Tbio MGME1 Mitochondrial genome maintenance exonuclease 1

Protein Summary

Description

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. 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 Accession IDs

• Q9BQP7
• B2RDG5
• D3DW29
• Q96SW3

Gene Name

• MGME1

Ensembl ID

• ENST00000377710
• ENSP00000366939
• ENSG00000125871

Symbol

• C20orf72
• DDK1
• DDK1
• MTDPS11
• C20orf72
• bA504H3.4

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.93
interacting protein	0.89
transcription factor binding site profile	0.87
transcription factor	0.72
tissue sample	0.63

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 22.82   (req: < 5)

Gene RIFs: 9   (req: <= 3)

Antibodies: 68   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 22.82   (req: >= 5)

Gene RIFs: 9   (req: > 3)

Antibodies: 68   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0