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    Coq8a coenzyme Q8A [ Mus musculus (house mouse) ]

    Gene ID: 67426, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Coq8aprovided by MGI
    Official Full Name
    coenzyme Q8Aprovided by MGI
    Primary source
    MGI:MGI:1914676
    See related
    Ensembl:ENSMUSG00000026489 AllianceGenome:MGI:1914676
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Adck3; Cabc1; mKIAA0451; 4632432J16Rik
    Summary
    Predicted to enable ADP binding activity and kinase activity. Predicted to be involved in phosphorylation and ubiquinone biosynthetic process. Located in mitochondrion. Used to study primary coenzyme Q10 deficiency 4. Human ortholog(s) of this gene implicated in primary coenzyme Q10 deficiency 4. Orthologous to human COQ8A (coenzyme Q8A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in heart adult (RPKM 105.5), liver adult (RPKM 98.7) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    1 H4; 1 84.15 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (179992803..180023585, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (180165238..180196020, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene CDC42 binding protein kinase alpha Neighboring gene predicted gene, 50608 Neighboring gene predicted gene, 38331 Neighboring gene STARR-positive B cell enhancer mm9_chr1:182105294-182105595 Neighboring gene STARR-positive B cell enhancer ABC_E2024 Neighboring gene STARR-positive B cell enhancer ABC_E1237 Neighboring gene STARR-seq mESC enhancer starr_03189 Neighboring gene predicted gene, 57491 Neighboring gene predicted gene, 37336

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity. Stefely JA, et al. Mol Cell, 2016 Aug 18. PMID 27499294, Free PMC Article
    2. The SRCAP chromatin remodeling complex promotes oxidative metabolism during prenatal heart development. Xu M, et al. Development, 2021 Apr 15. PMID 33913477
    3. Single-cell RNA-Seq reveals a highly coordinated transcriptional program in mouse germ cells during primordial follicle formation. He Y, et al. Aging Cell, 2021 Jul. PMID 34174788, Free PMC Article
    4. A collection of cDNAs enriched in upper cortical layers of the embryonic mouse brain. García-Frigola C, et al. Brain Res Mol Brain Res, 2004 Mar 30. PMID 15010206
    5. Rearrangement of the Protein Phosphatase 1 Interactome During Heart Failure Progression. Chiang DY, et al. Circulation, 2018 Oct 9. PMID 29669786, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of COQ8a results in cerebellar ataxia and coenzyme Q deficiency.
      Title: Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ADP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ubiquinone biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquinone biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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

    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.

    mRNA and Protein(s)

    1. NM_001163290.1 → NP_001156762.1  atypical kinase COQ8A, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001156762.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC132436
      Consensus CDS
      CCDS15566.1
      UniProtKB/Swiss-Prot
      Q60936, Q8K0M1, Q9D657, Q9DBR5, Q9JHR3
      Related
      ENSMUSP00000128290.2, ENSMUST00000170472.8
      Conserved Domains (1) summary
      cd13970
      Location:292 → 542
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    2. NM_001359268.1 → NP_001346197.1  atypical kinase COQ8A, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC132436
      Conserved Domains (1) summary
      cd13970
      Location:252 → 502
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    3. NM_001359269.1 → NP_001346198.1  atypical kinase COQ8A, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC132436
      Conserved Domains (1) summary
      cd13970
      Location:158 → 408
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    4. NM_023341.3 → NP_075830.2  atypical kinase COQ8A, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_075830.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC132436, AK004791, AK014605, BY261815
      Consensus CDS
      CCDS15566.1
      UniProtKB/Swiss-Prot
      Q60936, Q8K0M1, Q9D657, Q9DBR5, Q9JHR3
      Related
      ENSMUSP00000027766.7, ENSMUST00000027766.13
      Conserved Domains (1) summary
      cd13970
      Location:292 → 542
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      179992803..180023585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006496962.2 → XP_006497025.1  atypical kinase COQ8A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006497025.1

      UniProtKB/Swiss-Prot
      Q60936, Q8K0M1, Q9D657, Q9DBR5, Q9JHR3
      Conserved Domains (1) summary
      cd13970
      Location:292 → 542
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    2. XM_006496961.2 → XP_006497024.1  atypical kinase COQ8A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006497024.1

      UniProtKB/Swiss-Prot
      Q60936, Q8K0M1, Q9D657, Q9DBR5, Q9JHR3
      Conserved Domains (1) summary
      cd13970
      Location:292 → 542
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q60936.2 GenPept UniProtKB/Swiss-Prot:Q60936

    Gene LinkOut

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

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