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Aliases for ADCK3 Gene

Aliases for ADCK3 Gene

  • AarF Domain Containing Kinase 3 2 3 5
  • AarF Domain-Containing Protein Kinase 3 3 4
  • CABC1 3 4
  • 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
  • Coenzyme Q8 Homolog (Yeast) 2
  • Coenzyme Q8 Homolog 3
  • Chaperone-ABC1-Like 4
  • EC 2.7.-.- 4
  • EC 2.7.11 63
  • COQ10D4 3
  • ARCA2 3
  • SCAR9 3
  • COQ8 3

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 spinocerebellar ataxia 9. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and 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

Genomic Location for ADCK3 Gene

Chromosome:
1
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

Genes around ADCK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 246, Lys 295, Lys 310, Lys 314, Lys 327, and Lys 642
  • Modification sites at PhosphoSitePlus

Other Protein References for ADCK3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families 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 :
  • 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.
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
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:0005515 protein binding IPI 16189514
GO:0043531 ADP binding IDA 25498144
genes like me logo Genes that share ontologies with ADCK3: view
genes like me logo Genes that share phenotypes with ADCK3: view

Human Phenotype Ontology for ADCK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ADCK3 Gene

miRTarBase miRNAs that target ADCK3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADCK3 Gene COMPARTMENTS Subcellular localization image for ADCK3 gene
Compartment Confidence
mitochondrion 5
cytosol 1
extracellular 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for ADCK3 Gene

Pathways & Interactions for ADCK3 Gene

SuperPathways for ADCK3 Gene

No Data Available

UniProtKB/Swiss-Prot Q8NI60-ADCK3_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for ADCK3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ADCK3 Gene

Drugs & Compounds for ADCK3 Gene

No Compound Related Data Available

Transcripts for ADCK3 Gene

Unigene Clusters for ADCK3 Gene

AarF domain containing kinase 3:
Representative Sequences:

Inhibitory RNA 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 differential expression in normal tissues according to GTEx for ADCK3 Gene

This gene is overexpressed in Muscle - Skeletal (x16.7).

Protein differential expression in normal tissues from HIPED for ADCK3 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, 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 expression patterns with ADCK3: view

Protein tissue co-expression partners for ADCK3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ADCK3 Gene

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
chimpanzee
(Pan troglodytes)
Mammalia ADCK3 36
  • 100 (a)
OneToOne
ADCK3 35
  • 98.89 (n)
  • 98.82 (a)
cow
(Bos Taurus)
Mammalia ADCK3 35
  • 87.02 (n)
  • 87.48 (a)
ADCK3 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADCK3 36
  • 84 (a)
OneToOne
ADCK3 35
  • 81.69 (n)
  • 80.73 (a)
mouse
(Mus musculus)
Mammalia Adck3 36
  • 87 (a)
OneToOne
Adck3 16
Adck3 35
  • 84.04 (n)
  • 87.68 (a)
oppossum
(Monodelphis domestica)
Mammalia ADCK3 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADCK3 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adck3 35
  • 84.96 (n)
  • 87.6 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.23747 35
tropical clawed frog
(Silurana tropicalis)
Amphibia adck3 35
  • 68.94 (n)
  • 70.36 (a)
Str.6968 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 36
  • 33 (a)
OneToMany
coq-8 35
  • 52.28 (n)
  • 53.2 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR181W 35
  • 50.42 (n)
  • 43.19 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ8 35
  • 45.02 (n)
  • 41.72 (a)
COQ8 36
  • 39 (a)
OneToMany
COQ8 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B00539g 35
  • 47.3 (n)
  • 43.02 (a)
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

(2) 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
rs2297411 - 226,965,077(+) CCGCA(G/T)GCAGC reference, missense
VAR_044402 Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
VAR_044403 Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
VAR_044404 Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
VAR_044405 Coenzyme Q10 deficiency, primary, 4 (COQ10D4)

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

Variation tolerance for ADCK3 Gene

Residual Variation Intolerance Score: 71.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.64% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(13) MalaCards diseases for ADCK3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coenzyme q10 deficiency, primary, 4
  • autosomal recessive spinocerebellar ataxia 9
spinocerebellar ataxia 9
  • sca9
adck3-related coenzyme q10 deficiency
  • coenzyme q10 deficiency, primary, 4
lichtenstein-knorr syndrome
  • autosomal recessive spinocerebellar ataxia 19
encephalopathy, progressive, with or without lipodystrophy
  • peld
- elite association - COSMIC cancer census association via MalaCards
Search ADCK3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ADCK3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADCK3
genes like me logo Genes that share disorders with ADCK3: view

No data available for Genatlas for ADCK3 Gene

Publications for ADCK3 Gene

  1. 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 67
  2. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (PMID: 18319072) Mollet J. … Roetig A. (Am. J. Hum. Genet. 2008) 3 23
  3. 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 23
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. (PMID: 25498144) Stefely J.A. … Pagliarini D.J. (Mol. Cell 2015) 3

Products for ADCK3 Gene

Sources for ADCK3 Gene

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