Aliases for ADCK1 Gene

Aliases for ADCK1 Gene

  • AarF Domain Containing Kinase 1 2 3 5
  • AarF Domain-Containing Protein Kinase 1 3 4
  • EC 2.7.-.- 4
  • EC 2.7.11 52

External Ids for ADCK1 Gene

Previous GeneCards Identifiers for ADCK1 Gene

  • GC14P076256
  • GC14P077336
  • GC14P078266
  • GC14P058432

Summaries for ADCK1 Gene

GeneCards Summary for ADCK1 Gene

ADCK1 (AarF Domain Containing Kinase 1) is a Protein Coding gene. Diseases associated with ADCK1 include Coenzyme Q10 Deficiency, Primary, 4 and Coenzyme Q10 Deficiency Disease. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity. An important paralog of this gene is ADCK5.

UniProtKB/Swiss-Prot Summary for ADCK1 Gene

  • Appears to be essential for maintaining mitochondrial cristae formation and mitochondrial function by acting via YME1L1 in a kinase-independent manner to regulate essential mitochondrial structural proteins OPA1 and IMMT (PubMed:31125351). The action of this enzyme is not yet clear (Probable). It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) (Probable).

Additional gene information for ADCK1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADCK1 Gene

Genomics for ADCK1 Gene

GeneHancer (GH) Regulatory Elements for ADCK1 Gene

Promoters and enhancers for ADCK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J077799 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 506.7 +0.2 236 1.8 ZNF217 EP300 CTCF ZSCAN5C POLR2G USF1 PHF8 SIX5 ZFX ZIC2 ADCK1 C14orf178 RPL21P10 ENSG00000199440
GH14J077614 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.9 -184.0 -183964 3 ZBTB40 ZNF217 EP300 CTCF NRF1 POLR2G USF1 SP1 PHF8 FOS SPTLC2 SNW1 ADCK1 RPL22P2 VIPAS39 ALKBH1 ZMYND19P1 piR-43105-179
GH14J077862 Enhancer 0.8 Ensembl ENCODE 36.5 +62.2 62249 0.2 CTCF REST RAD21 ZBTB7A TRIM22 SMC3 ESRRA RELA NR3C1 ZNF592 ADCK1 lnc-SNW1-7 piR-52294-050
GH14J077914 Enhancer 1 Ensembl ENCODE 29.1 +113.8 113836 2.6 ZBTB11 AFF1 MYC NFRKB NCOR1 NEUROD1 ZNF316 ARNT TRIM28 MAX ADCK1 RPL21P10 piR-52294-050 lnc-SNW1-7
GH14J077663 Enhancer 0.8 FANTOM5 ENCODE 37.7 -136.4 -136362 0.9 CTBP1 ESRRA FOS CEBPB ZFHX2 STAT3 PKNOX1 RFX5 MNT EGR2 piR-40154-057 piR-52261-083 piR-49423-086 ADCK1 C14orf178 SLIRP SNW1 RPL21P10 lnc-SLIRP-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADCK1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADCK1

Top Transcription factor binding sites by QIAGEN in the ADCK1 gene promoter:
  • CUTL1
  • GATA-1
  • Gfi-1
  • N-Myc
  • POU2F1
  • POU2F1a
  • USF-1
  • USF-1:USF-2
  • USF1

Genomic Locations for ADCK1 Gene

Genomic Locations for ADCK1 Gene
chr14:77,800,065-77,935,014
(GRCh38/hg38)
Size:
134,950 bases
Orientation:
Plus strand
chr14:78,266,426-78,401,355
(GRCh37/hg19)
Size:
134,930 bases
Orientation:
Plus strand

Genomic View for ADCK1 Gene

Genes around ADCK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCK1 Gene

Proteins for ADCK1 Gene

  • Protein details for ADCK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TW2-ADCK1_HUMAN
    Recommended name:
    AarF domain-containing protein kinase 1
    Protein Accession:
    Q86TW2
    Secondary Accessions:
    • B3KUD5
    • Q6PD65
    • Q9UIE6

    Protein attributes for ADCK1 Gene

    Size:
    530 amino acids
    Molecular mass:
    60577 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD62620.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAD62620.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for ADCK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADCK1 Gene

Selected DME Specific Peptides for ADCK1 Gene

Q86TW2:
  • DGRTVAVK
  • NEGRNAE
  • QVIREDLGKEI
  • VPRQMLL
  • SSFLNMSRCC
  • NRGTFIKVGQHL

Post-translational modifications for ADCK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ADCK1 Gene

Gene Families for ADCK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for ADCK1 Gene

Blocks:
  • ABC1 protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ADCK1 Gene

GenScript: Design optimal peptide antigens:
  • Uncharacterized aarF domain-containing protein kinase 1 (ADCK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86TW2

UniProtKB/Swiss-Prot:

ADCK1_HUMAN :
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
genes like me logo Genes that share domains with ADCK1: view

Function for ADCK1 Gene

Molecular function for ADCK1 Gene

UniProtKB/Swiss-Prot Function:
Appears to be essential for maintaining mitochondrial cristae formation and mitochondrial function by acting via YME1L1 in a kinase-independent manner to regulate essential mitochondrial structural proteins OPA1 and IMMT (PubMed:31125351). The action of this enzyme is not yet clear (Probable). It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) (Probable).

Enzyme Numbers (IUBMB) for ADCK1 Gene

Phenotypes From GWAS Catalog for ADCK1 Gene

Gene Ontology (GO) - Molecular Function for ADCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ADCK1: view
genes like me logo Genes that share phenotypes with ADCK1: view

Animal Model Products

CRISPR Products

miRNA for ADCK1 Gene

miRTarBase miRNAs that target ADCK1

Clone Products

  • Addgene plasmids for ADCK1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADCK1 Gene

Localization for ADCK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCK1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADCK1 gene
Compartment Confidence
extracellular 3
mitochondrion 3
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ADCK1: view

Pathways & Interactions for ADCK1 Gene

PathCards logo

SuperPathways for ADCK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ADCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0010637 negative regulation of mitochondrial fusion IMP 31125351
GO:0016310 phosphorylation IEA --
GO:1903852 positive regulation of cristae formation IMP 31125351
genes like me logo Genes that share ontologies with ADCK1: view

No data available for Pathways by source and SIGNOR curated interactions for ADCK1 Gene

Drugs & Compounds for ADCK1 Gene

No Compound Related Data Available

Transcripts for ADCK1 Gene

mRNA/cDNA for ADCK1 Gene

8 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ADCK1

Alternative Splicing Database (ASD) splice patterns (SP) for ADCK1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: - -
SP5:
SP6:

Relevant External Links for ADCK1 Gene

GeneLoc Exon Structure for
ADCK1

Expression for ADCK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADCK1 Gene

Protein differential expression in normal tissues from HIPED for ADCK1 Gene

This gene is overexpressed in Breast (23.8) and Bone (19.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADCK1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADCK1

SOURCE GeneReport for Unigene cluster for ADCK1 Gene:

Hs.413208

Evidence on tissue expression from TISSUES for ADCK1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with ADCK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADCK1 Gene

Orthologs for ADCK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADCK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADCK1 31 30
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADCK1 31 30
  • 90.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADCK1 31 30
  • 87.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adck1 17 31 30
  • 85.7 (n)
rat
(Rattus norvegicus)
Mammalia Adck1 30
  • 83.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 79 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ADCK1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADCK1 31 30
  • 75.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCK1 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adck1 30
  • 63.33 (n)
zebrafish
(Danio rerio)
Actinopterygii adck1 31 30
  • 68.84 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012287 30
  • 57.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3608 31 30
  • 54.96 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_D2023.6 30
  • 49.6 (n)
D2023.6 31
  • 44 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR119C 30
  • 46.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YLR253W 30
  • 46.52 (n)
-- 31
  • 28 (a)
OneToMany
MCP2 33
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22946g 30
  • 43.38 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATH9 30
  • 47.89 (n)
rice
(Oryza sativa)
Liliopsida Os03g0698350 30
  • 50.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5733 31
  • 51 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04259 30
  • 48.36 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC15C4.02 30
  • 45.31 (n)
Species where no ortholog for ADCK1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADCK1 Gene

ENSEMBL:
Gene Tree for ADCK1 (if available)
TreeFam:
Gene Tree for ADCK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADCK1: view image

Paralogs for ADCK1 Gene

Variants for ADCK1 Gene

Additional dbSNP identifiers (rs#s) for ADCK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADCK1 Gene

Variant ID Type Subtype PubMed ID
dgv3782n54 CNV loss 21841781
dgv3783n54 CNV loss 21841781
dgv3784n54 CNV loss 21841781
dgv3785n54 CNV loss 21841781
dgv3786n54 CNV loss 21841781
dgv410e214 CNV loss 21293372
esv24205 CNV loss 19812545
esv2677599 CNV deletion 23128226
esv2748906 CNV deletion 23290073
esv2759999 CNV loss 17122850
esv34345 CNV loss 17911159
esv3551816 CNV deletion 23714750
esv3581318 CNV loss 25503493
esv3635015 CNV loss 21293372
esv3635016 CNV loss 21293372
esv3635017 CNV loss 21293372
esv3635020 CNV gain 21293372
esv3635021 CNV loss 21293372
esv3635022 CNV gain 21293372
nsv1116037 CNV deletion 24896259
nsv1363 CNV insertion 18451855
nsv456345 CNV loss 19166990
nsv472932 CNV novel sequence insertion 20440878
nsv515961 CNV loss 19592680
nsv565223 CNV gain+loss 21841781
nsv565233 CNV loss 21841781
nsv565234 CNV loss 21841781
nsv827001 CNV loss 20364138

Variation tolerance for ADCK1 Gene

Residual Variation Intolerance Score: 33.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.27; 40.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADCK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADCK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADCK1 Gene

Disorders for ADCK1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ADCK1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
coenzyme q10 deficiency, primary, 4
  • coq10d4
coenzyme q10 deficiency disease
  • coenzyme q10 deficiency, primary
visual cortex disease
  • visual cortex dysfunction
visual pathway disease
  • disorder of visual pathways
uterine body mixed cancer
  • malignant mixed tumor of corpus uteri
- elite association - COSMIC cancer census association via MalaCards
Search ADCK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ADCK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADCK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADCK1 Gene

Publications for ADCK1 Gene

  1. Drosophila ADCK1 is critical for maintaining mitochondrial structures and functions in the muscle. (PMID: 31125351) Yoon W … Chung J (PLoS genetics 2019) 3 4 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. The protein kinase complement of the human genome. (PMID: 12471243) Manning G … Sudarsanam S (Science (New York, N.Y.) 2002) 2 3 54

Products for ADCK1 Gene

  • Boster Bio Antibodies for ADCK1
  • Boster Bio ELISA Kits for ADCK1

Sources for ADCK1 Gene