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    MCM8 minichromosome maintenance complex component 8 [ Homo sapiens ]

    Gene ID: 84515, updated on 19-May-2012
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    Summary

    Official Symbol
    MCM8provided by HGNC
    Official Full Name
    minichromosome maintenance complex component 8provided by HGNC
    Primary source
    HGNC:16147
    See related
    Ensembl:ENSG00000125885; HPRD:12186; MIM:608187; Vega:OTTHUMG00000031822
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    REC; C20orf154; dJ967N21.5; MGC4816; MGC12866; MGC119522; MGC119523
    Summary
    The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the MCM proteins. This protein has been shown to co-immunoprecipitate with MCM4, 6 and 7, which suggests that it may interact with other MCM proteins and play a role in DNA replication. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    20p12.3
    Sequence :
    Chromosome: 20; NC_000020.10 (5931298..5975833)
    See MCM8 in Epigenomics, MapViewer

    Chromosome 20 - NC_000020.10Genomic Context describing neighboring genes Neighboring gene KN motif and ankyrin repeat domain-containing protein 1-like Neighboring gene tRNA methyltransferase 6 homolog (S. cerevisiae) Neighboring gene cardiolipin synthase 1 Neighboring gene leucine rich repeat neuronal 4

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. Flachsbart F, et al. Mutat Res, 2010 Dec 10. PMID 20800603.
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.
    3. Host determinants of HIV-1 control in African Americans. Pelak K, et al. J Infect Dis, 2010 Apr 15. PMID 20205591.
    4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121.
    5. Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. He C, et al. Nat Genet, 2009 Jun. PMID 19448621.

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.
    4. We find that MCM8, like MCM7, colocalizes on a specific DNA segment of the c-MYC replication initiation zone (c-MYC replicator) of DNA replications together with Cdc6 and cdk2, but differs with MCM7 in spatial relation to RPA70 during S phase.
      Title: Colocalization of MCM8 and MCM7 with proteins involved in distinct aspects of DNA replication.
    5. MCM8 is a crucial component of the pre-RC and that the interaction between hMCM8 and hcdc6 is required for pre-RC assembly.
      Title: Involvement of human MCM8 in prereplication complex assembly by recruiting hcdc6 to chromatin.
    6. The MCM8 gene is located contrapodal to GCD10 at chromosome band 20p12.3-13.
      Title: A new member of the MCM protein family encoded by the human MCM8 gene, located contrapodal to GCD10 at chromosome band 20p12.3-13.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.

    Host determinants of HIV-1 control in African Americans.

    Loci at chromosomes 13, 19 and 20 influence age at natural menopause.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9UJA3 P33991 MCM4    HPRD  PubMed  
    Q9UJA3 Q14566 MCM6    HPRD  PubMed  
    Q9UJA3 P33993 MCM7    HPRD  PubMed  
    NP_001245.1 CDC6    BIND  PubMed MCM8 interacts with cdc6. 
    BioGRID:124109 BioGRID:107426 CDC6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124109 BioGRID:110341 MCM4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124109 BioGRID:110343 MCM6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124109 BioGRID:110344 MCM7    BioGRID  PubMed Affinity Capture-Western 
    NP_006181.1 ORC2    BIND  PubMed MCM8 interacts with ORC2. 
    BioGRID:124109 BioGRID:111041 ORC2    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Activation of ATR in response to replication stress, organism-specific biosystem (from REACTOME)
      Activation of ATR in response to replication stress, organism-specific biosystemGenotoxic stress caused by DNA damage or stalled replication forks can lead to genomic instability. To guard against such instability, genotoxically-stressed cells activate checkpoint factors that ha...
    • Activation of the pre-replicative complex, organism-specific biosystem (from REACTOME)
      Activation of the pre-replicative complex, organism-specific biosystemIn S. cerevisiae, two ORC subunits, Orc1 and Orc5, both bind ATP, and Orc1 in addition has ATPase activity. Both ATP binding and ATP hydrolysis appear to be essential functions in vivo. ATP binding b...
    • Assembly of the pre-replicative complex, organism-specific biosystem (from REACTOME)
      Assembly of the pre-replicative complex, organism-specific biosystemDNA replication pre-initiation in eukaryotic cells begins with the formation of the pre-replicative complex (pre-RC) during the late M phase and continues in the G1 phase of the mitotic cell cycle, a...
    • CDC6 association with the ORC:origin complex, organism-specific biosystem (from REACTOME)
      CDC6 association with the ORC:origin complex, organism-specific biosystemCdc6 is a regulator of DNA replication initiation in both yeasts and human cells, but its mechanism of action differs between the two systems. Genetic studies in budding yeast (S. cerevisiae) and fis...
    • CDT1 association with the CDC6:ORC:origin complex, organism-specific biosystem (from REACTOME)
      CDT1 association with the CDC6:ORC:origin complex, organism-specific biosystemInitiation protein Cdt1 was first identified in X. laevis, where it has been shown to be the second component of licensing factor (RLF-B) and in S. pombe. Cdt1 homologs have been identified in D. mel...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA Replication Pre-Initiation, organism-specific biosystem (from REACTOME)
      DNA Replication Pre-Initiation, organism-specific biosystemAlthough, DNA replication occurs in the S phase of the cell cycle, the formation of the DNA replication pre-initiation complex begins during G1 phase.
    • DNA strand elongation, organism-specific biosystem (from REACTOME)
      DNA strand elongation, organism-specific biosystemAccurate and efficient genome duplication requires coordinated processes to replicate two template strands at eucaryotic replication forks. Knowledge of the fundamental reactions involved in replicat...
    • E2F mediated regulation of DNA replication, organism-specific biosystem (from REACTOME)
      E2F mediated regulation of DNA replication, organism-specific biosystemProgression through G1 and G1 to S-phase transition that initiates DNA synthesis involve many complexes that are regulated by RB1:E2F pathway. RB1:E2F pathway plays a key role in gene expression regu...
    • E2F-enabled inhibition of pre-replication complex formation, organism-specific biosystem (from REACTOME)
      E2F-enabled inhibition of pre-replication complex formation, organism-specific biosystemUnder specific conditions, Cyclin B, a mitotic cyclin, can inhibit the functions of pre-replicative complex. E2F1 activates Cdc25A protein which regulates Cyclin B in a positive manner. Cyclin B/Cdk...
    • G1/S Transition, organism-specific biosystem (from REACTOME)
      G1/S Transition, organism-specific biosystemCyclin E - Cdk2 complexes control the transition from G1 into S-phase. In this case, the binding of p21Cip1/Waf1 or p27kip1 is inhibitory. Important substrates for Cyclin E - Cdk2 complexes include p...
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • M/G1 Transition, organism-specific biosystem (from REACTOME)
      M/G1 Transition, organism-specific biosystemFinally, progression out of mitosis and division of the cell into two daughters (cytokinesis) requires the inactivation of Cyclin B - Cdc2 by ubiquitin-dependent proteolysis of Cyclin A and B, which ...
    • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
      Mitotic G1-G1/S phases, organism-specific biosystem
      Mitotic G1-G1/S phases
    • Mitotic M-M/G1 phases, organism-specific biosystem (from REACTOME)
      Mitotic M-M/G1 phases, organism-specific biosystem
      Mitotic M-M/G1 phases
    • Orc1 removal from chromatin, organism-specific biosystem (from REACTOME)
      Orc1 removal from chromatin, organism-specific biosystem
      Orc1 removal from chromatin
    • Regulation of DNA replication, organism-specific biosystem (from REACTOME)
      Regulation of DNA replication, organism-specific biosystemDNA replication is regulated at various levels via ORC proteins. This pathway includes annotation of individual events that lead to the regulation of replication.
    • Removal of licensing factors from origins, organism-specific biosystem (from REACTOME)
      Removal of licensing factors from origins, organism-specific biosystemLicensing factors are removed from the origin by various means like biochemical modification (phosphorylation) or by physical association with other proteins. This pathway includes the annotations of...
    • S Phase, organism-specific biosystem (from REACTOME)
      S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continu...
    • Switching of origins to a post-replicative state, organism-specific biosystem (from REACTOME)
      Switching of origins to a post-replicative state, organism-specific biosystem
      Switching of origins to a post-replicative state
    • Synthesis of DNA, organism-specific biosystem (from REACTOME)
      Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
    • Unwinding of DNA, organism-specific biosystem (from REACTOME)
      Unwinding of DNA, organism-specific biosystemDNA Replication is regulated accurately and precisely by various protein complexes. Many members of the MCM protein family are assembled into the pre-Replication Complexes (pre-RC) at the end of M ph...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleoside-triphosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    DNA replication TAS
    Traceable Author Statement
    more info
    		  
    DNA strand elongation involved in DNA replication TAS
    Traceable Author Statement
    more info
    		  
    G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    M/G1 transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    S phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    cell cycle checkpoint TAS
    Traceable Author Statement
    more info
    		  
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    DNA replication licensing factor MCM8
    Names
    DNA replication licensing factor MCM8
    REC homolog
    minichromosome maintenance 8
    MCM8 minichromosome maintenance deficient 8
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_032485.4 → NP_115874.3  DNA replication licensing factor MCM8 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI200387, AJ439063, BM664368
      Consensus CDS
      CCDS13094.1
      UniProtKB/Swiss-Prot
      Q9UJA3
      Related
      ENSP00000368174, OTTHUMP00000030217, ENST00000378896, OTTHUMT00000077900
      Conserved Domains (2) summary
      cd00009
      Location:435 – 593
      Blast Score: 106
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00350
      Location:207 – 749
      Blast Score: 1118
      MCM; minichromosome maintenance proteins

    2. NM_182802.1 → NP_877954.1  DNA replication licensing factor MCM8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an extra segment in the 5' UTR, and lacks an internal segment within the coding region, as compared to variant 1. The resulting shorter isoform (2) lacks an internal region, as compared to isoform 1.
      Source sequence(s)
      AI200387, AY158211, BM664368
      Consensus CDS
      CCDS13095.1
      UniProtKB/Swiss-Prot
      Q9UJA3
      Related
      ENSP00000265187, OTTHUMP00000030218, ENST00000265187, OTTHUMT00000077901
      Conserved Domains (2) summary
      cd00009
      Location:419 – 577
      Blast Score: 106
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00350
      Location:207 – 733
      Blast Score: 1075
      MCM; minichromosome maintenance proteins

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000020.10 Reference GRCh37.p5 Primary Assembly

      Range
      5931298..5975833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000152.1 Alternate HuRef

      Range
      5887832..5932235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL035461.11 CAB55276.2
      CAI23480.1
    genomic AL035461.11 CAB55276.2
      CAI23480.1
    genomic CH471133.3 EAX10403.1
      EAX10404.1
      EAX10405.1
    genomic CS402789.1 CAL40366.1
    genomic CS402791.1 CAL40367.1
    genomic CS402793.1 CAL40368.1
    genomic CS402795.1 CAL40369.1
    genomic CS402799.1 CAL40371.1
    genomic CS402801.1 CAL40372.1
    mRNA AI200387.1 None
    mRNA AJ439063.1 CAD27750.1
    mRNA AK027644.1 BAB55260.1
    mRNA AK160378.1 BAD18721.1
    mRNA AK297806.1 BAG60144.1
    mRNA AK314654.1 BAG37214.1
    mRNA AY158211.1 AAO21222.1
    mRNA BC005170.1 None
    mRNA BC008830.2 AAH08830.2
    mRNA BC080656.1 AAH80656.1
    mRNA BC101054.1 AAI01055.1
    mRNA BC101055.1 AAI01056.1
    mRNA BC101056.1 AAI01057.1
    mRNA BC101057.1 AAI01058.1
    mRNA BM664368.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q495R6 GenPept UniProtKB/TrEMBL:Q495R6
    Q6ZMK4 GenPept UniProtKB/TrEMBL:Q6ZMK4
    Q9UJA3.2 GenPept UniProtKB/Swiss-Prot:Q9UJA3
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
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