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FLASH GENE
Symbol EXO1 contributors: mct - updated : 19-01-2017
HGNC name exonuclease 1
HGNC id 3511
Location 1q43      Physical location : 242.011.492 - 242.053.239
Synonym name Rad2 nuclease family member homolog of S.cervisiae exonuclease 1
Synonym symbol(s) HEX1
EC.number 3.1.-.-
DNA
TYPE functioning gene
STRUCTURE 41.97 kb     15 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D1S180 - D1S204 - EXO1 - D1S379 - D1S2842 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 splicing 3210 - 846 - 2008 18971343
16 splicing 3449 - 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
  • 14 splicing 3208 - 803 - 2008 18971343
    differs from EXO1b by lacking the last 44 COOH-terminal amino acids
    15 - 3341 - 845 - 2008 18971343
    EXPRESSION
    Type ubiquitous
       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     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies
    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
  • multifunctional exonuclease involved in DNA damage repair, replication, immunoglobulin diversity, meiosis, and telomere maintenance
  • encodes both structural and catalytic functions that play distinct roles in essential biological processes
  • catalytic function of EXO1 is required for its participation in mismatch repair
  • coupling of EXO1 activation with its eventual degradation is a timing mechanism that limits the extent of DNA end resection for accurate DNA repair
  • is an evolutionarily conserved eukaryotic nuclease that plays a multifaceted role in maintaining genome stability
  • plays a key role in the resolution of, and replication through, telomeric G-quadruplexes
  • ability to resect DNA in the 5'-3' direction shown to be implicated in several genomic DNA metabolic processes such as replication stress response, double strand break repair, mismatch repair, nucleotide excision repair and telomere maintenance
  • CELLULAR PROCESS nucleotide, repair, mismatch repair
    nucleotide, repair, recombination
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • signaling pathway that controls the activity of exonuclease EXO1 to prevent aberrant fork resection during replication stress
  • 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
  • duplex DNA contact by EXO1 is a general mechanism that controls its activation and this mechanism is particularly important for digestion of duplex DNA whose nascent ssDNA is bound by RPA
  • critical, noncatalytic role for EXO1, through noncanonical interaction with polo kinase
  • cell & other
    REGULATION
    Other sumoylation regulates EXO1 stability and processing of DNA damage
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    in hereditary non polyposis colorectal cancer (HNPCC), rare cases
    tumoral     --over  
    associated with carcinogenesis and poor prognosis in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • could be a promising prognostic marker, with a potential therapeutic value in hepatocellular carcinoma (HCC)
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    potential therapeutic value in hepatocellular carcinoma (HCC)
    ANIMAL & CELL MODELS