RPL35A
Ribosomal Protein L35a: A Key Component of the Large Ribosomal Subunit
Gene Information Card
| Symbol | RPL35A |
|---|---|
| Full Name | Ribosomal Protein L35a |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 6165 ncbi.nlm.nih.gov/gene/6165 |
| Ensembl ID | ENSG00000182899 |
| UniProt ID | P18077 |
| OMIM ID | 180468 |
| HGNC ID | 10345 |
| Aliases | L35A, uL35 |
Description
RPL35A encodes ribosomal protein L35a, a component of the 60S large ribosomal subunit. This protein is essential for ribosome assembly and protein synthesis. Mutations in RPL35A are associated with Diamond-Blackfan anemia (DBA) and are implicated in 5q- syndrome, a subtype of myelodysplastic syndrome. The gene is located on chromosome 3q29 and is highly conserved across species.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL35A impair ribosome biogenesis, leading to reduced protein synthesis and erythroid progenitor cell apoptosis. | ClinVar, OMIM |
| 5q- syndrome | Haploinsufficiency of RPL35A due to deletion of chromosome 5q (though RPL35A is on 3q, the 5q- syndrome involves RPS14; RPL35A mutations are rare in MDS). | COSMIC, literature |
| Myelodysplastic syndrome | RPL35A mutations may contribute to MDS through defective ribosome function, though evidence is limited. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Heart | 18.5 | Medium |
| Kidney | 14.1 | Medium |
| Liver | 20.3 | Medium |
| Lung | 16.7 | Medium |
| Pancreas | 13.9 | Medium |
| Spleen | 19.4 | Medium |
| Testis | 22.1 | High |
| Thyroid | 17.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.3 | High expression |
| HEK293 | 22.8 | High expression |
| K562 | 19.7 | Medium expression |
| HepG2 | 21.4 | High expression |
| A549 | 18.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94C>T (p.Arg32Ter) | Nonsense | Rare in DBA | Loss of function, premature termination |
| c.175_176delAG (p.Arg59Glyfs*12) | Frameshift | Rare in DBA | Loss of function, truncated protein |
| c.284A>G (p.Tyr95Cys) | Missense | Rare in DBA | Likely loss of function, impaired ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RPL35A lead to haploinsufficiency, reducing ribosomal protein L35a levels and impairing 60S subunit assembly.
Gain of Function (GOF)
No gain-of-function mutations reported for RPL35A.
Dominant Negative (DN)
Dominant-negative effects are not established for RPL35A mutations; haploinsufficiency is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
| • ribosome biogenesis | • translation |
| • structural constituent of ribosome | • cytoplasmic translation |
| • rRNA processing |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis in eukaryotes
• rRNA processing in the nucleus and cytosol
Protein Summary
Ribosomal protein L35a (uL35) is a 110-amino-acid protein that forms part of the 60S large ribosomal subunit. It is involved in ribosome assembly and translation. The protein is highly conserved and expressed ubiquitously, with higher levels in tissues with active protein synthesis. Mutations cause Diamond-Blackfan anemia through defective ribosome biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
