RPL7A
Ribosomal Protein L7a: A Core Component of the Large Ribosomal Subunit
Gene Information Card
| Symbol | RPL7A |
|---|---|
| Full Name | Ribosomal Protein L7a |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 6130 ncbi.nlm.nih.gov/gene/6130 |
| Ensembl ID | ENSG00000148346 |
| UniProt ID | P62424 |
| OMIM ID | 603634 |
| HGNC ID | 10364 |
| Aliases | L7A, SURF-3, SURF3 |
Description
RPL7A encodes ribosomal protein L7a, a component of the 60S large ribosomal subunit. This protein is essential for ribosome assembly and protein synthesis. It is also involved in extra-ribosomal functions, including regulation of cell growth and proliferation. Mutations in RPL7A are associated with Diamond-Blackfan anemia (DBA) and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Haploinsufficiency of RPL7A impairs ribosome biogenesis, leading to defective erythropoiesis and bone marrow failure. | ClinVar, OMIM |
| Colorectal cancer | RPL7A overexpression or mutation may promote tumorigenesis through altered translation of oncogenic proteins. | COSMIC, PubMed |
| Breast cancer | RPL7A dysregulation is associated with poor prognosis and may contribute to cancer cell proliferation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Low |
| Heart | 7.5 | Low |
| Liver | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.3 | High expression |
| HeLa (cervical cancer) | 14.1 | High expression |
| HEK293 (embryonic kidney) | 13.8 | High expression |
| MCF7 (breast cancer) | 12.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.173_174delAG | Frameshift deletion | Rare | Loss of function; associated with Diamond-Blackfan anemia |
| c.284G>A (p.Arg95His) | Missense | Rare | Impaired ribosome assembly; reported in DBA |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; DBA-associated |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficiency due to frameshift, nonsense, or start-loss mutations leads to reduced RPL7A levels, impairing ribosome biogenesis and causing Diamond-Blackfan anemia.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may act as an oncogenic driver.
Dominant Negative (DN)
Not reported for RPL7A.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • rRNA binding |
| • translation | • ribosome biogenesis |
| • cytoplasmic translation | • large ribosomal subunit |
Pathways
• Eukaryotic translation initiation
• Ribosome (KEGG: hsa03010)
• rRNA processing in the nucleus and cytosol
Protein Summary
Ribosomal protein L7a (RPL7A) is a 266-amino-acid protein that localizes to the 60S large ribosomal subunit. It contains an RNA-binding domain and is essential for ribosome assembly and translational fidelity. Beyond its ribosomal role, RPL7A interacts with signaling molecules and transcription factors, influencing cell cycle progression and apoptosis. Mutations causing haploinsufficiency lead to Diamond-Blackfan anemia, while overexpression is observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL7A Knockout HEK293 Cell Line | EDJ-KQ50574 | Human | 6130 | Details Get a Quote |
| RPL7A Knockout HeLa Cell Line | EDJ-KQ54342 | Human | 6130 | Details Get a Quote |
| RPL7A Knockout A-549 Cell Line | EDJ-KQ62838 | Human | 6130 | Details Get a Quote |
| RPL7A Knockout HCT 116 Cell Line | EDJ-KQ71304 | Human | 6130 | Details Get a Quote |
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