RAG1 (recombination activating 1)

2003-05-01  

Identity

HGNC
RAG1
LOCATION
11p12
LOCUSID
5896
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
377247032024Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.1
377247032024Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.1
362794172023Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.11
366751192023First Report of FARSA in the Regulation of Cell Cycle and Survival in Mantle Cell Lymphoma Cells via PI3K-AKT and FOXO1-RAG1 Axes.2
362794172023Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.11
366751192023First Report of FARSA in the Regulation of Cell Cycle and Survival in Mantle Cell Lymphoma Cells via PI3K-AKT and FOXO1-RAG1 Axes.2
359026382022Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells.14
361660512022Expression and clinical significance of RAG1 in myelodysplastic syndromes.0
359026382022Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells.14
361660512022Expression and clinical significance of RAG1 in myelodysplastic syndromes.0
337961202021The Interplay Between Chromatin Architecture and Lineage-Specific Transcription Factors and the Regulation of Rag Gene Expression.14
339548792021Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.2
339879552021RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children.2
346445842021RAG2 abolishes RAG1 aggregation to facilitate V(D)J recombination.10
337961202021The Interplay Between Chromatin Architecture and Lineage-Specific Transcription Factors and the Regulation of Rag Gene Expression.14

Citation

Dessen P

RAG1 (recombination activating 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/350/rag1-(recombination-activating-1)