RPL10L
Ribosomal Protein L10 Like
Gene Information Card
| Symbol | RPL10L |
|---|---|
| Full Name | Ribosomal Protein L10 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 140801 ncbi.nlm.nih.gov/gene/140801 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q96L21 |
| OMIM ID | 612844 |
| HGNC ID | 19840 |
| Aliases | RPL10L1, RPL10L2 |
Description
RPL10L (Ribosomal Protein L10 Like) is a protein-coding gene located on chromosome 14q21.3. It encodes a component of the large 60S ribosomal subunit, involved in protein synthesis. The gene is specifically expressed in testis and is associated with spermatogenesis. Mutations in RPL10L have been linked to male infertility and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss of function due to mutations disrupts ribosomal assembly in testis, impairing sperm production | ClinVar, OMIM |
| Prostate cancer | Altered expression may contribute to tumorigenesis via dysregulated translation | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Brain | 0.5 | Low |
| Liver | 0.2 | Low |
| Heart | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 30.2 | High expression |
| HeLa (cervical cancer) | 0.8 | Low expression |
| HepG2 (liver cancer) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.217C>T (p.Arg73Ter) | Nonsense | <0.01% | Premature stop, loss of function |
| c.346G>A (p.Gly116Ser) | Missense | 0.02% | Potential impact on ribosomal assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg73Ter) lead to truncated protein and loss of ribosomal function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation |
| • ribosome biogenesis | • cytoplasmic large ribosomal subunit |
Pathways
• Eukaryotic translation initiation
• Ribosome (KEGG hsa03010)
Protein Summary
RPL10L encodes a 214-amino acid protein (UniProt Q96L21) that is a component of the large 60S ribosomal subunit. It is highly expressed in testis and essential for spermatogenesis. The protein shares homology with RPL10 but has a testis-specific expression pattern. Structural analysis indicates it participates in ribosomal RNA binding and translation elongation.
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 |
