RPL38: Ribosomal Protein L38
A component of the large ribosomal subunit involved in translation and craniofacial development
Gene Information Card
| Symbol | RPL38 |
|---|---|
| Full Name | Ribosomal Protein L38 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 6169 ncbi.nlm.nih.gov/gene/6169 |
| Ensembl ID | ENSG00000172809 |
| UniProt ID | P63173 |
| OMIM ID | 604182 |
| HGNC ID | 10349 |
| Aliases | L38, MGC117267 |
Description
RPL38 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. This protein is involved in the initiation of translation and plays a critical role in ribosome biogenesis. Mutations in RPL38 are associated with ribosomopathies, particularly affecting craniofacial development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofacial microsomia | Haploinsufficiency of RPL38 disrupts ribosome function during embryonic development, leading to asymmetric facial growth. | ClinVar, OMIM |
| Ribosomopathy (general) | Defective ribosomal protein synthesis impairs cellular translation, particularly in highly proliferative tissues. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.9 | Low |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 12.5 | Medium expression |
| K562 | 10.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Loss of function; associated with craniofacial microsomia |
| c.95C>T | Nonsense | Rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficiency due to nonsense or missense mutations leads to reduced ribosomal protein L38 levels, impairing translation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) |
Pathways
• Ribosome (KEGG: hsa03010)
• Eukaryotic translation initiation (Reactome: R-HSA-72613)
Protein Summary
Ribosomal protein L38 is a 70-amino-acid protein that forms part of the 60S ribosomal subunit. It is highly conserved and essential for accurate translation initiation. The protein is localized to the cytoplasm and is ubiquitously expressed, with highest levels in testis and brain.
Related Services
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|---|---|---|---|---|
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