BOP1
BOP1 Ribosomal Biogenesis Factor
Gene Information Card
| Symbol | BOP1 |
|---|---|
| Full Name | BOP1 Ribosomal Biogenesis Factor |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 23246 ncbi.nlm.nih.gov/gene/23246 |
| Ensembl ID | ENSG00000120907 |
| UniProt ID | Q14137 |
| OMIM ID | 610596 |
| HGNC ID | 15519 |
| Aliases | KIAA0124, MGC131819, MGC138207, MGC138209 |
Description
BOP1 (BOP1 Ribosomal Biogenesis Factor) encodes a nucleolar protein essential for the processing of pre-ribosomal RNA and assembly of the 60S ribosomal subunit. It is involved in cell cycle progression and proliferation. Overexpression or dysregulation of BOP1 has been implicated in various cancers, including colorectal and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | BOP1 overexpression promotes rRNA synthesis and ribosome biogenesis, driving cell proliferation. | PMID: 21502514 |
| Breast Cancer | BOP1 amplification and overexpression correlate with poor prognosis and increased tumor growth. | PMID: 23555291 |
| Hepatocellular Carcinoma | BOP1 upregulation enhances ribosome biogenesis and cell cycle progression. | PMID: 27323850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Lymph node | 12.8 | High |
| Bone marrow | 11.5 | High |
| Brain | 6.3 | Medium |
| Liver | 5.1 | Medium |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical adenocarcinoma |
| HEK293 | 13.2 | Embryonic kidney |
| MCF7 | 11.8 | Breast cancer |
| HCT116 | 10.9 | Colorectal carcinoma |
| HepG2 | 9.7 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.1% | Unknown functional impact |
| c.1435G>A (p.Gly479Arg) | Missense | <0.1% | Unknown functional impact |
| c.1666C>T (p.Arg556Cys) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in BOP1.
Gain of Function (GOF)
Overexpression and amplification observed in cancers suggest a potential gain-of-function role.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462) |
| • RNA binding (GO:0003723) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleolus (Reactome: R-HSA-6791226)
Protein Summary
BOP1 is a 747-amino acid nucleolar protein that belongs to the WD40 repeat-containing family. It is a core component of the PeBoW complex (Pes1, BOP1, WDR12) required for 60S ribosomal subunit assembly. BOP1 facilitates endonucleolytic cleavage of pre-rRNA at site C2 and subsequent maturation of 28S and 5.8S rRNAs. Its expression is cell cycle-regulated and peaks in S phase. Dysregulation of BOP1 leads to aberrant ribosome biogenesis and has been linked to oncogenesis.
Related Services
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