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

Gene ID: 699, updated on 4-Jan-2025

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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (110637528..110678063, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (111060427..111100976, complement)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Colorectal cancer
MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs
Microcephaly 30, primary, autosomal recessive
MedGen: C5774280 OMIM: 620183 GeneReviews: Not available
not available

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

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 28
Function Evidence Code Pubs
enables 3-phosphoinositide-dependent protein kinase activity  
enables AMP-activated protein kinase activity  
enables ATP binding  
enables DNA-dependent protein kinase activity  
enables Rho-dependent protein serine/threonine kinase activity  
enables eukaryotic translation initiation factor 2alpha kinase activity  
enables histone H2A kinase activity PubMed 
enables histone H2AS1 kinase activity  
enables histone H2AS121 kinase activity  
enables histone H2AT120 kinase activity  
enables histone H2AXS139 kinase activity  
enables histone H2BS14 kinase activity  
enables histone H2BS36 kinase activity  
enables histone H3S10 kinase activity  
enables histone H3S28 kinase activity  
enables histone H3S57 kinase activity  
enables histone H3T11 kinase activity  
enables histone H3T3 kinase activity  
enables histone H3T45 kinase activity  
enables histone H3T6 kinase activity  
enables histone H4S1 kinase activity  
enables protein binding PubMed 
enables protein kinase activity  
enables protein kinase activity PubMed 
enables protein kinase activity PubMed 
enables protein serine kinase activity  
enables protein serine/threonine kinase activity PubMed 
enables ribosomal protein S6 kinase activity  
Items 1 - 25 of 28
Component Evidence Code Pubs
located_in cytosol  
located_in cytosol  
located_in intracellular membrane-bounded organelle  
is_active_in kinetochore  
located_in kinetochore PubMed 
located_in membrane PubMed 
located_in nucleoplasm  
is_active_in nucleus  
part_of outer kinetochore 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_2024_08

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
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