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FLASH GENE
Symbol MCM4 contributors: mct - updated : 31-03-2012
HGNC name minichromosome maintenance complex component 4
HGNC id 6947
Corresponding disease
NKGCD natural killer cell and glucocorticoid deficiency with DNA repair defect
Location 8q11.21      Physical location : 48.873.493 - 48.890.068
Synonym name
  • MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)
  • DNA replication licensing factor MCM4
  • homolog of S. pombe cell devision cycle 21
  • CDC21 homolog
  • Synonym symbol(s) CDC21, CDC54, hCdc21, P1-CDC21, MGC33310
    DNA
    TYPE functioning gene
    STRUCTURE 17.96 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 4928 - 863 - 2009 19780640
    17 - 3417 - 863 - 2009 19780640
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Lymphoid/Immunethymus   highly
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal phosphorylation site (phosphorylation play functionally redundant but essential roles in initiation of DNA replication, and has several distinct and site-specific roles in the function of MCM during the cell cycle)
  • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae replication Mcm4 (minichromosome maintenance deficient 4)
    intraspecies homolog to cell division cycle 21(CDC21)
    Homologene
    FAMILY
  • MCM family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in an early step of DNA replication, participating in the cell cycle control of genome duplication
  • play a central role in the regulation of DNA replication
  • target of the DNA replication block checkpoint system, negatively regulated by CDK2 phosphorylation
  • subunit of a putative replicative helicase
  • during S phase MCM4 functions as part of the replicative helicase but within the pre-replication, MCM4 is inactive
  • may play an essential role in the proliferation of some non-small cell lung cancer cells
  • has potentially conserved functions in DNA replication and replication checkpoint control but also shows unexpected tissue-specific requirements
  • CELLULAR PROCESS cell life
    nucleotide, replication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MCM8
  • interacting with ARHGEF5 and TIPIN, both of which are involved in regulation of DNA replication fork progression (Numata 2010)
  • cell & other
    REGULATION
    inhibited by by CDK2 phosphorylation
    Other phosphorylation by CDC7 kinase facilitates its interaction with CDC45L on the chromatin
    ASSOCIATED DISORDERS
    corresponding disease(s) NKGCD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    partial MCM4 deficiency results in a genetic syndrome of growth retardation with adrenal insufficiency and selective NK deficiency
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    may have potential as a therapeutic target in certain population with non-small cell lung cancer
    ANIMAL & CELL MODELS