Ribosomal Protein L7A (RPL7A) is a crucial component of the large 60S subunit of cytoplasmic ribosomes, which are essential organelles responsible for protein synthesis in cells . This protein belongs to the L7AE family of ribosomal proteins and plays a significant role in various cellular processes .
The RPL7A gene is located on chromosome 9 and encodes the ribosomal protein L7A . The gene is part of the surfeit gene cluster, a group of tightly linked genes that do not share sequence similarity . The RPL7A protein is composed of approximately 248 amino acids and has a molecular weight of around 29 kDa .
RPL7A is involved in the assembly and function of the ribosome, specifically the large 60S subunit . It interacts with a subclass of nuclear hormone receptors, including the thyroid hormone receptor, and inhibits their ability to transactivate by preventing their binding to DNA response elements . This interaction highlights the protein’s role in regulating gene expression and maintaining cellular homeostasis .
RPL7A has been implicated in various diseases and conditions. For instance, it rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7A fused to the receptor tyrosine kinase domain of trk . This rearrangement is associated with certain types of cancer . Additionally, mutations or dysregulation of RPL7A have been linked to Tuberous Sclerosis 1, a genetic disorder characterized by the growth of benign tumors in multiple organs .
RPL7A is ubiquitously expressed in various tissues, reflecting its fundamental role in protein synthesis . The protein is primarily localized in the nucleoli, where ribosome assembly occurs, but it is also found in vesicles within the cell . This distribution is consistent with its involvement in ribosome biogenesis and function .