RPL4: Ribosomal Protein L4 – A Core Component of the Large Ribosomal Subunit
Essential structural and functional constituent of the 60S ribosomal subunit involved in protein synthesis and implicated in ribosomopathies and cancer.
Gene Information Card
| Symbol | RPL4 |
|---|---|
| Full Name | Ribosomal Protein L4 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 6124 ncbi.nlm.nih.gov/gene/6124 |
| Ensembl ID | ENSG00000174444 |
| UniProt ID | P36578 |
| OMIM ID | 180478 |
| HGNC ID | 10353 |
| Aliases | L4, 60S ribosomal protein L4, RPL4P1 |
Description
RPL4 encodes ribosomal protein L4, a component of the 60S large ribosomal subunit. This protein is essential for ribosome assembly and function, participating in peptide bond formation and translation elongation. RPL4 is highly conserved across eukaryotes and plays a role in cellular growth and proliferation. Alterations in RPL4 expression or function have been linked to Diamond-Blackfan anemia and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Haploinsufficiency of RPL4 impairs ribosome biogenesis, leading to erythroid progenitor failure. | ClinVar, OMIM |
| Colorectal cancer | RPL4 overexpression promotes translation of oncogenic mRNAs and correlates with poor prognosis. | COSMIC, PubMed |
| Hepatocellular carcinoma | RPL4 upregulation enhances ribosome assembly and cell proliferation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Pancreas | 42.1 | High |
| Kidney | 38.5 | High |
| Brain | 25.3 | Medium |
| Heart | 22.8 | Medium |
| Lung | 20.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 52.4 | Cervical cancer cell line |
| HEK293 | 49.7 | Embryonic kidney cells |
| HepG2 | 55.1 | Hepatocellular carcinoma |
| K562 | 44.3 | Chronic myeloid leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.158C>T (p.Thr53Ile) | Missense | <0.01% | Unknown functional impact |
| c.472_473del (p.Leu158fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent RPL4 protein, causing haploinsufficiency.
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) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) | • cytoplasmic translation (GO:0002181) |
Pathways
• Ribosome (KEGG hsa03010)
• Eukaryotic translation elongation (Reactome R-HSA-156842)
• rRNA processing in the nucleus and cytosol (Reactome R-HSA-8868773)
Protein Summary
Ribosomal protein L4 is a 427-amino-acid protein (47.7 kDa) that localizes to the 60S ribosomal subunit. It contains an N-terminal RNA-binding domain and a C-terminal extension that interacts with rRNA and other ribosomal proteins. RPL4 is essential for ribosome assembly and translational fidelity. Post-translational modifications include phosphorylation and acetylation, which may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL49 Knockout HEK293 Cell Line | EDJ-KQ50168 | Human | 740 | Details Get a Quote |
| RPL41 Knockout HEK293 Cell Line | EDJ-KQ50587 | Human | 6171 | Details Get a Quote |
| MRPL42 Knockout HEK293 Cell Line | EDJ-KQ51224 | Human | 28977 | Details Get a Quote |
| MRPL48 Knockout HEK293 Cell Line | EDJ-KQ51337 | Human | 51642 | Details Get a Quote |
| MRPL49 Knockout HeLa Cell Line | EDJ-KQ52755 | Human | 740 | Details Get a Quote |
| RPL41 Knockout HeLa Cell Line | EDJ-KQ54355 | Human | 6171 | Details Get a Quote |
| MRPL42 Knockout HeLa Cell Line | EDJ-KQ56081 | Human | 28977 | Details Get a Quote |
| MRPL48 Knockout HeLa Cell Line | EDJ-KQ56340 | Human | 51642 | Details Get a Quote |
| MRPL49 Knockout A-549 Cell Line | EDJ-KQ61225 | Human | 740 | Details Get a Quote |
| RPL41 Knockout A-549 Cell Line | EDJ-KQ62851 | Human | 6171 | Details Get a Quote |
| MRPL42 Knockout A-549 Cell Line | EDJ-KQ64566 | Human | 28977 | Details Get a Quote |
| MRPL48 Knockout A-549 Cell Line | EDJ-KQ64828 | Human | 51642 | Details Get a Quote |
| MRPL49 Knockout HCT 116 Cell Line | EDJ-KQ69722 | Human | 740 | Details Get a Quote |
| RPL41 Knockout HCT 116 Cell Line | EDJ-KQ71317 | Human | 6171 | Details Get a Quote |
| MRPL42 Knockout HCT 116 Cell Line | EDJ-KQ73021 | Human | 28977 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
