RPL35A 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 L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Transcript variants utilizing alternative transcription initiation sites and alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

RPL35A: Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site. Defects in RPL35A are the cause of Diamond-Blackfan anemia type 5 (DBA5). DBA5 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 L35Ae family.

Protein type: RNA-binding; Ribosomal; Translation

Chromosomal Location of Human Ortholog: 3q29

Cellular Component: membrane; mitochondrion; cytosol

Molecular Function: structural constituent of ribosome; tRNA binding

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

Disease: Diamond-blackfan Anemia 5