BMS1 Ribosome Biogenesis Factor
A key regulator of ribosomal RNA processing and cell proliferation
Gene Information Card
| Symbol | BMS1 |
|---|---|
| Full Name | BMS1 ribosome biogenesis factor |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.21 |
| NCBI Gene ID | 9790 ncbi.nlm.nih.gov/gene/9790 |
| Ensembl ID | ENSG00000165702 |
| UniProt ID | Q14692 |
| OMIM ID | 611448 |
| HGNC ID | 1373 |
| Aliases | BMS1L, MGC:133155 |
Description
BMS1 encodes a protein involved in ribosome biogenesis, specifically in the processing of pre-ribosomal RNA and the assembly of the small ribosomal subunit. It is essential for cell growth and proliferation, and its dysregulation has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ribosome biogenesis leading to uncontrolled cell proliferation | COSMIC database reports mutations in multiple cancer types |
| Hepatocellular carcinoma | Overexpression of BMS1 promotes tumor growth | PMID: 31209456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Brain | 4.3 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression |
| HEK 293 | 16.2 | High expression |
| K562 | 14.0 | Medium expression |
| A549 | 12.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% | Unknown functional impact |
| c.567delA (p.Lys189fs) | Frameshift | 0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated, non-functional protein.
Gain of Function (GOF)
Not well documented; missense variants may alter protein activity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • ribosome biogenesis | • rRNA processing |
| • nucleolus | • RNA binding |
| • protein binding |
Pathways
• Ribosome biogenesis in eukaryotes
• rRNA processing
Protein Summary
The BMS1 protein is a 130 kDa nucleolar protein that functions as a GTPase. It is required for the cleavage of pre-rRNA at site A2, a critical step in the maturation of the 18S rRNA and assembly of the small ribosomal subunit. Its activity is essential for cell cycle progression and proliferation.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
