MGME1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MGME1 |
| Official Name | mitochondrial genome maintenance exonuclease 1 [Source:HGNC Symbol;Acc:HGNC:16205] |
| Ensembl ID | ENSG00000125871 |
| Bio databases IDs | |
| Aliases | mitochondrial genome maintenance exonuclease 1 |
| Synonyms | 8430406I07Rik, bA504H3.4, C20orf72, DDK1, mitochondrial genome maintenance exonuclease 1, MTDPS11, RGD1307465 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MGME1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme
- flap endonuclease
- protein binding
- single-stranded DNA specific 5'-3' exodeoxyribonuclease
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MGME1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial DNA repair
- mitochondrial DNA replication
- mitochondrial genome maintenance
Cellular Component
Where in the cell the gene product is active
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding
- single-stranded DNA specific exodeoxyribonuclease activity
- single-stranded DNA specific 5'-3' exodeoxyribonuclease activity