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Aliases for ADCK3 Gene

Aliases for ADCK3 Gene

  • AarF Domain Containing Kinase 3 2 3
  • CABC1 3 4 6
  • AarF Domain-Containing Protein Kinase 3 3 4
  • COQ10D4 3 6
  • ARCA2 3 6
  • SCAR9 3 6
  • COQ8 3 6
  • Chaperone, ABC1 Activity Of Bc1 Complex Homolog (S. Pombe) 2
  • Chaperone, ABC1 Activity Of Bc1 Complex Like (S. Pombe) 2
  • Chaperone-ABC1 (Activity Of Bc1 Complex, S.Pombe)-Like 2
  • Chaperone Activity Of Bc1 Complex-Like, Mitochondrial 3
  • Chaperone, ABC1 Activity Of Bc1 Complex Homolog 3
  • Chaperone Activity Of Bc1 Complex-Like 4
  • Atypical Kinase ADCK3, Mitochondrial 3
  • Coenzyme Q8 Homolog (Yeast) 2
  • Coenzyme Q8 Homolog 3
  • Chaperone-ABC1-Like 4
  • EC 2.7.-.- 4
  • EC 2.7.11 63

External Ids for ADCK3 Gene

Previous HGNC Symbols for ADCK3 Gene

  • CABC1

Previous GeneCards Identifiers for ADCK3 Gene

  • GC01P227087

Summaries for ADCK3 Gene

Entrez Gene Summary for ADCK3 Gene

  • This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADCK3 Gene

ADCK3 (AarF Domain Containing Kinase 3) is a Protein Coding gene. Diseases associated with ADCK3 include coenzyme q10 deficiency, primary, 4 and cabc1-related coenzyme q10 deficiency. GO annotations related to this gene include protein serine/threonine kinase activity. An important paralog of this gene is ADCK4.

UniProtKB/Swiss-Prot for ADCK3 Gene

  • Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:25498144). Its substrate specificity is unclear: either acts as protein kinase that phosphorylates other proteins in the CoQ complex to stabilize their interactions or acts as a small molecule kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway (PubMed:25498144). Shows an unusual selectivity for binding ADP over ATP (PubMed:25498144).

Gene Wiki entry for ADCK3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADCK3 Gene

Genomics for ADCK3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ADCK3 Gene

Start:
226,897,536 bp from pter
End:
226,987,545 bp from pter
Size:
90,010 bases
Orientation:
Plus strand

Genomic View for ADCK3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADCK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCK3 Gene

No data available for Regulatory Elements for ADCK3 Gene

Proteins for ADCK3 Gene

  • Protein details for ADCK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NI60-ADCK3_HUMAN
    Recommended name:
    Atypical kinase ADCK3, mitochondrial
    Protein Accession:
    Q8NI60
    Secondary Accessions:
    • Q5T7A5
    • Q63HK0
    • Q8NCJ6
    • Q9HBQ1
    • Q9NQ67

    Protein attributes for ADCK3 Gene

    Size:
    647 amino acids
    Molecular mass:
    71950 Da
    Quaternary structure:
    • Homodimer; homodimerizes via its transmembrane region.

    Three dimensional structures from OCA and Proteopedia for ADCK3 Gene

    Alternative splice isoforms for ADCK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADCK3 Gene

Proteomics data for ADCK3 Gene at MOPED

Selected DME Specific Peptides for ADCK3 Gene

Post-translational modifications for ADCK3 Gene

  • Ubiquitination at Lys246, Lys295, Lys310, Lys314, Lys327, and Lys642
  • Modification sites at PhosphoSitePlus

Other Protein References for ADCK3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains for ADCK3 Gene

Gene Families for ADCK3 Gene

Protein Domains for ADCK3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8NI60

UniProtKB/Swiss-Prot:

ADCK3_HUMAN :
  • Q8NI60
Domain:
  • Adopts an atypical protein kinase-like fold: while it adopts a core fold similar to that of well-characterized protein kinase-like domains, a number of features are positioned to inhibit the kinase activity: (1) an atypical AAAS motif in an alanine-rich (A-rich) loop that replaces the canonical glycine-rich (G-rich) nucleotide-binding loop and limits ATP binding by establishing an unusual selectivity for ADP and (2) an N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
genes like me logo Genes that share domains with ADCK3: view

Function for ADCK3 Gene

Molecular function for ADCK3 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Autoinhibited by the N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket.
UniProtKB/Swiss-Prot Function:
Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:25498144). Its substrate specificity is unclear: either acts as protein kinase that phosphorylates other proteins in the CoQ complex to stabilize their interactions or acts as a small molecule kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway (PubMed:25498144). Shows an unusual selectivity for binding ADP over ATP (PubMed:25498144).
UniProtKB/Swiss-Prot Induction:
By p53/TP53

Enzyme Numbers (IUBMB) for ADCK3 Gene

Gene Ontology (GO) - Molecular Function for ADCK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity --
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IDA 25498144
GO:0016772 transferase activity, transferring phosphorus-containing groups --
genes like me logo Genes that share ontologies with ADCK3: view
genes like me logo Genes that share phenotypes with ADCK3: view

Animal Model Products

miRNA for ADCK3 Gene

miRTarBase miRNAs that target ADCK3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADCK3

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ADCK3 Gene

Localization for ADCK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCK3 Gene

Mitochondrion. Membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for ADCK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 25498144
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADCK3: view

No data available for Subcellular locations from COMPARTMENTS for ADCK3 Gene

Pathways for ADCK3 Gene

SuperPathways for ADCK3 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q8NI60-ADCK3_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for ADCK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation --
GO:0006744 ubiquinone biosynthetic process IMP 25498144
GO:0008219 cell death --
GO:0016310 phosphorylation IDA 25498144
genes like me logo Genes that share ontologies with ADCK3: view

No data available for Pathways by source for ADCK3 Gene

Transcripts for ADCK3 Gene

Unigene Clusters for ADCK3 Gene

AarF domain containing kinase 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADCK3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADCK3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - -
SP4: - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - -
SP6: - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - -
SP10: - - -
SP11: - - - - -
SP12: - -
SP13: -
SP14: -

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for ADCK3 Gene

GeneLoc Exon Structure for
ADCK3
ECgene alternative splicing isoforms for
ADCK3

Expression for ADCK3 Gene

mRNA expression in normal human tissues for ADCK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADCK3 Gene

This gene is overexpressed in Muscle - Skeletal (16.7).

Protein differential expression in normal tissues for ADCK3 Gene

This gene is overexpressed in Tonsil (18.5) and Heart (15.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ADCK3 Gene

SOURCE GeneReport for Unigene cluster for ADCK3 Gene Hs.118241

mRNA Expression by UniProt/SwissProt for ADCK3 Gene

Q8NI60-ADCK3_HUMAN
Tissue specificity: Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle.
genes like me logo Genes that share expressions with ADCK3: view

Expression partners for ADCK3 Gene

In Situ Assay Products

Orthologs for ADCK3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADCK3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ADCK3 35
  • 87.02 (n)
  • 87.48 (a)
ADCK3 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADCK3 35
  • 81.69 (n)
  • 80.73 (a)
ADCK3 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adck3 35
  • 84.04 (n)
  • 87.68 (a)
Adck3 16
Adck3 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADCK3 35
  • 98.89 (n)
  • 98.82 (a)
ADCK3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adck3 35
  • 84.96 (n)
  • 87.6 (a)
oppossum
(Monodelphis domestica)
Mammalia ADCK3 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADCK3 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADCK3 35
  • 72.25 (n)
  • 76.08 (a)
ADCK3 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCK3 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adck3 35
  • 68.94 (n)
  • 70.36 (a)
Str.6968 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.23747 35
zebrafish
(Danio rerio)
Actinopterygii adck3 35
  • 67.33 (n)
  • 70.96 (a)
Dr.11473 35
adck3 36
  • 68 (a)
OneToMany
ADCK3 (2 of 2) 36
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32649 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea coq-8 35
  • 52.28 (n)
  • 53.2 (a)
coq-8 36
  • 33 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR181W 35
  • 50.42 (n)
  • 43.19 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B00539g 35
  • 47.3 (n)
  • 43.02 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ8 35
  • 45.02 (n)
  • 41.72 (a)
COQ8 36
  • 39 (a)
OneToMany
COQ8 38
bread mold
(Neurospora crassa)
Ascomycetes NCU03823 35
  • 55.74 (n)
  • 49.53 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes abc1 35
  • 50.27 (n)
  • 47.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
Species with no ortholog for ADCK3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADCK3 Gene

ENSEMBL:
Gene Tree for ADCK3 (if available)
TreeFam:
Gene Tree for ADCK3 (if available)

Paralogs for ADCK3 Gene

Paralogs for ADCK3 Gene

Selected SIMAP similar genes for ADCK3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ADCK3: view

Variants for ADCK3 Gene

Sequence variations from dbSNP and Humsavar for ADCK3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs8159 -- 226,987,201(-) CCCAT(C/T)GGCTG utr-variant-3-prime
rs10482 -- 226,987,418(-) CTCTC(C/T)GGACA utr-variant-3-prime
rs12593 Likely benign 226,984,589(-) AACTC(A/G)AACAG reference, synonymous-codon
rs743603 -- 226,919,924(+) AGTTT(C/G)ATCCA intron-variant
rs743604 -- 226,920,283(-) CAGTC(A/T)CTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADCK3 Gene

Variant ID Type Subtype PubMed ID
dgv535n71 CNV Loss 21882294
nsv520923 CNV Loss 19592680
esv2724029 CNV Deletion 23290073
esv2724040 CNV Deletion 23290073
esv2724051 CNV Deletion 23290073
esv27984 CNV Loss 19812545
esv2724062 CNV Deletion 23290073
esv7588 CNV Loss 19470904
esv2672186 CNV Deletion 23128226
esv1025849 CNV Insertion 17803354
esv1090769 CNV Deletion 17803354
esv2724073 CNV Deletion 23290073
esv1004677 CNV Deletion 20482838
esv2724084 CNV Deletion 23290073
esv1389161 CNV Deletion 17803354
esv2724095 CNV Deletion 23290073
esv2724106 CNV Deletion 23290073
esv2724117 CNV Deletion 23290073
esv2724128 CNV Deletion 23290073
esv7871 CNV Loss 19470904
esv3257 CNV Deletion 18987735
esv2724140 CNV Deletion 23290073
esv2724151 CNV Deletion 23290073

Relevant External Links for ADCK3 Gene

HapMap Linkage Disequilibrium report
ADCK3
Human Gene Mutation Database (HGMD)
ADCK3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCK3 Gene

Disorders for ADCK3 Gene

(1) OMIM Diseases for ADCK3 Gene (606980)

UniProtKB/Swiss-Prot

ADCK3_HUMAN
  • Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]: An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. {ECO:0000269 PubMed:18319072, ECO:0000269 PubMed:18319074, ECO:0000269 PubMed:20580948, ECO:0000269 PubMed:22036850, ECO:0000269 PubMed:24048965, ECO:0000269 PubMed:24218524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with ADCK3: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for ADCK3 Gene

Publications for ADCK3 Gene

  1. Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex. (PMID: 11888884) Iiizumi M. … Nakamura Y. (Cancer Res. 2002) 3 4 23
  2. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (PMID: 18319072) Mollet J. … Roetig A. (Am. J. Hum. Genet. 2008) 3 4 23
  3. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. (PMID: 18319074) Lagier-Tourenne C. … Koenig M. (Am. J. Hum. Genet. 2008) 3 4 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for ADCK3 Gene

  • Addgene plasmids for ADCK3

Sources for ADCK3 Gene

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