RPL35: Ribosomal Protein L35
A core component of the large ribosomal subunit involved in protein synthesis and linked to Diamond-Blackfan anemia
Gene Information Card
| Symbol | RPL35 |
|---|---|
| Full Name | Ribosomal Protein L35 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q33.3 |
| NCBI Gene ID | 11224 ncbi.nlm.nih.gov/gene/11224 |
| Ensembl ID | ENSG00000136942 |
| UniProt ID | P42766 |
| OMIM ID | 180468 |
| HGNC ID | 10344 |
| Aliases | L35, uL35 |
Description
RPL35 encodes ribosomal protein L35, a component of the 60S large ribosomal subunit. This protein is part of the ribosomal machinery that translates mRNA into protein. Mutations in RPL35 are associated with Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure syndrome characterized by red cell aplasia and physical anomalies. RPL35 is classified as a ribosomal protein gene and is involved in ribosome biogenesis and protein synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL35 impair ribosome assembly, leading to reduced translation efficiency and erythroid progenitor apoptosis. | PMID: 24675556; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Testis | 9.2 | Medium |
| Brain | 7.1 | Low |
| Liver | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 15.3 | High expression |
| HeLa (cervical carcinoma) | 11.0 | Medium expression |
| HEK293 (embryonic kidney) | 9.8 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94C>T (p.Arg32*) | Nonsense | Rare | Loss of function; associated with DBA |
| c.128_129del (p.Glu43fs) | Frameshift | Rare | Loss of function; associated with DBA |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with DBA |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficiency due to nonsense, frameshift, or start-loss mutations leads to reduced RPL35 protein levels, impairing ribosome biogenesis and causing Diamond-Blackfan anemia.
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 (GO:0003735) | • cytoplasmic translation (GO:0002181) |
| • cytosolic large ribosomal subunit (GO:0022625) | • translation (GO:0006412) |
Pathways
• R-HSA-156902 (Peptide chain elongation)
• R-HSA-72766 (Translation)
• R-HSA-975956 (Nonsense-Mediated Decay)
Protein Summary
Ribosomal protein L35 (uL35) is a 123-amino-acid protein that localizes to the 60S large ribosomal subunit. It is highly conserved across eukaryotes and plays a structural role in ribosome assembly and function. The protein contains a ribosomal L35e domain and is essential for efficient translation. Mutations causing haploinsufficiency lead to Diamond-Blackfan anemia.
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