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    MGME1 mitochondrial genome maintenance exonuclease 1 [ Homo sapiens (human) ]

    Gene ID: 92667, updated on 17-Jun-2024

    Summary

    Official Symbol
    MGME1provided by HGNC
    Official Full Name
    mitochondrial genome maintenance exonuclease 1provided by HGNC
    Primary source
    HGNC:HGNC:16205
    See related
    Ensembl:ENSG00000125871 MIM:615076; AllianceGenome:HGNC:16205
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DDK1; MTDPS11; C20orf72; bA504H3.4
    Summary
    The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
    Expression
    Ubiquitous expression in skin (RPKM 10.5), lymph node (RPKM 7.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MGME1 in Genome Data Viewer
    Location:
    20p11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (17968590..17991122)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (18019713..18042263)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (17949661..17971765)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17568 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:17887704-17887865 Neighboring gene RNA, U6 small nuclear 192, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17909901-17910427 Neighboring gene MPRA-validated peak4160 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17919356-17919949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17921137-17921728 Neighboring gene sorting nexin 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17573 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17948150-17948904 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17948905-17949659 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:17950167-17951366 Neighboring gene small nucleolar RNA, C/D box 17 Neighboring gene NANOG hESC enhancer GRCh37_chr20:17964055-17965008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:17980569-17981070 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17985803-17986364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17988051-17988612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17988613-17989173 Neighboring gene prothymosin alpha pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:18017759-18018259 Neighboring gene ovo like zinc finger 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:18034137-18034637 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:18036965-18037752

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14597

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA 5'-3' DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables single-stranded DNA exodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in mitochondrial DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial genome maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mitochondrial genome maintenance exonuclease 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_042236.1 RefSeqGene

      Range
      5128..27232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001310338.2NP_001297267.1  mitochondrial genome maintenance exonuclease 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001297267.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC016869, BM750186, BX382492, DB014120
      UniProtKB/Swiss-Prot
      Q9BQP7
      Conserved Domains (1) summary
      cl00641
      Location:148291
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
    2. NM_001310339.2NP_001297268.1  mitochondrial genome maintenance exonuclease 1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks three alternate coding exons compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC016869, BM750186, CV807140, DB014120
      Consensus CDS
      CCDS82600.1
      UniProtKB/TrEMBL
      Q5QPE7
      Related
      ENSP00000366933.4, ENST00000377704.4
    3. NM_001363738.2NP_001350667.1  mitochondrial genome maintenance exonuclease 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AF306686, AK310282, BC016869, BG684257, DB014120
      Consensus CDS
      CCDS86934.1
      UniProtKB/TrEMBL
      Q5QPE8
      Related
      ENSP00000366938.1, ENST00000377709.1
      Conserved Domains (1) summary
      cl00641
      Location:96205
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
    4. NM_052865.4NP_443097.1  mitochondrial genome maintenance exonuclease 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_443097.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BC016869, BM750186, DB014120
      Consensus CDS
      CCDS13131.1
      UniProtKB/Swiss-Prot
      B2RDG5, D3DW29, Q96SW3, Q9BQP7
      Related
      ENSP00000366939.5, ENST00000377710.10
      Conserved Domains (1) summary
      cl00641
      Location:176285
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      17968590..17991122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028128.2XP_016883617.1  mitochondrial genome maintenance exonuclease 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RDG5, D3DW29, Q96SW3, Q9BQP7
      Conserved Domains (1) summary
      cl00641
      Location:176285
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
    2. XM_047440586.1XP_047296542.1  mitochondrial genome maintenance exonuclease 1 isoform X5

    3. XM_047440584.1XP_047296540.1  mitochondrial genome maintenance exonuclease 1 isoform X4

    4. XM_011529394.1XP_011527696.1  mitochondrial genome maintenance exonuclease 1 isoform X1

      See identical proteins and their annotated locations for XP_011527696.1

      Conserved Domains (1) summary
      cl00641
      Location:148291
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
    5. XM_047440582.1XP_047296538.1  mitochondrial genome maintenance exonuclease 1 isoform X3

      UniProtKB/TrEMBL
      Q5QPE8
    6. XM_005260867.4XP_005260924.1  mitochondrial genome maintenance exonuclease 1 isoform X1

      See identical proteins and their annotated locations for XP_005260924.1

      Conserved Domains (1) summary
      cl00641
      Location:148291
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
    7. XM_017028127.3XP_016883616.1  mitochondrial genome maintenance exonuclease 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RDG5, D3DW29, Q96SW3, Q9BQP7
      Conserved Domains (1) summary
      cl00641
      Location:176285
      Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
    8. XM_047440585.1XP_047296541.1  mitochondrial genome maintenance exonuclease 1 isoform X5

    9. XM_047440583.1XP_047296539.1  mitochondrial genome maintenance exonuclease 1 isoform X3

      UniProtKB/TrEMBL
      Q5QPE8
    10. XM_006723663.5XP_006723726.1  mitochondrial genome maintenance exonuclease 1 isoform X4

    11. XM_005260870.5XP_005260927.1  mitochondrial genome maintenance exonuclease 1 isoform X5

      See identical proteins and their annotated locations for XP_005260927.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      18019713..18042263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324216.1XP_054180191.1  mitochondrial genome maintenance exonuclease 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RDG5, D3DW29, Q96SW3, Q9BQP7
    2. XM_054324223.1XP_054180198.1  mitochondrial genome maintenance exonuclease 1 isoform X5

    3. XM_054324220.1XP_054180195.1  mitochondrial genome maintenance exonuclease 1 isoform X4

    4. XM_054324214.1XP_054180189.1  mitochondrial genome maintenance exonuclease 1 isoform X1

    5. XM_054324217.1XP_054180192.1  mitochondrial genome maintenance exonuclease 1 isoform X3

      UniProtKB/TrEMBL
      Q5QPE8
    6. XM_054324213.1XP_054180188.1  mitochondrial genome maintenance exonuclease 1 isoform X1

    7. XM_054324215.1XP_054180190.1  mitochondrial genome maintenance exonuclease 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RDG5, D3DW29, Q96SW3, Q9BQP7
    8. XM_054324222.1XP_054180197.1  mitochondrial genome maintenance exonuclease 1 isoform X5

    9. XM_054324219.1XP_054180194.1  mitochondrial genome maintenance exonuclease 1 isoform X3

      UniProtKB/TrEMBL
      Q5QPE8
    10. XM_054324218.1XP_054180193.1  mitochondrial genome maintenance exonuclease 1 isoform X4

    11. XM_054324221.1XP_054180196.1  mitochondrial genome maintenance exonuclease 1 isoform X5