|
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
|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RAG1
|
|
gptkbp:interactsWith
|
gptkb:RAG2
|
|
gptkbp:length
|
1040 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 11
|
|
gptkbp:mutationAssociatedWith
|
immunodeficiency
|
|
gptkbp:OMIM
|
179615
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Rag1
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
P15918
|
|
gptkbp:bfsParent
|
gptkb:immunodeficiency
|
|
gptkbp:bfsLayer
|
6
|