| Gene Symbol | RAG1 |
|---|---|
| Entrez Gene | 5896 |
| Alt Symbol | RAG-1, RNF74 |
| Species | Human |
| Gene Type | protein-coding |
| Description | recombination activating gene 1 |
| Other Description | RING finger protein 74|V(D)J recombination-activating protein 1|recombination activating protein 1 |
| Swissprots | Q8IY72 Q8NER2 E9PPC4 P15918 |
| Accessions | AAG38421 AAM77798 CBX87169 EAW68118 P15918 AY235716 BC037344 AAH37344 M29474 AAA60248 XM_005253041 XP_005253098 XM_011520250 XP_011518552 XM_011520251 XP_011518553 NM_000448 NP_000439 |
| Function | Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T- lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'- hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, |
| Subcellular Location | Nucleus {ECO:0000255|PROSITE- ProRule:PRU00820}. |
| Tissue Specificity | Maturing lymphoid cells. |
| Top Pathways | Primary immunodeficiency |