Property Summary

NCBI Gene PubMed Count 115
Grant Count 542
R01 Count 312
Funding $76,702,581.09
PubMed Score 1061.08
PubTator Score 451.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -3.830 0.000

Synonym

Accession P15918 E9PPC4 Q8IY72 Q8NER2 RAG-1
Symbols RAG-1
RNF74

Gene

 GO Component (2)

Gene RIF (86)

PMID Text
26996199 molecular and cellular mechanisms that account for the expanding range of clinical and immunological phenotypes of human RAG deficiency (review)
26689875 study reported 4 patients with RAG1 deficiency: classic severe combined immune deficiency (SCID) was seen in 2 patients, Omenn syndrome was observed in 1 patient and atypical SCID was seen in one patient
26596586 most common mutation in East Slavs children with Omenn syndrome; associated with more favorable prognosis after hematopoietic stem cells transplantation
26234156 Study reports that RAG1 associates with chromatin at thousands of active promoters and enhancers in the genome of developing lymphocytes. The mouse and human genomes appear to have responded by reducing the abundance of "cryptic" recombination signals near RAG1 binding sites.
25976673 compiled 751 genetic variants in human RAG1 gene using 1092 human genomes
25869295 This study reports on the prevalence of RAG1 and RAG2 mutations in ten severe combined immunodeficiency disorder patients in Egypt.
25849362 These findings provide insight into the role of this poorly understood region of Rag1 and support the role of Rag1 in a post-cleavage stage of recombination
25831509 analysis of individual molecular events of RAG-mediated V(D)J DNA cleavage
25745109 analysis of regions of RAG1 necessary for interaction with RAG2 and measurement of the RAG1-RAG2 binding affinity
25327637 Investigate the factors that regulate RAG1 and RAG2 cleavage on non-B DNA structures. We find that RAG binding and cleavage on heteroduplex DNA is dependent on the length of the double-stranded flanking region.
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AA Sequence

MAASFPPTLGLSSAPDEIQHPHIKFSEWKFKLFRVRSFEKTPEEAQKEKKDSFEGKPSLEQSPAVLDKAD      1 - 70
GQKPVPTQPLLKAHPKFSKKFHDNEKARGKAIHQANLRHLCRICGNSFRADEHNRRYPVHGPVDGKTLGL     71 - 140
LRKKEKRATSWPDLIAKVFRIDVKADVDSIHPTEFCHNCWSIMHRKFSSAPCEVYFPRNVTMEWHPHTPS    141 - 210
CDICNTARRGLKRKSLQPNLQLSKKLKTVLDQARQARQHKRRAQARISSKDVMKKIANCSKIHLSTKLLA    211 - 280
VDFPEHFVKSISCQICEHILADPVETNCKHVFCRVCILRCLKVMGSYCPSCRYPCFPTDLESPVKSFLSV    281 - 350
LNSLMVKCPAKECNEEVSLEKYNHHISSHKESKEIFVHINKGGRPRQHLLSLTRRAQKHRLRELKLQVKA    351 - 420
FADKEEGGDVKSVCMTLFLLALRARNEHRQADELEAIMQGKGSGLQPAVCLAIRVNTFLSCSQYHKMYRT    421 - 490
VKAITGRQIFQPLHALRNAEKVLLPGYHHFEWQPPLKNVSSSTDVGIIDGLSGLSSSVDDYPVDTIAKRF    491 - 560
RYDSALVSALMDMEEDILEGMRSQDLDDYLNGPFTVVVKESCDGMGDVSEKHGSGPVVPEKAVRFSFTIM    561 - 630
KITIAHSSQNVKVFEEAKPNSELCCKPLCLMLADESDHETLTAILSPLIAEREAMKSSELMLELGGILRT    631 - 700
FKFIFRGTGYDEKLVREVEGLEASGSVYICTLCDATRLEASQNLVFHSITRSHAENLERYEVWRSNPYHE    701 - 770
SVEELRDRVKGVSAKPFIETVPSIDALHCDIGNAAEFYKIFQLEIGEVYKNPNASKEERKRWQATLDKHL    771 - 840
RKKMNLKPIMRMNGNFARKLMTKETVDAVCELIPSEERHEALRELMDLYLKMKPVWRSSCPAKECPESLC    841 - 910
QYSFNSQRFAELLSTKFKYRYEGKITNYFHKTLAHVPEIIERDGSIGAWASEGNESGNKLFRRFRKMNAR    911 - 980
QSKCYEMEDVLKHHWLYTSKYLQKFMNAHNALKTSGFTMNPQASLGDPLGIEDSLESQDSMEF           981 - 1043
//

Text Mined References (118)

PMID Year Title
26996199 2016 Human RAG mutations: biochemistry and clinical implications.
26689875 2015 Three faces of recombination activating gene 1 (RAG1) mutations.
26596586 2016 Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).
26234156 2015 RAG Represents a Widespread Threat to the Lymphocyte Genome.
25976673 2015 Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
25869295 2015 Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
25849362 2015 Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
25831509 2015 Single-molecule analysis of RAG-mediated V(D)J DNA cleavage.
25745109 2015 Mapping and Quantitation of the Interaction between the Recombination Activating Gene Proteins RAG1 and RAG2.
25327637 2015 Structure-specific nuclease activity of RAGs is modulated by sequence, length and phase position of flanking double-stranded DNA.
More...