RPL10 Human Recombinant Protein

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four 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 L10E family of ribosomal proteins. It is located in the cytoplasm. In vitro studies have shown that the chicken protein can bind to c-Jun and can repress c-Jun-mediated transcriptional activation, but these activities have not been demonstrated in vivo. This gene was initially identified as a candidate for a Wilms tumor suppressor gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor. This gene has been referred to as 'laminin receptor homolog' because a chimeric transcript consisting of sequence from this gene and sequence from the laminin receptor gene was isolated; however, it is not believed that this gene encodes a laminin receptor. Alternative splicing results in multiple transcript variants. This gene also uses multiple polyA signals, with the 3'-most polyA signal overlapping the deoxyribonuclease I-like 1 gene on the opposite strand. This gene is co-transcribed with the small nucleolar RNA gene U70, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Feb 2012]

RPL10: Defects in RPL10 are a cause of susceptibility to autism X-linked type 5 (AUTSX5). A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. RPL10 is involved in autism only in rare cases. Two hypomorphic variants affecting the translation process have been found in families with autism spectrum disorders, suggesting that aberrant translation may play a role in disease mechanisms. Belongs to the ribosomal protein L10e family.

Protein type: Translation; Ribosomal

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: membrane; endoplasmic reticulum; cytosol

Molecular Function: protein binding; structural constituent of ribosome

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

Disease: Autism, Susceptibility To, X-linked 5