Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RAG1 Gene

Aliases for RAG1 Gene

  • Recombination Activating 1 2 3 5
  • RING Finger Protein 74 2 3 4
  • V(D)J Recombination-Activating Protein 1 2 3
  • Recombination Activating Protein 1 2 3
  • Recombination Activating Gene 1 2 3
  • RAG-1 3 4
  • RNF74 3 4

External Ids for RAG1 Gene

Previous GeneCards Identifiers for RAG1 Gene

  • GC11P038146
  • GC11P037266
  • GC11P036628
  • GC11P036553
  • GC11P036292

Summaries for RAG1 Gene

Entrez Gene Summary for RAG1 Gene

  • The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]

GeneCards Summary for RAG1 Gene

RAG1 (Recombination Activating 1) is a Protein Coding gene. Diseases associated with RAG1 include Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity and Combined Cellular And Humoral Immune Defects With Granulomas. Among its related pathways are FoxO signaling pathway and Interleukin-7 signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for RAG1 Gene

  • Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing 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 signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage 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 direct transesterification 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 H3 trimethylated at Lys-4 (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as an E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination. Mediates polyubiquitination of KPNA1 (By similarity).

Additional gene information for RAG1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAG1 Gene

Genomics for RAG1 Gene

GeneHancer (GH) Regulatory Elements for RAG1 Gene

Promoters and enhancers for RAG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J036507 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.1 64 5.2 HDGF ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 POLR2B ZNF213 E2F8 TRAF6 RAG1 GC11P036512 GC11P036511 ENSG00000280331 PRR5L COMMD9 GC11M036546
GH11J036567 Promoter/Enhancer 0.7 EPDnew dbSUPER 660.4 +57.6 57594 0.1 RAG1 C11orf74 RAG2 TRAF6 GC11P036555
GH11J036543 Promoter 0.5 EPDnew 661.9 +32.9 32874 0.1 RAG1 TRAF6 C11orf74 RAG2 PRR5L GC11M036546
GH11J036596 Enhancer 0.5 FANTOM5 dbSUPER 40 +86.1 86120 0.4 RAG2 RAG1 C11orf74
GH11J036569 Enhancer 0.4 FANTOM5 dbSUPER 34.1 +58.9 58891 0.3 RAG1 RAG2 C11orf74 TRAF6 GC11P036555
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAG1 gene promoter:
  • AP-1
  • GATA-1
  • c-Jun
  • ATF-2
  • GATA-3
  • STAT1beta
  • STAT1alpha
  • STAT1
  • FOXD3

Genomic Locations for RAG1 Gene

Genomic Locations for RAG1 Gene
chr11:36,510,400-36,593,156
(GRCh38/hg38)
Size:
82,757 bases
Orientation:
Plus strand
chr11:36,532,259-36,614,706
(GRCh37/hg19)
Size:
82,448 bases
Orientation:
Plus strand

Genomic View for RAG1 Gene

Genes around RAG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAG1 Gene

Proteins for RAG1 Gene

  • Protein details for RAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15918-RAG1_HUMAN
    Recommended name:
    V(D)J recombination-activating protein 1
    Protein Accession:
    P15918
    Secondary Accessions:
    • E9PPC4
    • Q8IY72
    • Q8NER2

    Protein attributes for RAG1 Gene

    Size:
    1043 amino acids
    Molecular mass:
    119097 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer. Component of the RAG complex composed of core components RAG1 and RAG2, and associated component HMGB1 or HMGB2. Interacts with DCAF1, leading to recruitment of the CUL4A-RBX1-DDB1-DCAF1/VPRBP complex to ubiquitinate proteins and limit error-prone repair during V(D)J recombination (By similarity).
    SequenceCaution:
    • Sequence=AAM77798.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for RAG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAG1 Gene

Post-translational modifications for RAG1 Gene

Other Protein References for RAG1 Gene

Antibody Products

  • Abcam antibodies for RAG1
  • Boster Bio Antibodies for RAG1
  • Santa Cruz Biotechnology (SCBT) Antibodies for RAG1

No data available for DME Specific Peptides for RAG1 Gene

Domains & Families for RAG1 Gene

Gene Families for RAG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RAG1 Gene

Graphical View of Domain Structure for InterPro Entry

P15918

UniProtKB/Swiss-Prot:

RAG1_HUMAN :
  • The RING-type zinc finger mediates the E3 ubiquitin-protein ligase activity.
  • Belongs to the RAG1 family.
Domain:
  • The RING-type zinc finger mediates the E3 ubiquitin-protein ligase activity.
  • The NBD (nonamer binding) DNA-binding domain mediates the specific binding to the nonamer RSS motif by forming a tightly interwoven homodimer that binds and synapses 2 nonamer elements, with each NBD making contact with both DNA molecules. Each RSS is composed of well-conserved heptamer (consensus 5-CACAGTG-3) and nonamer (consensus 5-ACAAAAACC-3) sequences separated by a spacer of either 12 bp or 23 bp.
Family:
  • Belongs to the RAG1 family.
genes like me logo Genes that share domains with RAG1: view

Function for RAG1 Gene

Molecular function for RAG1 Gene

UniProtKB/Swiss-Prot Function:
Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing 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 signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage 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 direct transesterification 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 H3 trimethylated at Lys-4 (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as an E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination. Mediates polyubiquitination of KPNA1 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
GENATLAS Biochemistry:
recombination V(D)J activating gene 1,acting,in conjuction with RAG2,at a pair of recombination signal sequences and making double strand breaks,next to these signals,located 8kb apart from RAG2,convergently oriented

Gene Ontology (GO) - Molecular Function for RAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9630231
GO:0003824 catalytic activity IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity ISS --
GO:0004842 ubiquitin-protein transferase activity ISS,IEA --
genes like me logo Genes that share ontologies with RAG1: view
genes like me logo Genes that share phenotypes with RAG1: view

Human Phenotype Ontology for RAG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAG1 Gene

MGI Knock Outs for RAG1:
  • Rag1 Rag1<tm1Mom>
  • Rag1 Rag1<tm1Bal>
  • Rag1 Rag1<tm1(GFP)Imku>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for RAG1 Gene

Localization for RAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAG1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAG1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with RAG1: view

Pathways & Interactions for RAG1 Gene

genes like me logo Genes that share pathways with RAG1: view

Pathways by source for RAG1 Gene

SIGNOR curated interactions for RAG1 Gene

Activates:

Gene Ontology (GO) - Biological Process for RAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002331 pre-B cell allelic exclusion ISS,IEA --
GO:0006310 DNA recombination TAS 9630231
GO:0006325 chromatin organization IEA --
GO:0006955 immune response TAS 9630231
genes like me logo Genes that share ontologies with RAG1: view

Drugs & Compounds for RAG1 Gene

(12) Drugs for RAG1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
Manganese Approved Nutra 37

(3) Additional Compounds for RAG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAG1: view

Transcripts for RAG1 Gene

mRNA/cDNA for RAG1 Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RAG1 Gene

Recombination activating gene 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAG1 Gene

No ASD Table

Relevant External Links for RAG1 Gene

GeneLoc Exon Structure for
RAG1
ECgene alternative splicing isoforms for
RAG1

Expression for RAG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAG1 Gene

This gene is overexpressed in Spleen (x6.5).

Protein differential expression in normal tissues from HIPED for RAG1 Gene

This gene is overexpressed in Plasma (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RAG1 Gene



Protein tissue co-expression partners for RAG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RAG1 Gene:

RAG1

SOURCE GeneReport for Unigene cluster for RAG1 Gene:

Hs.73958

mRNA Expression by UniProt/SwissProt for RAG1 Gene:

P15918-RAG1_HUMAN
Tissue specificity: Maturing lymphoid cells.

Evidence on tissue expression from TISSUES for RAG1 Gene

  • Blood(3.6)
  • Spleen(2.5)
  • Bone marrow(2.4)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • meninges
  • middle ear
  • neck
  • skull
Thorax:
  • lung
  • thymus
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with RAG1: view

Orthologs for RAG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RAG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAG1 34 33
  • 99.71 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAG1 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAG1 34 33
  • 88.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rag1 33
  • 86.35 (n)
mouse
(Mus musculus)
Mammalia Rag1 16 34 33
  • 86.09 (n)
oppossum
(Monodelphis domestica)
Mammalia RAG-1 34
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAG1 34 33
  • 81.02 (n)
OneToOne
chicken
(Gallus gallus)
Aves RAG1 33
  • 73.03 (n)
lizard
(Anolis carolinensis)
Reptilia RAG1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rag1 33
  • 69.54 (n)
zebrafish
(Danio rerio)
Actinopterygii rag1 34 33 33
  • 63.18 (n)
OneToOne
Species where no ortholog for RAG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAG1 Gene

ENSEMBL:
Gene Tree for RAG1 (if available)
TreeFam:
Gene Tree for RAG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAG1: view image

Paralogs for RAG1 Gene

(1) SIMAP similar genes for RAG1 Gene using alignment to 4 proteins:

  • RAG1_HUMAN
  • E9PPC4_HUMAN
  • Q8IY72_HUMAN
  • Q9BYY2_HUMAN
genes like me logo Genes that share paralogs with RAG1: view

No data available for Paralogs for RAG1 Gene

Variants for RAG1 Gene

Sequence variations from dbSNP and Humsavar for RAG1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1027087402 uncertain-significance, Combined cellular and humoral immune defects with granulomas, Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 36,574,134(+) A/G coding_sequence_variant, missense_variant
rs104894282 pathogenic, Severe combined immunodeficiency, B cell-negative 36,575,624(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs104894283 pathogenic, Severe combined immunodeficiency, B cell-negative 36,576,118(+) T/G coding_sequence_variant, stop_gained
rs104894284 pathogenic, Histiocytic medullary reticulosis, Omenn syndrome (OS) [MIM:603554] 36,574,986(+) G/A coding_sequence_variant, missense_variant
rs104894285 pathogenic, Histiocytic medullary reticulosis, Severe combined immunodeficiency, B cell-negative, Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive, Omenn syndrome (OS) [MIM:603554] 36,574,985(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RAG1 Gene

Variant ID Type Subtype PubMed ID
esv2422305 CNV duplication 17116639
nsv1042014 CNV loss 25217958
nsv467791 CNV gain 19166990
nsv554003 CNV gain 21841781
nsv554004 CNV gain 21841781
nsv832123 CNV gain 17160897

Variation tolerance for RAG1 Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.76; 86.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAG1 Gene

Human Gene Mutation Database (HGMD)
RAG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAG1 Gene

Disorders for RAG1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for RAG1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RAG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAG1_HUMAN
  • Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]: 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 on ultrasonography. {ECO:0000269 PubMed:18463379}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269 PubMed:19912631, ECO:0000269 PubMed:8810255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Omenn syndrome (OS) [MIM:603554]: Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. {ECO:0000269 PubMed:10606976, ECO:0000269 PubMed:11133745, ECO:0000269 PubMed:19912631, ECO:0000269 PubMed:21624848, ECO:0000269 PubMed:21771083, ECO:0000269 PubMed:9630231}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889]: An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia. {ECO:0000269 PubMed:16276422}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RAG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAG1: view

No data available for Genatlas for RAG1 Gene

Publications for RAG1 Gene

  1. RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1. (PMID: 8052633) Cortes P … Baltimore D (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 58
  2. Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy. (PMID: 28216420) Schröder C … Atschekzei F (Clinical immunology (Orlando, Fla.) 2017) 3 4 58
  3. A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency. (PMID: 24996264) Abolhassani H … Hammarström L (The Journal of allergy and clinical immunology 2014) 3 4 58
  4. Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. (PMID: 21624848) Dalal I … Leshinsky-Silver E (Clinical immunology (Orlando, Fla.) 2011) 3 4 58
  5. Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. (PMID: 21771083) Zhang ZY … Yang XQ (Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2011) 3 4 58

Products for RAG1 Gene

Sources for RAG1 Gene

Content
Loading form....