RPL11 Antibody – Rabbit Polyclonal

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 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]

RPL11: Binds to 5S ribosomal RNA. Required for rRNA maturation and formation of the 60S ribosomal subunits. Promotes nucleolar location of PML. Defects in RPL11 are the cause of Diamond-Blackfan anemia type 7 (DBA7). DBA7 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 L5P family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Ribosomal; Translation; Nucleolus

Chromosomal Location of Human Ortholog: 1p36.1-p35

Cellular Component: membrane; cytoplasm; nucleolus; cytosol

Molecular Function: rRNA binding; protein binding; structural constituent of ribosome; RNA binding

Biological Process: SRP-dependent cotranslational protein targeting to membrane; viral reproduction; translation; ribosomal large subunit biogenesis and assembly; viral infectious cycle; translational termination; cellular protein metabolic process; translational elongation; translational initiation; mRNA catabolic process, nonsense-mediated decay; viral transcription; gene expression; rRNA processing; protein targeting

Disease: Diamond-blackfan Anemia 7