MGME1 - mitochondrial genome maintenance exonuclease 1 Gene

Homo sapiens

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

Gene ID: 92667 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08410	MGME1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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