MGME1

MGME1
Identifiers
Aliases	MGME1, C20orf72, DDK1, MTDPS11, bA504H3.4, mitochondrial genome maintenance exonuclease 1
External IDs	OMIM: 615076; MGI: 1921778; HomoloGene: 12573; GeneCards: MGME1; OMA:MGME1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p11.23 Start 17,969,018 bp[1] End 17,991,122 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 G1 Start 144,112,583 bp[2] End 144,123,147 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of arm myocardium of left ventricle cardiac muscle tissue of right atrium ventricular zone human penis amniotic fluid skin of thigh gingival epithelium trabecular bone deltoid muscle Top expressed in interventricular septum gastrula epiblast embryo morula right kidney blastocyst proximal tubule yolk sac muscle of thigh More reference expression data BioGPS n/a
Gene ontology Molecular function nuclease activity single-stranded DNA exodeoxyribonuclease activity exonuclease activity hydrolase activity Cellular component mitochondrion Biological process mitochondrial DNA replication mitochondrial DNA repair mitochondrial genome maintenance DNA repair nucleic acid phosphodiester bond hydrolysis cellular response to DNA damage stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 92667 74528 Ensembl ENSG00000125871 ENSMUSG00000027424 UniProt Q9BQP7 Q9CXC3 RefSeq (mRNA) NM_001310338 NM_001310339 NM_052865 NM_001363738 NM_001289630 NM_001289631 NM_028984 NM_001355688 RefSeq (protein) NP_001297267 NP_001297268 NP_443097 NP_001350667 NP_001276559 NP_001276560 NP_083260 NP_001342617 Location (UCSC) Chr 20: 17.97 – 17.99 Mb Chr 2: 144.11 – 144.12 Mb PubMed search [3] [4]
Wikidata
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Mitochondrial genome maintenance exonuclease 1, abbreviated as MGME1, is an enzyme that in humans is encoded by the MGME1 gene.^[5][6] MGME1 is a 344 amino acids long protein belonging to the PD-(D/E)XK family of nucleases.^[5][6] It localizes to mitochondria where it is important for maintenance of the mitochondrial genome. Loss of function mutations in MGME1 lead to defects in mitochondrial DNA, including mitochondrial DNA depletion, duplications, deletions and increased replication intermediates.^[6][5][7] Also, there is an accumulation of 7S DNA, a short single stranded linear DNA strand. MGME1 deficiency in humans leads to multisystemic mitochondrial disease.^[5]

Function

The activity of MGME1 has been studied using the purified protein in cell-free in vitro assays. Together these studies suggest that MGME1 functions to remove single stranded nucleotide flaps that arise during mitochondrial DNA replication and/or DNA repair. MGME1 has a strong preference for cutting single stranded DNA, with weak activity on duplex DNA, and no activity on RNA.^[5][6] It acts as an endo-/exonuclease, requiring a free 5´or 3´ end for cleavage.^[5][6] MGME1 can cut 5´ flap substrates that mimic primer/repair intermediates.^[5][8] Moreover, MGME1 removes single stranded 5´-flaps in reconstituted mitochondrial DNA replication assays where it is required to enable ligation of the newly synthesized strand.^[8]

References