MGME1 - mitochondrial genome maintenance exonuclease 1 Gene

Also Known as DDK1; MTDPS11; C20orf72; bA504H3.4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92667

About MGME1

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:17,968,590-17,991,122 (from NCBI)

This gene has 5 transcripts (splice variants), 211 orthologues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 10.5), lymph node (RPKM 7.8) and 24 other tissues.

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]

MGME1 Products (4)

mRNA	Protein	Name
NM_001310338.2	NP_001297267.1	mitochondrial genome maintenance exonuclease 1 isoform 1 precursor
NM_001310339.2	NP_001297268.1	mitochondrial genome maintenance exonuclease 1 isoform 3 precursor
NM_001363738.2	NP_001350667.1	mitochondrial genome maintenance exonuclease 1 isoform 4
NM_052865.4	NP_443097.1	mitochondrial genome maintenance exonuclease 1 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables single-stranded DNA 5'-3' DNA exonuclease activity	IDA IDA: Inferred from direct assay	23313956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial DNA replication	IMP IMP: Inferred from mutant phenotype	23313956	GOA
involved in mitochondrial genome maintenance	IMP IMP: Inferred from mutant phenotype	23313956	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	23313956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MGME1 Protein Structure

PDDEXK_1

0
100
200
300
344 a.a.

Protein Preferred Names	Protein Names
mitochondrial genome maintenance exonuclease 1

MGME1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MGME1	Q9BQP7	DCDC2	Homo sapiens	Q9UHG0	Validated Y2H	32296183
Intra	MGME1	Q9BQP7	DCDC2	Homo sapiens	Q9UHG0	Y2H Prey Pooling	32296183
Intra	MGME1	Q9BQP7	DCDC2	Homo sapiens	Q9UHG0	Y2H Array	32296183
Intra	MGME1	Q9BQP7	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183
Intra	MGME1	Q9BQP7	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183
Intra	MGME1	Q9BQP7	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Dna Depletion Syndrome 11	MTDPS11 Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency Peo-Myopathy-Emaciation Syndrome Mtdna Maintenance Syndrome Due To Mgme1 Deficiency Mitochondrial Dna Depletion Syndrome, Type 11
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
Mitochondrial Dna Depletion Syndrome 8a	Mitochondrial Dna Depletion Syndrome 8b MTDPS8A Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related Rrm2b-Related Mitochondrial Dna Depletion Syndrome Encephalomyopathic Type With Renal Tubulopathy Rrm2b-Mds Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive MTDPS8B Mitochondrial Dna Depletion Syndrome 8b Mngie Type Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related Mngie Rrm2b-Related Visceral Myopathy Familial External Ophthalmoplegia Mitochondrial Dna Depletion Syndrome, Type 8a
Mitochondrial Dna Depletion Syndrome 2	Mitochondrial Dna Depletion Syndrome, Myopathic Form MTDPS2 Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy, Tk2-Related Tk2-Related Mitochondrial Dna Depletion Myopathy Mtdna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy Tk2-Related Mitochondrial Dna Depletion Syndrome 2 Myopathic Type Myopathic Mitochondrial Dna Depletion Syndrome Mitochondrial Dna Depletion Syndrome, Type 2
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Mitochondrial Dna Depletion Syndrome 14	MTDPS14 Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type Mitochondrial Dna Depletion Syndrome, Type 14
Malignant Giant Cell Tumor Of Soft Parts	Malignant Giant Cell Neoplasm Of Soft Parts
Mitochondrial Dna Depletion Syndrome 7	Ohaha Syndrome Infantile Onset Spinocerebellar Ataxia Iosca Infantile-Onset Spinocerebellar Ataxia Spinocerebellar Ataxia 8 MTDPS7 Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome Sca8 Spinocerebellar Ataxia Infantile With Sensory Neuropathy Spinocerebellar Ataxia, Infantile-Onset Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy Spinocerebellar Ataxia 8, Formerly Sca8, Formerly Iosca, Mitochondrial Dna Depletion Syndrome 7 Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mtdna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Spinocerebellar Ataxia Infantile-Onset Mitochondrial Dna Depletion Syndrome , Type 7
Chronic Progressive External Ophthalmoplegia	Progressive External Ophthalmoplegia Cpeo Peo Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, External, Progressive, Chronic Graefe Disease Peo - [Progressive External Ophthalmoplegia] Ophthalmoplegia Plus Syndrome
Mitochondrial Dna Depletion Syndrome 1	MTDPS1 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related Myoneurogastrointestinal Encephalopathy Syndrome Polip Syndrome Mitochondrial Dna Depletion Syndrome, Type 1 Mngie, Tymp-Related Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction Mitochondrial Dna Depletion Syndrome 1, Mngie Type Mitochondrial Neurogastrointestinal Encephalomyopathy Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related Myoneurogastrointestinal Encephalomyopathy Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Corneal Dystrophy, Posterior Polymorphous, 1	Posterior Polymorphous Corneal Dystrophy Ppcd Maumenee Corneal Dystrophy Posterior Polymorphous Corneal Dystrophy 1 PPCD1 Corneal Dystrophy, Hereditary Polymorphous Posterior Corneal Endothelial Dystrophy 1, Autosomal Dominant Schlichting Dystrophy Ched1 Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly Ched1, Formerly Hereditary Polymorphus Posterior Corneal Dystrophy Posterior Polymorphous Dystrophy Hereditary Polymorphous Posterior Corneal Dystrophy Dystrophy, Corneal, Posterior Polymorphous Dystrophy, Corneal, Posterior Polymorphous, Type 1 Polymorphous Corneal Dystrophy Corneal Endothelial Dystrophy 2
Pearson Marrow-Pancreas Syndrome	Pearson Syndrome Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction Pearson'S Marrow/Pancreas Syndrome Pearson'S Syndrome Pearson'S Marrow-Pancreas Syndrome
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Tetraamelia Syndrome	Tetra-Amelia Syndrome Tetraamelia-Multiple Malformations Syndrome Tetra-Amelia Tetra-Amelia, Autosomal Recessive Tetraamelia, Autosomal Recessive Total Amelia Zimmer Phocomelia Tetams Zimmer Taub Sova Syndrome
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08410	MGME1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20989	Mgme1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27506	Mgme1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MGME1	RGD	RGD:1307465
Felis catus	MGME1	VGNC	VGNC:63490
Bos taurus	MGME1	VGNC	VGNC:31450
Mus musculus	MGME1	MGD	MGI:1921778
Macaca mulatta	MGME1	VGNC	VGNC:74517
Others	MGME1	NCBI