RPL10: Ribosomal Protein L10 – A Key Player in Ribosome Biogenesis and Disease
Comprehensive genomic and proteomic overview of RPL10, including its role in ribosomopathies and cancer.
Gene Information Card
| Symbol | RPL10 |
|---|---|
| Full Name | Ribosomal Protein L10 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 6134 ncbi.nlm.nih.gov/gene/6134 |
| Ensembl ID | ENSG00000147403 |
| UniProt ID | P27635 |
| OMIM ID | 312173 |
| HGNC ID | 10300 |
| Aliases | L10, QM, DXS648, DXS648E, NOV, uL16 |
Description
RPL10 encodes ribosomal protein L10, a component of the 60S large ribosomal subunit. This protein is essential for ribosome biogenesis and protein synthesis. Mutations in RPL10 are associated with X-linked intellectual disability, autism spectrum disorder, and T-cell acute lymphoblastic leukemia (T-ALL). The protein also exhibits extraribosomal functions, including roles in cellular stress response and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Missense mutations (e.g., L206M, H213Q) impair ribosome assembly and translation fidelity | ClinVar, OMIM |
| T-cell acute lymphoblastic leukemia (T-ALL) | Recurrent missense mutations (e.g., L206M, R98S) drive aberrant ribosome function and leukemogenesis | COSMIC, PubMed |
| Autism spectrum disorder | RPL10 variants identified in patients, likely through disrupted protein synthesis in neurons | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.4 | High |
| Lymphoid tissue | 18.7 | Medium |
| Liver | 15.2 | Medium |
| Heart | 12.1 | Medium |
| Skeletal muscle | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.3 | High expression |
| K562 | 19.8 | High expression |
| Jurkat | 21.5 | High expression (T-cell line) |
| HeLa | 17.6 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| L206M | Missense | Recurrent in T-ALL | Alters ribosome assembly and translation; gain-of-function in leukemia |
| H213Q | Missense | Rare in intellectual disability | Impairs 60S subunit biogenesis; loss-of-function |
| R98S | Missense | Reported in T-ALL | Disrupts protein stability and ribosome function |
| c.173_174insA | Frameshift | Very rare | Loss-of-function; associated with severe intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Frameshift and some missense mutations (e.g., H213Q) reduce ribosome assembly and protein synthesis, leading to intellectual disability.
Gain of Function (GOF)
L206M mutation in T-ALL enhances translation of specific oncogenic mRNAs, promoting leukemogenesis.
Dominant Negative (DN)
Not clearly established; some missense variants may exert dominant-negative effects on ribosome function.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) | • cytoplasmic translation (GO:0002181) |
| • ribosome biogenesis (GO:0042254) |
Pathways
• Ribosome (KEGG: hsa03010)
• Eukaryotic translation initiation (Reactome: R-HSA-72649)
• Formation of the 60S ribosomal subunit (Reactome: R-HSA-6791226)
Protein Summary
Ribosomal protein L10 (uL16) is a 214-amino-acid component of the 60S large ribosomal subunit. It is highly conserved and plays a critical role in ribosome assembly, translation elongation, and quality control. Beyond the ribosome, RPL10 participates in tumor suppression and cellular stress responses. Mutations in RPL10 are linked to X-linked intellectual disability and T-ALL, highlighting its dual role in neurodevelopment and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL10L Knockout HEK293 Cell Line | EDJ-KQ9813 | Human | 140801 | Details Get a Quote |
| RPL10L Knockout HeLa Cell Line | EDJ-KQ58458 | Human | 140801 | Details Get a Quote |
| RPL10L Knockout A-549 Cell Line | EDJ-KQ66944 | Human | 140801 | Details Get a Quote |
| RPL10L Knockout HCT 116 Cell Line | EDJ-KQ75345 | Human | 140801 | Details Get a Quote |
