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

Gene ID: 74528, updated on 27-Nov-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, Nov 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

Gene LinkOut

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