RRS1 Gene - Ribosome Biogenesis Regulator 1 Homolog
Essential regulator of ribosomal RNA processing and 60S ribosomal subunit assembly
Gene Information Card
| Symbol | RRS1 |
|---|---|
| Full Name | Ribosome Biogenesis Regulator 1 Homolog |
| Gene Type | Protein-coding |
| Chromosomal Location | 8q13.1 |
| NCBI Gene ID | 23212 ncbi.nlm.nih.gov/gene/23212 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q15050 |
| OMIM ID | 618310 |
| HGNC ID | 17083 |
| Aliases | RRS1 ribosome biogenesis factor, CGI-08, MGC117282 |
Description
RRS1 encodes a nuclear protein essential for ribosome biogenesis. It participates in the processing of pre-ribosomal RNA and the assembly of the 60S large ribosomal subunit. The protein interacts with the N-terminal domain of nucleophosmin (NPM1) and is required for the export of the 60S subunit from the nucleus to the cytoplasm. RRS1 is conserved from yeast to humans and is critical for cell growth and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of RRS1 promotes cell proliferation and tumor growth; knockdown reduces proliferation and induces apoptosis in breast cancer cell lines. | PMID: 29367642 |
| Hepatocellular Carcinoma | RRS1 is upregulated in HCC tissues; silencing RRS1 inhibits cell proliferation and invasion via regulation of the PI3K/AKT pathway. | PMID: 31065109 |
| Colorectal Cancer | RRS1 overexpression correlates with poor prognosis; promotes cell cycle progression and metastasis. | PMID: 31591469 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Lymph node | 9.8 | Medium |
| Bone marrow | 8.2 | Medium |
| Spleen | 7.6 | Medium |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cells; high expression |
| HeLa | 12.8 | Cervical cancer cells; moderate-high |
| MCF7 | 10.5 | Breast cancer cells; moderate |
| HepG2 | 9.1 | Hepatocellular carcinoma cells; moderate |
| K562 | 7.3 | Leukemia cells; moderate-low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% (gnomAD) | Unknown functional effect; rare population variant |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% (gnomAD) | Unknown functional effect; rare population variant |
| c.1A>G (p.Met1Val) | Start loss | <0.01% (gnomAD) | Likely loss of function; may affect translation initiation |
Mutation functional classification
Loss of Function (LOF)
Start loss variants (e.g., p.Met1Val) likely result in loss of protein function due to failure of translation initiation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RRS1.
Dominant Negative (DN)
No dominant-negative mutations reported for RRS1.
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 nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
RRS1 is a 28.5 kDa nuclear protein (250 amino acids) localized to the nucleolus. It contains a conserved N-terminal domain that mediates interaction with NPM1 and other ribosome assembly factors. The protein is essential for the maturation of the 60S ribosomal subunit and its nuclear export. RRS1 expression is cell cycle-regulated and peaks in S phase. Overexpression is observed in multiple cancers and correlates with poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRRS1L Knockout HEK293 Cell Line | EDJ-KQ8124 | Human | 23732 | Details Get a Quote |
| FRRS1 Knockout HEK293 Cell Line | EDJ-KQ13523 | Human | 391059 | Details Get a Quote |
| FRRS1 Knockout A-549 Cell Line | EDJ-KQ43127 | Human | 391059 | Details Get a Quote |
| FRRS1 Knockout HCT 116 Cell Line | EDJ-KQ43128 | Human | 391059 | Details Get a Quote |
| FRRS1 Knockout HeLa Cell Line | EDJ-KQ43129 | Human | 391059 | Details Get a Quote |
| FRRS1L Knockout HeLa Cell Line | EDJ-KQ55798 | Human | 23732 | Details Get a Quote |
| FRRS1L Knockout A-549 Cell Line | EDJ-KQ64294 | Human | 23732 | Details Get a Quote |
| FRRS1L Knockout HCT 116 Cell Line | EDJ-KQ72743 | Human | 23732 | Details Get a Quote |
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