RAG1 - recombination activating 1 Gene
Also Known as RAG-1; RNF74
Species: Homo sapiens
About RAG1
This gene has 6 transcripts (splice variants), 186 orthologues and is associated with 9 phenotypes. Broad expression in thyroid (RPKM 2.3), bone marrow (RPKM 1.9) and 20 other tissues.
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, Jul 2008]
RAG1 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_000448.3 | NP_000439.2 | V(D)J recombination-activating protein 1 |
| NM_001377277.1 | NP_001364206.1 | V(D)J recombination-activating protein 1 |
| NM_001377278.1 | NP_001364207.1 | V(D)J recombination-activating protein 1 |
| NM_001377279.1 | NP_001364208.1 | V(D)J recombination-activating protein 1 |
| NM_001377280.1 | NP_001364209.1 | V(D)J recombination-activating protein 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17474147 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in V(D)J recombination |
IMP
IMP: Inferred from mutant phenotype
|
14670978 | GOA |
RAG1 Protein Structure
zf-C3HC4: Zinc finger, C3HC4 type (RING finger) (293 - 331)
zf-RAG1: Recombination-activating protein 1 zinc-finger domain (354 - 383)
RAG1: Recombination-activation protein 1 (RAG1), recombinase (513 - 953)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1043 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
V(D)J recombination-activating protein 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity |
|
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| Combined Cellular And Humoral Immune Defects With Granulomas |
|
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| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
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| Omenn Syndrome |
|
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| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
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| Severe Combined Immunodeficiency |
|
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| Lymphopenia |
|
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| Combined Immunodeficiency |
|
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| Lymphoblastic Lymphoma |
|
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| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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| Agammaglobulinemia |
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| Immunodeficiency 65 |
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| T Cell Deficiency |
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| Common Variable Immunodeficiency |
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| Ataxia-Telangiectasia |
|
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| Recombinase Activating Gene 1 Deficiency |
|
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| Baylisascariasis |
|
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| Cd3zeta Deficiency |
|
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| Immunodeficiency With Hyper-Igm, Type 3 |
|
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| Osteopetrosis |
|
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| Immune Deficiency Disease |
|
|
| Purine Nucleoside Phosphorylase Deficiency |
|
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| Reticular Dysgenesis |
|
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| Adenosine Deaminase Deficiency |
|
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| Lig4 Syndrome |
|
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| B Cell Deficiency |
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| Bare Lymphocyte Syndrome, Type Ii |
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| Hereditary Neuropathies |
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| Immunodeficiency With Hyper-Igm, Type 1 |
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| Purine-Pyrimidine Metabolic Disorder |
|
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| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
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| Leukemia, Acute Lymphoblastic |
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| Autoimmune Cholangitis |
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| Immunoglobulin Alpha Deficiency |
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| Lymphoid Interstitial Pneumonia |
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| Lymphoma, Hodgkin, Classic |
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| T-Cell Acute Lymphoblastic Leukemia |
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| Anemia, Autoimmune Hemolytic |
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| Systemic Lupus Erythematosus |
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| Inflammatory Bowel Disease 18 |
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| Autoimmune Lymphoproliferative Syndrome |
|
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| Lymphoma, Non-Hodgkin, Familial |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | RAG1 | RGD | RGD:619790 |
| Mus musculus | RAG1 | MGD | MGI:97848 |
| Felis catus | RAG1 | VGNC | VGNC:69222 |
| Canis familiaris | RAG1 | VGNC | VGNC:45326 |
| Macaca mulatta | RAG1 | VGNC | VGNC:107632 |
| Bos taurus | RAG1 | VGNC | VGNC:33693 |
| Others | RAG1 | NCBI |