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Description for Protein RAG1

recombination activating gene 1
5 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • RING: Ring finger
  • ZNFC2: zinc finger
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10628
    KEGG - Pathway(s):
    hsa05340
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    V(D)J recombination activating protein 1; RNF74; MGC43321; Recombination activating protein 1; Truncated recombination activating gene 1; RING finger protein 74
    Approved Symbol:
    RAG1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity(Pd);
  • Omenn syndrome(Pd);
  • Recombination activating gene 1 polymorphism(Pd);
  • Severe combined immunodeficiency, B cell-negative(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01556 Entrez Gene ID: 5896 OMIM ID: 179615 Swissprot Accession: P15918;