RPL26: Ribosomal Protein L26
A core component of the large ribosomal subunit involved in translation and linked to Diamond-Blackfan anemia and cancer susceptibility.
Gene Information Card
| Symbol | RPL26 |
|---|---|
| Full Name | Ribosomal Protein L26 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 6154 ncbi.nlm.nih.gov/gene/6154 |
| Ensembl ID | ENSG00000161970 |
| UniProt ID | P61254 |
| OMIM ID | 603702 |
| HGNC ID | 10327 |
| Aliases | DBA11, L26, eL26 |
Description
RPL26 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the L26E family of ribosomal proteins and is involved in the initiation of translation and ribosome biogenesis. Mutations in RPL26 are associated with Diamond-Blackfan anemia 11 (DBA11), a congenital bone marrow failure syndrome characterized by red cell aplasia and increased cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia 11 (DBA11) | Loss-of-function mutations in RPL26 impair ribosome assembly and translation, leading to defective erythropoiesis and bone marrow failure. | OMIM #603702; ClinVar; PMID: 24675556 |
| Colorectal cancer | RPL26 overexpression or mutation may promote tumorigenesis through altered translation of oncogenes or tumor suppressors. | COSMIC; PMID: 22962438 |
| Breast cancer | RPL26 expression changes are observed in breast cancer, potentially affecting p53 translation and cell cycle regulation. | COSMIC; PMID: 22962438 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain (cerebellum) | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Liver | 14.1 | Medium |
| Lung | 11.3 | Medium |
| Pancreas | 9.7 | Low |
| Spleen | 13.0 | Medium |
| Testis | 16.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK293 | 13.8 | Embryonic kidney cell line |
| K562 | 15.1 | Leukemia cell line |
| MCF7 | 12.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function; associated with DBA11 |
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function; associated with DBA11 |
| c.95G>A (p.Arg32Gln) | Missense | Rare | Impaired ribosome assembly; DBA11 |
| c.148C>T (p.Arg50*) | Nonsense | Rare | Premature stop, loss of function; DBA11 |
Mutation functional classification
Loss of Function (LOF)
Most DBA11-associated mutations are loss-of-function, leading to haploinsufficiency of RPL26 and impaired ribosome biogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPL26.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by disrupting ribosome assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) | • ribosome biogenesis (GO:0042254) |
| • cytoplasmic translation (GO:0002181) |
Pathways
• Ribosome (KEGG: hsa03010)
• Eukaryotic translation initiation (Reactome: R-HSA-72613)
• Formation of the 60S ribosomal subunit (Reactome: R-HSA-6791226)
Protein Summary
Ribosomal protein L26 (RPL26) is a 145-amino-acid protein (16.5 kDa) that localizes to the cytoplasm and nucleolus. It is a component of the 60S large ribosomal subunit, where it interacts with rRNA and other ribosomal proteins to facilitate translation. RPL26 also has extraribosomal functions, including regulation of p53 translation by binding to the 5' UTR of TP53 mRNA, thereby influencing cell cycle arrest and apoptosis. Mutations in RPL26 cause Diamond-Blackfan anemia 11, and altered expression is implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL26 Knockout HEK293 Cell Line | EDJ-KQ50580 | Human | 6154 | Details Get a Quote |
| RPL26L1 Knockout HEK293 Cell Line | EDJ-KQ51283 | Human | 51121 | Details Get a Quote |
| RPL26 Knockout HeLa Cell Line | EDJ-KQ54348 | Human | 6154 | Details Get a Quote |
| RPL26L1 Knockout HeLa Cell Line | EDJ-KQ56231 | Human | 51121 | Details Get a Quote |
| RPL26 Knockout A-549 Cell Line | EDJ-KQ62844 | Human | 6154 | Details Get a Quote |
| RPL26L1 Knockout A-549 Cell Line | EDJ-KQ64721 | Human | 51121 | Details Get a Quote |
| RPL26 Knockout HCT 116 Cell Line | EDJ-KQ71310 | Human | 6154 | Details Get a Quote |
| RPL26L1 Knockout HCT 116 Cell Line | EDJ-KQ73166 | Human | 51121 | Details Get a Quote |
