Property Summary

NCBI Gene PubMed Count 19
Grant Count 11
R01 Count 3
Funding $2,015,113.05
PubMed Score 35.34
PubTator Score 17.92

Knowledge Summary

Patent (1,388)

Expression

  Differential Expression (11)

Disease log2 FC p
psoriasis -1.300 0.002
osteosarcoma -1.631 0.001
astrocytoma 1.100 0.050
atypical teratoid / rhabdoid tumor -1.100 0.001
Duchenne muscular dystrophy -1.335 0.000
juvenile dermatomyositis -1.328 0.000
Amyotrophic Lateral Sclerosis -1.309 0.000
primary pancreatic ductal adenocarcinoma -1.626 0.001
ductal carcinoma in situ -1.400 0.000
invasive ductal carcinoma -1.700 0.001
pancreatic cancer -1.700 0.000

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (9)

PMID Text
26866375 ADCK3/COQ8 localises to mitochondrial cristae and is targeted to this organelle via the presence of an N-terminal localisation signal
25540914 work reveals Mg(2+)-dependent ATPase activity of ADCK3, providing strong support for the theoretical prediction of this protein being a functional atypical kinase.
25498144 Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
25216398 a structural foundation for investigating the role of transmembrane association in regulating the biological activity of ADCK3
22036850 These observations highlight the importance of screening for a potentially treatable cause, CABC1/ADCK3 mutations
20877624 Observational study of gene-disease association. (HuGE Navigator)
18319074 Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ10 deficiency in muscle.
18319072 CABC1 gene mutations in four ubiquinone-deficient patients in three distinct families were reported.
11888884 play an important role in mediating p53-inducible apoptosis through the mitochondrial pathway.

AA Sequence

MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQGQDKHEEYFAE      1 - 70
NFGGPEGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYVASGPFREAGFPGQASSPLGR     71 - 140
ANGRLFANPRDSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQHKQTLSEHARERKVPVTR    141 - 210
IGRLANFGGLAVGLGFGALAEVAKKSLRSEDPSGKKAVLGSSPFLSEANAERIVRTLCKVRGAALKLGQM    211 - 280
LSIQDDAFINPHLAKIFERVRQSADFMPLKQMMKTLNNDLGPNWRDKLEYFEERPFAAASIGQVHLARMK    281 - 350
GGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNMLPEGLFPEHLIDVLRRELALECDYQREAACARKFRD    351 - 420
LLKGHPFFYVPEIVDELCSPHVLTTELVSGFPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPN    421 - 490
WSNFFYDPQQHKVALLDFGATREYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGYEVKVMEDAHL    491 - 560
DAILILGEAFASDEPFDFGTQSTTEKIHNLIPVMLRHRLVPPPEETYSLHRKMGGSFLICSKLKARFPCK    561 - 630
AMFEEAYSNYCKRQAQQ                                                         631 - 647
//

Text Mined References (30)

PMID Year Title
27499296 2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
27499294 2016 Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.
27106809 2016 ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
26866375 2016 AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation.
26818466 2016 Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25540914 2015 Preparation and characterization of human ADCK3, a putative atypical kinase.
25498144 2015 Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
25416956 2014 A proteome-scale map of the human interactome network.
25216398 2014 A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3.
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