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    MCM8 minichromosome maintenance 8 homologous recombination repair factor [ Homo sapiens (human) ]

    Gene ID: 84515, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MCM8provided by HGNC
    Official Full Name
    minichromosome maintenance 8 homologous recombination repair factorprovided by HGNC
    Primary source
    HGNC:HGNC:16147
    See related
    Ensembl:ENSG00000125885 MIM:608187; AllianceGenome:HGNC:16147
    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
    POF10; C20orf154; dJ967N21.5
    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 mini-chromosome maintenance proteins is a key component of the pre-replication complex 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 mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
    Expression
    Broad expression in testis (RPKM 3.9), lymph node (RPKM 1.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MCM8 in Genome Data Viewer
    Location:
    20p12.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (5950652..5998977)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (5990987..6039282)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (5931298..5979623)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12660 Neighboring gene KN motif and ankyrin repeat domains 1 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:5920579-5920767 Neighboring gene tRNA methyltransferase 6 non-catalytic subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17533 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:5950104-5950670 Neighboring gene MCM8 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:5986511-5987012 Neighboring gene RNA, 7SL, cytoplasmic 498, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14083 Neighboring gene cardiolipin synthase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities. Schuh-Huerta SM, et al. Hum Genet, 2012 Nov. PMID 22696150, Free PMC Article
    2. Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature. Wang F, et al. Mol Genet Genomic Med, 2020 Sep. PMID 32652893, Free PMC Article
    3. Crystal structure of the winged-helix domain of MCM8. Zeng H, et al. Biochem Biophys Res Commun, 2020 Jun 11. PMID 32295713
    4. Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome. Golubicki M, et al. JCI Insight, 2020 Sep 17. PMID 32841224, Free PMC Article
    5. Identification of mini-chromosome maintenance 8 as a potential prognostic marker and its effects on proliferation and apoptosis in gastric cancer. Huang B, et al. J Cell Mol Med, 2020 Dec. PMID 33155430, Free PMC Article

    See all (85) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MCM8 promotes lung cancer progression through upregulating DNAJC10.
      Title: MCM8 promotes lung cancer progression through upregulating DNAJC10.
    2. Understanding the novel MCM8 gene mutation: primary ovarian insufficiency and uterine hypoplasia in siblings.
      Title: Understanding the novel MCM8 gene mutation: primary ovarian insufficiency and uterine hypoplasia in siblings.
    3. MCM8 promotes gastric cancer progression through RPS15A and predicts poor prognosis.
      Title: MCM8 promotes gastric cancer progression through RPS15A and predicts poor prognosis.
    4. MCM8 is regulated by EGFR signaling and promotes the growth of glioma stem cells through its interaction with DNA-replication-initiating factors.
      Title: MCM8 is regulated by EGFR signaling and promotes the growth of glioma stem cells through its interaction with DNA-replication-initiating factors.
    5. A novel cancer-germline gene DAZL promotes progression and cisplatin resistance of non-small cell lung cancer by upregulating JAK2 and MCM8.
      Title: A novel cancer-germline gene DAZL promotes progression and cisplatin resistance of non-small cell lung cancer by upregulating JAK2 and MCM8.
    6. Mechanism of DNA unwinding by MCM8-9 in complex with HROB.
      Title: Mechanism of DNA unwinding by MCM8-9 in complex with HROB.
    7. Activity, substrate preference and structure of the HsMCM8/9 helicase.
      Title: Activity, substrate preference and structure of the HsMCM8/9 helicase.
    8. Enhancer-driven transcription of MCM8 by E2F4 promotes ATR pathway activation and glioma stem cell characteristics.
      Title: Enhancer-driven transcription of MCM8 by E2F4 promotes ATR pathway activation and glioma stem cell characteristics.
    9. Structural study of the N-terminal domain of human MCM8/9 complex.
      Title: Structural study of the N-terminal domain of human MCM8/9 complex.
    10. Associations of MCM8 rs3761873 and rs16991617 variants with abnormal uterine bleeding induced by copper intrauterine device.
      Title: Associations of MCM8 rs3761873 and rs16991617 variants with abnormal uterine bleeding induced by copper intrauterine device.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Premature ovarian failure 10
    MedGen: C4225402 OMIM: 612885 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of early menopause and the combined impact of identified variants.
    EBI GWAS Catalog
    Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.
    EBI GWAS Catalog
    Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
    EBI GWAS Catalog
    Host determinants of HIV-1 control in African Americans.
    EBI GWAS Catalog
    Loci at chromosomes 13, 19 and 20 influence age at natural menopause.
    EBI GWAS Catalog
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4816, MGC12866, MGC119522, MGC119523

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables MutLbeta complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables MutSalpha complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables MutSbeta complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to single-stranded DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in DNA replication IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in double-strand break repair via homologous recombination NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in female gamete generation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in male gamete generation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization to chromatin IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in recombinational interstrand cross-link repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MCM complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MCM8-MCM9 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MCM8-MCM9 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA helicase MCM8
    Names
    DNA replication licensing factor MCM8
    MCM8 minichromosome maintenance deficient 8
    REC homolog
    minichromosome maintenance complex component 8
    NP_001268449.1
    NP_001268450.1
    NP_001268451.1
    NP_115874.3
    NP_877954.1
    XP_016883594.1
    XP_047296508.1
    XP_047296509.1
    XP_047296510.1
    XP_047296511.1
    XP_054180111.1
    XP_054180112.1
    XP_054180113.1
    XP_054180114.1
    XP_054180115.1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_042869.2 RefSeqGene

      Range
      5002..53327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001281520.2 → NP_001268449.1  DNA helicase MCM8 isoform 1

      See identical proteins and their annotated locations for NP_001268449.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AJ439063, AL035461, BC101057
      Consensus CDS
      CCDS13094.1
      UniProtKB/Swiss-Prot
      B2RBG7, D3DW08, E7EQU7, Q495R4, Q495R6, Q495R7, Q86US4, Q969I5, Q9UJA3
      UniProtKB/TrEMBL
      A0A494C100
      Related
      ENSP00000368174.3, ENST00000378896.7
      Conserved Domains (1) summary
      COG1241
      Location:139 → 837
      Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]

    2. NM_001281521.2 → NP_001268450.1  DNA helicase MCM8 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon and uses an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1.
      Source sequence(s)
      AJ439063, AL035461, BC008830, BC101055
      Consensus CDS
      CCDS63227.1
      UniProtKB/TrEMBL
      A0A494C100
      Related
      ENSP00000368164.2, ENST00000378886.6
      Conserved Domains (3) summary
      cd00009
      Location:475 → 633
      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, ...
      COG1241
      Location:139 → 877
      Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
      pfam14551
      Location:98 → 223
      MCM_N; MCM N-terminal domain

    3. NM_001281522.2 → NP_001268451.1  DNA helicase MCM8 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
      Source sequence(s)
      AJ439063, AK297806, AL035461, BC008830
      Consensus CDS
      CCDS63226.1
      UniProtKB/Swiss-Prot
      Q9UJA3
      UniProtKB/TrEMBL
      B4DN82
      Related
      ENSP00000368161.1, ENST00000378883.5
      Conserved Domains (2) summary
      COG1241
      Location:139 → 790
      Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
      pfam14551
      Location:98 → 223
      MCM_N; MCM N-terminal domain

    4. NM_032485.6 → NP_115874.3  DNA helicase MCM8 isoform 1

      See identical proteins and their annotated locations for NP_115874.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1). Both variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AJ439063, AK297806, AL035461, BC008830
      Consensus CDS
      CCDS13094.1
      UniProtKB/Swiss-Prot
      B2RBG7, D3DW08, E7EQU7, Q495R4, Q495R6, Q495R7, Q86US4, Q969I5, Q9UJA3
      UniProtKB/TrEMBL
      A0A494C100
      Related
      ENSP00000478141.1, ENST00000610722.4
      Conserved Domains (1) summary
      COG1241
      Location:139 → 837
      Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]

    5. NM_182802.3 → NP_877954.1  DNA helicase MCM8 isoform 2

      See identical proteins and their annotated locations for NP_877954.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the internal coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AJ439063, AK297806, AL035461, AY158211
      Consensus CDS
      CCDS13095.1
      UniProtKB/Swiss-Prot
      Q9UJA3
      UniProtKB/TrEMBL
      B4DN82
      Related
      ENSP00000265187.4, ENST00000265187.4
      Conserved Domains (3) summary
      cd00009
      Location:419 → 577
      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, ...
      COG1241
      Location:139 → 821
      Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
      pfam14551
      Location:98 → 223
      MCM_N; MCM N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      5950652..5998977
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440552.1 → XP_047296508.1  DNA helicase MCM8 isoform X2

    2. XM_017028105.2 → XP_016883594.1  DNA helicase MCM8 isoform X1

      UniProtKB/TrEMBL
      A0A494C100
      Conserved Domains (3) summary
      cd00009
      Location:475 → 633
      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, ...
      COG1241
      Location:139 → 877
      Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
      pfam14551
      Location:98 → 223
      MCM_N; MCM N-terminal domain

    3. XM_047440553.1 → XP_047296509.1  DNA helicase MCM8 isoform X3

    4. XM_047440555.1 → XP_047296511.1  DNA helicase MCM8 isoform X5

    5. XM_047440554.1 → XP_047296510.1  DNA helicase MCM8 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      5990987..6039282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324137.1 → XP_054180112.1  DNA helicase MCM8 isoform X2

    2. XM_054324136.1 → XP_054180111.1  DNA helicase MCM8 isoform X1

    3. XM_054324138.1 → XP_054180113.1  DNA helicase MCM8 isoform X3

    4. XM_054324140.1 → XP_054180115.1  DNA helicase MCM8 isoform X5

    5. XM_054324139.1 → XP_054180114.1  DNA helicase MCM8 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJA3.2 GenPept UniProtKB/Swiss-Prot:Q9UJA3

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