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FLASH GENE
Symbol EXO1 contributors: mct - updated : 19-01-2017
HGNC name exonuclease 1
HGNC id 3511
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 splicing 3140 - 846 - 1998 9685493
16 splicing 3230 - 846 - 2008 18971343
  • COOH-terminal part is crucial for subcellular localization
  • the 44 COOH-terminal amino acids have no influence on the subcellular localization of EXO1
  • 15 splicing 3138 - 803 - 2008 18971343
    differs from EXO1b by lacking the last 44 COOH-terminal amino acids
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestivesalivary gland   highly
    Hearing/Equilibriumearinner  highly
    Lymphoid/Immunethymus   highly
    Reproductivemale systemtestis   
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text highly, in liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a domain required for post-replication repair distinct from those required for interaction with DNA mismatch repair proteins
  • C-terminal 44 AAs, which are missing from isoform 1a because of alternate splicing, are not essential for the interaction with BLM
  • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae EXO1 (yeast RAD2 epistasis group)
    Homologene
    FAMILY
  • XPG/RAD2 endonuclease family
  • EXO1 subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in recombination or mismatch repair by interacting with MSH2
  • playing a role in events at the replication sites as well as a functional role in the DNA mismatch repair and/or recombination processes
  • nuclease implicated in a multitude of eukaryotic DNA metabolic pathways that include DNA repair, recombination, replication, and telomere integrity
  • plays both structural and catalytic roles during DNA mismatch repair
  • playing a role with BLM in the initiation of recombinational DNA repair
  • has a role in the timely induction of apoptosis, is subsequently cleaved and degraded during apoptosis, potentially inhibiting DNA damage repair
  • new functions of RBBP8 and EXO1 in DNA end resection, preventing genomic instability
  • PIF1 and EXO1 resect telomeric DNA <5 kb from the chromosome end, stimulating weak checkpoint activation; resection is extended >5 kb by EXO1 and full checkpoint activation occurs
  • ERCC5 and EXO1 may have an analogous disorder-to-order transition promoted by ssDNA or a partner
  • FEN1, EXO1, ERCC5, and GEN1 are junction specific enzymes that require three separate binding sites for DNA and that incise one base pair into the duplex region of the substrate
  • involved in the cellular response to UV irradiation in human cells
  • key role in the UV-induced DNA damage response linking nucleotide excision repairto checkpoint activation in human cells
  • potential cross-talk between DNA2- and EXO1-dependent resection pathways
  • CELLULAR PROCESS nucleotide, repair, mismatch repair
    nucleotide, repair, recombination
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with MLH1 and hMSH2 (forming complexes, which are imported to the nucleus together)
  • BLM-DNA2-RPA-NBN and EXO1-BLM-RPA-NBN constitute two DNA end resection machineries for human DNA break repair
  • EXO1, ERCC5, and GEN1, whose activities span multiple DNA repair pathways, are members of the 5 prime nuclease superfamily with FEN1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MSH2 binding
  • colocalizing with proliferating cell nuclear antigen (PCNA) at DNA replication sites
  • specific interaction between BLM and EXO1
  • WRN participates in one of the two alternative long-range resection pathways mediated by DNA2 or EXO1
  • SETMAR enhances EXO1-mediated exonuclease activity on the lagging-strand DNA by facilitating EXO1 loading onto a single-strand gap at the stalled replication fork
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    in hereditary non polyposis colorectal canceer (HNPCC), rare cases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS