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    ADCK3 aarF domain containing kinase 3 [ Homo sapiens ]

    Gene ID: 56997, updated on 11-May-2012
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    Summary

    Official Symbol
    ADCK3provided by HGNC
    Official Full Name
    aarF domain containing kinase 3provided by HGNC
    Primary source
    HGNC:16812
    Locus tag
    PP265
    See related
    Ensembl:ENSG00000163050; HPRD:07375; MIM:606980; Vega:OTTHUMG00000037621
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COQ8; ARCA2; CABC1; SCAR9; MGC4849
    Summary
    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]
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    Genomic context

    Location :
    1q42.13
    Sequence :
    Chromosome: 1; NC_000001.10 (227127938..227175246)
    See ADCK3 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S27 pseudogene 5 Neighboring gene presenilin 2 (Alzheimer disease 4) Neighboring gene CDC42 binding protein kinase alpha (DMPK-like) Neighboring gene cathepsin B pseudogene Neighboring gene ubiquitin-like modifier activating enzyme 5 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. Horvath R, et al. J Neurol Neurosurg Psychiatry, 2012 Feb. PMID 22036850.
    2. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. Li S, et al. Immunity, 2011 Sep 23. PMID 21903422.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants. Xie LX, et al. Biochim Biophys Acta, 2011 May. PMID 21296186.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (17) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. These observations highlight the importance of screening for a potentially treatable cause, CABC1/ADCK3 mutations
      Title: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ10 deficiency in muscle.
      Title: ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
    4. CABC1 gene mutations in four ubiquinone-deficient patients in three distinct families were reported.
      Title: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
    5. play an important role in mediating p53-inducible apoptosis through the mitochondrial pathway.
      Title: Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.
    Submit: New GeneRIF Correction
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Coenzyme Q10 deficiency

    Spinocerebellar ataxia, autosomal recessive 9

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q8NI60 Q9UI14 RABAC1    HPRD  PubMed  
    BioGRID:121312 BioGRID:33132 COQ8    BioGRID  PubMed Dosage Rescue 
    BioGRID:121312 BioGRID:109622 ICT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121312 BioGRID:109863 IRAK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121312 BioGRID:109865 IRAK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121312 BioGRID:115818 RABAC1    BioGRID  PubMed Two-hybrid 
    BioGRID:121312 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transferase activity, transferring phosphorus-containing groups IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    chaperone activity of bc1 complex-like, mitochondrial
    Names
    chaperone activity of bc1 complex-like, mitochondrial
    coenzyme Q8 homolog
    aarF domain-containing protein kinase 3
    chaperone, ABC1 activity of bc1 complex homolog
    NP_064632.2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012825.1 RefSeqGene

      Range
      5001..52309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020247.4 → NP_064632.2  chaperone activity of bc1 complex-like, mitochondrial

      Status: REVIEWED

      Source sequence(s)
      AI888739, AK074693, AL353689, BC005171, DA925261
      Consensus CDS
      CCDS1557.1
      UniProtKB/Swiss-Prot
      Q8NI60
      Related
      ENSP00000355739, OTTHUMP00000035734, ENST00000366777, OTTHUMT00000091709
      Conserved Domains (2) summary
      COG0661
      Location:255 – 635
      Blast Score: 650
      AarF; Predicted unusual protein kinase [General function prediction only]
      cl09925
      Location:318 – 434
      Blast Score: 338
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      227127938..227175246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      197644481..197691835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL353689.26 CAI19103.1
      CAI19104.1
      CAI19105.1
      CAI19106.1
    genomic CH471098.1 EAW69801.1
      EAW69802.1
      EAW69803.1
      EAW69804.1
      EAW69805.1
    mRNA AB073905.1 BAB91363.1
    mRNA AF218003.1 AAG17245.1
    mRNA AI888739.1 None
    mRNA AJ278126.1 CAC00482.1
    mRNA AK074693.1 BAC11143.1
    mRNA AK090494.1 BAG52171.1
    mRNA AK092784.1 None
    mRNA AK126200.1 None
    mRNA AK293571.1 BAG57042.1
    mRNA AK297735.1 BAG60085.1
    mRNA AK300537.1 BAG62245.1
    mRNA AK301012.1 BAG62629.1
    mRNA AL137511.1 None
    mRNA BC005171.2 AAH05171.2
    mRNA BC129930.1 AAI29931.1
    mRNA BX648860.1 CAH56132.1
    mRNA DA925261.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T7A2 GenPept UniProtKB/TrEMBL:Q5T7A2
    Q5T7A4 GenPept UniProtKB/TrEMBL:Q5T7A4
    Q8NI60.1 GenPept UniProtKB/Swiss-Prot:Q8NI60
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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