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    Mgme1 mitochondrial genome maintenance exonuclease 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 296200, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mgme1provided by RGD
    Official Full Name
    mitochondrial genome maintenance exonuclease 1provided by RGD
    Primary source
    RGD:1307465
    See related
    EnsemblRapid:ENSRNOG00000028196 AllianceGenome:RGD:1307465
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1307465
    Summary
    Predicted to enable single-stranded DNA 5'-3' DNA exonuclease activity. Predicted to be involved in mitochondrial DNA replication. Predicted to be active in mitochondrion. 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
    Biased expression in Adrenal (RPKM 37.0), Kidney (RPKM 33.6) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mgme1 in Genome Data Viewer
    Location:
    3q41
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (152094514..152103314)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (131640770..131649933)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (138397925..138406672)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC103691911 Neighboring gene uncharacterized LOC134486457 Neighboring gene sorting nexin 5 Neighboring gene small nucleolar RNA, C/D box 17 Neighboring gene pyrroline-5-carboxylate reductase 3, pseudogene 1 Neighboring gene ovo-like zinc finger 2 Neighboring gene small nucleolar RNA SNORA36 family

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Kornblum C, et al. Nat Genet, 2013 Feb. PMID 23313956, Free PMC Article
    2. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC105769

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables single-stranded DNA 5'-3' DNA exonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial DNA repair 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
    		  
    Component Evidence Code Pubs
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial genome maintenance 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_001009655.2 → NP_001009655.1  mitochondrial genome maintenance exonuclease 1 isoform a

      See identical proteins and their annotated locations for NP_001009655.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A6K746, A6K748, F7EWY8, Q5PPI6
      Conserved Domains (1) summary
      cl00641
      Location:147 → 282
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

    2. NM_001431522.1 → NP_001418451.1  mitochondrial genome maintenance exonuclease 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A6K746, A6K748, F7EWY8, Q5PPI6

    3. NM_001431523.1 → NP_001418452.1  mitochondrial genome maintenance exonuclease 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A6K746, A6K748, F7EWY8, Q5PPI6

    4. NM_001431524.1 → NP_001418453.1  mitochondrial genome maintenance exonuclease 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A6K746, A6K748, F7EWY8, Q5PPI6

    5. NM_001431525.1 → NP_001418454.1  mitochondrial genome maintenance exonuclease 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003

    6. NM_001431526.1 → NP_001418455.1  mitochondrial genome maintenance exonuclease 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003

    7. NM_001431527.1 → NP_001418456.1  mitochondrial genome maintenance exonuclease 1 isoform c

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A6K749

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      152094514..152103314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006235121.4 → XP_006235183.1  mitochondrial genome maintenance exonuclease 1 isoform X1

      Conserved Domains (1) summary
      cl00641
      Location:147 → 282
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

    2. XM_063283345.1 → XP_063139415.1  mitochondrial genome maintenance exonuclease 1 isoform X2

    3. XM_006235120.5 → XP_006235182.1  mitochondrial genome maintenance exonuclease 1 isoform X1

      Related
      ENSRNOP00000034141.6, ENSRNOT00000038865.6
      Conserved Domains (1) summary
      cl00641
      Location:147 → 282
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

    4. XM_039104595.2 → XP_038960523.1  mitochondrial genome maintenance exonuclease 1 isoform X2

    5. XM_006235123.4 → XP_006235185.1  mitochondrial genome maintenance exonuclease 1 isoform X1

      Conserved Domains (1) summary
      cl00641
      Location:147 → 282
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

    6. XM_063283344.1 → XP_063139414.1  mitochondrial genome maintenance exonuclease 1 isoform X3

    Nucleotide Protein Strain
    Heading Accession and Version

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