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

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: mouse all
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Genomic context

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_000002.12 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?

BUB1 potentiates gastric cancer proliferation and metastasis by activating TRAF6/NF-kappaB/FGF18 through m6A modification.
Title: BUB1 potentiates gastric cancer proliferation and metastasis by activating TRAF6/NF-κB/FGF18 through m6A modification.
BUB1 induces AKT/mTOR pathway activity to promote EMT induction in human small cell lung cancer.
Title: BUB1 induces AKT/mTOR pathway activity to promote EMT induction in human small cell lung cancer.
TIP60 acetylation of Bub1 regulates centromeric H2AT120 phosphorylation for faithful chromosome segregation.
Title: TIP60 acetylation of Bub1 regulates centromeric H2AT120 phosphorylation for faithful chromosome segregation.
Correlation of BUB1 and BUB1B with the development and prognosis of endometrial cancer.
Title: Correlation of BUB1 and BUB1B with the development and prognosis of endometrial cancer.
Bub1 suppresses inflammatory arthritis-associated bone loss in mice through inhibition of TNFalpha-mediated osteoclastogenesis.
Title: Bub1 suppresses inflammatory arthritis-associated bone loss in mice through inhibition of TNFα-mediated osteoclastogenesis.
Expression of the checkpoint kinase BUB1 is a predictor of response to cancer therapies.
Title: Expression of the checkpoint kinase BUB1 is a predictor of response to cancer therapies.
The mitotic checkpoint kinase BUB1 is a direct and actionable target of MYB in adenoid cystic carcinoma.
Title: The mitotic checkpoint kinase BUB1 is a direct and actionable target of MYB in adenoid cystic carcinoma.
Knockdown of BUB1 inhibits tumor necrosis factor-alpha-induced proliferation and migration of rheumatoid arthritis synovial fibroblasts by regulating PI3K/Akt pathway.
Title: Knockdown of BUB1 inhibits tumor necrosis factor-α-induced proliferation and migration of rheumatoid arthritis synovial fibroblasts by regulating PI3K/Akt pathway.
BubR1 recruitment to the kinetochore via Bub1 enhances spindle assembly checkpoint signaling.
Title: BubR1 recruitment to the kinetochore via Bub1 enhances spindle assembly checkpoint signaling.
BUB1 predicts poor prognosis and immune status in liver hepatocellular carcinoma.
Title: BUB1 predicts poor prognosis and immune status in liver hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (104)

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

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFMa037yb9 (e-PCR)
- UniSTS:24989

151XD12 (e-PCR)
- UniSTS:52162

D2S1888 (e-PCR), detects polymorphism
- UniSTS:82133

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2A kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
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
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

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 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 more info	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

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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

EC 2.7.11.1

NP_001265546.1

EC 2.7.11.1

NP_004327.1

EC 2.7.11.1

XP_047301572.1

EC 2.7.11.1

XP_054199555.1

EC 2.7.11.1

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

NG_012048.2 RefSeqGene

Range

5000..45535

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278616.2 → NP_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:8 → 105

Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1

cd14028
Location:766 → 1053

STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1
NM_001278617.2 → NP_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:5 → 125

Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1

cl21453
Location:786 → 1016

PKc_like; Protein Kinases, catalytic domain
NM_004336.5 → NP_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:5 → 125

Mad3_BUB1_I; Mad3/BUB1 hoMad3/BUB1 homology region 1

cd14028
Location:786 → 1073

STKc_Bub1_vert; Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein Bub1