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    COQ8A coenzyme Q8A [ Homo sapiens (human) ]

    Gene ID: 56997, updated on 3-Nov-2024

    Summary

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    Official Symbol
    COQ8Aprovided by HGNC
    Official Full Name
    coenzyme Q8Aprovided by HGNC
    Primary source
    HGNC:HGNC:16812
    See related
    Ensembl:ENSG00000163050 MIM:606980; AllianceGenome:HGNC:16812
    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; ADCK3; ARCA2; CABC1; SCAR9; COQ10D4
    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]
    Expression
    Ubiquitous expression in fat (RPKM 53.1), adrenal (RPKM 33.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COQ8A in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (226940294..226987544)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (226128212..226175909)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227127995..227175245)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1893 Neighboring gene MPRA-validated peak736 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2673 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227083595-227083826 Neighboring gene uncharacterized LOC107985354 Neighboring gene presenilin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:227126665-227127356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227138969-227139468 Neighboring gene MPRA-validated peak738 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227161529-227162142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227166346-227167094 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227172247-227172425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2676 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:227180293-227181492 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227182370-227182516 Neighboring gene CDC42 binding protein kinase alpha Neighboring gene NANOG hESC enhancer GRCh37_chr1:227259898-227260481 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227309525-227309674 Neighboring gene MPRA-validated peak741 silencer Neighboring gene cathepsin B pseudogene Neighboring gene UBA5 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex. Iiizumi M, et al. Cancer Res, 2002 Mar 1. PMID 11888884
    2. Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature. Shalata A, et al. Neurochem Res, 2019 Oct. PMID 30968303
    3. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Lagier-Tourenne C, et al. Am J Hum Genet, 2008 Mar. PMID 18319074, Free PMC Article
    4. Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. Traschütz A, et al. Ann Neurol, 2020 Aug. PMID 32337771, Free PMC Article
    5. Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review. Uccella S, et al. Epileptic Disord, 2021 Feb 1. PMID 33622667

    See all (80) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.
      Title: Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.
    2. Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
      Title: Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
    3. expand the clinical, molecular and biochemical spectrum of ADCK3 related CoQ10 deficiencies
      Title: Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
    4. Loss of COQ8a results in cerebellar ataxia and coenzyme Q deficiency.
      Title: Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.
    5. ADCK3/COQ8 localises to mitochondrial cristae and is targeted to this organelle via the presence of an N-terminal localisation signal
      Title: AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation.
    6. work reveals Mg(2+)-dependent ATPase activity of ADCK3, providing strong support for the theoretical prediction of this protein being a functional atypical kinase.
      Title: Preparation and characterization of human ADCK3, a putative atypical kinase.
    7. a structural foundation for investigating the role of transmembrane association in regulating the biological activity of ADCK3
      Title: A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3.
    8. Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
      Title: Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
    9. 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.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquinone biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquinone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquinone biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    atypical kinase COQ8A, mitochondrial
    Names
    aarF domain-containing protein kinase 3
    atypical kinase ADCK3, mitochondrial
    chaperone activity of bc1 complex-like, mitochondrial
    chaperone, ABC1 activity of bc1 complex homolog
    coenzyme Q protein 8A
    coenzyme Q8 homolog

    NCBI Reference Sequences (RefSeq)

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    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_012825.2 RefSeqGene

      Range
      47759..95009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1092

    mRNA and Protein(s)

    1. NM_020247.5 → NP_064632.2  atypical kinase COQ8A, mitochondrial

      See identical proteins and their annotated locations for NP_064632.2

      Status: REVIEWED

      Source sequence(s)
      AI888739, AK074693, AL353689, BC005171
      Consensus CDS
      CCDS1557.1
      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Related
      ENSP00000355739.3, ENST00000366777.4
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      226940294..226987544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425745.1 → XP_047281701.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    2. XM_047425732.1 → XP_047281688.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    3. XM_024448517.2 → XP_024304285.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    4. XM_047425739.1 → XP_047281695.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    5. XM_011544239.3 → XP_011542541.1  atypical kinase COQ8A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011542541.1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    6. XM_024448518.2 → XP_024304286.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    7. XM_047425749.1 → XP_047281705.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    8. XM_011544238.2 → XP_011542540.1  atypical kinase COQ8A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011542540.1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    9. XM_005273201.2 → XP_005273258.1  atypical kinase COQ8A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005273258.1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      226128212..226175909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337774.1 → XP_054193749.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    2. XM_054337769.1 → XP_054193744.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    3. XM_054337775.1 → XP_054193750.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    4. XM_054337770.1 → XP_054193745.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    5. XM_054337768.1 → XP_054193743.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    6. XM_054337771.1 → XP_054193746.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    7. XM_054337776.1 → XP_054193751.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    8. XM_054337772.1 → XP_054193747.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67

    9. XM_054337773.1 → XP_054193748.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NI60.1 GenPept UniProtKB/Swiss-Prot:Q8NI60

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