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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)

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

Nomenclature
HGNC (Hugo)BOP1   15519
Cards
AtlasBOP1ID44348ch8q22
Entrez_Gene (NCBI)BOP1  23246  block of proliferation 1
Aliases
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
WikiGenes23246
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]
OMIM610596   
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23246
GTEX Portal (Tissue expression)BOP1
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
PhosPhoSitePlusQ14137
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
SuperfamilyQ14137
Human Protein AtlasENSG00000261236
Peptide AtlasQ14137
HPRD16558
IPIIPI00028955   IPI00741996   IPI00979937   IPI00978873   
Protein Interaction databases
DIP (DOE-UCLA)Q14137
IntAct (EBI)Q14137
FunCoupENSG00000261236
BioGRIDBOP1
STRING (EMBL)BOP1
ZODIACBOP1
Ontologies - Pathways
QuickGOQ14137
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
OrthoDB23246
GeneTree (enSembl)ENSG00000261236
Phylogenetic Trees/Animal Genes : TreeFamBOP1
HOVERGENQ14137
HOGENOMQ14137
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: TCGABOP1 8q24.3 CYHR1 8q24.3 BRCA
Fusion: TCGABOP1 8q24.3 NIPAL2 8q22.2 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBOP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BOP1
dbVarBOP1
ClinVarBOP1
1000_GenomesBOP1 
Exome Variant ServerBOP1
ExAC (Exome Aggregation Consortium)BOP1 (select the gene name)
Genetic variants : HAPMAP23246
Genomic Variants (DGV)BOP1 [DGVbeta]
DECIPHERBOP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBOP1 
Mutations
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)
intoGenBOP1
NCG5 (London)BOP1
Cancer3DBOP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610596   
Orphanet
MedgenBOP1
Genetic Testing Registry BOP1
NextProtQ14137 [Medical]
TSGene23246
GENETestsBOP1
Target ValidationBOP1
Huge Navigator BOP1 [HugePedia]
snp3D : Map Gene to Disease23246
BioCentury BCIQBOP1
ClinGenBOP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23246
Chemical/Pharm GKB GenePA25398
Clinical trialBOP1
Miscellaneous
canSAR (ICR)BOP1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBOP1
EVEXBOP1
GoPubMedBOP1
iHOPBOP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 11:57:37 CEST 2017

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