Bub1b BUB1B, mitotic checkpoint serine/threonine kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bub1bprovided by MGI
Official Full Name: BUB1B, mitotic checkpoint serine/threonine kinaseprovided by MGI
Primary source: MGI:MGI:1333889
See related: Ensembl:ENSMUSG00000040084 AllianceGenome:MGI:1333889
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: BUBR1
Summary: Predicted to enable protein kinase activity. Acts upstream of or within metaphase/anaphase transition of mitotic cell cycle and protein localization to chromosome, centromeric region. Located in kinetochore. Part of outer kinetochore. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study mosaic variegated aneuploidy syndrome 1. Human ortholog(s) of this gene implicated in colorectal cancer and mosaic variegated aneuploidy syndrome 1. Orthologous to human BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E11.5 (RPKM 30.8), liver E14 (RPKM 21.6) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 59.4 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (118428684..118472073)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (118598202..118641592)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Loss of BubR1 acetylation provokes replication stress and leads to complex chromosomal rearrangements.
Title: Loss of BubR1 acetylation provokes replication stress and leads to complex chromosomal rearrangements.
Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.
Title: Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.
Spindle assembly checkpoint gene BUB1B is essential in breast cancer cell survival.
Title: Spindle assembly checkpoint gene BUB1B is essential in breast cancer cell survival.
BUBR1 allelic effects beyond protein level and aneuploidy contribute to disease heterogeneity in both Mosaic-variegated aneuploidy (MVA) patients and heterozygous carriers of MVA mutations.
Title: BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome.
the ependymal cell layer does not form in the conditional knockout, revealing an unrecognized role of BubR1 in assuring the integrity of the ventricular system, which may account for the presence of hydrocephalus in some patients.
Title: Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.
the BubR1 signal is markedly elevated in metaphase kinetochores of oocytes with SETD2 depletion, indicative of the activation of spindle assembly checkpoint. In addition, we note that loss of SETD2 results in a drastic decrease in the trimethylation level of H3K36 in oocytes. Collectively, our data demonstrate that SETD2 is required for oocyte maturation and indicate a novel mechanism controlling the meiotic apparatus.
Title: Histone methyltransferase SETD2 is required for meiotic maturation in mouse oocyte.
that Sirt2-dependent BubR1 deacetylation involves in the regulation of meiotic apparatus in normal oocytes and mediates the effects of advanced maternal age on oocyte quality
Title: Sirt2-BubR1 acetylation pathway mediates the effects of advanced maternal age on oocyte quality.
BubR1 insufficiency impairs angiogenesis and results in limb loss in ischemic hind limbs.
Title: BubR1 insufficiency impairs angiogenesis in aging and in experimental critical limb ischemic mice.
Up-regulation of desmocollin-1 (DSC1) was observed in wild-type, but not Low-budding uninhibited by benzimidazole-related 1(BubR1)-expressing mutant (BubR1(L/L)) mice after partial hepatectomy (PHx).
Title: BubR1 Insufficiency Impairs Liver Regeneration in Aged Mice after Hepatectomy through Intercalated Disc Abnormality.
The combination of budding uninhibited by benzimidazole-related 1 (BUBR1) insufficiency and administration of KBrO3 worsens the proliferative capacity compared with the impaired proliferation induced by BUBR1 insufficiency alone.
Title: BUBR1 Insufficiency in Mice Increases their Sensitivity to Oxidative Stress.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Variation

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Alleles

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

Gene trapped (3) 1 citation
Targeted (7) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU045529 (e-PCR)
- UniSTS:159002

Bub1b (e-PCR), detects polymorphism
- UniSTS:527274

Bub1b (e-PCR), detects polymorphism
- UniSTS:546552

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation 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
involved_in meiotic sister chromatid cohesion, centromeric	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within metaphase/anaphase transition of mitotic cell cycle	IGI Inferred from Genetic Interaction more info	PubMed
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
involved_in mitotic spindle assembly checkpoint signaling	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein localization to chromosome, centromeric region	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	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	IMP Inferred from Mutant Phenotype more info	PubMed
located_in kinetochore	ISO Inferred from Sequence Orthology more info
part_of mitotic checkpoint complex	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of outer kinetochore	IDA Inferred from Direct Assay more info	PubMed
part_of outer kinetochore	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in spindle	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: MAD3/BUB1-related protein kinase; budding uninhibited by benzimidazoles 1 beta; budding uninhibited by benzimidazoles 1 homolog, beta; mitotic checkpoint kinase MAD3L

NP_033903.2

EC 2.7.11.1

XP_006498685.1

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_009773.3 → NP_033903.2 mitotic checkpoint serine/threonine-protein kinase BUB1 beta

See identical proteins and their annotated locations for NP_033903.2

Status: VALIDATED

Source sequence(s)

AK133909, AV315589, BU054510, BY013487

Consensus CDS

CCDS16579.1

UniProtKB/Swiss-Prot

A2ARS1, Q9Z1S0

UniProtKB/TrEMBL

Q3UZD6

Related

ENSMUSP00000037126.8, ENSMUST00000038341.8

Conserved Domains (3) summary

COG0515
Location:825 → 909

SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]

pfam08311
Location:51 → 172

Mad3_BUB1_I; Mad3/BUB1 homology region 1

cl21453
Location:739 → 1035

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

118428684..118472073

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498622.4 → XP_006498685.1 mitotic checkpoint serine/threonine-protein kinase BUB1 beta isoform X1

UniProtKB/TrEMBL

Q3UZD6

Conserved Domains (3) summary

TIGR01645
Location:253 → 445

half-pint; poly-U binding splicing factor, half-pint family

pfam08311
Location:51 → 172

Mad3_BUB1_I; Mad3/BUB1 homology region 1

cl21453
Location:740 → 1036

PKc_like; Protein Kinases, catalytic domain