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

Gene ID: 699, updated on 23-Nov-2023

Summary

Official Symbol
BUB1provided by HGNC
Official Full Name
BUB1 mitotic checkpoint serine/threonine kinaseprovided by HGNC
Primary source
HGNC:HGNC:1148
See related
Ensembl:ENSG00000169679 MIM:602452; AllianceGenome:HGNC:1148
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
BUB1A; BUB1L; hBUB1; MCPH30
Summary
This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Biased expression in testis (RPKM 25.2), lymph node (RPKM 11.3) and 10 other tissues See more
Orthologs
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Genomic context

See BUB1 in Genome Data Viewer
Location:
2q13
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (110637528..110678063, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (111060427..111100976, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (111395105..111435640, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373553 Neighboring gene ribosomal protein L22 pseudogene 12 Neighboring gene small nucleolar RNA, C/D box 132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16371 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:111434896-111435816 Neighboring gene uncharacterized LOC105373554 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:111435817-111436737 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:111445059-111446030 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:111446031-111447002 Neighboring gene Sharpr-MPRA regulatory region 12654 Neighboring gene uncharacterized LOC124906064

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?

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables histone H2A kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
enables protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in chromosome segregation 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 mitotic spindle assembly checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitotic spindle assembly checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of sister chromatid cohesion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
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 membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
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 

General protein information

Preferred Names
mitotic checkpoint serine/threonine-protein kinase BUB1
Names
BUB1 budding uninhibited by benzimidazoles 1 homolog
budding uninhibited by benzimidazoles 1 homolog
mitotic spindle checkpoint kinase
putative serine/threonine-protein kinase
NP_001265545.1
NP_001265546.1
NP_004327.1
XP_047301572.1
XP_054199555.1

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

  1. NG_012048.2 RefSeqGene

    Range
    5000..45535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278616.2NP_001265545.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AC226101, AK302418
    Consensus CDS
    CCDS62984.1
    UniProtKB/TrEMBL
    B4DYG2
    Related
    ENSP00000441013.1, ENST00000535254.6
    Conserved Domains (2) summary
    smart00777
    Location:8105
    Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
    cd14028
    Location:7661053
    STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1
  2. NM_001278617.2NP_001265546.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 3 which is shorter than isoform 1.
    Source sequence(s)
    AC226101, AK225317
    Consensus CDS
    CCDS62985.1
    UniProtKB/TrEMBL
    A8K5A6
    Related
    ENSP00000386701.1, ENST00000409311.5
    Conserved Domains (2) summary
    smart00777
    Location:5125
    Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
    cl21453
    Location:7861016
    PKc_like; Protein Kinases, catalytic domain
  3. NM_004336.5NP_004327.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 1

    See identical proteins and their annotated locations for NP_004327.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC226101, AF047471
    Consensus CDS
    CCDS33273.1
    UniProtKB/Swiss-Prot
    E9PC26, F5GXI5, O43430, O43643, O43683, O60626, Q53QE4
    UniProtKB/TrEMBL
    A8K5A6
    Related
    ENSP00000302530.6, ENST00000302759.11
    Conserved Domains (2) summary
    smart00777
    Location:5125
    Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1
    cd14028
    Location:7861073
    STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    110637528..110678063 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445616.1XP_047301572.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

    UniProtKB/TrEMBL
    A0JLU2
    Related
    ENST00000466333.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    111060427..111100976 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343580.1XP_054199555.1  mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1

    UniProtKB/TrEMBL
    A0JLU2