FunctionRequired for pre-rRNA processing and maturation of 40S ribosomal subunits.
Tissue specificityHigher level expression is seen in the colon carcinoma tissue than normal colon tissue.
Involvement in diseaseDefects in RPS19 are the cause of Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]. DBA1 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.
Sequence similaritiesBelongs to the ribosomal protein S19e family.
Cellular localizationNucleus. Located more specifically in the nucleoli.