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

    Gene ID: 5810, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:9806
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See RAD1 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (34905260..34915504, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (35152293..35165170, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (34905365..34915609, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900959 Neighboring gene tetratricopeptide repeat domain 23 like Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:34866693-34867892 Neighboring gene ribosomal protein L21 pseudogene 54 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr5:34915193-34915798 and GRCh37_chr5:34915799-34916404 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:34922818-34924017 Neighboring gene uncharacterized LOC124900961 Neighboring gene biogenesis of ribosomes BRX1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34930148-34930793 Neighboring gene DnaJ heat shock protein family (Hsp40) member C21 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34955801-34955974

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables damaged DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables double-stranded DNA 3'-5' DNA exonuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of checkpoint clamp complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of checkpoint clamp complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in 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
    XP_054208998.1

    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.

    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, O75572, O95304, Q1W161, Q5KSM0, Q5KSM1, Q9UEP1
      Related
      ENSP00000371469.2, ENST00000382038.7
      Conserved Domains (1) summary
      pfam02144
      Location:17257
      Rad1; Repair protein Rad1/Rec1/Rad17

    RNA

    1. NR_026591.2 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, BC035771

    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
      34905260..34915504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      35152293..35165170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353023.1XP_054208998.1  cell cycle checkpoint protein RAD1 isoform X1

      UniProtKB/Swiss-Prot
      O60671, O75572, O95304, Q1W161, Q5KSM0, Q5KSM1, Q9UEP1

    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.