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FLASH GENE
Symbol EME1 contributors: mct/npt/pgu - updated : 23-01-2019
HGNC name essential meiotic endonuclease 1 homolog 1 (S. pombe)
HGNC id 24965
Location 17q21.33      Physical location : 48.450.580 - 48.458.820
Synonym name
  • homolog of yeast EME1 endonuclease
  • crossover junction endonuclease EME1
  • Synonym symbol(s) MMS4L, FLJ31364, MMS4, SLX2A
    EC.number 3.1.22.-
    DNA
    TYPE functioning gene
    STRUCTURE 8.24 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2371 - 583 - 2003 14609959
    9 - 2332 63.2 570 - 2003 14609959
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Reproductivefemale systemuteruscervix  
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C-terminal ERCC4 nuclease domain
  • HOMOLOGY
    interspecies homolog to murine 6820428D13
    Homologene
    FAMILY
  • EME1/MMS4, XPF family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • having ATP binding activity, and involved in proton transport
  • playing a key role in DNA repair and the maintenance of genome integrity
  • catalyzes with MUS81 coordinate bilateral cleavage of model Holliday-junction structures
  • conserved heterodimeric endonuclease MUS81-EME1 plays an important role in the maintenance of genomic integrity in eukaryotic cells
  • controlled MUS81-EME1 activity provides a safeguard mechanism to resolve DNA intermediates that may remain after replication and require processing before mitosis
  • MUS81-EME1 endonuclease maintains metazoan genomic integrity by cleaving branched DNA structures that arise during the resolution of recombination intermediates
  • MUS81 WH domain mutation greatly reduce binding of the isolated domain to DNA and impact on incision activity of MUS81-EME1/EME2 complexes)
  • MUS81-EME1 and MUS81-EME2 exhibit similar and yet distinct DNA structure selectivity, indicating that the two MUS81 complexes may promote different nucleolytic cleavage reactions
  • the G2/M functions of MUS81, such as the cleavage of recombination intermediates and fragile site expression, are promoted by MUS81-EME1
  • genome stability depends mainly on the ability of cells to counteract targeting of branched intermediates by the MUS81/EME1 complex in S-phase, rather than on a correct MUS81 function in mitosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with MUS81 to play a role in the processing of stalled replication fork intermediates, and is critical for genomic stability and the response to DNA crosslink damage and replication blockade
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MUS81
  • interacts with UHRF1, an E3 ubiquitin ligase that participates in chromatin modification, replication-linked epigenetic maintenance and the DNA damage response
  • MUS81–EME1 is recruited to replication centers following DNA damage, through interaction with UHRF1
  • interacting with CHEK1 (CHEK1-mediated protection of replication forks from MUS81/EME1 even under otherwise unchallenged conditions is therefore vital to prevent uncontrolled fork collapse and ensure proper S-phase progression in human cells)
  • both MUS81-EME1 and MUS81-EME2 increased the activity of FEN1, but FEN1 did not stimulate the activity of MUS81-EME1/EME2
  • SLX1A, like MUS81-EME1, is required for repair of DNA interstrand crosslinks, but this role appears to be independent of Holliday junctions (HJs) cleavage
  • coordinated actions of SLX1A-BTBD12 and MUS81-EME1 for Holliday junction resolution
  • mitotic DNA synthesis, termed MiDAS, requires the MUS81-EME1 endonuclease and a non-catalytic subunit of the Pol-delta complex, POLD3
  • RECQL5 removes RAD51 filaments stabilizing stalled replication forks at common fragile sites (CFSs) and hence facilitates CFS cleavage by MUS81-EME1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS