Defects in RPS17 are the cause of Diamond-Blackfan anemia type 4 (DBA4). DBA4 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 S17e family. Note: This description may include information from UniProtKB.
Protein type: Ribosomal protein; Translation
Chromosomal Location of Human Ortholog: 15q
Cellular Component: membrane; ribosome; cytosol
Molecular Function: structural constituent of ribosome
Biological Process: SRP-dependent cotranslational protein targeting to membrane; viral reproduction; translation; translational termination; viral infectious cycle; mRNA metabolic process; erythrocyte homeostasis; ribosomal small subunit biogenesis and assembly; translational elongation; cellular protein metabolic process; RNA metabolic process; translational initiation; mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly and maintenance; viral transcription; gene expression; rRNA processing
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.