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    RAD50 RAD50 double strand break repair protein [ Homo sapiens (human) ]

    Gene ID: 10111, updated on 10-Dec-2024

    Summary

    Official Symbol
    RAD50provided by HGNC
    Official Full Name
    RAD50 double strand break repair proteinprovided by HGNC
    Primary source
    HGNC:HGNC:9816
    See related
    Ensembl:ENSG00000113522 MIM:604040; AllianceGenome:HGNC:9816
    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]
    Expression
    Ubiquitous expression in testis (RPKM 10.5), thyroid (RPKM 10.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See RAD50 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132556977..132646349)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (133076780..133166151)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131892669..131982041)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:131821689-131822888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131825338-131825985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131827280-131827925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131832117-131833091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23085 Neighboring gene interferon regulatory factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23087 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:131892292-131892952 Neighboring gene interleukin 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131954089-131954264 Neighboring gene Th2 cytokine locus control region Neighboring gene T helper type 2 locus control region associated RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131985148-131985325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23093 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:132000651-132001178 Neighboring gene uncharacterized LOC105379176 Neighboring gene interleukin 13 Neighboring gene interleukin 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (88 hits/1282 screens)

    Associated conditions

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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    General gene information

    Potential readthrough

    Included gene: CARINH

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to 3'-5' exonuclease activity PubMed 
    enables ATP binding  
    enables ATP hydrolysis activity PubMed 
    enables ATP-dependent H2AZ histone chaperone activity  
    enables ATP-dependent H3-H4 histone complex chaperone activity  
    enables DNA binding PubMed 
    enables DNA clamp loader activity  
    contributes_to DNA helicase activity PubMed 
    enables G-quadruplex DNA binding  
    enables chromatin extrusion motor activity  
    enables cohesin loader activity  
    enables double-stranded telomeric DNA binding  
    enables identical protein binding PubMed 
    enables metal ion binding  
    enables protein binding PubMed 
    enables protein serine/threonine kinase activator activity PubMed 
    enables protein-macromolecule adaptor activity PubMed 
    contributes_to single-stranded DNA endodeoxyribonuclease activity PubMed 
    enables single-stranded telomeric DNA binding  
    Items 1 - 25 of 28
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response PubMed 
    involved_in DNA double-strand break processing PubMed 
    involved_in DNA double-strand break processing PubMed 
    involved_in DNA duplex unwinding  
    involved_in DNA duplex unwinding PubMed 
    involved_in DNA recombination PubMed 
    involved_in DNA repair PubMed 
    involved_in DNA strand resection involved in replication fork processing PubMed 
    involved_in DNA strand resection involved in replication fork processing PubMed 
    involved_in R-loop processing PubMed 
    involved_in chromatin looping  
    involved_in chromosome organization involved in meiotic cell cycle  
    involved_in double-strand break repair  
    involved_in double-strand break repair PubMed 
    involved_in double-strand break repair via homologous recombination PubMed 
    involved_in homologous recombination PubMed 
    involved_in mitotic G2/M transition checkpoint PubMed 
    involved_in negative regulation of telomere capping PubMed 
    involved_in positive regulation of kinase activity PubMed 
    involved_in positive regulation of protein autophosphorylation PubMed 
    involved_in positive regulation of telomere maintenance PubMed 
    involved_in reciprocal meiotic recombination PubMed 
    involved_in regulation of mitotic recombination PubMed 
    involved_in telomere maintenance PubMed 
    involved_in telomere maintenance via recombination  
    involved_in telomere maintenance via telomerase  
    involved_in telomere maintenance via telomerase PubMed 
    involved_in telomeric 3' overhang formation PubMed 
    Items 1 - 25 of 28
    Component Evidence Code Pubs
    part_of BRCA1-C complex PubMed 
    NOT part_of Mre11 complex PubMed 
    part_of Mre11 complex PubMed 
    part_of Mre11 complex PubMed 
    part_of Mre11 complex PubMed 
    located_in chromosomal region PubMed 
    located_in chromosome, telomeric region PubMed 
    colocalizes_with chromosome, telomeric region PubMed 
    located_in chromosome, telomeric region PubMed 
    is_active_in condensed nuclear chromosome  
    located_in membrane PubMed 
    located_in nucleoplasm  
    located_in nucleus PubMed 
    is_active_in site of double-strand break PubMed 
    located_in site of double-strand break PubMed 

    General protein information

    Preferred Names
    DNA repair protein RAD50
    Names
    RAD50 homolog, double strand break repair protein

    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_021151.2 RefSeqGene

      Range
      5001..94373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_312

    mRNA and Protein(s)

    1. NM_005732.4 → NP_005723.2  DNA repair protein RAD50

      See identical proteins and their annotated locations for NP_005723.2

      Status: REVIEWED

      Source sequence(s)
      AC004041, AC116366, BC140005, U63139
      Consensus CDS
      CCDS34233.1
      UniProtKB/Swiss-Prot
      B9EGF5, O43254, Q6GMT7, Q6P5X3, Q92878, Q9UP86
      UniProtKB/TrEMBL
      A0A1W2PNY1, A0A1W2PQ90, A0A1W2PRJ4
      Related
      ENSP00000368100.4, ENST00000378823.8
      Conserved Domains (3) summary
      TIGR00606
      Location:2 → 1312
      rad50; rad50
      cd03240
      Location:1195 → 1297
      ABC_Rad50; ATP-binding cassette domain of Rad50
      pfam04423
      Location:659 → 709
      Rad50_zn_hook; Rad50 zinc hook motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      132556977..132646349
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      133076780..133166151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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