RAG1

URI: https://gptkb.org/entity/RAG1
GPTKB entity
Statements (30)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:Severe_Combined_Immunodeficiency_(SCID)
gptkb:Omenn_syndrome
gptkbp:biologicalProcess immune system development
endonuclease activity
gptkbp:chromosomeArm gptkb:11p13
gptkbp:discoveredBy gptkb:David_Baltimore
gptkbp:discoveredIn 1989
gptkbp:encodes gptkb:RAG1_protein
gptkbp:Entrez_Gene_ID 5896
ENSG00000166349
gptkbp:expressedIn gptkb:lymphoid_tissue
gptkbp:fullName gptkb:Recombination_activating_gene_1
gptkbp:function gptkb:V(D)J_recombination
gptkbp:geneType protein-coding
gptkbp:HGNC_ID HGNC:9831
gptkbp:interactsWith gptkb:RAG2
gptkbp:length 1040 amino acids
gptkbp:locatedOnChromosome chromosome 11
gptkbp:mutationAssociatedWith gptkb:immunodeficiency
gptkbp:OMIM 179615
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse gptkb:Rag1
gptkbp:referenceGenome gptkb:GRCh38
gptkbp:UniProtID P15918
gptkbp:bfsParent gptkb:Severe_Combined_Immunodeficiency_(SCID)
gptkb:PAX5
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label RAG1