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

    Gene ID: 10111, updated on 13-Apr-2024

    Summary

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    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
    mouse all
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    Genomic context

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    Location:
    5q31.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132556977..132646349)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (133076780..133166151)
    105.20220307 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Rad50 promotes ovarian cancer progression through NF-κB activation. Li Y, et al. J Cell Mol Med, 2021 Dec. PMID 34734468, Free PMC Article
    2. Overexpression of RAD50 is the Marker of Poor Prognosis and Drug Resistance in Breast Cancer Patients. Karamat U, et al. Curr Cancer Drug Targets, 2021. PMID 33038913
    3. Human RAD50 deficiency: Confirmation of a distinctive phenotype. Ragamin A, et al. Am J Med Genet A, 2020 Jun. PMID 32212377, Free PMC Article
    4. Prognostic implication and functional annotations of Rad50 expression in patients with prostate cancer. Xu WH, et al. J Cell Biochem, 2020 Jun. PMID 31886567
    5. Targeting RAD50 increases sensitivity to radiotherapy in colorectal cancer cells. Chen C, et al. Neoplasma, 2018. PMID 29322791

    See all (384) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.
      Title: Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.
    2. Structural mechanism of endonucleolytic processing of blocked DNA ends and hairpins by Mre11-Rad50.
      Title: Structural mechanism of endonucleolytic processing of blocked DNA ends and hairpins by Mre11-Rad50.
    3. Rad50 promotes ovarian cancer progression through NF-kappaB activation.
      Title: Rad50 promotes ovarian cancer progression through NF-κB activation.
    4. MRN Complex and Cancer Risk: Old Bottles, New Wine.
      Title: MRN Complex and Cancer Risk: Old Bottles, New Wine.
    5. Overexpression of RAD50 is the Marker of Poor Prognosis and Drug Resistance in Breast Cancer Patients.
      Title: Overexpression of RAD50 is the Marker of Poor Prognosis and Drug Resistance in Breast Cancer Patients.
    6. A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans.
      Title: A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans.
    7. Enhanced DNA damage response through RAD50 in triple negative breast cancer resistant and cancer stem-like cells contributes to chemoresistance.
      Title: Enhanced DNA damage response through RAD50 in triple negative breast cancer resistant and cancer stem-like cells contributes to chemoresistance.
    8. Prognostic implication and functional annotations of Rad50 expression in patients with prostate cancer.
      Title: Prognostic implication and functional annotations of Rad50 expression in patients with prostate cancer.
    9. A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.
      Title: A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.
    10. Genetic interactions between INPP4B and RAD50 is prognostic of breast cancer survival.
      Title: Genetic interactions between INPP4B and RAD50 is prognostic of breast cancer survival.
    Submit: New GeneRIF Correction See all GeneRIFs (134)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CARINH

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to 3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to DNA helicase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables G-quadruplex DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to single-stranded DNA endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables single-stranded telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA double-strand break processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA double-strand break processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA duplex unwinding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA strand resection involved in replication fork processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA strand resection involved in replication fork processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in R-loop processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chromosome organization involved in meiotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in homologous recombination NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic G2/M transition checkpoint NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of telomere capping IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in reciprocal meiotic recombination TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of mitotic recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in telomere maintenance TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in telomere maintenance via recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere maintenance via telomerase IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in telomeric 3' overhang formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BRCA1-C complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of Mre11 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT part_of Mre11 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Mre11 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Mre11 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of Mre11 complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in chromosomal region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in chromosome, telomeric region HDA PubMed 
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in condensed nuclear chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_2023_10

    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)

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92878.1 GenPept UniProtKB/Swiss-Prot:Q92878

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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