RAG1 recombination activating 1
Gene ID: 5896, updated on 15-Oct-2024Gene type: protein coding
Also known as: RAG-1; RNF74
- See all available tests in GTR for this gene
- Go to complete Gene record for RAG1
- Go to Variation Viewer for RAG1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined immunodeficiency due to partial RAG1 deficiency | See labs |
| Combined immunodeficiency with skin granulomas | See labs |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Histiocytic medullary reticulosis | See labs |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | See labs |
Genomic context
- Location:
- 11p12
- Sequence:
- Chromosome: 11; NC_000011.10 (36510353..36579762)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RAG1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Catalogue of Somatic Mutations in Cancer (COSMIC)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RAG1 database
- RAG1base: Mutation registry for autosomal recessive RAG1 deficiency
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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