Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RAG1 (recombination activating gene 1)

Identity

Other namesRAG-1
RNF74
HGNC (Hugo) RAG1
LocusID (NCBI) 5896
Location 11p12
Location_base_pair Starts at 36589563 and ends at 36601310 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)RAG1   9831
Cards
Entrez_Gene (NCBI)RAG1  5896  recombination activating gene 1
GeneCards (Weizmann)RAG1
Ensembl hg19 (Hinxton)ENSG00000166349 [Gene_View]  chr11:36589563-36601310 [Contig_View]  RAG1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166349 [Gene_View]  chr11:36589563-36601310 [Contig_View]  RAG1 [Vega]
ICGC DataPortalENSG00000166349
cBioPortalRAG1
AceView (NCBI)RAG1
Genatlas (Paris)RAG1
WikiGenes5896
SOURCE (Princeton)RAG1
Genomic and cartography
GoldenPath hg19 (UCSC)RAG1  -     chr11:36589563-36601310 +  11p12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RAG1  -     11p12   [Description]    (hg38-Dec_2013)
EnsemblRAG1 - 11p12 [CytoView hg19]  RAG1 - 11p12 [CytoView hg38]
Mapping of homologs : NCBIRAG1 [Mapview hg19]  RAG1 [Mapview hg38]
OMIM179615   233650   601457   603554   609889   
Gene and transcription
Genbank (Entrez)BC037344 M29474
RefSeq transcript (Entrez)NM_000448
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_007528 NT_009237 NW_001838022 NW_004929378
Consensus coding sequences : CCDS (NCBI)RAG1
Cluster EST : UnigeneHs.677010 [ NCBI ]
CGAP (NCI)Hs.677010
Alternative Splicing : Fast-db (Paris)GSHG0004765
Alternative Splicing GalleryENSG00000166349
Gene ExpressionRAG1 [ NCBI-GEO ]     RAG1 [ SEEK ]   RAG1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15918 (Uniprot)
NextProtP15918  [Medical]
With graphics : InterProP15918
Splice isoforms : SwissVarP15918 (Swissvar)
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.-3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)NBD (PS51487)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)RAG1    RAG_nonamer-bd_dom    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd    Znf_C3HC4_RING-type    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS    Znf_VDJ_recomb-activ_1   
Related proteins : CluSTrP15918
Domain families : Pfam (Sanger)RAG1 (PF12940)    zf-C3HC4 (PF00097)    zf-RAG1 (PF10426)   
Domain families : Pfam (NCBI)pfam12940    pfam00097    pfam10426   
Domain families : Smart (EMBL)RING (SM00184)  ZnF_C2H2 (SM00355)  
DMDM Disease mutations5896
Blocks (Seattle)P15918
Human Protein AtlasENSG00000166349
Peptide AtlasP15918
HPRD01556
IPIIPI00013914   IPI00975927   
Protein Interaction databases
DIP (DOE-UCLA)P15918
IntAct (EBI)P15918
FunCoupENSG00000166349
BioGRIDRAG1
IntegromeDBRAG1
STRING (EMBL)RAG1
Ontologies - Pathways
QuickGOP15918
Ontology : AmiGOadaptive immune response  pre-B cell allelic exclusion  DNA binding  endonuclease activity  ubiquitin-protein transferase activity  protein binding  nucleus  DNA recombination  immune response  zinc ion binding  histone monoubiquitination  acid-amino acid ligase activity  B cell differentiation  T cell differentiation in thymus  V(D)J recombination  histone binding  protein homodimerization activity  T cell homeostasis  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  sequence-specific DNA binding  regulation of T cell differentiation  metal ion binding  thymus development  protein autoubiquitination  negative regulation of thymocyte apoptotic process  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIadaptive immune response  pre-B cell allelic exclusion  DNA binding  endonuclease activity  ubiquitin-protein transferase activity  protein binding  nucleus  DNA recombination  immune response  zinc ion binding  histone monoubiquitination  acid-amino acid ligase activity  B cell differentiation  T cell differentiation in thymus  V(D)J recombination  histone binding  protein homodimerization activity  T cell homeostasis  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  sequence-specific DNA binding  regulation of T cell differentiation  metal ion binding  thymus development  protein autoubiquitination  negative regulation of thymocyte apoptotic process  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGFoxO signaling pathway    Primary immunodeficiency   
Protein Interaction DatabaseRAG1
DoCM (Curated mutations)RAG1
Wikipedia pathwaysRAG1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerRAG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAG1
dbVarRAG1
ClinVarRAG1
1000_GenomesRAG1 
Exome Variant ServerRAG1
SNP (GeneSNP Utah)RAG1
SNP : HGBaseRAG1
Genetic variants : HAPMAPRAG1
Genomic VariantsRAG1  RAG1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000166349 
Somatic Mutations in Cancer : COSMICRAG1 
CONAN: Copy Number AnalysisRAG1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:36589563-36601310
Mutations and Diseases : HGMDRAG1
OMIM179615    233650    601457    603554    609889   
MedgenRAG1
NextProtP15918 [Medical]
GENETestsRAG1
Disease Genetic AssociationRAG1
Huge Navigator RAG1 [HugePedia]  RAG1 [HugeCancerGEM]
snp3D : Map Gene to Disease5896
DGIdb (Drug Gene Interaction db)RAG1
General knowledge
Homologs : HomoloGeneRAG1
Homology/Alignments : Family Browser (UCSC)RAG1
Phylogenetic Trees/Animal Genes : TreeFamRAG1
Chemical/Protein Interactions : CTD5896
Chemical/Pharm GKB GenePA34185
Clinical trialRAG1
Cancer Resource (Charite)ENSG00000166349
Other databases
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
CoreMineRAG1
GoPubMedRAG1
iHOPRAG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:06:03 CET 2014
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