RAG1 Gene
protein-coding GIFtS: 61
GCID: GC11P036546
|
|
recombination activating gene 1
| |
Aliases
for RAG1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Recombination Activating Gene 11 2 | | MGC433211 | | RNF741 2 3 | | Recombination Activating Protein 12 | | RAG-12 3 | | V(D)J Recombination-Activating Protein 12 | | RING Finger Protein 742 3 | | |
Export aliases for RAG1 gene to outside databasesPrevious GC identifers: GC11P038146 GC11P037266 GC11P036628 GC11P036553 GC11P036292 |
Summaries
for RAG1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RAG1:
The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded proteinis involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defectsin this gene can be the cause of several diseases. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: RAG1_HUMAN, P15918Function: Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase duringV(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes indeveloping B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J(joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signalsequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and theadjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNAcleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer,generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a directtransesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends.The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a rolein pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele toenforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individualB-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependentrepositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex andrecombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as a E3 ubiquitin-proteinligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining stepof V(D)J recombination. Mediates polyubiquitination of KPNA1 (By similarity)
|
Genomic Views
for RAG1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_009237.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RAG1 gene promoter:
STAT1 GATA-3 AP-1 ATF-2 FOXD3 STAT1beta STAT1alpha GATA-1 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for RAG1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAG1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11p13 Ensembl cytogenetic band: 11p12 HGNC cytogenetic band: 11p13RAG1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P036546: view genomic region
(about GC identifiers)
Start:
|
36,532,259 bp from pter |
End:
|
36,614,706 bp from pter |
Size:
|
82,448 bases |
Orientation:
|
plus strand |
|
Proteins
for RAG1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RAG1_HUMAN, P15918 (See
protein sequence)Recommended Name: V(D)J recombination-activating protein 1 Size: 1043 amino acids; 119097 Da
Cofactor: Binds 1 divalent metal cation per subunit. Magnesium or manganese (By similarity)
Subunit: Homodimer. Component of the RAG complex composed of core components RAG1 and RAG2, and associated componentHMGB1 or HMGB2 (By similarity)
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAM77798.1; Type=Erroneous gene model prediction;
Secondary accessions: Q8NER2Explore the universe of human proteins at neXtProt for RAG1: NX_P15918
Post-translational modifications:
Autoubiquitinated in the presence of CDC34/UBCH3 (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P15918
RAG1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000439.1
ENSEMBL proteins: ENSP00000434610 ENSP00000299440
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
RAG1 for ontologies About GeneDecksing
RAG1 Antibody Products:
Assay Products for RAG1: |
Protein
Domains /
Families
for RAG1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RAG1 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P15918ProtoNet protein and cluster: P15918 1 Blocks protein family: IPB001841 Zn-finger
UniProtKB/Swiss-Prot: RAG1_HUMAN, P15918Domain: The RING-type zinc finger mediates the E3 ubiquitin-protein ligase activity (By similarity)Domain: The NBD (nonamer binding) DNA-binding domain mediates the specific binding to the nonamer RSS motif by forminga tightly interwoven homodimer that binds and synapses 2 nonamer elements, with each NBD making contact with both DNAmolecules. Each RSS is composed of well-conserved heptamer (consensus 5'-CACAGTG-3') and nonamer (consensus5'-ACAAAAACC-3') sequences separated by a spacer of either 12 bp or 23 bp (By similarity)Similarity: Belongs to the RAG1 familySimilarity: Contains 1 NBD (nonamer binding) DNA-binding domainSimilarity: Contains 1 RAG1-type zinc fingerSimilarity: Contains 1 RING-type zinc finger |
Function
for RAG1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RAG1_HUMAN, P15918Function: Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase duringV(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes indeveloping B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J(joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signalsequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and theadjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNAcleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer,generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a directtransesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends.The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a rolein pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele toenforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individualB-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependentrepositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex andrecombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as a E3 ubiquitin-proteinligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining stepof V(D)J recombination. Mediates polyubiquitination of KPNA1 (By similarity) Genatlas biochemistry entry for RAG1:recombination V(D)J activating gene 1,acting,in conjuction with RAG2,at a pair of recombination signal sequences andmaking double strand breaks,next to these signals,located 8kb apart from RAG2,convergently oriented
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAG1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAG1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: RAG1 (NM_000448) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RAG1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAG1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAG1 |
Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table
RAG1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for RAG1:
Animal Models:
Mouse knock-outs for RAG1: Rag1tm1Mom Rag1tm1Bal
15/21 MGI mutant phenotypes (inferred from 11 alleles ) (MGI details for Rag1) (see all 21):
RAG1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for RAG1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Lymphocyte Signaling | | | 2 | Primary immunodeficiency | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for RAG1
1 
Kegg Pathway (Kegg details for RAG1):
RAG1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAG1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 18)
5/40 Interacting proteins for RAG1 (P159181, 2, 3 ENSP000002994404) via UniProtKB, MINT, STRING, and/or I2D (see all 40)About this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table
RAG1 for ontologies About GeneDecksing
|
Drugs & Compounds
for RAG1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
RAG1 for compounds About GeneDecksing
 Browse Tocris compounds for RAG1
2 HMDB Compounds for RAG1 About this table
10/13 Novoseek chemical compound relationships for RAG1 gene (see all 13) About this table
Search CenterWatch for drugs/clinical trials and news about RAG1
|
Transcripts
for RAG1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RAG1 gene: NM_000448.2 Unigene Clusters for RAG1: Recombination activating gene 1 Hs.73958 [show with all ESTs], Hs.677010 [show with all ESTs]Unigene Representative Sequences: NM_000448, BC0373443 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000529126 ENST00000534663(uc001mwt.3) ENST00000299440(uc001mwu.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAG1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAG1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: RAG1 (NM_000448) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RAG1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAG1 |
Additional cDNA sequence: AY235717.1 BC037344.2 4 DOTS entries: DT.445525 DT.91676360 DT.95177790 DT.91672223 23 AceView cDNA sequences: BM457041 BM469208 BQ216220 BC037344 BX456469 BG390092 BX644208 NM_000448 M29474 T25427 BQ226214 CD608568 T28965 AW063930 BI459026 BX414728 BM193498 CD608566 AV755803 N92955 AW950957 AA909300 AA283244
GeneLoc Exon Structure
|
Expression
for RAG1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RAG1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTGCTAAA
About this image
See RAG1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RAG1
SOURCE GeneReport for Unigene clusters: Hs.73958 Hs.677010
UniProtKB/Swiss-Prot: RAG1_HUMAN, P15918Tissue specificity: Maturing lymphoid cells
SABiosciences Expression via Pathway-Focused PCR Arrays including RAG1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RAG1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RAG1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAG1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAG1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAG1 |
Orthologs
for RAG1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for RAG1 gene from 4/11 species (see all 11) About this table
ENSEMBL Gene Tree for RAG1 (if available)
TreeFam Gene Tree for RAG1 (if available) |
Paralogs
for RAG1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for RAG1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RAG1 (36532259 - 36614706 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for RAG1
1 CNV: 5274
Human Gene Mutation Database (HGMD): RAG1
Locus Specific Mutation Databases (LSDB): RAG1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAG1 |
|
Disorders
/ Diseases
for RAG1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RAG1 for disorders About GeneDecksing
OMIM gene information: 179615
OMIM disorders: 601457 603554 609889 233650
UniProtKB/Swiss-Prot: RAG1_HUMAN, P15918
Defects in RAG1 are a cause of combined cellular and humoral immune defects with granulomas (CHIDG)[MIM:233650]. CHIDG is an immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs.Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue onultrasonography Defects in RAG1 are a cause of severe combined immunodeficiency autosomal recessiveT-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]. A form of severe combinedimmunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterizedby impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patientspresent in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all typesof SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development Defects in RAG1 are a cause of Omenn syndrome (OS) [MIM:603554]. OS is a severe immunodeficiency characterizedby the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels Defects in RAG1 are the cause of alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severecytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889]. An immunological disorder characterized byoligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminatedcytomegalovirus infection and autoimmune cytopenia
20/56  diseases for RAG1 (see all 56): About MalaCardsalpha/beta t-cell lymphopenia with gamma/delta t-cell expansion alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity combined cellular and humoral immune defects with granulomas severe combined immunodeficiency
diffuse large b-cell lymphoma cytomegalovirus infection combined immunodeficiency b-cell lymphomas
lymphopenia omenn syndrome artemis deficiency non-hodgkin lymphoma
complex v iron overload infectious mononucleosis ataxia telangiectasia
lymphoblastic leukemia hereditary neuropathies burkitt's lymphoma leukemia/lymphoma
2 diseases from the University of Copenhagen DISEASES database for RAG1:Omenn syndrome Severe combined immunodeficiency 10/25 Novoseek disease relationships for RAG1 gene (see all 25) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| omenn syndrome |
93.8 |
26 |
18056378 (3), 19830075 (3), 19011808 (2), 11520796 (2) (see all 17) |
| severe combined immunodeficiency |
79.6 |
11 |
16061569 (2), 15845893 (1), 14726805 (1), 16527199 (1) (see all 10) |
| immunodeficiency |
38.3 |
14 |
11520796 (2), 1428003 (1), 11908269 (1), 16276422 (1) (see all 13) |
| t-all |
38 |
4 |
12446444 (4) |
| lymphoblastic leukemia acute |
36.2 |
3 |
8391873 (1), 7987804 (1), 8445948 (1) |
| leukemia |
28.3 |
3 |
8371592 (1), 18005092 (1), 15611260 (1) |
| hereditary neuropathy |
28.1 |
1 |
15607947 (1) |
| leukemia t-cell |
21.4 |
1 |
17059760 (1) |
| lymphoma lymphoblastic |
20 |
1 |
8391873 (1) |
| burkitt lymphoma |
18.9 |
2 |
8445948 (1) |
Human Genome Epidemiology (HuGE) Navigator: RAG1 (25 documents)
Tumor Gene Database (TGDB): RAG1
Export disorders for RAG1 gene to outside databases
|
Publications
for RAG1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for RAG1 gene, integrated from 9 sources (see all 290):
(articles sorted by number of sources associating them with RAG1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1. (PubMed id 8052633)1, 2, 9 Cortes P.... Baltimore D. (1994)
- Human RAG2, like RAG1, is on chromosome 11 band p13 a nd therefore not linked to ataxia telangiectasia complementation groups. (PubMed id 1283330)1, 3, 9 Sherrington P.D....Rabbitts T.H. (1992)
- A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. (PubMed id 16276422)1, 2, 9 de Villartay J.-P....Le Deist F. (2005)
- V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. (PubMed id 11133745)1, 2, 9 Villa A.... Schwarz K. (2001)
- Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (PubMed id 10606976)1, 2, 9 Wada T.... Yachie A. (2000)
- Partial V(D)J recombination activity leads to Omenn syndrome. (PubMed id 9630231)1, 2, 9 Villa A....Spanopoulou E. (1998)
- Novel mutations in RAG1/2 and ADA genes in Israeli pa tients presenting with T-B-SCID or Omenn syndrome. (PubMed id 21624848)1, 2 Dalal I....Leshinsky-Silver E. (2011)
- Clinical characteristics and molecular analysis of th ree Chinese children with Omenn syndrome. (PubMed id 21771083)1, 2 Zhang Z.Y....Yang X.Q. (2011)
- Highly variable clinical phenotypes of hypomorphic RA G1 mutations. (PubMed id 20956421)1, 2 Avila E.M....Holland S.M. (2010)
- An immunodeficiency disease with RAG mutations and granulomas. (PubMed id 18463379)1, 2 Schuetz C....Niehues T. (2008)
|
External Searches for RAG1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RAG1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RAG1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RAG1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for RAG1 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for RAG1 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAG1 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/rag1/ | | RAG1base | http://bioinf.uta.fi/RAG1base/ |
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About This Section
| Patent Information for RAG1 gene:
Search GeneIP for patents involving RAG1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for RAG1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for RAG1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RAG1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RAG1 | | | OriGene Protein Over-expression Lysate for RAG1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for RAG1 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAG1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAG1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for RAG1 | | OriGene Custom Protein Services for RAG1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RAG1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAG1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAG1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RAG1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAG1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAG1 |
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| | Antibodies & Assays for RAG1 |
| | | | Search Tocris compounds for RAG1 |
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 | | | RAG1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAG1 |
|  |  |  | | | | Search ThermoFisher Antibodies for RAG1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAG1 |
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