RPS10 Human
Description
Gene Structure and Localization
The RPS10 gene is located on chromosome 6 (6p21.31) and spans approximately 12.5 kb. Its genomic reference sequence is NG_023200.1, with the primary transcript NM_001203245.2 encoding a 165-amino acid protein . The gene belongs to the ribosomal protein S10 family (S10E) and contains multiple processed pseudogenes dispersed across the genome .
Functional Role in Ribosome Biogenesis
RPS10 is essential for ribosome assembly and stability. While its precise role remains unclear, studies suggest:
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Ribosomal subunit integrity: RPS10 mutations disrupt ribosome assembly, leading to apoptosis of hematopoietic progenitors in DBA .
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Cellular regulation: Potential involvement in cell cycle control and apoptosis pathways, though direct mechanisms are under investigation .
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Protein interactions: Binds to PTTG1, a pituitary tumor-transforming gene, implicating a role in oncogenesis .
Tissue-Specific Expression Patterns
RPS10 is ubiquitously expressed in human tissues, with cytoplasmic localization. Key findings from the Human Protein Atlas include:
| Tissue Type | Expression Level | Subcellular Localization | Source |
|---|---|---|---|
| Bone Marrow | High | Cytoplasmic | |
| Liver | Moderate | Cytoplasmic | |
| Brain (Cerebral Cortex) | Low | Cytoplasmic | |
| Breast | Moderate | Cytoplasmic |
Detailed tissue-specific data and antibody validation are available through the Human Protein Atlas .
Diamond-Blackfan Anemia (DBA)
At least five pathogenic mutations in RPS10 have been identified in DBA patients. These mutations result in truncated or nonfunctional proteins, impairing ribosome assembly .
| Mutation (Nucleotide/Protein) | Clinical Outcome | Reference |
|---|---|---|
| c.185G>A (p.Gly62Arg) | Severe anemia, physical anomalies | |
| c.191A>T (p.Asn64Tyr) | Bone marrow failure | |
| c.200del (p.Asn64del) | DBA with short stature |
The LOVD database reports 27 public variants in RPS10, with 19 unique mutations linked to DBA .
Cancer Associations
RPS10 is implicated in oncogenesis due to recurrent mutations in:
| Cancer Type | Mutation Frequency | Source |
|---|---|---|
| Colorectal adenocarcinoma | 5% (TCGA data) | |
| Lung squamous cell carcinoma | 3% (TCGA data) | |
| Ovarian serous cystadenocarcinoma | 2% (TCGA data) |
Variable expression in colorectal cancers has been observed, though no direct correlation with disease severity is established .
Diagnostic Markers
Genetic testing for RPS10 mutations is critical for DBA diagnosis. The Genetic Testing Registry lists multiple diagnostic assays .
Therapeutic Targets
While no targeted therapies exist, ribosomal protein supplementation and p53 pathway modulation are under investigation to mitigate ribosome insufficiency .
Research Frontiers
Product Specs
Product Science Overview
Ribosomal Protein S10 (RPS10) is a crucial component of the ribosome, the cellular machinery responsible for protein synthesis. This protein is encoded by the RPS10 gene and is a part of the 40S subunit of the ribosome. The human recombinant form of RPS10 is produced using recombinant DNA technology, which allows for the expression of the protein in a host organism, typically bacteria or yeast, for research and therapeutic purposes.
RPS10 belongs to the S10E family of ribosomal proteins and is located in the cytoplasm. The ribosome itself is composed of two subunits: the small 40S subunit and the large 60S subunit. Together, these subunits consist of four RNA species and approximately 80 structurally distinct proteins . RPS10 plays a critical role in the assembly and function of the 40S subunit, contributing to the ribosome’s ability to translate mRNA into proteins.
The RPS10 gene is located on chromosome 6 and is known to have multiple processed pseudogenes dispersed throughout the genome . The gene undergoes alternative splicing, resulting in multiple transcript variants that encode the same protein . Additionally, naturally occurring read-through transcription occurs between the RPS10 locus and the neighboring NUDT3 gene .
RPS10 is expressed in various tissues, with variable expression observed in colorectal cancers compared to adjacent normal tissues . However, no correlation between the level of expression and the severity of the disease has been found . The protein is involved in several biological pathways, including viral mRNA translation and nervous system development .
Mutations in the RPS10 gene have been associated with Diamond-Blackfan Anemia (DBA), a rare congenital disorder characterized by failure of the bone marrow to produce red blood cells . Specifically, RPS10 is linked to Diamond-Blackfan Anemia 9 (DBA9) . Understanding the role of RPS10 in this disease can provide insights into potential therapeutic targets and treatment strategies.
The human recombinant form of RPS10 is widely used in research to study its function and role in various cellular processes. Recombinant proteins are produced by inserting the gene encoding the protein into an expression vector, which is then introduced into a host organism. The host organism expresses the protein, which can be purified and used for various applications, including structural studies, functional assays, and drug development.
