MGME1 (mitochondrial genome maintenance exonuclease 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 92667
Gene name Mitochondrial genome maintenance exonuclease 1
Gene symbol MGME1
Synonyms (NCBI Gene)
C20orf72DDK1MTDPS11bA504H3.4
Chromosome 20
Chromosome location 20p11.23
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 hav
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs76599088 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant, intron variant
rs143417446 C>G,T Conflicting-interpretations-of-pathogenicity, not-provided Missense variant, coding sequence variant, intron variant
rs587776944 A>G Pathogenic Intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT005230 hsa-let-7b-5p pSILAC 18668040
MIRT005230 hsa-let-7b-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0004518 Function Nuclease activity IEA
GO:0004527 Function Exonuclease activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615076 16205 ENSG00000125871
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQP7
Protein name Mitochondrial genome maintenance exonuclease 1 (EC 3.1.-.-)
Protein function Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endonuclease activity on linear substrates. Necessary for maintenance of p
PDB 5ZYT , 5ZYU , 5ZYV , 5ZYW , 8XA9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12705 PDDEXK_1 149 → 343 PD-(D/E)XK nuclease superfamily Domain
Sequence 
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVL
SSRGVAQTPGSVEEDALLCGPVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVP
LKIPLQRNVIPSVTRVLQQTMTKQQVFLLERWKQRMILELGEDGFKEYTSNVFLQGKRFH
EALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESAVQHETLNYIGLLDCV
AEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKD
GSPAHPHFMDAELCSQYWTKWLLRLEEYTEKKKNQNIQKPEYSE
Sequence length 344
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial DNA depletion syndrome 11 Pathogenic; Likely pathogenic rs1555789140, rs587776943, rs587776944 RCV000578900
RCV000033150
RCV000033151
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs11551768 RCV005896298
Cervical cancer Benign rs11906337 RCV005906892
Cholangiocarcinoma Benign rs11906337 RCV005906897
Gastric cancer Benign rs11906337 RCV005906894
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 40286336
Ataxia Associate 28711739
Breast Neoplasms Associate 30570852
Cardiomyopathies Associate 28594148
Cardiomyopathy Dilated Associate 28594148
Cerebellar Ataxia Associate 28711739
Cerebellar Diseases Associate 28711739
Emaciation Associate 23313956, 30247721
Fundus Albipunctatus Associate 28711739
Glioma Associate 37166417