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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 ge ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000377710
  • ENSP00000366939
  • ENSG00000125871

Symbol
  • C20orf72
  • DDK1
  • DDK1
  • MTDPS11
  • C20orf72
  • bA504H3.4
Illumination Graph
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: 19.29   (req: < 5)
Gene RIFs: 7   (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: 19.29   (req: >= 5)
Gene RIFs: 7   (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
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (57)
TRIM45
Tbio
Novelty:  0.03874681
p_int:  0.999999162
p_ni:  2.1e-8
p_wrong:  8.17e-7
Score:  0.297
Data Source:  BioPlex,STRINGDB
MIPEP
Tbio
Family:  Enzyme
Novelty:  0.01507033
p_int:  0.999880923
p_ni:  0.000119077
Score:  0.201
Data Source:  BioPlex,STRINGDB
LUZP1
Tbio
Novelty:  0.14991475
p_int:  0.999713897
p_ni:  0.000286096
p_wrong:  8e-9
Score:  0.188
Data Source:  BioPlex,STRINGDB
POLG
Tchem
Family:  Enzyme
Novelty:  0.00172189
p_int:  0.999428278
p_ni:  0.000571722
Score:  0.659
Data Source:  BioPlex,STRINGDB
ECSIT
Tbio
Novelty:  0.04690184
p_int:  0.99905882
p_ni:  0.00094118
Score:  0.782
Data Source:  BioPlex,STRINGDB
FKBP4
Tchem
Family:  Enzyme
Novelty:  0.0023525
p_int:  0.99892446
p_ni:  0.00107554
Score:  0.244
Data Source:  BioPlex,STRINGDB
C2orf73
Tdark
Novelty:  0.8689571
p_int:  0.990921901
p_ni:  0.009078099
Data Source:  BioPlex
THNSL1
Tdark
Family:  Enzyme
Novelty:  1.98275016
p_int:  0.970436192
p_ni:  0.029471479
p_wrong:  0.000092329
Score:  0.179
Data Source:  BioPlex,STRINGDB
GCSH
Tbio
Novelty:  0.02101972
p_int:  0.959446028
p_ni:  0.040553972
Data Source:  BioPlex
WDHD1
Tbio
Novelty:  0.01511313
p_int:  0.949773984
p_ni:  0.050225378
p_wrong:  6.39e-7
Score:  0.287
Data Source:  BioPlex,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (6)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mitochondrial DNA measurement
1
1
1
75.4
mean corpuscular hemoglobin concentration
1
1
1
59
red blood cell density measurement
1
1
1
52.7
diastolic blood pressure
1
1
1
13
autoimmune thyroid disease
1
1
0
1.1
10.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mitochondrial DNA measurement
1
75.4
mean corpuscular hemoglobin concentration
1
59
red blood cell density measurement
1
52.7
diastolic blood pressure
1
13
autoimmune thyroid disease
0
1.1
10.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
mitochondrial genome maintenance exonuclease 1
VGNC:6189
736809
Macaque
mitochondrial genome maintenance exonuclease 1
696467
Mouse
MGI:1921778
74528
Rat
RGD:1307465
296200
Horse
mitochondrial genome maintenance exonuclease 1
VGNC:20162
100050596
Species
Name
OMA
EggNOG
Inparanoid
Chimp
mitochondrial genome maintenance exonuclease 1
Macaque
mitochondrial genome maintenance exonuclease 1
Mouse
Rat
Horse
mitochondrial genome maintenance exonuclease 1
Publication Statistics
PubMed Score 19.29
PubMed score by year
PubTator Score 10.78
PubTator score by year
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Related Publications
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PMID
Year
Title