RPS29: Ribosomal Protein S29 - A Core Component of the Small Ribosomal Subunit
Essential for protein synthesis and implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPS29 |
|---|---|
| Full Name | Ribosomal Protein S29 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 6235 ncbi.nlm.nih.gov/gene/6235 |
| Ensembl ID | ENSG00000100241 |
| UniProt ID | P62273 |
| OMIM ID | 603633 |
| HGNC ID | 10421 |
| Aliases | S29, uS14 |
Description
RPS29 encodes ribosomal protein S29, a component of the 40S small ribosomal subunit. This protein is essential for mRNA translation and ribosome biogenesis. Mutations in RPS29 are associated with Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure syndrome characterized by erythroid aplasia and increased cancer risk. RPS29 is also implicated in various cancers through altered expression and somatic mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPS29 impair ribosome assembly and translation, leading to defective erythropoiesis and bone marrow failure. | ClinVar; OMIM #603633 |
| Colorectal cancer | Somatic mutations and altered expression of RPS29 contribute to dysregulated protein synthesis and tumor progression. | COSMIC; NCBI Gene |
| Breast cancer | Overexpression of RPS29 is associated with poor prognosis and may promote cell proliferation. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Lymph node | 37.5 | High |
| Bone marrow | 35.1 | High |
| Spleen | 32.8 | High |
| Liver | 28.4 | Medium |
| Brain | 15.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 42.1 | High expression in embryonic kidney cells |
| HeLa | 38.6 | High expression in cervical cancer cells |
| K562 | 35.4 | High expression in leukemia cells |
| HepG2 | 30.2 | Medium expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.95C>T (p.Pro32Leu) | Missense | Rare | Impaired ribosome assembly |
| c.130G>A (p.Glu44Lys) | Missense | Rare | Reduced protein stability |
| c.158_159del (p.Glu53fs) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DBA-associated mutations in RPS29 are loss-of-function, leading to haploinsufficiency and impaired ribosome biogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPS29.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RPS29.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • rRNA binding |
| • translation | • ribosome biogenesis |
| • cytoplasmic translation | • small ribosomal subunit |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis in eukaryotes
• rRNA processing
• p53 signaling pathway (indirect)
Protein Summary
Ribosomal protein S29 (RPS29) is a 56-amino acid protein (6.7 kDa) that forms part of the 40S small ribosomal subunit. It is highly conserved across eukaryotes and plays a critical role in mRNA translation and ribosome assembly. RPS29 contains a zinc-finger-like domain and is involved in rRNA binding. Mutations cause Diamond-Blackfan anemia, and altered expression is linked to cancer.
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