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

Gene ID: 84515, updated on 8-Dec-2022

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
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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
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (5950652..5998977)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (5990987..6039282)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (5931298..5979623)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene KN motif and ankyrin repeat domains 1 pseudogene 1 Neighboring gene tRNA methyltransferase 6 non-catalytic subunit Neighboring gene MCM8 antisense RNA 1 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
  • 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. Associations of MCM8 rs3761873 and rs16991617 variants with abnormal uterine bleeding induced by copper intrauterine device. Shen Y, et al. J Obstet Gynaecol Res, 2022 Feb. PMID 34889489
  2. 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
  3. 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
  4. 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
  5. Crystal structure of the winged-helix domain of MCM8. Zeng H, et al. Biochem Biophys Res Commun, 2020 Jun 11. PMID 32295713

See all (74) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Knockdown of MCM8 functions as a strategy to inhibit the development and progression of osteosarcoma through regulating CTGF.
    Title: Knockdown of MCM8 functions as a strategy to inhibit the development and progression of osteosarcoma through regulating CTGF.
  4. Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.
    Title: Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.
  5. Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature.
    Title: Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature.
  6. Identification of mini-chromosome maintenance 8 as a potential prognostic marker and its effects on proliferation and apoptosis in gastric cancer.
    Title: Identification of mini-chromosome maintenance 8 as a potential prognostic marker and its effects on proliferation and apoptosis in gastric cancer.
  7. Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency.
    Title: Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency.
  8. A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.
    Title: A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.
  9. Crystal structure of the winged-helix domain of MCM8.
    Title: Crystal structure of the winged-helix domain of MCM8.
  10. MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.
    Title: MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.
Submit: New GeneRIF Correction See all GeneRIFs (29)

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
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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
 PubMed 
contributes_to single-stranded DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
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 cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
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
 PubMed 
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

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
    Q969I5, Q9UJA3
    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/Swiss-Prot
    Q9UJA3
    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
    Q969I5, Q9UJA3
    UniProtKB/TrEMBL
    B4DN82
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

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