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. Is expressed in gonad; hematopoietic cell; hypophysis; immune system; and ventral wall of dorsal aorta. 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. Orthologous to human RAG1 (recombination activating 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
219 figures from 151 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
18 figures from 7 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rag1 Human Ortholog
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
Associated With rag1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:A0A2H4T2C3 522
UniProtKB:O13033 1057
UniProtKB:A0A2R8PY29 1016
UniProtKB:F1QD74 1057
UniProtKB:I2BJN1 256
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-rag1 polyclonal Rabbit
  • IHC
1
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations