Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ADCK3 Gene

protein-coding   GIFtS: 56
GCID: GC01P227087

AarF Domain Containing Kinase 3

(Previous names: chaperone-ABC1 (activity of bc1 complex, S.pombe)-like,...)
(Previous symbol: CABC1)
  See ADCK3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
AarF Domain Containing Kinase 31 2     Chaperone-ABC1 (Activity Of Bc1 Complex, S.Pombe)-Like1
CABC11 2 3 5     Coenzyme Q8 Homolog (Yeast)1
AarF Domain-Containing Protein Kinase 32 3     Chaperone Activity Of Bc1 Complex-Like, Mitochondrial2
ARCA22 5     Chaperone, ABC1 Activity Of Bc1 Complex Homolog2
COQ10D42 5     Coenzyme Q8 Homolog2
COQ82 5     Chaperone-ABC1-like3
SCAR92 5     EC 2.7.11.-3
Chaperone, ABC1 Activity Of Bc1 Complex Homolog (S. Pombe)1     EC 2.7.118
Chaperone, ABC1 Activity Of Bc1 Complex Like (S. Pombe)1     

External Ids:    HGNC: 168121   Entrez Gene: 569972   Ensembl: ENSG000001630507   OMIM: 6069805   UniProtKB: Q8NI603   

Export aliases for ADCK3 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 spinocerebellar ataxia, autosomal recessive, 9, 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: ADCK3_HUMAN, Q8NI60
Function: Putative protein kinase involved in the biosynthesis of coenzyme Q since it is able to rescue partially
coenzyme Q6 biosynthesis of yeast COQ8 mutants. May be a chaperone-like protein essential for the proper
conformation and functioning of protein complexes in the respiratory chain

Gene Wiki entry for ADCK3 (CABC1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_167186.2  NC_018912.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ADCK3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADCK3 promoter sequence
   Search Chromatin IP Primers for ADCK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADCK3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42.13   Ensembl cytogenetic band:  1q42.13   HGNC cytogenetic band: 1q42.11

ADCK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADCK3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P227087:  view genomic region     (about GC identifiers)

Start:
227,085,237 bp from pter      End:
227,175,246 bp from pter
Size:
90,010 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ADCK3_HUMAN, Q8NI60 (See protein sequence)
Recommended Name: Chaperone activity of bc1 complex-like, mitochondrial precursor  
Size: 647 amino acids; 71950 Da
Caution: It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser,
Thr or Tyr)
Secondary accessions: Q5T7A5 Q63HK0 Q8NCJ6 Q9HBQ1 Q9NQ67
Alternative splicing: 4 isoforms:  Q8NI60-1   Q8NI60-2   Q8NI60-3   Q8NI60-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADCK3: NX_Q8NI60

Explore proteomics data for ADCK3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys246, Lys295, Lys310, Lys314, Lys327, Lys642
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ADCK3 (Q8NI60)
     PPPEETY  AAASIGQVH 


    See ADCK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064632.2  
    ENSEMBL proteins: 
     ENSP00000355741   ENSP00000355740   ENSP00000355739   ENSP00000403704   ENSP00000404550  

    ADCK3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ADCK3
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ADCK3
    GenScript Custom Purified and Recombinant Proteins Services for ADCK3
    Novus Biologicals ADCK3 Proteins
    Novus Biologicals ADCK3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ADCK3

     
    Search eBioscience for Proteins for ADCK3 

     
    antibodies-online proteins for ADCK3 (4 products) 

     
    antibodies-online peptides for ADCK3

    ADCK3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ADCK3
    OriGene Custom Antibody Services for ADCK3
    Novus Biologicals ADCK3 Antibodies
    Search for Antibodies for ADCK3 at Abcam
    Cloud-Clone Corp. Antibodies for ADCK3
    ThermoFisher Antibody for ADCK3
    antibodies-online antibodies for ADCK3 (63 products) 

    ADCK3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ADCK3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ADCK3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ADCK3
    Cloud-Clone Corp. CLIAs for ADCK3
    Search eBioscience for ELISAs for ADCK3 
    Search antibodies-online for kits for ADCK3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    IUPHAR Guide to PHARMACOLOGY protein family classification: aarF domain containing kinase 3
    ABC1-B subfamily

    2 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR004147 UbiB_dom

    Graphical View of Domain Structure for InterPro Entry Q8NI60

    ProtoNet protein and cluster: Q8NI60

    1 Blocks protein domain: IPB004147 ABC1 protein

    UniProtKB/Swiss-Prot: ADCK3_HUMAN, Q8NI60
    Similarity: Belongs to the protein kinase superfamily. ADCK protein kinase family
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with ADCK3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADCK3_HUMAN, Q8NI60
    Function: Putative protein kinase involved in the biosynthesis of coenzyme Q since it is able to rescue partially
    coenzyme Q6 biosynthesis of yeast COQ8 mutants. May be a chaperone-like protein essential for the proper
    conformation and functioning of protein complexes in the respiratory chain
    Induction: By p53/TP53

         Enzyme Numbers (IUBMB): EC 2.7.112 EC 2.7.11.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    Find genes that share ontologies with ADCK3           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for ADCK3:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased G1 DNA content  Increased HPV18 LCR reporter a 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ADCK3

    miRNA
    Products:
        
    miRTarBase miRNAs that target ADCK3:
    hsa-mir-484 (MIRT042224)

    Block miRNA regulation of human, mouse, rat ADCK3 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ADCK3:
    hsa-miR-3143 hsa-miR-3148 hsa-miR-543
    SwitchGear 3'UTR luciferase reporter plasmidADCK3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ADCK3
    Predesigned siRNA for gene silencing in human, mouse, rat ADCK3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ADCK3

    Clone
    Products:
         
    OriGene clones in human, mouse for ADCK3 (see all 8)
    OriGene ORF clones in mouse, rat for ADCK3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ADCK3 (NM_020247)
    Sino Biological Human cDNA Clone for ADCK3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADCK3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADCK3
    Addgene plasmids for ADCK3 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ADCK3
    Browse ESI BIO Cell Lines and PureStem Progenitors for ADCK3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCK3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ADCK3_HUMAN, Q8NI60: Mitochondrion

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with ADCK3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Pathway & Disease-focused RT2 Profiler PCR Array including ADCK3: 
              Heat Shock Proteins & Chaperones in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ADCK3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for ADCK3 (Q8NI602, 3 ENSP000003557394) via UniProtKB, MINT, STRING, and/or I2D (see all 277)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RABAC1Q9UI142, 3, ENSP000002220084MINT-66678 I2D: score=5 STRING: ENSP00000222008
    SARS2Q9NP812, 3MINT-8079030 I2D: score=1 
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    COQ5Q5HYK33, ENSP000002885324I2D: score=1 STRING: ENSP00000288532
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=1 STRING: ENSP00000364847
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006744ubiquinone biosynthetic process IEA--
    GO:0008219cell death IEA--

    Find genes that share ontologies with ADCK3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADCK3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ADCK3 gene: 
    NM_020247.4  

    Unigene Cluster for ADCK3:

    AarF domain containing kinase 3
    Hs.118241  [show with all ESTs]
    Unigene Representative Sequence: NM_020247
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366779(uc001hql.1 uc001hqm.1) ENST00000485677 ENST00000366778(uc009xeq.1 uc010pvq.1)
    ENST00000366777(uc010pvp.1 uc001hqn.1) ENST00000478406(uc009xer.1)
    ENST00000489044 ENST00000476488 ENST00000485462(uc001hqo.1) ENST00000479852
    ENST00000464693 ENST00000458507 ENST00000433743
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ADCK3 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ADCK3:
    hsa-miR-3143 hsa-miR-3148 hsa-miR-543
    SwitchGear 3'UTR luciferase reporter plasmidADCK3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ADCK3
    Predesigned siRNA for gene silencing in human, mouse, rat ADCK3
    Clone
    Products:
         
    OriGene clones in human, mouse for ADCK3 (see all 8)
    OriGene ORF clones in mouse, rat for ADCK3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ADCK3 (NM_020247)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADCK3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADCK3
    Addgene plasmids for ADCK3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ADCK3
    OriGene qSTAR qPCR primer pairs in human, mouse for ADCK3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADCK3
      QuantiTect SYBR Green Assays in human, mouse, rat ADCK3
      QuantiFast Probe-based Assays in human, mouse, rat ADCK3

    Additional mRNA sequence: 

    AB073905.1 AJ278126.1 AK074693.1 AK293571.1 AK297735.1 AK300537.1 AK301012.1 AL137511.1 
    BC005171.2 BC129930.1 BX648860.1 

    19 DOTS entries:

    DT.100766408  DT.95292336  DT.95292328  DT.97810231  DT.101983834  DT.100777220  DT.95252234  DT.455359 
    DT.97822143  DT.92049843  DT.97788388  DT.121427887  DT.91850211  DT.95292312  DT.100731394  DT.121427792 
    DT.121427917  DT.121427929  DT.121427788 

    Selected AceView cDNA sequences (see all 273):

    CA944616 BF724826 NM_020247 BU856572 AA377518 AI382373 BE503996 BC005171 
    BQ067514 AW271480 AW964156 AI884923 F36329 CD672367 CA310894 AI332475 
    AI278766 CA942158 AW297775 AI819411 AK090494 BF724827 BF195533 AK092784 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ADCK3 (see all 14)    About this scheme

    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:                          -     -     -     -     -     -     -     -     -     -     -     -     -                 -     -                                 

    ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for ADCK3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ADCK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAAGTGAAA
    ADCK3 Expression
    About this image


    ADCK3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ADCK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADCK3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.118241

    UniProtKB/Swiss-Prot: ADCK3_HUMAN, Q8NI60
    Tissue specificity: Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa,
    stomach, uterus and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including ADCK3: 
              Heat Shock Proteins & Chaperones in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ADCK3
    OriGene qSTAR qPCR primer pairs in human, mouse for ADCK3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADCK3
    QuantiTect SYBR Green Assays in human, mouse, rat ADCK3
    QuantiFast Probe-based Assays in human, mouse, rat ADCK3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCK3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

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

    Orthologs for ADCK3 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adck31 , 5 aarF domain containing kinase 31, 5 84.04(n)1
    87.68(a)1
      1 (84.15 cM)5
    674261  NM_023341.31  NP_075830.21 
     1801652385 
    chicken
    (Gallus gallus)
    Aves ADCK31 aarF domain containing kinase 3 72.25(n)
    76.08(a)
      416745  NM_001199413.1  NP_001186342.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADCK36
    aarF domain containing kinase 3
    66(a)
    1 ↔ 1
    1(250954945-251002263)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.237472 Xenopus laevis transcribed sequence with weak similarity more 77.93(n)    CB201460.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.114732 Transcribed sequence with weak similarity to protein more 74.81(n)    CF998988.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG326496
    --
    39(a)
    1 → many
    X(12792801-12795147)
    worm
    (Caenorhabditis elegans)
    Secernentea coq-81 coq-8 52.28(n)
    53.2(a)
      175647  NM_065613.7  NP_498014.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ8(YGL119W)4
    COQ81
    Protein required for ubiquinone (coenzyme Q) biosynthesis more4
    COQ81
    45.02(n)1
    41.72(a)1
      7(284442-285947)4
    8527581, 4  NP_011396.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ADCK3 gene
    ADCK42  
    2 SIMAP similar genes for ADCK3 using alignment to 2 protein entries:     ADCK3_HUMAN (see all proteins):
    CABC1    ADCK4

    Find genes that share paralogs with ADCK3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ADCK3 (see all 1317)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0444044
    Coenzyme Q10 deficiency, primary, 4 (COQ10D4)4--see VAR_0444042 G V mis40--------
    VAR_0444054
    Coenzyme Q10 deficiency, primary, 4 (COQ10D4)4--see VAR_0444052 Y C mis40--------
    VAR_0444074
    Coenzyme Q10 deficiency, primary, 4 (COQ10D4)4--see VAR_0444072 E K mis40--------
    VAR_0444024
    Coenzyme Q10 deficiency, primary, 4 (COQ10D4)4--see VAR_0444022 R W mis40--------
    VAR_0444064
    Coenzyme Q10 deficiency, primary, 4 (COQ10D4)4--see VAR_0444062 G S mis40--------
    VAR_0444034
    Coenzyme Q10 deficiency, primary, 4 (COQ10D4)4--see VAR_0444032 G D mis40--------
    rs1194680061,2
    Cpathogenic1227169812(+) GCGTGA/G/TTGCGG 3 D G V mis10--------
    rs1194680091,2
    Cpathogenic1227173027(+) TCACCG/AGCTAC 2 /S /G mis11Minor allele frequency- A:0.00NA 4552
    rs1444722481,2
    --227125990(+) CTCCTA/GTGTGG 1 -- us2k10--------
    rs75131201,2
    C,F,H--227125997(+) GTGGAA/GAAAGG 1 -- us2k1 trp327Minor allele frequency- G:0.45NA NS EA WA CSA 2495

    HapMap Linkage Disequilibrium report for ADCK3 (227085237 - 227175246 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADCK3 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3257CNV Deletion18987735
    esv2724140CNV Deletion23290073
    esv2724073CNV Deletion23290073
    esv2672186CNV Deletion23128226
    esv2724151CNV Deletion23290073
    esv1004677CNV Deletion20482838
    esv2724128CNV Deletion23290073
    esv1389161CNV Deletion17803354
    esv1090769CNV Deletion17803354
    esv2724051CNV Deletion23290073

    Human Gene Mutation Database (HGMD): ADCK3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADCK3
    DNA2.0 Custom Variant and Variant Library Synthesis for ADCK3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 606980   
    OMIM disorders: 612016  
    UniProtKB/Swiss-Prot: ADCK3_HUMAN, Q8NI60
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 3 diseases for ADCK3:    
    About MalaCards
    spinocerebellar ataxia, autosomal recessive, 9    cabc1-related coenzyme q10 deficiency    coenzyme q10 deficiency, primary, 4


    Find genes that share disorders with ADCK3           About GenesLikeMe


    Export disorders for ADCK3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for ADCK3 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with ADCK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. (PubMed id 18319074)1, 2, 9 Lagier-Tourenne C.... Koenig M. (Am. J. Hum. Genet. 2008)
    2. Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex. (PubMed id 11888884)1, 2, 9 Iiizumi M.... Nakamura Y. (Cancer Res. 2002)
    3. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (PubMed id 18319072)1, 2, 9 Mollet J.... Roetig A. (Am. J. Hum. Genet. 2008)
    4. Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants. (PubMed id 21296186)1, 2 Xie L.X....Clarke C.F. (Biochim. Biophys. Acta 2011)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    10. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. (PubMed id 24270420)2 Ashraf S....Hildebrandt F. (J. Clin. Invest. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 56997 HGNC: 16812 AceView: CABC1 Ensembl:ENSG00000163050 euGenes: HUgn56997
    ECgene: ADCK3 H-InvDB: ADCK3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ADCK3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ADCK3 gene:
    Search GeneIP for patents involving ADCK3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ADCK3   OriGene RNAi products in human, mouse, rat for ADCK3  
     OriGene qPCR primer pairs and template standards for ADCK3   OriGene Protein Over-expression Lysate for ADCK3  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ADCK3  
     OriGene qSTAR qPCR primer pairs in human, mouse for ADCK3   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ADCK3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ADCK3   OriGene Custom Protein Services for ADCK3  

     
     
     Block miRNA regulation of human, mouse, rat ADCK3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ADCK3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADCK3 Predesigned siRNA for gene silencing in human, mouse, rat ADCK3
     QuantiFast Probe-based Assays in human, mouse, rat ADCK3 QuantiTect SYBR Green Assays in human, mouse, rat ADCK3
     PCR Arrays including human, mouse, rat ADCK3 Search Chromatin IP Primers for ADCK3
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADCK3  Search GeneGlobe Interaction Network for ADCK3
     Search Regulatory tfbs for ADCK3
     GenScript Custom Purified and Recombinant Proteins Services for ADCK3 GenScript cDNA clones with any tag delivered in your preferred vector for ADCK3
     GenScript Custom Assay Services for ADCK3 GenScript Custom overexpressing Cell Line Services for ADCK3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ADCK3
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ADCK3
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ADCK3 antibodies
     ADCK3 proteins
     ADCK3 lysates
     Search for Antibodies for ADCK3 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for ADCK3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ADCK3
     Antibodies for ADCK3
     ELISAs for ADCK3
     CLIAs for ADCK3



     Browse ESI BIO Cell Lines and PureStem Progenitors for ADCK3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCK3
     SwitchGear 3'UTR luciferase reporter plasmids for ADCK3
     SwitchGear Promoter luciferase reporter plasmids for ADCK3
     ThermoFisher Antibody for ADCK3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADCK3
     Browse compounds at ApexBio
     Addgene plasmids for ADCK3
      Search eBioscience for proteins for ADCK3
      Search eBioscience for elisas for ADCK3
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for ADCK3
     antibodies-online antibodies for ADCK3 (63 products)
      Search antibodies-online for kits for ADCK3
     antibodies-online peptides for ADCK3
     antibodies-online proteins for ADCK3 (4 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ADCK3 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4