| Written | 2008-10 | Audrey Killian, Richard Sesboüé |
| INSERM U614, Faculté de Médecine-Pharmacie de Rouen, 22 boulevard Gambetta, 76183 ROUEN Cedex 1, France |
| Identity |
| Alias_symbol (synonym) | KIAA0124 |
| Other alias | |
| HGNC (Hugo) | BOP1 |
| LocusID (NCBI) | 23246 |
| Atlas_Id | 44348 |
| Location | 8q24.3 [Link to chromosome band 8q24] |
| Location_base_pair | Starts at 144262046 and ends at 144291438 bp from pter ( according to hg19-Feb_2009) [Mapping BOP1.png] |
| Local_order | According to the NCBI map viewer, genes flanking BOP1, in centromere to telomere direction on 8q24.3, are: - GPAA1, 8q24.3, glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) - CYC1, 8q24.3, cytochrome c-1 - SHARPIN, 8q24.3, SHANK-associated RH domain interactor - MAF1, 8q24.3, MAF1 homolog (S. cerevisiae) - KIAA1875, 8q24.3 - C8orf30A, 8q24.3, chromosome 8 open reading frame 30A - KIAA1833, 8q24.3, hypothetical protein KIAA1833 - BOP1, 8q24.3, block of proliferation 1 - HSF1, 8q24.3, heat shock transcription factor 1 - DGAT1, 8q24.3, diacylglycerol O-acyltransferase homolog 1 (mouse) - FBXL6, 8q24.3, G protein-coupled receptor 172A - GPR172A, 8q24.3, G protein-coupled receptor 172A - ADCK5, 8q24.3, aarF domain containing kinase 5 - CPSF1, 8q24.3, cleavage and polyadenylation specific factor 1, 160kDa - SLC39A4, 8q24.3, solute carrier family 39 (zinc transporter), member 4 |
| Fusion genes (updated 2016) | BOP1 (8q24.3) / BOP1 (8q24.3) | BOP1 (8q24.3) / CYHR1 (8q24.3) | BOP1 (8q24.3) / NIPAL2 (8q22.2) |
| EIF5 (14q32.32) / BOP1 (8q24.3) | HSF1 (8q24.3) / BOP1 (8q24.3) |
| Note | The BOP1 gene is a member of the nucleolar PeBoW-complex (PES1, BOP1, WDR12) essential for cell proliferation and maturation of the large ribosomal subunit. On the basis of experiments performed in yeast, this complex is likely to involve other proteins: GRWD1, RPL3, and ORC6L. A better designation, found in some databases, should be: ribosome biogenesis protein BOP1. |
| DNA/RNA |
 | |
| 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. |
| Protein |
 | |
| 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 |
| Note | |
| Entity | 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 |
| Dominant-negative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex. |
| Grimm T, Holzel M, Rohrmoser M, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Eick D. |
| Nucleic Acids Res. 2006 May 31;34(10):3030-43. |
| PMID 16738141 |
| Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation. |
| Holzel M, Rohrmoser M, Schlee M, Grimm T, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Hiddemann W, Bornkamm GW, Eick D. |
| J Cell Biol. 2005 Aug 1;170(3):367-78. |
| PMID 16043514 |
| Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability. |
| Killian A, Le Meur N, Sesboue R, Bourguignon J, Bougeard G, Gautherot J, Bastard C, Frebourg T, Flaman JM. |
| Oncogene. 2004 Nov 11;23(53):8597-602. |
| PMID 15467761 |
| Contribution of the BOP1 gene, located on 8q24, to colorectal umorigenesis. |
| Killian A, Sarafan-Vasseur N, Sesboue R, Le Pessot F, Blanchard F, Lamy A, Laurent M, Flaman JM, Frebourg T. |
| Genes Chromosomes Cancer. 2006 Sep;45(9):874-81. |
| PMID 16804918 |
| Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit. |
| Rohrmoser M, Holzel M, Grimm T, Malamoussi A, Harasim T, Orban M, Pfisterer I, Gruber-Eber A, Kremmer E, Eick D. |
| Mol Cell Biol. 2007 May;27(10):3682-94. |
| PMID 17353269 |
| Citation |
| This paper should be referenced as such : |
| Killian, A ; Sesboüé, R |
| BOP1 (block of proliferation 1) |
| Atlas Genet Cytogenet Oncol Haematol. 2009;13(9):622-623. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/BOP1ID44348ch8q22.html |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:02:03 CEST 2017 |
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