RAG1 (recombination activating 1)

2003-05-01  

Identity

HGNC
LOCATION
11p12
LOCUSID
ALIAS
RAG-1,RNF74

Other Information

Locus ID:

NCBI: 5896
MIM: 179615
HGNC: 9831
Ensembl: ENSG00000166349

Variants:

dbSNP: 5896
ClinVar: 5896
TCGA: ENSG00000166349
COSMIC: RAG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166349ENST00000299440P15918
ENSG00000166349ENST00000534663P15918

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Primary immunodeficiencyKEGGko05340
Primary immunodeficiencyKEGGhsa05340
FoxO signaling pathwayKEGGhsa04068
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-7 signalingREACTOMER-HSA-1266695
Signal TransductionREACTOMER-HSA-162582
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK6/MAPK4 signalingREACTOMER-HSA-5687128

References

Pubmed IDYearTitleCitations
198984812009Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.131
164656222006Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.91
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
184633792008An immunodeficiency disease with RAG mutations and granulomas.65
191163882009A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility.63
242902842014A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.53
269961992016Human RAG mutations: biochemistry and clinical implications.52
215025422011Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.44
204890562010Hypomorphic Rag mutations can cause destructive midline granulomatous disease.42
262341562015RAG Represents a Widespread Threat to the Lymphocyte Genome.40

Citation

Dessen P

RAG1 (recombination activating 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/350/rag1