RPL26L1: Ribosomal Protein L26 Like 1
A component of the large ribosomal subunit involved in protein synthesis and implicated in Diamond-Blackfan anemia and cancer.
Gene Information Card
| Symbol | RPL26L1 |
|---|---|
| Full Name | Ribosomal Protein L26 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 51121 ncbi.nlm.nih.gov/gene/51121 |
| Ensembl ID | ENSG00000137285 |
| UniProt ID | Q9UNX3 |
| OMIM ID | 611718 |
| HGNC ID | 18599 |
| Aliases | RPL26P1, L26L1 |
Description
RPL26L1 encodes a protein that is a component of the large 60S ribosomal subunit. It is a paralog of RPL26 and is involved in the initiation and elongation phases of protein synthesis. Mutations in this gene have been associated with Diamond-Blackfan anemia (DBA) and are implicated in various cancers due to dysregulated ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations impair ribosome assembly, leading to erythroid hypoplasia | ClinVar, OMIM |
| Colorectal cancer | Overexpression or copy number gain may promote tumor growth via enhanced translation | COSMIC, NCBI |
| Breast cancer | Altered expression linked to poor prognosis and ribosome stress response | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 12.3 | Moderate expression |
| K562 | 10.5 | Moderate expression |
| MCF7 | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Loss of function; associated with Diamond-Blackfan anemia |
| c.346C>T (p.Arg116*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, and start-loss mutations impair ribosomal protein function, leading to ribosome biogenesis defects and Diamond-Blackfan anemia.
Gain of Function (GOF)
Not reported for RPL26L1.
Dominant Negative (DN)
Not reported for RPL26L1.
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) |
Pathways
• Ribosome (KEGG hsa03010)
• Eukaryotic translation initiation (Reactome R-HSA-72649)
• Eukaryotic translation elongation (Reactome R-HSA-156842)
Protein Summary
RPL26L1 is a 145-amino acid protein (16.8 kDa) that localizes to the cytoplasm and nucleolus. It is a component of the 60S ribosomal subunit and is essential for efficient mRNA translation. The protein contains a ribosomal protein L26 domain and interacts with rRNA and other ribosomal proteins. Post-translational modifications include phosphorylation, which may regulate ribosome assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL26L1 Knockout HEK293 Cell Line | EDJ-KQ51283 | Human | 51121 | Details Get a Quote |
| RPL26L1 Knockout HeLa Cell Line | EDJ-KQ56231 | Human | 51121 | Details Get a Quote |
| RPL26L1 Knockout A-549 Cell Line | EDJ-KQ64721 | Human | 51121 | Details Get a Quote |
| RPL26L1 Knockout HCT 116 Cell Line | EDJ-KQ73166 | Human | 51121 | Details Get a Quote |
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