RPS14: Ribosomal Protein S14
A key gene in ribosome biogenesis and 5q- syndrome
Gene Information Card
| Symbol | RPS14 |
|---|---|
| Full Name | Ribosomal Protein S14 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 6208 ncbi.nlm.nih.gov/gene/6208 |
| Ensembl ID | ENSG00000164587 |
| UniProt ID | P62263 |
| OMIM ID | 130410 |
| HGNC ID | 10407 |
| Aliases | S14, uS11 |
Description
RPS14 encodes a component of the 40S ribosomal subunit, essential for mRNA translation and ribosome assembly. Haploinsufficiency of RPS14 is the primary driver of the 5q- syndrome, a subtype of myelodysplastic syndrome characterized by anemia and del(5q).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 5q- syndrome (MDS with isolated del(5q)) | Haploinsufficiency of RPS14 leads to impaired ribosome biogenesis, p53 activation, and erythroid differentiation failure. | ClinVar, OMIM |
| Diamond-Blackfan anemia (DBA) | RPS14 mutations cause ribosomal dysfunction, reducing erythroid progenitor survival. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 25.3 | High |
| Lymph Node | 22.1 | High |
| Spleen | 20.8 | High |
| Brain | 15.4 | Medium |
| Liver | 12.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 28.5 | High expression |
| HEK293 | 20.1 | Moderate expression |
| HeLa | 18.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.202C>T (p.Arg68*) | Nonsense | <0.1% | Premature stop, loss of function |
| del(5q) | Chromosomal deletion | Common in 5q- syndrome | Haploinsufficiency of RPS14 |
Mutation functional classification
Loss of Function (LOF)
Most RPS14 mutations are loss-of-function, leading to haploinsufficiency and impaired ribosome assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for RPS14.
View complete mutation data：
Gene Ontology (GO)
| • ribosome biogenesis | • translation |
| • structural constituent of ribosome | • cytoplasmic translation |
| • rRNA processing |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis in eukaryotes
• p53 signaling (via RPL11/MDM2)
Protein Summary
Ribosomal protein S14 (RPS14) is a component of the 40S small ribosomal subunit. It is essential for ribosome assembly and mRNA translation. RPS14 haploinsufficiency due to deletion of chromosome 5q causes 5q- syndrome, a myelodysplastic syndrome with severe anemia. RPS14 mutations are also linked to Diamond-Blackfan anemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS14 Knockout HEK293 Cell Line | EDJ-KQ50590 | Human | 6208 | Details Get a Quote |
| RPS14 Knockout HeLa Cell Line | EDJ-KQ54359 | Human | 6208 | Details Get a Quote |
| RPS14 Knockout A-549 Cell Line | EDJ-KQ62855 | Human | 6208 | Details Get a Quote |
| RPS14 Knockout HCT 116 Cell Line | EDJ-KQ71320 | Human | 6208 | Details Get a Quote |
