RPS15A
Function
Component of the small ribosomal subunit (PubMed:23636399). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). Required for proper erythropoiesis (PubMed:27909223).
Involvement in disease
Diamond-Blackfan anemia 20
DBA20
A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA20 inheritance is autosomal dominant.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the universal ribosomal protein uS8 family.
Cellular localization
- Cytoplasm
- Nucleus
- Nucleolus
Alternative names
OK/SW-cl.82, RPS15A, Small ribosomal subunit protein uS8, 40S ribosomal protein S15a