Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.
Involvement in disease
Defects 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.
Belongs to the ribosomal protein S19e family.
Nucleus. Located more specifically in the nucleoli.
Detection of RPS19 in Immunoprecipitates of HeLa whole cell lysate (1 mg for IP, 20% of IP loaded) using ab168840 at 6 µg/mg lysate for IP (Lane 1) and at 1 µg/ml for subsequent Western blot detection. Lane 2 represents control IgG IP. Detection: Chemiluminescence with an exposure time of 30 seconds.