RPL36: Ribosomal Protein L36 - A Core Component of the Large Ribosomal Subunit
Essential for protein synthesis and implicated in ribosomopathies and cancer
Gene Information Card
| Symbol | RPL36 |
|---|---|
| Full Name | Ribosomal Protein L36 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 25873 ncbi.nlm.nih.gov/gene/25873 |
| Ensembl ID | ENSG00000130255 |
| UniProt ID | Q9Y3U8 |
| OMIM ID | 617894 |
| HGNC ID | 10358 |
| Aliases | L36, MGC88190 |
Description
RPL36 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the L36E family of ribosomal proteins and is essential for ribosome assembly and translation initiation. RPL36 is located in the cytoplasm and nucleolus. Mutations and altered expression of RPL36 have been associated with Diamond-Blackfan anemia and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL36 impair ribosome biogenesis, leading to defective erythropoiesis | ClinVar; PMID: 24675556 |
| Colorectal cancer | Overexpression of RPL36 promotes cell proliferation and tumor growth | COSMIC; PMID: 29187737 |
| Hepatocellular carcinoma | Upregulation of RPL36 correlates with poor prognosis and increased metastasis | COSMIC; PMID: 30594937 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 18.5 | High |
| Kidney | 15.2 | High |
| Heart | 12.8 | Medium |
| Brain | 8.1 | Medium |
| Skeletal muscle | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical cancer cell line |
| HepG2 | 19.7 | Hepatocellular carcinoma cell line |
| K562 | 16.4 | Chronic myeloid leukemia cell line |
| A549 | 14.9 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.95A>G (p.Gln32Arg) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.148C>T (p.Arg50*) | Nonsense | <0.01% | Loss of function; associated with Diamond-Blackfan anemia |
| c.202_203insA | Frameshift | <0.01% | Loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RPL36 lead to haploinsufficiency, impairing ribosome assembly and causing Diamond-Blackfan anemia.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for RPL36.
Dominant Negative (DN)
No dominant-negative mutations described for RPL36.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation |
| • cytoplasm | • nucleolus |
| • ribosome | • large ribosomal subunit |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis
• p53 signaling pathway (indirect)
Protein Summary
Ribosomal protein L36 (RPL36) is a 12.5 kDa protein composed of 105 amino acids. It is a component of the 60S large ribosomal subunit, where it contributes to the structural integrity of the ribosome and facilitates peptide bond formation. RPL36 is highly conserved across eukaryotes. The protein contains a zinc finger domain and is involved in nucleolar assembly. Altered expression of RPL36 has been linked to ribosomopathies and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL36AL Knockout HEK293 Cell Line | EDJ-KQ50584 | Human | 6166 | Details Get a Quote |
| RPL36A-HNRNPH2 Knockout HEK293 Cell Line | EDJ-KQ52492 | Human | 100529097 | Details Get a Quote |
| RPL36AL Knockout HeLa Cell Line | EDJ-KQ54352 | Human | 6166 | Details Get a Quote |
| RPL36A-HNRNPH2 Knockout HeLa Cell Line | EDJ-KQ60955 | Human | 100529097 | Details Get a Quote |
| RPL36AL Knockout A-549 Cell Line | EDJ-KQ62848 | Human | 6166 | Details Get a Quote |
| RPL36A-HNRNPH2 Knockout A-549 Cell Line | EDJ-KQ69430 | Human | 100529097 | Details Get a Quote |
| RPL36AL Knockout HCT 116 Cell Line | EDJ-KQ71314 | Human | 6166 | Details Get a Quote |
| RPL36A-HNRNPH2 Knockout HCT 116 Cell Line | EDJ-KQ77781 | Human | 100529097 | Details Get a Quote |
