within chromosome segregation and positive regulation of intrinsic apoptotic signaling pathway. Located in kinetochore. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in colorectal cancer. Orthologous to human BUB1 (BUB1 mitotic checkpoint serine/threonine kinase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E11.5 (RPKM 13.2), liver E14 (RPKM 9.4) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 62.1 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (127642117..127673790, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (127800197..127831859, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bub1 insufficiency attenuates TF expression and reduces TM suppression by blocking Akt and JNK phosphorylation, respectively, thus leading to the prevention of ARF and death caused by sepsis.
Title: Budding Uninhibited by Benzimidazole-1 Insufficiency Prevents Acute Renal Failure in Severe Sepsis by Maintaining Anticoagulant Functions of Vascular Endothelial Cells.
Bub1 coordinates checkpoint signalling by distinct domains for RZZ and BubR1 recruitment and localizes antagonistic checkpoint activities.
Title: Distinct domains in Bub1 localize RZZ and BubR1 to kinetochores to regulate the checkpoint.
It was shown that that Bub1 kinase activity integrates attachment error correction and mitotic checkpoint signaling by controlling the localization and activity of Aurora B kinase through phosphorylation of histone H2A at threonine 121.
Title: Bub1 kinase activity drives error correction and mitotic checkpoint control but not tumor suppression.
Results establish that Bub1 has oncogenic properties and suggest that Aurora B is a critical target through which overexpressed Bub1 drives aneuploidization and tumorigenesis.
Title: Bub1 overexpression induces aneuploidy and tumor formation through Aurora B kinase hyperactivation.
It seems that Sgo1 sets up the centromeric protection mechanism in G2, but that its Bub1-dependent localisation to centromeres during mitosis is not required to maintain cohesion.
Title: Sgo1 establishes the centromeric cohesion protection mechanism in G2 before subsequent Bub1-dependent recruitment in mitosis.
Bub1 insufficiency can drive tumor formation through tumor suppressor gene loss of heterozygosity, but only in restricted genetic and cellular contexts
Title: Whole chromosome instability caused by Bub1 insufficiency drives tumorigenesis through tumor suppressor gene loss of heterozygosity.
Bub1 dysfunction is linked to inherited aneuploidy in female germ cells and may contribute to the maternal age-related increase in aneuploidy and pregnancy loss.
Title: Heterozygosity for a Bub1 mutation causes female-specific germ cell aneuploidy in mice.
Data show that the anaphase-promoting complex is activated in an exponential fashion after germinal vesicle breakdown in oocytes and that this process is advanced by 5 hr in oocytes lacking Bub1.
Title: Regulation of APC/C activity in oocytes by a Bub1-dependent spindle assembly checkpoint.
Bub1 is essential for proper chromosome segregation, a defect that can lead to severe phenotypes, including perinatal lethality and a predisposition to cancer.
Title: Impaired Bub1 function in vivo compromises tension-dependent checkpoint function leading to aneuploidy and tumorigenesis.
Bub1 is important for mediating cell death when chromosomes missegregate.
Title: Bub1 mediates cell death in response to chromosome missegregation and acts to suppress spontaneous tumorigenesis.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (9) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bub1 (e-PCR), detects polymorphism
- UniSTS:265251

RH126827 (e-PCR)
- UniSTS:207395

Bub1 (e-PCR), detects polymorphism
- UniSTS:506757

RH125393 (e-PCR)
- UniSTS:162215

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2A kinase activity	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiotic sister chromatid cohesion, centromeric	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly checkpoint signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitotic spindle checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric	ISO Inferred from Sequence Orthology more info
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of chromosome segregation	ISO Inferred from Sequence Orthology more info
involved_in regulation of sister chromatid cohesion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of outer kinetochore	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mitotic checkpoint serine/threonine-protein kinase BUB1

Names: budding uninhibited by benzimidazoles 1 homolog; mBUB1

NP_001106650.1

EC 2.7.11.1

NP_033902.2

EC 2.7.11.1

XP_006498683.1

EC 2.7.11.1

XP_036013667.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001113179.1 → NP_001106650.1 mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK042932, AK144213, AL844204, U89795

Consensus CDS

CCDS50706.1

UniProtKB/TrEMBL

A2APR8, Q8K1K8

Related

ENSMUSP00000028858.8, ENSMUST00000028858.9

Conserved Domains (2) summary

pfam08311
Location:6 → 125

Mad3_BUB1_I; Mad3/BUB1 homology region 1

cl21453
Location:761 → 1047

PKc_like; Protein Kinases, catalytic domain
NM_009772.2 → NP_033902.2 mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AK042932, AL844204, U89795

UniProtKB/Swiss-Prot

O08901, O09007

UniProtKB/TrEMBL

A0A8I4YXJ8

Related

ENSMUSP00001091667.1, ENSMUST00020183811.1

Conserved Domains (2) summary

pfam08311
Location:6 → 125

Mad3_BUB1_I; Mad3/BUB1 homology region 1

cl21453
Location:760 → 1046

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

127642117..127673790 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157774.1 → XP_036013667.1 mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X2

UniProtKB/Swiss-Prot

O08901, O09007

Conserved Domains (2) summary

pfam08311
Location:9 → 125

Mad3_BUB1_I; Mad3/BUB1 homology region 1

cl21453
Location:746 → 1032

PKc_like; Protein Kinases, catalytic domain
XM_006498620.4 → XP_006498683.1 mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

UniProtKB/TrEMBL

Q8K1K8

Conserved Domains (2) summary

pfam08311
Location:9 → 125

Mad3_BUB1_I; Mad3/BUB1 homology region 1

cl21453
Location:747 → 1033

PKc_like; Protein Kinases, catalytic domain