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    Mgme1 mitochondrial genome maintenance exonuclease 1 [ Mus musculus (house mouse) ]

    Gene ID: 74528, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mgme1provided by MGI
    Official Full Name
    mitochondrial genome maintenance exonuclease 1provided by MGI
    Primary source
    MGI:MGI:1921778
    See related
    Ensembl:ENSMUSG00000027424 AllianceGenome:MGI:1921778
    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
    8430406I07Rik
    Summary
    Predicted to enable single-stranded DNA 5'-3' DNA exonuclease activity. Predicted to be involved in mitochondrial DNA repair and mitochondrial DNA replication. Located in mitochondrion. Is expressed in cerebral cortex ventricular layer. Human ortholog(s) of this gene implicated in mitochondrial DNA depletion syndrome 11. Orthologous to human MGME1 (mitochondrial genome maintenance exonuclease 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 5.7), genital fat pad adult (RPKM 4.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mgme1 in Genome Data Viewer
    Location:
    2 G1; 2 70.98 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (144112824..144123147)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (144270904..144281227)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene sorting nexin 5 Neighboring gene predicted gene, 26165 Neighboring gene STARR-positive B cell enhancer ABC_E5994 Neighboring gene STARR-positive B cell enhancer ABC_E5995 Neighboring gene small nucleolar RNA, C/D box 17 Neighboring gene STARR-seq mESC enhancer starr_05908 Neighboring gene STARR-positive B cell enhancer ABC_E9536 Neighboring gene ovo like zinc finger 2 Neighboring gene predicted gene, 34181

    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. Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction. Milenkovic D, et al. PLoS Genet, 2022 May. PMID 35533204, Free PMC Article
    2. Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria. Matic S, et al. Nat Commun, 2018 Mar 23. PMID 29572490, Free PMC Article
    3. Absence of both MGME1 and POLG EXO abolishes mtDNA whereas absence of either creates unique mtDNA duplications. Gonzalez CD, et al. J Biol Chem, 2024 Apr. PMID 38432635, Free PMC Article
    4. Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing. Basu S, et al. PLoS Genet, 2020 Dec. PMID 33315859, 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 (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables single-stranded DNA 5'-3' DNA exonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded DNA 5'-3' DNA exonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables single-stranded DNA exodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial DNA repair ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial genome maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial genome maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial genome maintenance exonuclease 1
    Names
    mitochondrial genome maintainance exonuclease 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.

    mRNA and Protein(s)

    1. NM_001289630.1 → NP_001276559.1  mitochondrial genome maintenance exonuclease 1

      See identical proteins and their annotated locations for NP_001276559.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
      Source sequence(s)
      AA866735, AK031535, AK049565, BB040330, BM942022
      Consensus CDS
      CCDS16816.1
      UniProtKB/Swiss-Prot
      A2ANA5, Q3TIC0, Q543Z8, Q9CXC3
      Related
      ENSMUSP00000105654.2, ENSMUST00000110027.2
      Conserved Domains (1) summary
      cl00641
      Location:191 → 324
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

    2. NM_001289631.1 → NP_001276560.1  mitochondrial genome maintenance exonuclease 1

      See identical proteins and their annotated locations for NP_001276560.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AA866735, AK018387, AK031535, AK159286, BB040330, BM942022
      Consensus CDS
      CCDS16816.1
      UniProtKB/Swiss-Prot
      A2ANA5, Q3TIC0, Q543Z8, Q9CXC3
      Related
      ENSMUSP00000105655.2, ENSMUST00000110028.8
      Conserved Domains (1) summary
      cl00641
      Location:191 → 324
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

    3. NM_001355688.1 → NP_001342617.1  mitochondrial genome maintenance exonuclease 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AL808123
      Consensus CDS
      CCDS16816.1
      UniProtKB/Swiss-Prot
      A2ANA5, Q3TIC0, Q543Z8, Q9CXC3
      Conserved Domains (1) summary
      cl00641
      Location:191 → 324
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

    4. NM_028984.5 → NP_083260.1  mitochondrial genome maintenance exonuclease 1

      See identical proteins and their annotated locations for NP_083260.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AA866735, AK018387, AK031535, BB040330, BM942022, BY136513
      Consensus CDS
      CCDS16816.1
      UniProtKB/Swiss-Prot
      A2ANA5, Q3TIC0, Q543Z8, Q9CXC3
      Related
      ENSMUSP00000028910.3, ENSMUST00000028910.9
      Conserved Domains (1) summary
      cl00641
      Location:191 → 324
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

    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
      144112824..144123147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CXC3.1 GenPept UniProtKB/Swiss-Prot:Q9CXC3

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

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