Aliases for BOP1 Gene

Aliases for BOP1 Gene

  • BOP1 Ribosomal Biogenesis Factor 2 3 5
  • Ribosome Biogenesis Protein BOP1 3 4
  • Block Of Proliferation 1 2 3
  • KIAA0124 2 4
  • Block Of Proliferation 1 Protein 4
  • BOP1 5

External Ids for BOP1 Gene

Previous GeneCards Identifiers for BOP1 Gene

  • GC08M143100
  • GC08M145571
  • GC08M145090
  • GC08M145422
  • GC08M145490
  • GC08M145456
  • GC08M140600
  • GC08M145486

Summaries for BOP1 Gene

GeneCards Summary for BOP1 Gene

BOP1 (BOP1 Ribosomal Biogenesis Factor) is a Protein Coding gene. Diseases associated with BOP1 include Diamond-Blackfan Anemia. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include ribonucleoprotein complex binding.

UniProtKB/Swiss-Prot Summary for BOP1 Gene

  • Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.

Gene Wiki entry for BOP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BOP1 Gene

Genomics for BOP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BOP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J144290 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 612 -1.5 -1451 7 CREB1 ZNF629 RFX1 LEF1 IKZF1 ZNF692 POLR2A BACH1 TARDBP ZHX2 BOP1 HSF1 DGAT1 ENSG00000254690 TONSL-AS1 SCX PARP10 SPATC1 piR-57815-003
GH08J144322 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 -33.7 -33701 5.7 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 REST TFE3 SIX5 DGAT1 BOP1 SHARPIN ZNF707 LINC02878 KIFC2 lnc-SCRT1-1 HSF1
GH08J144310 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 -23.7 -23726 3.1 HNRNPL CTCF LEF1 IKZF1 NFKBIZ JUND ZIC2 RBFOX2 PKNOX1 PATZ1 ENSG00000254690 BOP1 VPS28 MIR6848 DGAT1 HSF1
GH08J144306 Enhancer 0.8 Ensembl ENCODE dbSUPER 15.8 -15.7 -15670 1.4 GABPA ZFHX2 ZNF664 ETV4 REST ELF3 piR-42535 BOP1 piR-57815-003 HSF1 DGAT1
GH08J144319 Enhancer 1 Ensembl ENCODE dbSUPER 12 -28.4 -28389 2.9 HNRNPL PRDM10 ZIC2 RBFOX2 HDAC1 CEBPB MGA POLR2A MNT RBM22 BOP1 TMEM249 lnc-SCRT1-1 DGAT1 HSF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BOP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BOP1

Top Transcription factor binding sites by QIAGEN in the BOP1 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for BOP1 Gene

Genomic Locations for BOP1 Gene
chr8:144,262,045-144,291,438
(GRCh38/hg38)
Size:
29,394 bases
Orientation:
Minus strand
chr8:145,486,055-145,515,120
(GRCh37/hg19)
Size:
29,066 bases
Orientation:
Minus strand

Genomic View for BOP1 Gene

Genes around BOP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BOP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BOP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BOP1 Gene

Proteins for BOP1 Gene

  • Protein details for BOP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14137-BOP1_HUMAN
    Recommended name:
    Ribosome biogenesis protein BOP1
    Protein Accession:
    Q14137
    Secondary Accessions:
    • Q969Z6
    • Q96IS8
    • Q96Q25
    • Q9BSA7
    • Q9BVM0

    Protein attributes for BOP1 Gene

    Size:
    746 amino acids
    Molecular mass:
    83630 Da
    Quaternary structure:
    • Component of the PeBoW complex, composed of BOP1, PES1 and WDR12 (PubMed:16043514, PubMed:16738141, PubMed:17189298, PubMed:17353269). The complex is held together by BOP1, which interacts with PES1 via its N-terminal domain and with WDR12 via a high-affinity interaction between the seven-bladed beta-propeller domains of the 2 proteins. The NOP7 complex associates with the 66S pre-ribosome (By similarity). The PeBoW complex associates with DDX27, BOP1 interacts directly with DDX27 (PubMed:25825154).

    Alternative splice isoforms for BOP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BOP1 Gene

Post-translational modifications for BOP1 Gene

  • Ubiquitination at Lys339 and Lys391
  • Modification sites at PhosphoSitePlus

Other Protein References for BOP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for BOP1
  • Boster Bio Antibodies for BOP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for BOP1

No data available for DME Specific Peptides for BOP1 Gene

Domains & Families for BOP1 Gene

Gene Families for BOP1 Gene

Protein Domains for BOP1 Gene

Suggested Antigen Peptide Sequences for BOP1 Gene

GenScript: Design optimal peptide antigens:
  • Block of proliferation 1 protein (BOP1_HUMAN)
  • BOP1 protein (Q4G0D9_HUMAN)
  • BOP1 protein (Q6DKJ9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14137

UniProtKB/Swiss-Prot:

BOP1_HUMAN :
  • Belongs to the WD repeat BOP1/ERB1 family.
Family:
  • Belongs to the WD repeat BOP1/ERB1 family.
genes like me logo Genes that share domains with BOP1: view

Function for BOP1 Gene

Molecular function for BOP1 Gene

UniProtKB/Swiss-Prot Function:
Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.
UniProtKB/Swiss-Prot Induction:
By MYC.

Phenotypes From GWAS Catalog for BOP1 Gene

Gene Ontology (GO) - Molecular Function for BOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 16043514
GO:0043021 ribonucleoprotein complex binding IBA 21873635
genes like me logo Genes that share ontologies with BOP1: view
genes like me logo Genes that share phenotypes with BOP1: view

Animal Model Products

CRISPR Products

miRNA for BOP1 Gene

miRTarBase miRNAs that target BOP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BOP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BOP1 Gene

Localization for BOP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BOP1 Gene

Nucleus, nucleolus. Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BOP1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005730 nucleolus IDA --
GO:0030687 preribosome, large subunit precursor IEA,IBA 21873635
GO:0070545 PeBoW complex IBA,IDA 16043514
genes like me logo Genes that share ontologies with BOP1: view

Pathways & Interactions for BOP1 Gene

genes like me logo Genes that share pathways with BOP1: view

Gene Ontology (GO) - Biological Process for BOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IMP 24120868
GO:0000448 cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA --
GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA,IMP 17353269
GO:0000466 maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA --
GO:0006364 rRNA processing IEA,TAS --
genes like me logo Genes that share ontologies with BOP1: view

No data available for SIGNOR curated interactions for BOP1 Gene

Drugs & Compounds for BOP1 Gene

No Compound Related Data Available

Transcripts for BOP1 Gene

mRNA/cDNA for BOP1 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BOP1

Alternative Splicing Database (ASD) splice patterns (SP) for BOP1 Gene

No ASD Table

Relevant External Links for BOP1 Gene

GeneLoc Exon Structure for
BOP1

Expression for BOP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BOP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lymph (Hematopoietic System)

mRNA differential expression in normal tissues according to GTEx for BOP1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for BOP1 Gene

This gene is overexpressed in Lung (14.1), Breast (8.7), Blymphocyte (7.5), and Liver (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BOP1 Gene



Protein tissue co-expression partners for BOP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BOP1

SOURCE GeneReport for Unigene cluster for BOP1 Gene:

Hs.645279

Evidence on tissue expression from TISSUES for BOP1 Gene

  • Nervous system(4.2)
  • Liver(4.2)
  • Muscle(4.2)
  • Pancreas(4.1)
  • Eye(4.1)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with BOP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BOP1 Gene

Orthologs for BOP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BOP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BOP1 30
  • 95.56 (n)
Cow
(Bos Taurus)
Mammalia BOP1 30
  • 85.5 (n)
Dog
(Canis familiaris)
Mammalia BOP1 30
  • 84.31 (n)
Mouse
(Mus musculus)
Mammalia Bop1 30 17
  • 82.9 (n)
Rat
(Rattus norvegicus)
Mammalia Bop1 30
  • 82.44 (n)
Chicken
(Gallus gallus)
Aves BOP1 30
  • 76.81 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bop1 30
  • 70.43 (n)
Str.1855 30
African clawed frog
(Xenopus laevis)
Amphibia bop1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii bop1 30
  • 70.92 (n)
wufc64d06 30
African malaria mosquito
(Anopheles gambiae)
Insecta BOP1_ANOGA 30
  • 59.81 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5033 30
  • 59.41 (n)
EG:52C10.1 32
  • 53 (a)
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y48B6A.1 30
  • 54.3 (n)
Y48B6A.1 32
  • 46 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABR101C 30
  • 51.94 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F26653g 30
  • 46.26 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERB1 30
  • 46.24 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G40360 30
  • 48.24 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0435400 30
  • 49.89 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03321 30
  • 53.27 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC4F6.13c 30
  • 46.73 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3764 30
Species where no ortholog for BOP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BOP1 Gene

ENSEMBL:
Gene Tree for BOP1 (if available)
TreeFam:
Gene Tree for BOP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BOP1: view image

Paralogs for BOP1 Gene

(2) SIMAP similar genes for BOP1 Gene using alignment to 9 proteins:

  • BOP1_HUMAN
  • A8K3R2_HUMAN
  • B2RDN4_HUMAN
  • B4DEN9_HUMAN
  • E9PIF8_HUMAN
  • E9PP64_HUMAN
  • E9PRN9_HUMAN
  • Q4G0D9_HUMAN
  • Q6DKJ9_HUMAN
genes like me logo Genes that share paralogs with BOP1: view

No data available for Paralogs for BOP1 Gene

Variants for BOP1 Gene

Additional dbSNP identifiers (rs#s) for BOP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BOP1 Gene

Variant ID Type Subtype PubMed ID
dgv12434n54 CNV loss 21841781
esv2253218 CNV deletion 18987734
esv2675243 CNV deletion 23128226
esv2738055 CNV deletion 23290073
esv2738057 CNV deletion 23290073
esv2738058 CNV deletion 23290073
esv2738059 CNV deletion 23290073
esv2738060 CNV deletion 23290073
esv29857 CNV gain 19812545
esv3544397 CNV deletion 23714750
esv3547 CNV loss 18987735
nsv1025071 CNV gain 25217958
nsv1112185 CNV deletion 24896259
nsv1112480 CNV deletion 24896259
nsv1130165 CNV deletion 24896259
nsv1152990 CNV deletion 26484159
nsv396397 CNV deletion 16902084
nsv428208 CNV gain 18775914
nsv470249 CNV loss 18288195
nsv515809 CNV gain+loss 19592680
nsv824804 CNV gain 20364138
nsv950822 CNV deletion 24416366

Variation tolerance for BOP1 Gene

Gene Damage Index Score: 0.21; 4.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BOP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BOP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BOP1 Gene

Disorders for BOP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BOP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
diamond-blackfan anemia
  • diamond-blackfan anemia 1
- elite association - COSMIC cancer census association via MalaCards
Search BOP1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with BOP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BOP1 Gene

Publications for BOP1 Gene

  1. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4
  2. DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex. (PMID: 25825154) Kellner M … Eick D (Experimental cell research 2015) 3 4
  3. The 5S RNP couples p53 homeostasis to ribosome biogenesis and nucleolar stress. (PMID: 24120868) Sloan KE … Watkins NJ (Cell reports 2013) 3 4
  4. Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit. (PMID: 17353269) Rohrmoser M … Eick D (Molecular and cellular biology 2007) 3 4
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4

Products for BOP1 Gene

Sources for BOP1 Gene