RAG1 deficiency

Gene Information


HUGO name: RAG1


  • recombination activating gene 1
  • V(D)J recombination activating protein 1 (RAG-1)


Reference sequences

  • DNA: (IDbases)
  • cDNA: M29474 (EMBL)
  • Protein: P15918 (SWISSPROT)

Chromosomal location


Protein Information


Protein function:

During lymphocyte development, the genes encoding immunoglobulins and T cell receptors are assembled from Variable (V), Diversity (D), and Joining (J) gene segments. This combinatorial process, known as V(D)J recombination, allows the generation of an enormous range of binding specificities from a limited amount of genetic information. The RAG1/RAG2 complex initiates this process by binding to the conserved Recombination Signal Sequences (RSS) and introducing a double-strand break between the RSS and the adjacent coding segment. These breaks are generated in two steps, nicking of one strand (hydrolysis), followed by hairpin formation (transesterification). RAG1/2 has also been shown to function as a transposase in vitro, and to possess RSS-independent endonuclease activity (end processing) and hairpin opening. RAG1 alone can bind to RSS but stable, efficient binding requires RAG2. All known catalytic activities require the presence of both proteins.

Subcellular location:



Binds 1 magnesium or manganese ion per subunit (by similarity)

Structures (PDB)

1RMD Rag1 Dimerization Domain


Invertase/Homeodomain: 392-448

    RAG2-interacting domain: 504-1008

      Core domain: 392-1011

        SRP1 interacting domain: 1-129

          RCH1 interacting domain:: 333-1043

            Other features

            Basic region 1: 142-147

              Basic region 2:: 222-226

                Basic region 3:: 244-252

                  Basic region 4:: 829-843

                    Basic region 5: 972-975

                      zing ring finger:: 291-333

                      zing finger A:: 352-381

                        zing finger B:: 726-757

                          Other related resourses:


                          Expression pattern for human

                          Animal models

                          Mus musculus (Mouse)

                          Oryctolagus cuniculus (Rabbit)

                            Gallus gallus (Chicken)

                              Xenopus laevis (African clawed frog)

                                Oncorhynchus mykiss (Rainbow trout) (Salmo gairdneri)