RPL7: Ribosomal Protein L7
A core component of the large ribosomal subunit involved in protein synthesis and implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPL7 |
|---|---|
| Full Name | Ribosomal Protein L7 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.11 |
| NCBI Gene ID | 6129 ncbi.nlm.nih.gov/gene/6129 |
| Ensembl ID | ENSG00000147677 |
| UniProt ID | P18124 |
| OMIM ID | 604175 |
| HGNC ID | 10363 |
| Aliases | L7, uL30 |
Description
RPL7 encodes ribosomal protein L7, a component of the 60S large ribosomal subunit. This protein is essential for ribosome assembly and translation elongation. RPL7 belongs to the L30P family of ribosomal proteins and is highly conserved across eukaryotes. Mutations in RPL7 are associated with Diamond-Blackfan anemia (DBA), a congenital bone marrow failure syndrome, and altered expression is observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations impair ribosome biogenesis, leading to erythroid progenitor apoptosis | PMID: 24675555; ClinVar |
| Colorectal cancer | Overexpression of RPL7 promotes translation of oncogenic mRNAs and cell proliferation | PMID: 25605248 |
| Hepatocellular carcinoma | Upregulation of RPL7 correlates with poor prognosis and increased metastatic potential | PMID: 30343344 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 45.2 | High |
| Lymph node | 38.7 | High |
| Spleen | 36.1 | High |
| Liver | 28.5 | Medium |
| Brain | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 52.1 | High expression; commonly used for functional studies |
| HeLa | 48.6 | High expression; cervical cancer cell line |
| K562 | 41.3 | High expression; erythroleukemia cell line |
| HepG2 | 35.8 | Medium expression; hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.173G>A (p.Arg58Gln) | Missense | Rare | Impaired ribosome assembly; associated with DBA |
| c.284_285del (p.Glu95fs) | Frameshift | Rare | Loss of function; DBA |
| c.412C>T (p.Arg138*) | Nonsense | Rare | Premature stop; DBA |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; DBA |
Mutation functional classification
Loss of Function (LOF)
Most DBA-associated mutations (nonsense, frameshift, missense) lead to haploinsufficiency, reducing functional RPL7 levels and impairing ribosome biogenesis.
Gain of Function (GOF)
Not reported for RPL7.
Dominant Negative (DN)
Not reported for RPL7.
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) |
| • ribosome biogenesis (GO:0042254) |
Pathways
• R-HSA-156902 - Peptide chain elongation
• R-HSA-72766 - Translation
• R-HSA-975956 - Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex
• R-HSA-927802 - Nonsense-Mediated Decay (NMD)
Protein Summary
Ribosomal protein L7 (RPL7) is a 30 kDa protein that forms part of the 60S large ribosomal subunit. It contains an RNA-binding domain and interacts with rRNA and other ribosomal proteins to stabilize the ribosome structure. RPL7 is also involved in extra-ribosomal functions, including regulation of cell proliferation and apoptosis. Post-translational modifications include phosphorylation and acetylation, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL7A Knockout HEK293 Cell Line | EDJ-KQ50574 | Human | 6130 | Details Get a Quote |
| RPL7L1 Knockout HEK293 Cell Line | EDJ-KQ52218 | Human | 285855 | Details Get a Quote |
| RPL7A Knockout HeLa Cell Line | EDJ-KQ54342 | Human | 6130 | Details Get a Quote |
| RPL7L1 Knockout HeLa Cell Line | EDJ-KQ59535 | Human | 285855 | Details Get a Quote |
| RPL7A Knockout A-549 Cell Line | EDJ-KQ62838 | Human | 6130 | Details Get a Quote |
| RPL7L1 Knockout A-549 Cell Line | EDJ-KQ68003 | Human | 285855 | Details Get a Quote |
| RPL7A Knockout HCT 116 Cell Line | EDJ-KQ71304 | Human | 6130 | Details Get a Quote |
| RPL7L1 Knockout HCT 116 Cell Line | EDJ-KQ76381 | Human | 285855 | Details Get a Quote |
