DBR1 Human

The DBR1 gene is located on chromosome 3q22.3 and encodes a protein that is approximately 545 amino acids in length . The human DBR1 protein shares significant homology with its orthologs in other species, including yeast and mouse . The protein contains a conserved N-terminus, particularly within the first 200 residues, which is crucial for its enzymatic activity .

DBR1 specifically targets the 2’-5’ branched phosphodiester bonds at the branch point of excised lariat intron RNA . By converting these lariats into linear molecules, DBR1 facilitates their degradation and ensures the proper turnover of RNA molecules . This debranching activity is vital for the regulation of pre-mRNA splicing and the maintenance of RNA homeostasis within the cell .

In addition to its role in RNA metabolism, DBR1 has been implicated in retroviral replication. The enzyme may participate in the replication process of retroviruses by acting on RNA lariat intermediates during cDNA synthesis .

Mutations or dysregulation of the DBR1 gene have been associated with various diseases. For instance, DBR1 dysfunction has been linked to viral encephalitis, amyotrophic lateral sclerosis (ALS), and certain types of cancer . The enzyme’s role in RNA processing and retroviral replication makes it a potential target for therapeutic interventions in these conditions .

Research on DBR1 has provided valuable insights into its function and regulation. Studies have shown that the enzyme is expressed throughout the body, with the highest expression levels observed in the spinal cord and brainstem . The recombinant form of human DBR1 has been used in various experimental settings to study its enzymatic activity and potential therapeutic applications .