Recombination activating gene 1 also known as RAG-1 is a protein that in humans is encoded by the RAG1 gene. The RAG1 and RAG2 genes are largely conserved in humans. 55.99% and 55.98% of the encoded amino acids contain no reported variants, respectively. The protein encoded by this gene is involved in antibody and T-cell receptor V(D)J recombination. RAG-1 is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG-2. The RAG-1/2 complex recognizes recombination signal sequences (RSSs) that flank the V, D and J regions in the genes that encode the heavy and light chains of antibodies and components of T-cell receptors. The complex binds to the RSSs and nicks the DNA. This leads to the removal of the intervening DNA and the eventual ligation of the V, D and J sequences. In humans, RAG deficiency was first recognised as a form of immune dysregulation known as Omenn syndrome. RAG deficiency is considered an autosomal recessive disease. The disorder is generally identified in infants. Complete loss-of-function in RAG1/2, the main components responsible for V(D)J recombination activity, produces severe immunodeficiency in humans. Here you can see cryo-EM structure of RAG in complex with 12-RSS and 23-RSS substrate DNAs (PDB code: 6DBV)

#molecularart ... #lymphocyte ... #somatic ... #recombination ... #RAG ... #cryoem

Structure rendered with @proteinimaging and depicted with @corelphotopaint