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

Gene ID: 701, updated on 1-Jun-2020

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
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

Genomic context

See BUB1B in Genome Data Viewer
Location:
15q15.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (40161069..40221123)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40453210..40513337)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MT-ND5 pseudogene 37 Neighboring gene MT-ND4 pseudogene 37 Neighboring gene uncharacterized LOC107984763 Neighboring gene BUB1B-PAK6 readthrough Neighboring gene p21 (RAC1) activated kinase 6 Neighboring gene chromosome 15 open reading frame 56 Neighboring gene ankyrin repeat domain 63

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

Associated conditions

Description Tests
Mosaic variegated aneuploidy syndrome 1
MedGen: CN031748 OMIM: 257300 GeneReviews: Not available
Compare labs
Premature chromatid separation trait
MedGen: C1864389 OMIM: 176430 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough BUB1B-PAK6

Readthrough gene: BUB1B-PAK6, Included gene: PAK6

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
meiotic sister chromatid cohesion, centromeric IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle NAS
Non-traceable Author Statement
more info
PubMed 
mitotic cell cycle checkpoint TAS
Traceable Author Statement
more info
PubMed 
mitotic spindle assembly checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
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
anaphase-promoting complex TAS
Traceable Author Statement
more info
PubMed 
condensed chromosome kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome outer kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
condensed nuclear chromosome kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
spindle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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_016338.1 RefSeqGene

    Range
    5001..65128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_489

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC025429
    Consensus CDS
    CCDS10053.1
    Related
    ENSP00000287598.6, ENST00000287598.10

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_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    40161069..40221123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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