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

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; AllianceGenome:HGNC:1149
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: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (40161069..40221123)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (37967956..38028008)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (40453270..40513324)

Chromosome 15 - NC_000015.10 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: 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of BUB1B Inhibits the Proliferation, Migration, and Invasion of Colorectal Cancer by Regulating the JNK/c-Jun Signaling Pathway.
Title: Knockdown of BUB1B Inhibits the Proliferation, Migration, and Invasion of Colorectal Cancer by Regulating the JNK/c-Jun Signaling Pathway.
BubR1 and cyclin B1 immunoexpression in pleomorphic adenoma and polymorphous adenocarcinoma of minor salivary glands.
Title: BubR1 and cyclin B1 immunoexpression in pleomorphic adenoma and polymorphous adenocarcinoma of minor salivary glands.
E3-ubiquitin ligase, FBXW7 regulates mitotic progression by targeting BubR1 for ubiquitin-mediated degradation.
Title: E3-ubiquitin ligase, FBXW7 regulates mitotic progression by targeting BubR1 for ubiquitin-mediated degradation.
Clinical value and potential mechanisms of BUB1B up-regulation in nasopharyngeal carcinoma.
Title: Clinical value and potential mechanisms of BUB1B up-regulation in nasopharyngeal carcinoma.
BubR1 recruitment to the kinetochore via Bub1 enhances spindle assembly checkpoint signaling.
Title: BubR1 recruitment to the kinetochore via Bub1 enhances spindle assembly checkpoint signaling.
BUBs Are New Biomarkers of Promoting Tumorigenesis and Affecting Prognosis in Breast Cancer.
Title: BUBs Are New Biomarkers of Promoting Tumorigenesis and Affecting Prognosis in Breast Cancer.
BUB1B and circBUB1B_544aa aggravate multiple myeloma malignancy through evoking chromosomal instability.
Title: BUB1B and circBUB1B_544aa aggravate multiple myeloma malignancy through evoking chromosomal instability.
BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B) promotes lung adenocarcinoma by interacting with Zinc Finger Protein ZNF143 and regulating glycolysis.
Title: BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B) promotes lung adenocarcinoma by interacting with Zinc Finger Protein ZNF143 and regulating glycolysis.
Increased BUB1B/BUBR1 expression contributes to aberrant DNA repair activity leading to resistance to DNA-damaging agents.
Title: Increased BUB1B/BUBR1 expression contributes to aberrant DNA repair activity leading to resistance to DNA-damaging agents.
BUBR1 Pseudokinase Domain Promotes Kinetochore PP2A-B56 Recruitment, Spindle Checkpoint Silencing, and Chromosome Alignment.
Title: BUBR1 Pseudokinase Domain Promotes Kinetochore PP2A-B56 Recruitment, Spindle Checkpoint Silencing, and Chromosome Alignment.

Submit: New GeneRIF Correction See all GeneRIFs (131)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Colorectal cancer MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome	Compare labs
Mosaic variegated aneuploidy syndrome 1 MedGen: C1850343 OMIM: 257300 GeneReviews: Not available	Compare labs
Premature chromatid separation trait MedGen: C1864389 OMIM: 176430 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Readthrough BUB1B-PAK6

Readthrough gene: BUB1B-PAK6, Included gene: PAK6

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP 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 kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in 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
involved_in metaphase/anaphase transition of mitotic cell cycle	IEA Inferred from Electronic Annotation 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	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly checkpoint signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromosome, centromeric region	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of anaphase-promoting complex	TAS Traceable Author Statement more info	PubMed
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
part_of mitotic checkpoint complex	IPI Inferred from Physical Interaction more info	PubMed
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
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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_001202.5

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.

Genomic

NG_016338.1 RefSeqGene

Range

5001..65128

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_489

mRNA and Protein(s)

NM_001211.6 → NP_001202.5 mitotic checkpoint serine/threonine-protein kinase BUB1 beta

Status: REVIEWED

Source sequence(s)

AC025429

Consensus CDS

CCDS10053.1

UniProtKB/Swiss-Prot

B2R6U0, B4DL09, B4DLG3, O60501, O60566, O60627, O60758, O75389, Q59HH6, Q8WV50, Q96KM4

Related

ENSP00000287598.7, ENST00000287598.11

Conserved Domains (3) summary

PTZ00121
Location:369 → 488

PTZ00121; MAEBL; Provisional

cd14029
Location:750 → 1045

STKc_BubR1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein BubR1

pfam08311
Location:57 → 178

Mad3_BUB1_I; Mad3/BUB1 homology region 1