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RPS7 Required for rRNA maturation. Defects in RPS7 are the cause of Diamond-Blackfan anemia type 8 (DBA8). DBA8 is 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. Belongs to the ribosomal protein S7e family. Note: This description may include information from UniProtKB.
Protein type: Ribosomal; Translation
Chromosomal Location of Human Ortholog: 12|12 A2
Cellular Component: centrosome; cytoplasm; cytoskeleton; extracellular matrix; focal adhesion; intracellular; intracellular ribonucleoprotein complex; membrane; nucleolus; nucleus; protein complex; ribosome; small-subunit processome
Molecular Function: mRNA 3'-UTR binding; mRNA 5'-UTR binding; poly(U) binding; protein kinase binding; RNA binding; structural constituent of ribosome
Biological Process: cell differentiation; neural tube closure; protein stabilization; ribosomal small subunit biogenesis and assembly; rRNA processing; translation
Reference #:  P62082 (UniProtKB)
Alt. Names/Synonyms: 40S ribosomal protein S7; ribosomal protein S7; Rps7; Rps7A; RS7; S7
Gene Symbols: Rps7
Molecular weight: 22,127 Da
Basal Isoelectric point: 10.09  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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