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Mcm8 minichromosome maintenance 8 homologous recombination repair factor [ Mus musculus (house mouse) ]

Gene ID: 66634, updated on 28-Oct-2024

Summary

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Official Symbol
Mcm8provided by MGI
Official Full Name
minichromosome maintenance 8 homologous recombination repair factorprovided by MGI
Primary source
MGI:MGI:1913884
See related
Ensembl:ENSMUSG00000027353 AllianceGenome:MGI:1913884
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
5730432L01Rik
Summary
Predicted to enable several functions, including chromatin binding activity; mismatch repair complex binding activity; and single-stranded DNA binding activity. Predicted to contribute to single-stranded DNA helicase activity. Involved in double-strand break repair via homologous recombination; female gamete generation; and male gamete generation. Part of MCM8-MCM9 complex. Is expressed in several structures, including alimentary system; central nervous system; sensory organ; submandibular gland primordium; and vibrissa. Human ortholog(s) of this gene implicated in primary ovarian insufficiency 10. Orthologous to human MCM8 (minichromosome maintenance 8 homologous recombination repair factor). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Broad expression in CNS E11.5 (RPKM 5.2), liver E14 (RPKM 3.0) and 23 other tissues See more
Orthologs
human all
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Genomic context

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See Mcm8 in Genome Data Viewer
Location:
2 F2; 2 64.75 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (132658061..132686117)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (132816137..132844197)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene shieldin complex subunit 1 Neighboring gene predicted gene, 52525 Neighboring gene predicted gene, 22245 Neighboring gene chromogranin B Neighboring gene STARR-positive B cell enhancer ABC_E4502 Neighboring gene tRNA methyltransferase 6 Neighboring gene STARR-positive B cell enhancer ABC_E10152 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:132672271-132672472 Neighboring gene cardiolipin synthase 1 Neighboring gene leucine rich repeat neuronal 4 Neighboring gene predicted gene, 54154

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. MCM8-mediated mitophagy protects vascular health in response to nitric oxide signaling in a mouse model of Kawasaki disease. Lin M, et al. Nat Cardiovasc Res, 2023 Aug. PMID 39195969
  2. MCM8- and MCM9 Deficiencies Cause Lifelong Increased Hematopoietic DNA Damage Driving p53-Dependent Myeloid Tumors. Lutzmann M, et al. Cell Rep, 2019 Sep 10. PMID 31509747
  3. MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination. Lutzmann M, et al. Mol Cell, 2012 Aug 24. PMID 22771120
  4. The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery. O'Driscoll M. J Pathol, 2017 Jan. PMID 27757957
  5. MCM8 interacts with DDX5 to promote R-loop resolution. Wen C, et al. EMBO J, 2024 Jul. PMID 38858601, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MCM8-mediated mitophagy protects vascular health in response to nitric oxide signaling in a mouse model of Kawasaki disease.
    Title: MCM8-mediated mitophagy protects vascular health in response to nitric oxide signaling in a mouse model of Kawasaki disease.
  2. MCM8 interacts with DDX5 to promote R-loop resolution.
    Title: MCM8 interacts with DDX5 to promote R-loop resolution.
  3. MCM8- and MCM9 Deficiencies Cause Lifelong Increased Hematopoietic DNA Damage Driving p53-Dependent Myeloid Tumors.
    Title: MCM8- and MCM9 Deficiencies Cause Lifelong Increased Hematopoietic DNA Damage Driving p53-Dependent Myeloid Tumors.
  4. MCM8 and MCM9 form a complex and that they coregulate their stability.
    Title: MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Targeted (1)  1 citation

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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Homology

Gene Ontology Provided by MGI

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 DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables MutLbeta complex binding IEA
Inferred from Electronic Annotation
more info
  
enables MutLbeta complex binding ISO
Inferred from Sequence Orthology
more info
  
enables MutSalpha complex binding IEA
Inferred from Electronic Annotation
more info
  
enables MutSalpha complex binding ISO
Inferred from Sequence Orthology
more info
  
enables MutSbeta complex binding IEA
Inferred from Electronic Annotation
more info
  
enables MutSbeta complex binding ISO
Inferred from Sequence Orthology
more info
  
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
  
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
  
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
  
enables helicase activity IEA
Inferred from Electronic Annotation
more info
  
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA damage response ISO
Inferred from Sequence Orthology
more info
  
involved_in DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
  
involved_in DNA duplex unwinding ISO
Inferred from Sequence Orthology
more info
  
involved_in DNA replication IEA
Inferred from Electronic Annotation
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in female gamete generation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in male gamete generation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to chromatin IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to chromatin ISO
Inferred from Sequence Orthology
more info
  
involved_in protein stabilization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein stabilization ISO
Inferred from Sequence Orthology
more info
  
involved_in recombinational interstrand cross-link repair IEA
Inferred from Electronic Annotation
more info
  
involved_in recombinational interstrand cross-link repair ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
DNA helicase MCM8
Names
DNA replication licensing factor MCM8
minichromosome maintenance deficient 8
NP_001277983.1
NP_079952.2

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.

mRNA and Protein(s)

  1. NM_001291054.2 → NP_001277983.1  DNA helicase MCM8 isoform a

    See identical proteins and their annotated locations for NP_001277983.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL929562
    Consensus CDS
    CCDS71152.1
    UniProtKB/Swiss-Prot
    A2AVM8, A2AVM9, Q3UZG5, Q80US2, Q80VI0, Q9CWV1
    Related
    ENSMUSP00000028831.9, ENSMUST00000028831.15
    Conserved Domains (4) summary
    cd00009
    Location:428 → 586
    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:132 → 830
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
    pfam14551
    Location:91 → 216
    MCM_N; MCM N-terminal domain
    cl21521
    Location:676 → 747
    PEPcase; Phosphoenolpyruvate carboxylase

  2. NM_025676.5 → NP_079952.2  DNA helicase MCM8 isoform b

    See identical proteins and their annotated locations for NP_079952.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AL929562
    Consensus CDS
    CCDS16778.1
    UniProtKB/Swiss-Prot
    Q9CWV1
    Related
    ENSMUSP00000066842.6, ENSMUST00000066559.6
    Conserved Domains (4) summary
    cd00009
    Location:400 → 558
    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:104 → 802
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
    pfam14551
    Location:63 → 188
    MCM_N; MCM N-terminal domain
    cl21521
    Location:648 → 719
    PEPcase; Phosphoenolpyruvate carboxylase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    132658061..132686117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_003953691.2 RNA Sequence

  2. XR_004940695.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9CWV1.3 GenPept UniProtKB/Swiss-Prot:Q9CWV1

Gene LinkOut

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