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FLASH GENE
Symbol RAG1 contributors: mct/npt - updated : 27-01-2010
HGNC name recombination activating gene 1
HGNC id 9831
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal ring finger and two zinc finger domains
  • nuclear localization signal (NLS)
  • an alpha helix domain
  • a core domain and acidic domain
  • one NBD domain
  • C-terminus facilitates hairpin formation on long DNA substrates (Kumar 2009)
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Rag1 (90.2pc)
    homolog to rattus Rag1 (90.5pc)
    Homologene
    FAMILY
    CATEGORY immunity/defense , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    text localized in the epithelial layer and absent in the lamina propria of intestine (Lynch 1995)
    basic FUNCTION
  • lymphoid specific V(D)J recombination acting at a pair of recombination signal sequences and making double strand breaks, next to these signals
  • required to assemble mature Ag receptor genes in developing lymphocytes (Simkus 2007)
  • catalyze V(D)J recombination and is essential for generation of the diverse repertoire of antigen receptor genes and effective immune responses
  • may have ubiquitin ligase activity (Simkus 2009)
  • involved in recognition of DNA substrate but stable binding and cleavage activity also requires RAG2
  • promotes hairpin retention in the postcleavage RAG complex (Kumar 2009)
  • required for the rearrangement of antigen receptor genes (Kuo 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with RAG2
  • essential component of the RAG1/2 V(D)J recombinase, which mediates antigen-receptor gene assembly-contains a plant homeodomain (PHD) finger that specifically recognizes histone H3 trimethylated at lysine 4 (H3K4me3) (Matthews 2007)
    • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • binding one magnesium or manganese ion per subunit
    • protein
  • interacting with KPNA2, GMEB1, SF3A2 (Maitra 2009)
  • binding KPNA1 and putatively ubiquitylates it (Simkus 2009)
    • cell & other
    REGULATION
    activated by IL6 in circulating B cells (Hillion 2007)
    inhibited by activation of Abl and Erk kinases in T cells, leading to the transcriptional inactivation of RAG1 and RAG2 (Kuo 2009)
    Other auto-ubiquitylation depends on CDC34 (Simkus 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) SCIDO , SCIDBL , CCHIG
    related resource RAG1base: Mutation registry for autosomal recessive RAG1 immunodeficiency
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS