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Aliases for MGME1 Gene

Aliases for MGME1 Gene

  • Mitochondrial Genome Maintenance Exonuclease 1 2 3 5
  • C20orf72 3 4
  • DDK1 3 4
  • Chromosome 20 Open Reading Frame 72 2
  • EC 3.1.-.- 4
  • BA504H3.4 3
  • MTDPS11 3

External Ids for MGME1 Gene

Previous HGNC Symbols for MGME1 Gene

  • C20orf72

Summaries for MGME1 Gene

Entrez Gene Summary for MGME1 Gene

  • 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]

GeneCards Summary for MGME1 Gene

MGME1 (Mitochondrial Genome Maintenance Exonuclease 1) is a Protein Coding gene. Diseases associated with MGME1 include mitochondrial dna depletion syndrome 11 and mgme1-related mitochondrial dna depletion syndrome. GO annotations related to this gene include single-stranded DNA exodeoxyribonuclease activity.

UniProtKB/Swiss-Prot for MGME1 Gene

  • Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5-3 exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MGME1 Gene

Genomics for MGME1 Gene

Regulatory Elements for MGME1 Gene

Promoters for MGME1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MGME1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MGME1 Gene

Chromosome:
20
Start:
17,968,853 bp from pter
End:
17,991,122 bp from pter
Size:
22,270 bases
Orientation:
Plus strand

Genomic View for MGME1 Gene

Genes around MGME1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGME1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MGME1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MGME1 Gene

Proteins for MGME1 Gene

  • Protein details for MGME1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQP7-MGME1_HUMAN
    Recommended name:
    Mitochondrial genome maintenance exonuclease 1
    Protein Accession:
    Q9BQP7
    Secondary Accessions:
    • B2RDG5
    • D3DW29
    • Q96SW3

    Protein attributes for MGME1 Gene

    Size:
    344 amino acids
    Molecular mass:
    39421 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MGME1 Gene

Proteomics data for MGME1 Gene at MOPED

Post-translational modifications for MGME1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MGME1 Gene

No data available for DME Specific Peptides for MGME1 Gene

Domains & Families for MGME1 Gene

Gene Families for MGME1 Gene

Protein Domains for MGME1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BQP7

UniProtKB/Swiss-Prot:

MGME1_HUMAN :
  • Belongs to the MGME1 family.
Family:
  • Belongs to the MGME1 family.
genes like me logo Genes that share domains with MGME1: view

No data available for Suggested Antigen Peptide Sequences for MGME1 Gene

Function for MGME1 Gene

Molecular function for MGME1 Gene

UniProtKB/Swiss-Prot Function:
Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5-3 exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.

Enzyme Numbers (IUBMB) for MGME1 Gene

Phenotypes for MGME1 Gene

GenomeRNAi human phenotypes for MGME1:
genes like me logo Genes that share phenotypes with MGME1: view

Human Phenotype Ontology for MGME1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MGME1 Gene

miRTarBase miRNAs that target MGME1

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for MGME1 Gene

Localization for MGME1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGME1 Gene

Mitochondrion.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for MGME1 Gene

Pathways & Interactions for MGME1 Gene

SuperPathways for MGME1 Gene

No Data Available

Interacting Proteins for MGME1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000366939%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000366939 Q9BQP7-MGME1_HUMAN for MGME1 Gene via STRING MINT I2D

Gene Ontology (GO) - Biological Process for MGME1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006264 mitochondrial DNA replication IMP 23313956
GO:0043504 mitochondrial DNA repair IEA,TAS 23313956
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with MGME1: view

No data available for Pathways by source and SIGNOR curated interactions for MGME1 Gene

Drugs & Compounds for MGME1 Gene

No Compound Related Data Available

Transcripts for MGME1 Gene

Unigene Clusters for MGME1 Gene

Mitochondrial genome maintenance exonuclease 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MGME1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e
SP1: - -
SP2: - - -
SP3: -
SP4:
SP5: - -
SP6: -
SP7: - - - - - -
SP8: - -
SP9: - - - -
SP10:
SP11: - - - - - -

Relevant External Links for MGME1 Gene

GeneLoc Exon Structure for
MGME1
ECgene alternative splicing isoforms for
MGME1

Expression for MGME1 Gene

mRNA expression in normal human tissues for MGME1 Gene

Protein differential expression in normal tissues from HIPED for MGME1 Gene

This gene is overexpressed in Lymph node (13.7), Uterus (8.5), Tonsil (8.5), Blymphocyte (8.1), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for MGME1 Gene



SOURCE GeneReport for Unigene cluster for MGME1 Gene Hs.320823

genes like me logo Genes that share expression patterns with MGME1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MGME1 Gene

Orthologs for MGME1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MGME1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MGME1 35
  • 99.22 (n)
  • 99.13 (a)
MGME1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MGME1 36
  • 80 (a)
OneToOne
MGME1 35
  • 83.68 (n)
  • 81.31 (a)
dog
(Canis familiaris)
Mammalia MGME1 35
  • 78.9 (n)
  • 70.41 (a)
MGME1 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mgme1 16
Mgme1 35
  • 79 (n)
  • 71.94 (a)
Mgme1 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MGME1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mgme1 35
  • 80.16 (n)
  • 73.51 (a)
chicken
(Gallus gallus)
Aves C3H20ORF72 35
  • 63.94 (n)
  • 60.91 (a)
C3H20ORF72 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MGME1 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mgme1 35
  • 61.11 (n)
  • 56.85 (a)
zebrafish
(Danio rerio)
Actinopterygii mgme1 36
  • 50 (a)
OneToOne
mgme1 35
  • 59.17 (n)
  • 52.81 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for MGME1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MGME1 Gene

ENSEMBL:
Gene Tree for MGME1 (if available)
TreeFam:
Gene Tree for MGME1 (if available)

Paralogs for MGME1 Gene

No data available for Paralogs for MGME1 Gene

Variants for MGME1 Gene

Sequence variations from dbSNP and Humsavar for MGME1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_033758 -
VAR_069102 Mitochondrial DNA depletion syndrome 11 (MTDPS11)
rs1064081 -- 17,987,796(+) CAGTT(A/G)CTGGT intron-variant
rs876827 -- 17,972,574(-) TGAAA(A/G)TGAAA intron-variant
rs910904 -- 17,971,261(+) TATAT(A/G)TAGGT intron-variant

Variation tolerance for MGME1 Gene

Residual Variation Intolerance Score: 68.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.39; 54.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MGME1 Gene

HapMap Linkage Disequilibrium report
MGME1
Human Gene Mutation Database (HGMD)
MGME1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MGME1 Gene

Disorders for MGME1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MGME1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 11
  • mtdps11
mgme1-related mitochondrial dna depletion syndrome
  • mitochondrial dna depletion syndrome 11
progressive external ophthalmoplegia-myopathy-emaciation syndrome
  • mitochondrial dna maintenance syndrome due to mgme1 deficiency
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
inclusion body myositis
  • distal myopathy with rimmed vacuoles
- elite association - COSMIC cancer census association via MalaCards
Search MGME1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MGME1_HUMAN
  • Mitochondrial DNA depletion syndrome 11 (MTDPS11) [MIM:615084]: An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities. {ECO:0000269 PubMed:23313956}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for MGME1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MGME1
genes like me logo Genes that share disorders with MGME1: view

No data available for Genatlas for MGME1 Gene

Publications for MGME1 Gene

  1. Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels. (PMID: 23358826) Szczesny R.J. … Dziembowski A. (Nucleic Acids Res. 2013) 2 3 4 67
  2. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. (PMID: 23313956) Kornblum C. … Prokisch H. (Nat. Genet. 2013) 2 3
  3. Dynamic readers for 5-(hydroxy)methylcytosine and its oxidized derivatives. (PMID: 23434322) Spruijt C.G. … Vermeulen M. (Cell 2013) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Mitochondrial pathology in inclusion body myositis. (PMID: 25638290) Lindgren U. … Oldfors A. (Neuromuscul. Disord. 2015) 3

Products for MGME1 Gene

Sources for MGME1 Gene

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