RPL39: Ribosomal Protein L39
A component of the large ribosomal subunit involved in protein synthesis and implicated in cancer and Diamond-Blackfan anemia
Gene Information Card
| Symbol | RPL39 |
|---|---|
| Full Name | Ribosomal Protein L39 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 6170 ncbi.nlm.nih.gov/gene/6170 |
| Ensembl ID | ENSG00000198919 |
| UniProt ID | P62891 |
| OMIM ID | 300664 |
| HGNC ID | 10358 |
| Aliases | L39, MGC104291 |
Description
RPL39 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the L39E family of ribosomal proteins and is involved in the initiation and elongation phases of protein synthesis. Mutations in RPL39 have been associated with Diamond-Blackfan anemia (DBA) and various cancers, including breast cancer and melanoma, where it may act as a tumor suppressor or oncogene depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL39 impair ribosome biogenesis, leading to reduced erythroid progenitor cell proliferation and differentiation. | ClinVar; PMID: 24675553 |
| Breast cancer | RPL39 overexpression or mutation may promote tumor growth and metastasis through altered translation of specific mRNAs. | COSMIC; PMID: 25485619 |
| Melanoma | RPL39 mutations (e.g., RPL39L) have been identified in melanoma, potentially affecting ribosome function and contributing to oncogenesis. | COSMIC; PMID: 25485619 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Breast | 10.1 | Medium |
| Colon | 9.7 | Medium |
| Heart | 7.2 | Low |
| Kidney | 11.4 | Medium |
| Liver | 14.8 | Medium |
| Lung | 10.5 | Medium |
| Ovary | 9.9 | Medium |
| Pancreas | 8.8 | Low |
| Prostate | 10.3 | Medium |
| Skin | 9.1 | Low |
| Spleen | 12.0 | Medium |
| Testis | 15.2 | Medium |
| Thyroid | 9.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells |
| HeLa | 13.8 | Cervical cancer cells |
| MCF7 | 12.5 | Breast cancer cells |
| A549 | 11.9 | Lung cancer cells |
| K562 | 10.7 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130G>A (p.Glu44Lys) | Missense | Rare | Loss of function; associated with Diamond-Blackfan anemia |
| c.95C>T (p.Thr32Met) | Missense | Rare | Unknown functional effect; reported in COSMIC |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations in RPL39 impair ribosome assembly and function, leading to Diamond-Blackfan anemia.
Gain of Function (GOF)
Not well characterized; some mutations in cancer may confer oncogenic properties through altered translation.
Dominant Negative (DN)
Haploinsufficiency is the primary mechanism in Diamond-Blackfan anemia; dominant-negative effects are not established.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation |
| • ribosome biogenesis | • cytoplasmic translation |
| • large ribosomal subunit |
Pathways
• Eukaryotic translation initiation
• Eukaryotic translation elongation
• Ribosome biogenesis in eukaryotes
• rRNA processing
Protein Summary
Ribosomal protein L39 is a small basic protein (51 amino acids) that localizes to the 60S large ribosomal subunit. It is essential for ribosome assembly and function, facilitating mRNA translation. The protein is highly conserved across eukaryotes. Mutations in RPL39 cause Diamond-Blackfan anemia, a congenital bone marrow failure syndrome, and are implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL39L Knockout HEK293 Cell Line | EDJ-KQ6917 | Human | 116832 | Details Get a Quote |
| RPL39L Knockout A-549 Cell Line | EDJ-KQ32896 | Human | 116832 | Details Get a Quote |
| RPL39L Knockout HeLa Cell Line | EDJ-KQ32898 | Human | 116832 | Details Get a Quote |
| RPL39 Knockout HEK293 Cell Line | EDJ-KQ50586 | Human | 6170 | Details Get a Quote |
| RPL39 Knockout HeLa Cell Line | EDJ-KQ54354 | Human | 6170 | Details Get a Quote |
| RPL39 Knockout A-549 Cell Line | EDJ-KQ62850 | Human | 6170 | Details Get a Quote |
| RPL39 Knockout HCT 116 Cell Line | EDJ-KQ71316 | Human | 6170 | Details Get a Quote |
| RPL39L Knockout HCT 116 Cell Line | EDJ-KQ74907 | Human | 116832 | Details Get a Quote |
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