RAG1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | RAG1 |
| Official Name | recombination activating 1 [Source:HGNC Symbol;Acc:HGNC:9831] |
| Ensembl ID | ENSG00000166349 |
| Bio databases IDs | |
| Aliases | recombination activating 1, recombination activating protein 1, RING finger protein 74, V(D)J recombination-activating protein 1 |
| Synonyms | MGC43321, recombination activating 1, RNF74 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RAG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone binding
- ubiquitin protein ligase activity
- nuclear localization sequence
- Recombination-activation protein 1 (RAG1), recombinase
- metal ion binding
- enzyme
- Ring finger domain
- protein binding
- sequence-specific DNA binding
- core domain, functional
- identical protein binding
- DNA binding
- endonuclease
- RING-type zinc-finger
- zinc ion binding
- Ring finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- ubiquitin-protein transferase activity
- protein homodimerization
- zinc finger domain
- RAG1 importin binding
- Recombination-activating protein 1 zinc-finger domain
- Zinc finger, C3HC4 type (RING finger)
Pathways
Biological processes and signaling networks where the RAG1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- COVID-19
- precursor B-cell acute lymphoblastic leukemia
- atopic dermatitis
- weight loss
- rheumatoid arthritis
- colitis
- epithelial cancer
- epithelial neoplasia
role in cell
- accumulation in
- expression in
- apoptosis
- proliferation
- quantity
- number
- cellular infiltration by
- cell death
- aggregation
- invasion by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- V(D)J recombination
- B cell differentiation
- T cell differentiation in thymus
- DNA recombination
- adaptive immune response
- visual learning
- chromatin organization
- pre-B cell allelic exclusion
- thymus development
- T cell homeostasis
- immune response
- regulation of behavioral fear response
- negative regulation of thymocyte apoptotic process
- positive regulation of T cell differentiation
- protein autoubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- ubiquitin-protein ligase activity
- zinc ion binding
- protein binding
- protein homodimerization activity
- metal ion binding
- histone binding
- endonuclease activity
- sequence-specific DNA binding