PABPN1 is a single, non-glycosylated polypeptide chain consisting of 211 amino acids (119-306) with a molecular mass of approximately 23.8 kDa. The recombinant form of PABPN1 is often produced in Escherichia coli (E. coli) and includes a 23 amino acid His-tag at the N-terminus to facilitate purification .
PABPN1 enhances the processivity of poly(A) polymerase, which is responsible for adding the poly(A) tail to the 3’ end of mRNA molecules. This polyadenylation process is critical for mRNA stability, nuclear export, and translation efficiency. PABPN1 binds to the poly(A) tail and interacts with other proteins to regulate the length of the poly(A) tail, ensuring proper mRNA maturation and function .
PABPN1 shuttles between the nucleus and the cytoplasm. It accumulates in the nucleus upon transcription inhibition, suggesting that active transcription is required for its export. The nuclear import of PABPN1 is an energy-dependent process, and its intracellular distribution can vary based on expression levels. In low-expressing cells, PABPN1 is primarily localized in the cytoplasm, while in high-expressing cells, it accumulates in the nucleus .
Mutations in the PABPN1 gene are associated with oculopharyngeal muscular dystrophy (OPMD), a late-onset genetic disorder characterized by progressive muscle weakness. These mutations lead to the formation of intranuclear inclusions and disrupt normal PABPN1 function, affecting mRNA processing and stability.
Recombinant PABPN1 is widely used in research to study mRNA polyadenylation, RNA-protein interactions, and the molecular mechanisms underlying diseases like OPMD. Its ability to bind poly(A) RNA with high affinity makes it a valuable tool for investigating the regulation of gene expression at the post-transcriptional level.