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    RAG1 recombination activating 1 [ Homo sapiens (human) ]

    Gene ID: 5896, updated on 19-Jun-2021

    Summary

    Official Symbol
    RAG1provided by HGNC
    Official Full Name
    recombination activating 1provided by HGNC
    Primary source
    HGNC:HGNC:9831
    See related
    Ensembl:ENSG00000166349 MIM:179615
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RAG-1; RNF74
    Summary
    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]
    Expression
    Broad expression in thyroid (RPKM 2.3), bone marrow (RPKM 1.9) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RAG1 in Genome Data Viewer
    Location:
    11p12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (36510353..36579762)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (36531903..36601312)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene proline rich 5 like Neighboring gene Sharpr-MPRA regulatory region 14138 Neighboring gene TNF receptor associated factor 6 Neighboring gene intraflagellar transport associated protein Neighboring gene recombination activating 2 Neighboring gene uncharacterized LOC107984325

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC43321

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to double-stranded DNA endodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables endonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in T cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in V(D)J recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in V(D)J recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in V(D)J recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adaptive immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in histone monoubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in histone monoubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of thymocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleic acid phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pre-B cell allelic exclusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in pre-B cell allelic exclusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein autoubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    V(D)J recombination-activating protein 1
    Names
    RING finger protein 74
    recombination activating gene 1
    recombination activating protein 1
    NP_000439.2
    NP_001364206.1
    NP_001364207.1
    NP_001364208.1
    NP_001364209.1

    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.

    Genomic

    1. NG_007528.1 RefSeqGene

      Range
      5001..16750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_98

    mRNA and Protein(s)

    1. NM_000448.3NP_000439.2  V(D)J recombination-activating protein 1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 5 encode the same protein.
      Source sequence(s)
      AC139427, M29474
      Consensus CDS
      CCDS7902.1
      Related
      ENSP00000299440.5, ENST00000299440.6
      Conserved Domains (4) summary
      pfam10426
      Location:354383
      zf-RAG1; Recombination-activating protein 1 zinc-finger domain
      pfam12940
      Location:3861021
      RAG1; Recombination-activation protein 1 (RAG1), recombinase
      cd16530
      Location:289334
      RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
      pfam12560
      Location:12290
      RAG1_imp_bd; RAG1 importin binding
    2. NM_001377277.1NP_001364206.1  V(D)J recombination-activating protein 1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 5 encode the same protein.
      Source sequence(s)
      AC061999, AC139427
      Conserved Domains (4) summary
      pfam10426
      Location:354383
      zf-RAG1; Recombination-activating protein 1 zinc-finger domain
      pfam12940
      Location:3861021
      RAG1; Recombination-activation protein 1 (RAG1), recombinase
      cd16530
      Location:289334
      RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
      pfam12560
      Location:12290
      RAG1_imp_bd; RAG1 importin binding
    3. NM_001377278.1NP_001364207.1  V(D)J recombination-activating protein 1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 5 encode the same protein.
      Source sequence(s)
      AC061999, AC139427
      Conserved Domains (4) summary
      pfam10426
      Location:354383
      zf-RAG1; Recombination-activating protein 1 zinc-finger domain
      pfam12940
      Location:3861021
      RAG1; Recombination-activation protein 1 (RAG1), recombinase
      cd16530
      Location:289334
      RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
      pfam12560
      Location:12290
      RAG1_imp_bd; RAG1 importin binding
    4. NM_001377279.1NP_001364208.1  V(D)J recombination-activating protein 1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 5 encode the same protein.
      Source sequence(s)
      AC061999, AC139427
      Conserved Domains (4) summary
      pfam10426
      Location:354383
      zf-RAG1; Recombination-activating protein 1 zinc-finger domain
      pfam12940
      Location:3861021
      RAG1; Recombination-activation protein 1 (RAG1), recombinase
      cd16530
      Location:289334
      RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
      pfam12560
      Location:12290
      RAG1_imp_bd; RAG1 importin binding
    5. NM_001377280.1NP_001364209.1  V(D)J recombination-activating protein 1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 5 encode the same protein.
      Source sequence(s)
      AC061999, AC139427
      Conserved Domains (4) summary
      pfam10426
      Location:354383
      zf-RAG1; Recombination-activating protein 1 zinc-finger domain
      pfam12940
      Location:3861021
      RAG1; Recombination-activation protein 1 (RAG1), recombinase
      cd16530
      Location:289334
      RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
      pfam12560
      Location:12290
      RAG1_imp_bd; RAG1 importin binding

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      36510353..36579762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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