Gene
rag1
- ID
- ZDB-GENE-990415-234
- Name
- recombination activating 1
- Symbol
- rag1 Nomenclature History
- Previous Names
-
- etID309719.25 (1)
- recombinase
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Exhibits magnesium ion binding activity and sequence-specific DNA binding activity. Contributes to double-stranded DNA endodeoxyribonuclease activity. Involved in V(D)J recombination and protein-DNA complex assembly. Localizes to DNA recombinase complex and endodeoxyribonuclease complex. Human ortholog(s) of this gene implicated in Omenn syndrome; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Is expressed in gonad; hematopoietic cell; hypophysis; immune system; and ventral wall of dorsal aorta. Orthologous to human RAG1 (recombination activating 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 280 figures from 193 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 19 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| combined cellular and humoral immune defects with granulomas | Alliance | Combined cellular and humoral immune defects with granulomas | 233650 |
| Omenn syndrome | Alliance | Omenn syndrome | 603554 |
| severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive | Alliance | Severe combined immunodeficiency, B cell-negative | 601457 |
| Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | 609889 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017907 | Zinc finger, RING-type, conserved site |
| Domain | IPR001841 | Zinc finger, RING-type |
| Domain | IPR018957 | Zinc finger, C3HC4 RING-type |
| Domain | IPR019485 | V(D)J recombination-activating protein 1, Zinc finger |
| Domain | IPR023336 | RAG nonamer-binding domain |
| Domain | IPR035714 | RAG1 importin-binding |
| Family | IPR024627 | V(D)J recombination-activating protein 1 |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Domain Details Per Protein
| Protein | Length | RAG1 importin-binding | RAG nonamer-binding domain | V(D)J recombination-activating protein 1 | V(D)J recombination-activating protein 1, Zinc finger | Zinc finger, C3HC4 RING-type | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type | Zinc finger, RING-type, conserved site |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:O13033
|
1057 | ||||||||
|
UniProtKB:F1QD74
|
1057 |
Interactions and Pathways
No data available
Plasmids