RMP24 (Ribosome Maturation Protein 24)
A component of the ribosomal large subunit assembly machinery
Gene Information Card
| Symbol | RMP24 |
|---|---|
| Full Name | Ribosome Maturation Protein 24 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9Y3A5 |
| OMIM ID | 617802 |
| HGNC ID | 30377 |
| Aliases | C1orf27, MGC10854 |
Description
RMP24 encodes a protein involved in the late stages of ribosome large subunit (60S) assembly. It is a component of the pre-60S ribosomal particle and facilitates the export of the subunit from the nucleus to the cytoplasm. The protein is conserved across eukaryotes and is essential for proper ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Bone marrow | 8.5 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 10.5 | Medium expression |
| HepG2 | 8.0 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data:
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • ribosomal large subunit assembly (GO:0000027) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
Protein Summary
RMP24 is a 24 kDa protein localized to the nucleolus. It binds to the pre-60S ribosomal particle and is required for the maturation and nuclear export of the large ribosomal subunit. The protein contains a conserved domain of unknown function (DUF) and interacts with other ribosome assembly factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||