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

Gene ID: 9184, updated on 5-Jul-2020

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
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

Genomic context

See BUB3 in Genome Data Viewer
Location:
10q26.13
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (123154244..123170467)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124913760..124924886)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H6 family homeobox 3 Neighboring gene H6 family homeobox 2 Neighboring gene Sharpr-MPRA regulatory region 11829 Neighboring gene ribosomal protein S26 pseudogene 39 Neighboring gene uncharacterized LOC107984275

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI 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.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
attachment of spindle microtubules to kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
cell division IEA
Inferred from Electronic Annotation
more info
 
meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
mitotic sister chromatid segregation IEA
Inferred from Electronic Annotation
more info
 
mitotic spindle assembly checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to kinetochore IPI
Inferred from Physical Interaction
more info
PubMed 
regulation of mitotic cell cycle phase transition TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
bub1-bub3 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
mitotic checkpoint complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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_033794.1 RefSeqGene

    Range
    5001..16127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007793.2NP_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, BM989334, BP328027
    Consensus CDS
    CCDS31306.1
    UniProtKB/Swiss-Prot
    O43684
    UniProtKB/TrEMBL
    A0A140VJF3
    Related
    ENSP00000357851.5, ENST00000368858.9
    Conserved Domains (2) summary
    sd00039
    Location:1754
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:14296
    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 ...
  2. NM_004725.4NP_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
    O43684
    Related
    ENSP00000357858.4, ENST00000368865.9
    Conserved Domains (2) summary
    sd00039
    Location:1754
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:14296
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    123154244..123170467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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