RPS7
Function
Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for rRNA maturation (PubMed:19061985). 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).
Involvement in disease
Diamond-Blackfan anemia 8
DBA8
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by NEK6.
Ubiquitinated. Deubiquitinated by DESI2, leading to its stabilization.
Sequence Similarities
Belongs to the eukaryotic ribosomal protein eS7 family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasm
- Nucleus
- Nucleolus
- Although RPS7 is functional within the cytoplasm, the assembly of ribosomal subunits occurs in the nucleus. RPS7 nuclear import is mediated by IPO5/RanBP5, IPO7/RanBP7, KPNB1/importin-beta or TPNO1/Trn (PubMed:9687515). Colocalizes with NEK6 in the centrosome (PubMed:20873783).
Alternative names
Small ribosomal subunit protein eS7, 40S ribosomal protein S7, RPS7