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FLASH GENE
Symbol MCM9 contributors: npt/mct/pgu - updated : 12-04-2021
HGNC name minichromosome maintenance complex component 9
HGNC id 21484
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2507 - 391 - 2011 21987787
  • MCM9S, that contains a partial MCM domain, with Walker A-type ATPase motif, but not a Walker B domain
  • 12 - 4822 - 1143 - 2011 21987787
  • MCM9L predicted to contain both the Walker A and B motifs required for helicase activity
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Nervousbrain    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal DNA binding domain
  • an MCM8-like ATP binding and hydrolysis motif implicated in helicase activity
  • AAA+ core domain
  • a unique C-terminal domain which has only weak homology to MCM2-7 and MCM8 but is conserved within MCM9 homologs
  • HOMOLOGY
    interspecies homolog to murine Mcmdc1
    intraspecies paralog to MCM8
    Homologene
    FAMILY
  • MCM family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • may be essential for the initiation of DNA replication
  • only present in the genome of higher eukaryotes
  • with MCM8, are my be involved in DNA replication although their exact roles are unclear
  • during gametogenesis, MCM9 is critical for homologous recombination (HR) in the repair of DNA double-stranded breaks (DSBs) and stabilization of broken or stalled DNA replication forks
  • evolved a specialized but nonessential role in DNA replication or replication-linked quality-control mechanisms that are especially important for germ-line stem cells, and also for tumor suppression and genome maintenance in the soma
  • is not required for DNA replication
  • during DNA interstrand crosslinks repair, MCM8 and MCM9 form nuclear foci that partly colocalize with RAD51
  • essential functions of MCM8 and MCM9 in homologous recombination -mediated DSB repair during gametogenesis, replication fork maintenance, and DNA repair
  • implicated in DNA prereplication complex (pre-RC) formation
  • in the germline, the MCM8-MCM9 complex is most likely required for the resolution of DSBs that occur during HR between homologous chromosomes in pachytene of meiosis I
  • role for MCM9 and its helicase activity in mammalian DNA mismatch repair (MMR)
  • stalled replication forks can be restarted in S phase via homologous recombination using MCM8-9 as an alternative replicative helicase
  • CELLULAR PROCESS nucleotide, replication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism nucleic
    signaling
    a component
  • MCM8 and MCM9 form a complex and they coregulate their stability
  • MCM8-MCM9 complex promotes RAD51 recruitment at DNA damage sites to facilitate homologous recombination
  • INTERACTION
    DNA binding
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • MCM8 is required for the stability of MCM9 protein in mammalian cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ODG4
    Susceptibility to nondisjunction of chromosome 21 during meiosis I within oocyte and to birth of child with Down syndrome
    Variant & Polymorphism other
  • maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mcm9 deficiency mouse have defect in spermatogonial self-renewal during adulthood, and distinct sex-specific cancers
  • MCM9(-/-) testes produce spermatozoa, albeit in much reduced quantity
  • Mcm9-deficient mice have gonadal failure, and fibroblasts from these mice show hypersensitivity to agents that induce DSBs and DNA crosslinks (i.e., ionizing radiation and MMC), resulting in a higher number of broken chromosomes, a hallmark of genomic instability