| 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
|