RPS3A
Description
The RPS3A (ribosomal protein S3A) is a protein-coding gene located on chromosome 4.
RPS3A is a human gene encoding the 40S ribosomal protein S3a, a component of the small ribosomal subunit (40S) of the ribosome. Ribosomes are cellular organelles responsible for protein synthesis and are composed of a small (40S) and a large (60S) subunit. This protein belongs to the S3AE family of ribosomal proteins and is located in the cytoplasm. Disrupting the gene in rat cells leads to reversion of the transformed phenotype. RPS3A has multiple transcript variants due to alternative transcription start sites and is co-transcribed with the U73A and U73B small nucleolar RNA genes. Multiple processed pseudogenes of this gene are dispersed throughout the genome.
RPS3A is a component of the small ribosomal subunit, essential for protein synthesis. It participates in the SSU processome, the initial precursor of the small eukaryotic ribosomal subunit, where it collaborates with other factors to fold, modify, and cleave pre-ribosomal RNA. RPS3A may also play a role in erythropoiesis by regulating the transcription factor DDIT3.
RPS3A is also known as FTE1, MFTL, S3A, eS1.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- COVID-19
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- aniridia
- cystinosis
- hemophilia A
- hemophilia B
- Alport syndrome
