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

    Gene ID: 66634, updated on 2-Apr-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; genitourinary system; sensory organ; 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, Apr 2022]
    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
    • 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- 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
    2. 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
    3. The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery. O'Driscoll M. J Pathol, 2017 Jan. PMID 27757957
    4. Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia. Carninci P, et al. Genome Res, 2003 Jun. PMID 12819125, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (4) 

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables MutSalpha complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables MutSbeta complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell cycle 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein stabilization ISO
    Inferred from Sequence Orthology
    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 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_001291054.1 → 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)
      BC046780, BC052070, BY766288
      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_025676.4 → 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)
      AK133858, BC052070, BY766288
      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

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

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