MGME1 (mitochondrial genome maintenance exonuclease 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
92667
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial genome maintenance exonuclease 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MGME1
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf72, DDK1, MTDPS11, bA504H3.4
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615076 16205 ENSG00000125871
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial DNA Deletion Syndrome mitochondrial dna depletion syndrome 11 rs587776943, rs587776944, rs1555789140 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease 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