RRP1 Gene - Ribosomal RNA Processing 1 | Function, Mutations & Disease

RRP1 (Ribosomal RNA Processing 1) encodes a nucleolar protein essential for the processing of pre-ribosomal RNA (pre-rRNA) during ribosome biogenesis. The protein localizes to the nucleolus and is involved in the early cleavage steps of the 47S pre-rRNA transcript. RRP1 interacts with other ribosome assembly factors and is required for the maturation of the 60S large ribosomal subunit. Its expression is ubiquitous, with highest levels in tissues with active protein synthesis.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)

• Major pathway of rRNA processing in the nucleolus (Reactome: R-HSA-6790901)

RRP1 is a 599-amino acid nucleolar protein with a molecular weight of approximately 67 kDa. It contains a conserved N-terminal domain involved in RNA binding and a C-terminal region that mediates protein-protein interactions. The protein is essential for the early cleavage of the 47S pre-rRNA at sites A0, A1, and A2, leading to the production of the 18S rRNA. RRP1 forms a complex with other nucleolar factors such as RRP12 and NOLC1 to facilitate ribosome assembly.