V(D)J recombination-activating protein 1
RAG1 exhibits endonuclease activity and plays a major role during VDJ recombination. RAG1 also catalyses the ubiquitination of histone H3. This activity is shown to be important for the recomination process as well (PMID: 20122409).
UniprotKB Accession | P15918 |
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Alternative Name(s) | RING finger protein 74 |
Writer for PTM/s | |
EC number | 3.1.-.-, 6.3.2.- |
No. of coding genes | V(D)J recombination-activating protein 1 is coded by following 1 non-allelic gene/s |
Gene name | recombination activating gene 1 |
Gene symbol | RAG1 |
Promoter region (-700 TSS +300) | Get sequence |
Previous Symbol/s | |
Aliases | RNF74, MGC43321 |
GeneID | 5896 |
Chromosomal location | 11p13 |
HGNC | 9831 |
Unigene | Hs.73958 |
MIM | 179615 |
RefSeq mRNA | NM_000448.2 |
RefSeq Protein | NP_000439.1 |
Disease associations | Immunodeficiency disorder: ; PMID: 18463379 Immunodeficiency disorder: B cell negative severe combined immunodeficiency; PMID: 8810255 Immunodeficiency disorder: Omenn syndrome (OS); PMID: 11313270 |
Lysine ubiquitinases E3 ubiquitin-protein ligase BRE1A, E3 ubiquitin-protein ligase BRE1B, E3 ubiquitin-protein ligase DTX3L, E3 ubiquitin-protein ligase HUWE1, E3 ubiquitin-protein ligase RBX1, E3 ubiquitin-protein ligase RING1, E3 ubiquitin-protein ligase RING2, E3 ubiquitin-protein ligase RNF168, E3 ubiquitin-protein ligase RNF8, E3 ubiquitin-protein ligase UBR2, E3 ubiquitin-protein ligase UHRF1, V(D)J recombination-activating protein 1