RPL10A
Ribosomal Protein L10A: A Core Component of the Large Ribosomal Subunit
Gene Information Card
| Symbol | RPL10A |
|---|---|
| Full Name | Ribosomal Protein L10A |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 4736 ncbi.nlm.nih.gov/gene/4736 |
| Ensembl ID | ENSG00000112624 |
| UniProt ID | P62906 |
| OMIM ID | 312080 |
| HGNC ID | 10301 |
| Aliases | CSA19, L10A, NEDD6, uL1 |
Description
RPL10A encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the L1P family of ribosomal proteins and is located in the cytoplasm. RPL10A is essential for ribosome biogenesis and protein synthesis. Mutations in this gene have been associated with Diamond-Blackfan anemia (DBA) and various cancers. As a core ribosomal protein, it plays a critical role in translation initiation and elongation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations impair ribosome assembly, leading to erythroid progenitor failure | ClinVar, OMIM |
| Colorectal cancer | Overexpression and copy number gains promote translation of oncogenic mRNAs | COSMIC, NCBI |
| Breast cancer | Altered expression linked to poor prognosis and ribosome stress | NCBI, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Kidney | 42.1 | High |
| Heart | 38.5 | High |
| Brain | 35.0 | Medium |
| Lung | 33.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 52.3 | High expression |
| HeLa | 49.7 | High expression |
| K562 | 45.1 | High expression |
| MCF7 | 40.6 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.128A>G (p.Asn43Ser) | Missense | Rare | Unknown functional effect; reported in DBA |
| c.346C>T (p.Arg116Trp) | Missense | Rare | Potential loss of function; associated with DBA |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression; pathogenic in DBA |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair ribosome assembly and protein synthesis, leading to Diamond-Blackfan anemia.
Gain of Function (GOF)
Not well documented; overexpression in cancers may enhance translation of oncogenes.
Dominant Negative (DN)
Not reported for RPL10A.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • RNA binding |
| • translation | • ribosome biogenesis |
| • cytoplasmic translation |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis in eukaryotes
• mTOR signaling pathway
Protein Summary
RPL10A (uL1) is a 217-amino-acid protein that forms part of the 60S ribosomal subunit. It is highly conserved across eukaryotes and is essential for ribosome assembly and translation. The protein interacts with rRNA and other ribosomal proteins to stabilize the large subunit. Post-translational modifications include ubiquitination and acetylation, which regulate its stability and function.
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