Property Summary

NCBI Gene PubMed Count 12
Grant Count 1
Funding $16,666.67
PubMed Score 7.27
PubTator Score 6.99

Knowledge Summary

Patent

No data available

Expression

Gene RIF (4)

PMID Text
24986917 MGME1-mediated mtDNA processing is essential for faithful mitochondrial genome replication and might be required for intramolecular recombination of mtDNA.
23358826 Overexperssion of Ddk1 decreases the levels of 7S DNA, suggesting an important role of the protein in 7S DNA regulation.
23313956 Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPG      1 - 70
SVEEDALLCGPVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQT     71 - 140
MTKQQVFLLERWKQRMILELGEDGFKEYTSNVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQ    141 - 210
HILKDVSGVRALESAVQHETLNYIGLLDCVAEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMN    211 - 280
HDTNYSFQVQCGLIVVAYKDGSPAHPHFMDAELCSQYWTKWLLRLEEYTEKKKNQNIQKPEYSE          281 - 344
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Text Mined References (16)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25638290 2015 Mitochondrial pathology in inclusion body myositis.
24986917 2014 Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.
23434322 2013 Dynamic readers for 5-(hydroxy)methylcytosine and its oxidized derivatives.
23358826 2013 Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels.
23313956 2013 Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
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