BOP1 (block of proliferation 1)

2008-10-01   Audrey Killian , Richard Sesboüé 

INSERM U614, Faculté de Médecine-Pharmacie de Rouen, 22 boulevard Gambetta, 76183 ROUEN Cedex 1, France

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
-
FUSION GENES

DNA/RNA

Atlas Image
A: Genomic structure of BOP1: the gene extends over 29kb with 16 exons (lower part). Exons 4-16 (upper part) are clustered in 2.6 kb while exons 1-3 are separated by large (2-12 kb) introns.

Description

The BOP1 gene is situated 16.6 Mb downstream from the MYC proto-oncogene (8q24.21) and 0.8 Mb upstream from the telomere (Fig1B).

Transcription

BOP1 mRNA (NM_015201) has a size of 2422 bp.

Pseudogene

No pseudogene has been reported for BOP1, but the NCBI Map viewer (Build 36.3) displays a perfect match encompassing exons 4-16, 64kb centromeric to the gene.

Proteins

Atlas Image
Position of the WD repeats.

Description

The Ribosome biogenesis protein BOP1 consists of 746 amino acids and has a molecular weight of 83.63 kDa. It contains 7 WD repeats.

Expression

BOP1 is expressed ubiquitously and found in nearly all tissues at similar levels.

Localisation

Nucleus, nucleolus.

Function

Required for maturation of the 25S and 5.8S ribosomal RNAs. Essential for cell proliferation. Involved in chromosomal segregation.

Homology

Mus musculus Bop1; Rattus norvegicus Bop1; Equus caballus BOP1; Bos taurus BOP1

Mutations

Note

None described to date.

Implicated in

Entity name
Colorectal cancer
Note
A copy number increase of the BOP1 gene was detected in 39% of colorectal cancer samples (n=56) and was associated with an increase of its mRNA level. This copy number increase was more frequent than that observed for MYC, a proto-oncogene located 16.6 Mb upstream from BOP1 and was distinct from MYC amplification in 16% of the cases.

Transient overexpression of BOP1 in human cells increased the percentage of abnormal mitoses with multipolar spindles.

Bibliography

Pubmed IDLast YearTitleAuthors
167381412006Dominant-negative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex.Grimm T et al
160435142005Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation.Hölzel M et al
154677612004Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability.Killian A et al
168049182006Contribution of the BOP1 gene, located on 8q24, to colorectal tumorigenesis.Killian A et al
173532692007Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit.Rohrmoser M et al

Other Information

Locus ID:

NCBI: 23246
MIM: 610596
HGNC: 15519
Ensembl: ENSG00000261236

Variants:

dbSNP: 23246
ClinVar: 23246
TCGA: ENSG00000261236
COSMIC: BOP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000261236ENST00000569403A0A075B729
ENSG00000261236ENST00000569669Q14137

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
168049182006Contribution of the BOP1 gene, located on 8q24, to colorectal tumorigenesis.25
215201962011Block of proliferation 1 (BOP1) plays an oncogenic role in hepatocellular carcinoma by promoting epithelial-to-mesenchymal transition.18
258251542015DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex.7
307828372019Loss of BOP1 confers resistance to BRAF kinase inhibitors in melanoma by activating MAP kinase pathway.5

Citation

Audrey Killian ; Richard Sesboüé

BOP1 (block of proliferation 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/44348/bop1