Details for: COQ8A
Associated with
Other Information
Genular Protein ID: 1850792916
Symbol: COQ8A_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11888884
Title: Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.
PubMed ID: 11888884
PubMed ID: 15498874
Title: Large-scale cDNA transfection screening for genes related to cancer development and progression.
PubMed ID: 15498874
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 25498144
Title: Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
PubMed ID: 25498144
PubMed ID: 20580948
Title: Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.
PubMed ID: 20580948
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21296186
Title: Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants.
PubMed ID: 21296186
PubMed ID: 24270420
Title: ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
PubMed ID: 24270420
DOI: 10.1172/jci69000
PubMed ID: 25216398
Title: A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3.
PubMed ID: 25216398
DOI: 10.1021/ja505017f
PubMed ID: 24218524
Title: Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
PubMed ID: 24218524
PubMed ID: 25540914
Title: Preparation and characterization of human ADCK3, a putative atypical kinase.
PubMed ID: 25540914
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 27499294
Title: Cerebellar ataxia and coenzyme Q deficiency through loss of unorthodox kinase activity.
PubMed ID: 27499294
PubMed ID: 27499296
Title: Mitochondrial protein interaction mapping identifies regulators of respiratory chain function.
PubMed ID: 27499296
PubMed ID: 33988507
PubMed ID: 17344846
Title: Patterns of somatic mutation in human cancer genomes.
PubMed ID: 17344846
DOI: 10.1038/nature05610
PubMed ID: 18319072
Title: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
PubMed ID: 18319072
PubMed ID: 18319074
Title: ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
PubMed ID: 18319074
PubMed ID: 22036850
Title: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
PubMed ID: 22036850
PubMed ID: 24048965
Title: Heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy and extreme phenotypic variability.
PubMed ID: 24048965
PubMed ID: 26818466
Title: Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
PubMed ID: 26818466
DOI: 10.1111/cge.12742
PubMed ID: 27106809
Title: ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
PubMed ID: 27106809
DOI: 10.1111/ene.13003
Sequence Information:
- Length: 647
- Mass: 71950
- Checksum: DEF8F022027BF6CC
- Sequence:
MAAILGDTIM VAKGLVKLTQ AAVETHLQHL GIGGELIMAA RALQSTAVEQ IGMFLGKVQG QDKHEEYFAE NFGGPEGEFH FSVPHAAGAS TDFSSASAPD QSAPPSLGHA HSEGPAPAYV ASGPFREAGF PGQASSPLGR ANGRLFANPR DSFSAMGFQR RFFHQDQSPV GGLTAEDIEK ARQAKARPEN KQHKQTLSEH ARERKVPVTR IGRLANFGGL AVGLGFGALA EVAKKSLRSE DPSGKKAVLG SSPFLSEANA ERIVRTLCKV RGAALKLGQM LSIQDDAFIN PHLAKIFERV RQSADFMPLK QMMKTLNNDL GPNWRDKLEY FEERPFAAAS IGQVHLARMK GGREVAMKIQ YPGVAQSINS DVNNLMAVLN MSNMLPEGLF PEHLIDVLRR ELALECDYQR EAACARKFRD LLKGHPFFYV PEIVDELCSP HVLTTELVSG FPLDQAEGLS QEIRNEICYN ILVLCLRELF EFHFMQTDPN WSNFFYDPQQ HKVALLDFGA TREYDRSFTD LYIQIIRAAA DRDRETVRAK SIEMKFLTGY EVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.