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    RAD1 RAD1 checkpoint DNA exonuclease [ Homo sapiens (human) ]

    Gene ID: 5810, updated on 21-Apr-2019

    Summary

    Official Symbol
    RAD1provided by HGNC
    Official Full Name
    RAD1 checkpoint DNA exonucleaseprovided by HGNC
    Primary source
    HGNC:HGNC:9806
    See related
    Ensembl:ENSG00000113456 MIM:603153
    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
    REC1; HRAD1
    Summary
    This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]
    Expression
    Ubiquitous expression in testis (RPKM 6.2), adrenal (RPKM 5.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See RAD1 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (34905260..34915675, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (34905365..34915780, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929704 Neighboring gene tetratricopeptide repeat domain 23 like Neighboring gene ribosomal protein L21 pseudogene 54 Neighboring gene biogenesis of ribosomes BRX1 Neighboring gene DnaJ heat shock protein family (Hsp40) member C21

    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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • ATR Signaling, organism-specific biosystem (from WikiPathways)
      ATR Signaling, organism-specific biosystemThis pathway is modeled after Figure 1 in the article " ATR signalling: more than meeting at the fork" (See Bibliography). This pathway details the ATR signaling which commences when there is a gap i...
    • Activation of ATR in response to replication stress, organism-specific biosystem (from REACTOME)
      Activation of ATR in response to replication stress, organism-specific biosystemGenotoxic stress caused by DNA damage or stalled replication forks can lead to genomic instability. To guard against such instability, genotoxically-stressed cells activate checkpoint factors that ha...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • DNA Damage Response, organism-specific biosystem (from WikiPathways)
      DNA Damage Response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
    • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
      Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
      Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
    • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
      Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
      miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    damaged DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    exodeoxyribonuclease III activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA damage checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    DNA replication TAS
    Traceable Author Statement
    more info
     
    cellular response to DNA damage stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    meiotic recombination checkpoint IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nucleic acid phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    cell cycle checkpoint protein RAD1
    Names
    DNA repair exonuclease REC1
    DNA repair exonuclease rad1 homolog
    RAD1 checkpoint clamp component
    RAD1 homolog
    cell cycle checkpoint protein Hrad1
    checkpoint control protein HRAD1
    exonuclease homolog RAD1
    rad1-like DNA damage checkpoint protein
    NP_002844.1

    NCBI Reference Sequences (RefSeq)

    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_002853.4NP_002844.1  cell cycle checkpoint protein RAD1

      See identical proteins and their annotated locations for NP_002844.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AC026801, AF011905
      Consensus CDS
      CCDS3905.1
      UniProtKB/Swiss-Prot
      O60671
      UniProtKB/TrEMBL
      A0A024R045
      Related
      ENSP00000371469.2, ENST00000382038.7
      Conserved Domains (1) summary
      pfam02144
      Location:16257
      Rad1; Repair protein Rad1/Rec1/Rad17

    RNA

    1. NR_026591.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC026801, AF090170, AK002112, BC035771

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      34905260..34915675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001033673.1: Suppressed sequence

      Description
      NM_001033673.1: This RefSeq was permanently suppressed becausse the transcript is a nonsense-mediated decay (NMD) candidate.
    2. NM_133282.1: Suppressed sequence

      Description
      NM_133282.1: This RefSeq was permanently suppressed because because it represents the wrong CDS beginning at an internal start codon. If the ORF initiates at the normal upstream start codon, then the transcript is a nonsense-medi
    3. NM_133377.2: Suppressed sequence

      Description
      NM_133377.2: This RefSeq was permanently suppressed because it contains an upstream ORF, translation from which would render it a nonsense-mediated mRNA decay (NMD) candidate.
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