RPL3L
Ribosomal Protein L3 Like
Gene Information Card
| Symbol | RPL3L |
|---|---|
| Full Name | Ribosomal Protein L3 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 6123 ncbi.nlm.nih.gov/gene/6123 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q92901 |
| OMIM ID | 617747 |
| HGNC ID | 10360 |
| Aliases | RPL3L1, L3-like, 60S ribosomal protein L3-like |
Description
RPL3L encodes a protein similar to ribosomal protein L3, a component of the 60S large ribosomal subunit. This gene is specifically expressed in striated muscle (heart and skeletal muscle) and is involved in ribosome biogenesis and translation. Mutations in RPL3L are associated with dilated cardiomyopathy (DCM) and other cardiac disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy (DCM) | Loss-of-function mutations impair ribosomal function in cardiac muscle, leading to reduced protein synthesis and contractile dysfunction. | ClinVar, OMIM |
| Cardiomyopathy, familial restrictive | Missense variants may alter ribosome assembly or translation efficiency in cardiomyocytes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 8.3 | Low |
| Liver | 0.2 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 15.0 | High expression |
| Skeletal muscle myoblasts | 9.5 | Moderate |
| HeLa | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.442C>T (p.Arg148Trp) | missense | 0.01% | Impaired ribosome assembly, associated with DCM |
| c.1048_1050del (p.Lys350del) | deletion | Rare | In-frame deletion, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants that reduce RPL3L protein levels or disrupt ribosome function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants (e.g., p.Arg148Trp) may interfere with wild-type ribosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation |
| • ribosome biogenesis | • cytoplasmic translation |
| • RNA binding |
Pathways
• Eukaryotic translation initiation
• Ribosome (KEGG hsa03010)
• SRP-dependent cotranslational protein targeting to membrane
Protein Summary
RPL3L is a 403-amino-acid protein (UniProt Q92901) that forms part of the 60S ribosomal subunit. It is highly similar to RPL3 but shows muscle-specific expression. The protein contains an RNA-binding domain and is essential for efficient translation in cardiac and skeletal muscle. Defects lead to impaired protein synthesis and cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL3L Knockout HEK293 Cell Line | EDJ-KQ5688 | Human | 6123 | Details Get a Quote |
| RPL3L Knockout HeLa Cell Line | EDJ-KQ54340 | Human | 6123 | Details Get a Quote |
| RPL3L Knockout A-549 Cell Line | EDJ-KQ62836 | Human | 6123 | Details Get a Quote |
| RPL3L Knockout HCT 116 Cell Line | EDJ-KQ71302 | Human | 6123 | Details Get a Quote |
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