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    Rag1 recombination activating 1 [ Mus musculus (house mouse) ]

    Gene ID: 19373, updated on 27-Sep-2022

    Summary

    Official Symbol
    Rag1provided by MGI
    Official Full Name
    recombination activating 1provided by MGI
    Primary source
    MGI:MGI:97848
    See related
    Ensembl:ENSMUSG00000061311 AllianceGenome:MGI:97848
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Rag-1
    Summary
    Enables several functions, including protein homodimerization activity; ubiquitin protein ligase activity; and zinc ion binding activity. Involved in immune system development; positive regulation of T cell differentiation; and protein ubiquitination. Acts upstream of or within several processes, including T cell homeostasis; hematopoietic or lymphoid organ development; and negative regulation of apoptotic process. Located in nucleus. Is expressed in several structures, including arterial system; early conceptus; genitourinary system; gut; and hemolymphoid system. Human ortholog(s) of this gene implicated in Omenn syndrome; combined cellular and humoral immune defects with granulomas; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Orthologous to human RAG1 (recombination activating 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward thymus adult (RPKM 117.3) See more
    Orthologs
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    Genomic context

    See Rag1 in Genome Data Viewer
    Location:
    2 E2; 2 53.88 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (101468597..101479877, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (101638252..101649532, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene intraflagellar transport associated protein Neighboring gene VISTA enhancer mm1328 Neighboring gene recombination activating gene 2 Neighboring gene predicted gene, 34041 Neighboring gene TNF receptor-associated factor 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: Iftap

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to double-stranded DNA endodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables endonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables nuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within B cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in B cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within DNA recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within T cell differentiation in thymus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in T cell differentiation in thymus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within T cell homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in V(D)J recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within V(D)J recombination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in V(D)J recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in V(D)J recombination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in adaptive immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within adaptive immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in histone monoubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in histone monoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of T cell apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of thymocyte apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pre-B cell allelic exclusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in pre-B cell allelic exclusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of T cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of behavioral fear response ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within thymus development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in visual learning ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of DNA recombinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of endodeoxyribonuclease complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    V(D)J recombination-activating protein 1
    Names
    recombinase activating gene 1
    recombination activating gene 1
    recombination activating protein 1
    NP_033045.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009019.2NP_033045.2  V(D)J recombination-activating protein 1

      See identical proteins and their annotated locations for NP_033045.2

      Status: VALIDATED

      Source sequence(s)
      AK162974, AL929569
      Consensus CDS
      CCDS16463.1
      UniProtKB/Swiss-Prot
      A2AVN8, P15919
      UniProtKB/TrEMBL
      Q3TR87
      Related
      ENSMUSP00000077584.6, ENSMUST00000078494.6
      Conserved Domains (4) summary
      pfam00097
      Location:290328
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam10426
      Location:351380
      zf-RAG1; Recombination-activating protein 1 zinc-finger domain
      pfam12560
      Location:12288
      RAG1_imp_bd; RAG1 importin binding
      pfam12940
      Location:3861024
      RAG1; Recombination-activation protein 1 (RAG1)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      101468597..101479877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)