RPS19 ist ein Gen, das durch das Symbol RPS19 kodiert wird. Es ist auch bekannt als: 40S ribosomal protein S19; Small ribosomal subunit protein eS19. RPS19 hat eine Masse von 16.06kDa, eine Aminosäurelänge von 145, und ist an Diamond-Blackfan anemia 1 beteiligt.
Wir bieten 7 antikörper gegen RPS19, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
Entrez Zusammenfassung
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
Gewebespezifität
Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.
Rolle bei Krankheiten
Diamond-Blackfan anemia 1: 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 developing leukemia. 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.
Sequenzähnlichkeiten
Belongs to the eukaryotic ribosomal protein eS19 family.
Zellort
Nucleus.
Located more specifically in the nucleoli.
