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    COQ10A coenzyme Q10A [ Homo sapiens (human) ]

    Gene ID: 93058, updated on 28-Oct-2024

    Summary

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    Official Symbol
    COQ10Aprovided by HGNC
    Official Full Name
    coenzyme Q10Aprovided by HGNC
    Primary source
    HGNC:HGNC:26515
    See related
    Ensembl:ENSG00000135469 MIM:620736; AllianceGenome:HGNC:26515
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable ubiquinone binding activity. Predicted to be involved in cellular respiration. Located in mitochondrion. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in heart (RPKM 31.5), adrenal (RPKM 13.0) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COQ10A in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56266942..56270966)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56234586..56238610)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56660726..56664750)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56615664-56616598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56616599-56617532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4551 Neighboring gene nucleic acid binding protein 2 Neighboring gene solute carrier family 39 member 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:56630689-56630907 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29670 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29671 Neighboring gene ankyrin repeat domain 52 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56650178-56651170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4554 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29674 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6485 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56660797-56661296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6486 Neighboring gene Sharpr-MPRA regulatory region 15563 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29678 Neighboring gene citrate synthase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56693295-56693812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4557 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6488 Neighboring gene MPRA-validated peak1741 silencer Neighboring gene CNPY2 antisense RNA 1 Neighboring gene canopy FGF signaling regulator 2

    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. Rosuvastatin combined with regular exercise preserves coenzyme Q10 levels associated with a significant increase in high-density lipoprotein cholesterol in patients with coronary artery disease. Toyama K, et al. Atherosclerosis, 2011 Jul. PMID 21458815
    2. Secondary CoQ(10) deficiency, bioenergetics unbalance in disease and aging. Navas P, et al. Biofactors, 2021 Jul. PMID 33878238
    3. Relationship between plasma coenzyme Q10, asymmetric dimethylarginine and arterial stiffness in patients with phenotypic or genotypic familial hypercholesterolemia on long-term statin therapy. Young JM, et al. Atherosclerosis, 2011 Sep. PMID 21640350
    4. Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology. Sommerville RB, et al. Muscle Nerve, 2013 Nov. PMID 23494902
    5. Coenzyme Q10 in acute influenza. Chase M, et al. Influenza Other Respir Viruses, 2019 Jan. PMID 30156030, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Levels of Coenzyme Q10 and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy.
      Title: Levels of Coenzyme Q(10) and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy.
    2. Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging.
      Title: Secondary CoQ(10) deficiency, bioenergetics unbalance in disease and aging.
    3. Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
      Title: Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
    4. Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer.
      Title: Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer.
    5. We found that CoQ10 levels were significantly lower in patients with acute influenza infection and that these levels had significant although weak correlations with several inflammatory biomarkers.
      Title: Coenzyme Q10 in acute influenza.
    6. It is concluded that CoQ10 redox state predicts the concentration of CRP. Persons at risk with lower ubiquinol status, higher BMI, and low grade inflammation may benefit from ubiquinol supplementation
      Title: Coenzyme Q10 redox state predicts the concentration of c-reactive protein in a large caucasian cohort.
    7. In conclusion, urinary CoQ analysis is a noninvasive, reliable, and reproducible method to determine urinary tract CoQ status.
      Title: Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population.
    8. Report age-related increase in oxidized proportion of muscle coenzyme Q10.
      Title: Oxidized proportion of muscle coenzyme Q10 increases with age in healthy children.
    9. Effect of Coenzyme Q10 on Th1/Th2 Paradigm in Females with Idiopathic Recurrent Pregnancy Loss
      Title: Effect of Coenzyme Q10 on Th1/Th2 Paradigm in Females with Idiopathic Recurrent Pregnancy Loss.
    10. Serum coenzyme Q10 levels were inversely associated with risk of disabling dementia.
      Title: Serum coenzyme Q10 and risk of disabling dementia: the Circulatory Risk in Communities Study (CIRCS).
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32452

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquinone binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular respiration IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coenzyme Q-binding protein COQ10 homolog A, mitochondrial
    Names
    coenzyme Q10 homolog A

    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_001099337.2 → NP_001092807.1  coenzyme Q-binding protein COQ10 homolog A, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_001092807.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, which produces a unique 5' UTR and causes translation initiation at a unique start codon, compared to variant 1. The encoded protein (isoform b) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      BC026922
      Consensus CDS
      CCDS44921.1
      UniProtKB/Swiss-Prot
      Q96MF6
      Related
      ENSP00000407843.2, ENST00000433805.6
      Conserved Domains (1) summary
      cd07813
      Location:55 → 193
      COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

    2. NM_144576.4 → NP_653177.3  coenzyme Q-binding protein COQ10 homolog A, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_653177.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC073923, DB271789
      Consensus CDS
      CCDS41796.1
      UniProtKB/Swiss-Prot
      Q6GMR6, Q6UWB9, Q86X16, Q8TAL2, Q96MF1, Q96MF6, Q9BUP4
      Related
      ENSP00000312587.5, ENST00000308197.10
      Conserved Domains (1) summary
      cd07813
      Location:87 → 225
      COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56266942..56270966
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56234586..56238610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MF6.2 GenPept UniProtKB/Swiss-Prot:Q96MF6

    Gene LinkOut

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

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