Property Summary

NCBI Gene PubMed Count 19
PubMed Score 35.34
PubTator Score 17.92

Knowledge Summary

Patent (1,388)

Expression

  Differential Expression (11)

Disease log2 FC p
psoriasis -1.300 2.2e-03
osteosarcoma -1.631 1.2e-03
astrocytoma 1.100 5.0e-02
atypical teratoid / rhabdoid tumor -1.100 5.6e-04
Duchenne muscular dystrophy -1.335 4.5e-04
juvenile dermatomyositis -1.328 5.0e-05
Amyotrophic Lateral Sclerosis -1.309 2.5e-04
primary pancreatic ductal adenocarcinoma -1.626 1.5e-03
ductal carcinoma in situ -1.400 2.2e-04
invasive ductal carcinoma -1.700 1.2e-03
pancreatic cancer -1.700 1.3e-04

Protein-protein Interaction (2)

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.
24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
24218524 2014 Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
24048965 2014 Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.
22036850 2012 Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
21296186 2011 Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20580948 2010 Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.
18319074 2008 ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
18319072 2008 CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11888884 2002 Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.