Property Summary

NCBI Gene PubMed Count 12
PubMed Score 7.27
PubTator Score 6.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
astrocytoma 1493 1.23172905662034E-14
non-small cell lung cancer 2798 3.9812494282403E-14
glioblastoma 5572 1.4117298535462E-10
juvenile dermatomyositis 1189 7.53627536640394E-9
atypical teratoid/rhabdoid tumor 1095 7.97245256506718E-8
pediatric high grade glioma 2712 4.69625397538127E-7
ependymoma 2514 7.19069081940763E-7
pilocytic astrocytoma 3086 1.0276553559225E-6
primitive neuroectodermal tumor 3031 6.77252090254404E-6
ovarian cancer 8492 9.15567221476231E-6
medulloblastoma, large-cell 6234 3.94336653324007E-5
group 3 medulloblastoma 2254 7.4055933926662E-5
subependymal giant cell astrocytoma 2287 0.00572993060631879
osteosarcoma 7933 0.00706234566662852
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0104002292404265
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0213367397925664
Disease Target Count Z-score Confidence
Chronic progressive external ophthalmoplegia 18 4.4 2.2

Expression

Synonym

Accession Q9BQP7 B2RDG5 D3DW29 Q96SW3
Symbols DDK1
MTDPS11
C20orf72
bA504H3.4

Gene

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG
Pig OMA EggNOG
Platypus OMA EggNOG
Chicken OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA EggNOG Inparanoid
C. elegans EggNOG Inparanoid

Pathway (1)

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
//

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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