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    RAD50 RAD50 homolog (S. cerevisiae) [ Homo sapiens (human) ]

    Gene ID: 10111, updated on 30-Jun-2015
    Official Symbol
    RAD50provided by HGNC
    Official Full Name
    RAD50 homolog (S. cerevisiae)provided by HGNC
    Primary source
    HGNC:HGNC:9816
    See related
    HPRD:04950; MIM:604040
    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
    NBSLD; RAD502; hRad50
    Summary
    The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
    Orthologs
    See RAD50 in Epigenomics, MapViewer
    Location:
    5q31
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (132556924..132644621)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131892616..131980313)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene skin secretory protein xP2-like Neighboring gene interleukin 5 Neighboring gene T helper type 2 locus control region associated RNA Neighboring gene uncharacterized LOC105379176 Neighboring gene interleukin 13 Neighboring gene interleukin 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Nijmegen breakage syndrome-like disorder
    MedGen: C2751318 OMIM: 613078 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
    NHGRI GWA Catalog
    A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
    NHGRI GWA Catalog
    Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.
    NHGRI GWA Catalog
    Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to 3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to ATP-dependent DNA helicase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding, bridging IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to single-stranded DNA endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA duplex unwinding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA repair TAS
    Traceable Author Statement
    more info
     
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome organization involved in meiosis IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair TAS
    Traceable Author Statement
    more info
     
    double-strand break repair via homologous recombination TAS
    Traceable Author Statement
    more info
     
    nucleic acid phosphodiester bond hydrolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    reciprocal meiotic recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mitotic recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomere maintenance TAS
    Traceable Author Statement
    more info
    PubMed 
    telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Mre11 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    pronucleus IEA
    Inferred from Electronic Annotation
    more info
     
    site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_021151.1 RefSeqGene

      Range
      5001..92698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005732.3NP_005723.2  DNA repair protein RAD50

      See identical proteins and their annotated locations for NP_005723.2

      Status: REVIEWED

      Source sequence(s)
      AC004041, BC140005, DB112912, U63139
      Consensus CDS
      CCDS34233.1
      UniProtKB/TrEMBL
      A5D6Y3
      UniProtKB/Swiss-Prot
      Q92878
      Conserved Domains (3) summary
      TIGR00606
      Location:21312
      rad50; rad50
      cd03240
      Location:11951297
      ABC_Rad50; ATP-binding cassette domain of Rad50
      pfam04423
      Location:658713
      Rad50_zn_hook; Rad50 zinc hook motif

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

      Range
      132556924..132644621
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      131325888..131413608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_133482.1: Suppressed sequence

      Description
      NM_133482.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.