Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

BOP1 (block of proliferation 1)

Written2008-10Audrey Killian, Richard Sesboüé
INSERM U614, Faculté de Médecine-Pharmacie de Rouen, 22 boulevard Gambetta, 76183 ROUEN Cedex 1, France

(Note : for Links provided by Atlas : click)


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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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.


  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.


  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


Note None described to date.

Implicated in

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.



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


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 :

External links

HGNC (Hugo)BOP1   15519
Entrez_Gene (NCBI)BOP1  23246  block of proliferation 1
GeneCards (Weizmann)BOP1
Ensembl hg19 (Hinxton)ENSG00000261236 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000261236 [Gene_View]  chr8:144262046-144291438 [Contig_View]  BOP1 [Vega]
ICGC DataPortalENSG00000261236
TCGA cBioPortalBOP1
AceView (NCBI)BOP1
Genatlas (Paris)BOP1
SOURCE (Princeton)BOP1
Genetics Home Reference (NIH)BOP1
Genomic and cartography
GoldenPath hg38 (UCSC)BOP1  -     chr8:144262046-144291438 -  8q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BOP1  -     8q24.3   [Description]    (hg19-Feb_2009)
EnsemblBOP1 - 8q24.3 [CytoView hg19]  BOP1 - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBIBOP1 [Mapview hg19]  BOP1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB060694 AI937005 AK024840 AK290677 AK293719
RefSeq transcript (Entrez)NM_015201
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BOP1
Cluster EST : UnigeneHs.645279 [ NCBI ]
CGAP (NCI)Hs.645279
Alternative Splicing GalleryENSG00000261236
Gene ExpressionBOP1 [ NCBI-GEO ]   BOP1 [ EBI - ARRAY_EXPRESS ]   BOP1 [ SEEK ]   BOP1 [ MEM ]
Gene Expression Viewer (FireBrowse)BOP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23246
GTEX Portal (Tissue expression)BOP1
Human Protein AtlasENSG00000261236-BOP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14137   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14137  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14137
Splice isoforms : SwissVarQ14137
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)BOP1/Erb1    BOP1_N_dom    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)BOP1NT (PF08145)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08145    pfam00400   
Domain families : Smart (EMBL)BOP1NT (SM01035)  WD40 (SM00320)  
Conserved Domain (NCBI)BOP1
DMDM Disease mutations23246
Blocks (Seattle)BOP1
Human Protein Atlas [tissue]ENSG00000261236-BOP1 [tissue]
Peptide AtlasQ14137
IPIIPI00028955   IPI00741996   IPI00979937   IPI00978873   
Protein Interaction databases
IntAct (EBI)Q14137
Ontologies - Pathways
Ontology : AmiGOcleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  rRNA processing  cell proliferation  intracellular ribonucleoprotein complex  preribosome, large subunit precursor  ribosome biogenesis  ribosome biogenesis  ribonucleoprotein complex binding  regulation of cell cycle  PeBoW complex  
Ontology : EGO-EBIcleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  rRNA processing  cell proliferation  intracellular ribonucleoprotein complex  preribosome, large subunit precursor  ribosome biogenesis  ribosome biogenesis  ribonucleoprotein complex binding  regulation of cell cycle  PeBoW complex  
REACTOMEQ14137 [protein]
REACTOME PathwaysR-HSA-6791226 [pathway]   
NDEx NetworkBOP1
Atlas of Cancer Signalling NetworkBOP1
Wikipedia pathwaysBOP1
Orthology - Evolution
GeneTree (enSembl)ENSG00000261236
Phylogenetic Trees/Animal Genes : TreeFamBOP1
Homologs : HomoloGeneBOP1
Homology/Alignments : Family Browser (UCSC)BOP1
Gene fusions - Rearrangements
Fusion : MitelmanBOP1/CYHR1 [8q24.3/8q24.3]  
Fusion : MitelmanBOP1/NIPAL2 [8q24.3/8q22.2]  [t(8;8)(q22;q24)]  
Fusion: TCGA_MDACCBOP1 8q24.3 CYHR1 8q24.3 BRCA
Fusion: TCGA_MDACCBOP1 8q24.3 NIPAL2 8q22.2 LGG
Tumor Fusion PortalBOP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBOP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BOP1
Exome Variant ServerBOP1
ExAC (Exome Aggregation Consortium)ENSG00000261236
GNOMAD BrowserENSG00000261236
Genetic variants : HAPMAP23246
Genomic Variants (DGV)BOP1 [DGVbeta]
DECIPHERBOP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBOP1 
ICGC Data PortalBOP1 
TCGA Data PortalBOP1 
Broad Tumor PortalBOP1
OASIS PortalBOP1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDBOP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BOP1
DgiDB (Drug Gene Interaction Database)BOP1
DoCM (Curated mutations)BOP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BOP1 (select a term)
NCG5 (London)BOP1
Cancer3DBOP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry BOP1
NextProtQ14137 [Medical]
Target ValidationBOP1
Huge Navigator BOP1 [HugePedia]
snp3D : Map Gene to Disease23246
BioCentury BCIQBOP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23246
Chemical/Pharm GKB GenePA25398
Clinical trialBOP1
canSAR (ICR)BOP1 (select the gene name)
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:45:28 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us