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Coq8a coenzyme Q8A [ Mus musculus (house mouse) ]

Gene ID: 67426, updated on 13-Oct-2022

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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See Coq8a in Genome Data Viewer
Location:
1; 1 H4
Exon count:
19
Annotation release Status Assembly Chr Location
109 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 uncharacterized LOC108167750 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

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

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
 PubMed 
involved_in ubiquinone biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in extrinsic component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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, 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, 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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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, 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, 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

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