Recombination activating gene 1
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:abbreviation |
gptkb:RAG1
|
| gptkbp:associatedWith |
gptkb:severe_combined_immunodeficiency_(SCID)
immune system development |
| gptkbp:discoveredIn |
1990
|
| gptkbp:encodes |
gptkb:RAG1_protein
|
| gptkbp:Entrez_Gene_ID |
5896 (NCBI)
|
| gptkbp:expressedIn |
lymphoid cells
|
| gptkbp:function |
gptkb:V(D)J_recombination
|
| https://www.w3.org/2000/01/rdf-schema#label |
Recombination activating gene 1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_11_(human)
|
| gptkbp:mutationAssociatedWith |
immunodeficiency
|
| gptkbp:OMIM |
179615
|
| gptkbp:orthologIn |
gptkb:mouse
gptkb:zebrafish |
| gptkbp:partner |
gptkb:RAG2
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P15918
|
| gptkbp:bfsParent |
gptkb:RAG1
|
| gptkbp:bfsLayer |
7
|