Alt. symbols: LAMR1 | LRP | 37LRP | p40 | SA

Approved name: ribosomal protein SA
Alt. names: laminin receptor 1 (67kD, ribosomal protein SA)

Location: 3p22.1: 39406716 - 39426255 (+)
Gene type: protein_coding, 20 transcripts.

Scores: LoFtool: | pLI: 0.75185143 | LOEUF: 0.368

HGNC: 6502

NCBI: 3921, RefSeq: NG_033234.1

Ensembl: ENSG00000168028.15

LRG_735 | Status: public

OMIM: 150370

Expression | ProteinAtlas

The RPSA gene encodes a protein called ribosomal protein SA (RPSA), which plays a crucial role in the functioning of ribosomes. Ribosomes are essential cellular structures responsible for protein synthesis, where they turn genetic information into functional proteins. RPSA is one of the approximately 80 different ribosomal proteins that conform the small subunit of ribosomes. The small subunit is responsible for recognizing and binding to the messenger RNA (mRNA) molecule. This binding initiates the process of protein synthesis. The exact function of RPSA within the ribosome is not fully understood, but research suggests that it may have a regulatory role by controlling the translation of specific mRNAs, thus influencing the synthesis of certain proteins. These proteins are likely to be important for various developmental processes that occur before birth. Generally, ribosomal proteins, including RPSA, are involved in the assembly and stability of ribosomes by helping with the proper folding and positioning of the ribosomal RNA (rRNA) molecules. Furthermore, ribosomal proteins, have been found to play roles in cellular growth, proliferation, and differentiation.

Monoallelic missense and truncating (nonsense, frameshift) mutations in the RPSA gene have been reported in individuals with isolated congenital asplenia. People with this condition lack a spleen - and are thus highly susceptible to life-threatening infections - and suffer from other developmental abnormalities. As of the time of writing, there are 6 pathogenic and 1 likely pathogenic variants in ClinVar (Q9X, T54N, L58F, R180W/G, R186C and P199fs). RPSA gene mutations are thought to reduce the amount of functional ribosomal protein SA. A shortage of the normal protein likely impairs the assembly of ribosomes, but the specific effects of the mutations are not known. It is unclear why RPSA gene mutations mainly affect the development of the spleen. [Load More]