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FLASH GENE
Symbol MCM8 contributors: mct/npt/pgu - updated : 10-01-2015
HGNC name minichromosome maintenance complex component 8
HGNC id 16147
Corresponding disease
POF7 premature ovarian failure, 7
Location 20p12.3      Physical location : 5.931.297 - 5.975.829
Synonym name
  • MCM8 minichromosome maintenance deficient 8 (S. cerevisiae)
  • novel MCM2/3/5 family member
  • chromosome 20 open reading frame 154
  • DNA replication licensing factor MCM8
  • REC homolog
  • Synonym symbol(s) C20orf154, MGC4816, MGC12866, dJ967N21.5, MGC119522, MGC119523, REC
    EC.number 3.6.4.12
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    text in a head-to-head orientation with the CRLS1 gene
    STRUCTURE 44.55 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    cytosine-phosphate-guanine/HTF
    Binding site   enhancer   transcription factor
    text structure the 5-prime untranslated region is shared with CRLS1 and containing a CpG island and a putative CCAAT element that is less than 30 bp from the CRLS1 start point, but lacks TATA boxes for either gene. There are putative binding sites for c, ETS1, E2F1 and PURA
    MAPPING cloned Y linked N status provisional
    Physical map
    RPL7AL2 20p13 ribosomal protein L7a like 2 RPS4L2 20p13 ribosomal protein S4-like 2 PRNP 20p12.3 prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) PRND 20pter-p12 prion protein 2 (dublet) LOC149830 20p13 M8 protein RASSF2 20pter-p12.1 Ras association (RalGDS/AF-6) domain family 2 SLC23A2 5q31.2-q31.3 solute carrier family 23 (nucleobase transporters), member 2 C20orf30 20p13 chromosome 20 open reading frame 30 PCNA 20p12.3 proliferating cell nuclear antigen CDS2 20p13 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 LOC388784 20 similar to dJ680N4.2 (ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)) GPR73L1 20p13 G protein-coupled receptor 73-like 1 LOC388785 20 hypothetical gene supported by AK090863 MGC35023 20p13 hypothetical protein MGC35023 LOC388786 20 LOC388786 LOC388787 20 LOC388787 RPS18P1 20p13 ribosomal protein S18 pseudogene 1 KIAA1434 20p13 hypothetical protein KIAA1434 EIF4EL2 20p13 eukaryotic translation initiation factor 4E-like 2 FLJ25067 20p13 hypothetical protein FLJ25067 CHGB 20p12.3 chromogranin B (secretogranin 1) LOC391230 20 similar to ankyrin repeat domain protein 15; kidney ankyrin repeat-containing protein CGI-09 20p13 CGI-09 protein MCM8 20p12.3 MCM8 minichromosome maintenance deficient 8 (S. cerevisiae) C20orf155 20p13-p12.3 chromosome 20 open reading frame 155 C20orf75 20p13 chromosome 20 open reading frame 75 C20orf42 20p12.3 chromosome 20 open reading frame 42 LOC219414 20p12.3 similar to TAR DNA binding protein LOC149844 20p12.3 NS1-associated protein 1 pseudogene BMP2 20p12 bone morphogenetic protein 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 splicing 3704 - 840 - 2008 18072282
    19 splicing 3710 - 824 choriocarcinoma 2008 18072282
  • containing an extra segment in the 5' UTR compared to variant 1
  • lacking an internal segment within the coding region compared to variant 1
  • 19 - 3769 - 840 - 2008 18072282
    18 - 3574 - 793 - 2008 18072282
    19 - 3835 - 880 - 2008 18072282
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  moderately
     liver    
    Skin/Tegumentskin   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cell lineage
    cell lines hepatocellular carcinoma
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a MCM domain
  • an ATP binding domain
  • a zinc finger motif
  • a Walker A-type NTP-binding site
  • HOMOLOGY
    interspecies homolog to rattus Rn 77418
    homolog to Drosophila rec
    ortholog to murine Mcm8
    intraspecies paralog to MCM9
    Homologene
    FAMILY
  • MCM family
  • CATEGORY regulatory , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text colocalized with replication foci and RPA34 on replicating chromatin
    basic FUNCTION
  • playing a role in DNA replication
  • involved in the elongation step of DNA replication as a helicase facilitating the recruitment of RPA34 and stimulating the processivity of DNA polymerases at replication foci
  • playing a role in S phase but the function is unknown
  • required for efficient progression of replication forks, suggesting a role in DNA unwinding (DNA helicase)
  • DNA-dependent ATPase activity
  • having an essential role for DNA replication
  • functions with other known replication proteins in processes which accompany DNA replication, especially initiation, and which are specifically adapted to suit higher eukaryotes
  • with MCM9, are my be involved in DNA replication although their exact roles are unclear
  • suggested to enable recruitment of CDC6 to replication origins
  • during DNA interstrand crosslinks repair, MCM8 and MCM9 form nuclear foci that partly colocalize with RAD51
  • implicated in DNA replication elongation
  • MCM8 is required for the stability of MCM9 protein in mammalian cells
  • participates in homologous recombination and dsDNA break repair
  • 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
  • CELLULAR PROCESS cell cycle
    nucleotide, replication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    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 chromatin upon initiation of DNA synthesis
    RNA
    small molecule metal binding, nucleotide,
  • ATP
  • zinc Zn2+
  • protein
  • MCM4
  • MCM6
  • MCM7
  • cell & other
    REGULATION
    activated by MYCN
    ASSOCIATED DISORDERS
    corresponding disease(s) POF7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • MCM8(-/-) mice are sterile because spermatocytes are blocked in meiotic prophase I, and females have only arrested primary follicles and frequently develop ovarian tumors