UniProt Protein Function: | MGME1: an endo-/exonuclease involved in mitochondrial genome maintenance. Lacks detectable ribonuclease activity. Degrades DNA mainly in a 3'5' direction with a strong preference for single-stranded DNA. Requires free ends for its activity. Does not degrade circular substrates. 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. Overexpression decreases the levels of 7S DNA, suggesting an important role in 7S DNA regulation. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOAX), characterized by external ophthalmoplegia, emaciation and respiratory failure. Muscle biopsies show mtDNA depletion and multiple mtDNA deletions. A protein of the PD-(D/E)XK superfamily and MGME1 family. Belongs to the MGME1 family.Protein type: Deoxyribonuclease; EC 3.1.-.-; MitochondrialChromosomal Location of Human Ortholog: 20p11.23Cellular Component: mitochondrionMolecular Function: single-stranded DNA specific exodeoxyribonuclease activityBiological Process: mitochondrial DNA repair; mitochondrial DNA replication; mitochondrial genome maintenanceDisease: Mitochondrial Dna Depletion Syndrome 11 |
UniProt Protein Details: | |
NCBI 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] |
UniProt Code: | Q9BQP7 |
NCBI GenInfo Identifier: | 878298212 |
NCBI Gene ID: | 92667 |
NCBI Accession: | NP_001297267.1 |
UniProt Secondary Accession: | Q9BQP7,Q96SW3, B2RDG5, D3DW29 |
UniProt Related Accession: | Q9BQP7 |
Molecular Weight: | 39,421 Da |
NCBI Full Name: | mitochondrial genome maintenance exonuclease 1 isoform 1 |
NCBI Synonym Full Names: | mitochondrial genome maintenance exonuclease 1 |
NCBI Official Symbol: | MGME1Â Â |
NCBI Official Synonym Symbols: | DDK1; MTDPS11; C20orf72; bA504H3.4Â Â |
NCBI Protein Information: | mitochondrial genome maintenance exonuclease 1 |
UniProt Protein Name: | Mitochondrial genome maintenance exonuclease 1 |
UniProt Synonym Protein Names: | |
Protein Family: | Mitochondrial genome maintenance exonuclease |
UniProt Gene Name: | MGME1Â Â |
UniProt Entry Name: | MGME1_HUMAN |