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COQ8A coenzyme Q8A [ Homo sapiens (human) ]

Gene ID: 56997, updated on 7-Apr-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
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Genomic context

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Location:
1q42.13
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (226940294..226987544)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (226128212..226175909)
105.20220307 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
  • 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. Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review. Uccella S, et al. Epileptic Disord, 2021 Feb 1. PMID 33622667
  2. 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
  3. 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
  4. Preparation and characterization of human ADCK3, a putative atypical kinase. Wheeler B, et al. Protein Expr Purif, 2015 Apr. PMID 25540914
  5. A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3. Khadria AS, et al. J Am Chem Soc, 2014 Oct 8. PMID 25216398, Free PMC Article

See all (70) 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 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_2023_10

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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