BUB3 BUB3 mitotic checkpoint protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: BUB3provided by HGNC
Official Full Name: BUB3 mitotic checkpoint proteinprovided by HGNC
Primary source: HGNC:HGNC:1151
See related: Ensembl:ENSG00000154473 MIM:603719; AllianceGenome:HGNC:1151
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: BUB3L; hBUB3
Summary: This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 41.0), appendix (RPKM 28.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (123154402..123170467)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (124029424..124045489)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (124913918..124929983)

Chromosome 10 - NC_000010.11 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: 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?

SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3.
Title: SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3.
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.
Research progress of Bub3 gene in malignant tumors.
Title: Research progress of Bub3 gene in malignant tumors.
Dual-functional significance of ATM-mediated phosphorylation of spindle assembly checkpoint component Bub3 in mitosis and the DNA damage response.
Title: Dual-functional significance of ATM-mediated phosphorylation of spindle assembly checkpoint component Bub3 in mitosis and the DNA damage response.
miR-664b-3p inhibits colon cell carcinoma via negatively regulating Budding uninhibited by benzimidazole 3.
Title: miR-664b-3p inhibits colon cell carcinoma via negatively regulating Budding uninhibited by benzimidazole 3.
The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.
Title: The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.
Expression and prognosis analyses of BUB1, BUB1B and BUB3 in human sarcoma.
Title: Expression and prognosis analyses of BUB1, BUB1B and BUB3 in human sarcoma.
[Expression and clinical significance of Spindly and Bub3 in oral squamous cell carcinoma].
Title: [Expression and clinical significance of Spindly and Bub3 in oral squamous cell carcinoma].
During mitosis, CRL4 dissociates from RepID and replaces it with RB Binding Protein 7 (RBBP7), which ubiquitinates the SAC mediator BUB3 to enable mitotic exit.
Title: The RepID-CRL4 ubiquitin ligase complex regulates metaphase to anaphase transition via BUB3 degradation.
Findings reveal a regulatory role of Bub3 in DMAP1-mediated DNA methylation upon mitotic stress.
Title: C-Src confers resistance to mitotic stress through inhibition DMAP1/Bub3 complex formation in pancreatic cancer.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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

EBI GWAS Catalog

Description
Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78800 (e-PCR)
- UniSTS:39487

SHGC-64047 (e-PCR)
- UniSTS:46781

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in attachment of spindle microtubules to kinetochore	IDA Inferred from Direct Assay more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in meiotic 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	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to kinetochore	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of bub1-bub3 complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement 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
part_of mitotic checkpoint complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mitotic checkpoint complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: mitotic checkpoint protein BUB3

Names: BUB3 budding uninhibited by benzimidazoles 3 homolog; budding uninhibited by benomyl; budding uninhibited by benzimidazoles 3 homolog; mitotic checkpoint component; testicular tissue protein Li 27

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_033794.2 RefSeqGene

Range

5002..21067

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001007793.3 → NP_001007794.1 mitotic checkpoint protein BUB3 isoform b

See identical proteins and their annotated locations for NP_001007794.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform b which has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AF047473, BP328027

Consensus CDS

CCDS31306.1

UniProtKB/TrEMBL

A0A140VJF3, J3QT28

Related

ENSP00000357851.5, ENST00000368858.9

Conserved Domains (2) summary

sd00039
Location:17 → 54

7WD40; WD40 repeat [structural motif]

cl29593
Location:14 → 296

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_004725.4 → NP_004716.1 mitotic checkpoint protein BUB3 isoform a

See identical proteins and their annotated locations for NP_004716.1

Status: REVIEWED

Description

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

Source sequence(s)

AC012391, AF047472, BM989334, BP328027

Consensus CDS

CCDS7635.1

UniProtKB/Swiss-Prot

A6NJ42, B2R6E7, D3DRE9, O43684, O43685

UniProtKB/TrEMBL

J3QT28

Related

ENSP00000357858.4, ENST00000368865.9

Conserved Domains (2) summary

sd00039
Location:17 → 54

7WD40; WD40 repeat [structural motif]

cl29593
Location:14 → 296

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...