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Protein Page:
RPS17 (human)

Overview
RPS17 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; Translation
Chromosomal Location of Human Ortholog: 15q
Cellular Component: cytosol; extracellular matrix; focal adhesion; membrane; nucleoplasm
Biological Process: erythrocyte homeostasis; mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly and maintenance; ribosomal small subunit biogenesis and assembly; rRNA processing; SRP-dependent cotranslational protein targeting to membrane; translation; translational initiation; viral transcription
Disease: Diamond-blackfan Anemia 4
Reference #:  P08708 (UniProtKB)
Alt. Names/Synonyms: 40S ribosomal protein S17; AC010724.3; DBA4; MGC72007; ribosomal protein S17; RPS17; RPS17L; RPS17L1; RPS17L2; RS17
Gene Symbols: RPS17
Molecular weight: 15,550 Da
Basal Isoelectric point: 9.85  Predict pI for various phosphorylation states
Select Structure to View Below

RPS17

Protein Structure Not Found.
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