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    COQ6 coenzyme Q6, monooxygenase [ Homo sapiens (human) ]

    Gene ID: 51004, updated on 5-Mar-2024

    Summary

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    Official Symbol
    COQ6provided by HGNC
    Official Full Name
    coenzyme Q6, monooxygenaseprovided by HGNC
    Primary source
    HGNC:HGNC:20233
    See related
    Ensembl:ENSG00000119723 MIM:614647; AllianceGenome:HGNC:20233
    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
    CGI10; CGI-10; COQ10D6
    Summary
    The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]
    Expression
    Ubiquitous expression in adrenal (RPKM 8.7), testis (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73949926..73963670)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68157579..68171324)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74416629..74430373)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr14:74318268-74318670 Neighboring gene prostaglandin reductase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8722 Neighboring gene zinc finger protein 410 Neighboring gene FAM161 centrosomal protein B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74416687-74417687 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:74418757-74419055 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 5 (inactive) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74459045-74459546 Neighboring gene Sharpr-MPRA regulatory region 8014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5926 Neighboring gene ribosomal protein L41 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory regions 4216 and 10298 Neighboring gene basal body orientation factor 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36659 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:74530601-74530820 Neighboring gene aldehyde dehydrogenase 6 family member A1

    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. Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. Yuruk Yildirim Z, et al. Eur J Med Genet, 2020 Jan. PMID 30682496
    2. COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss. Park E, et al. Am J Kidney Dis, 2017 Jul. PMID 28117207
    3. A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis. Zhang K, et al. Genet Med, 2014 Oct. PMID 24763291, Free PMC Article
    4. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. Heeringa SF, et al. J Clin Invest, 2011 May. PMID 21540551, Free PMC Article
    5. Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants. Gigante M, et al. Clin Genet, 2017 Aug. PMID 28044327

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
      Title: Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
    2. CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel homozygous missense change in COQ6 gene: p.Pro261Leu.
      Title: Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
    3. Primary CoQ10 deficiency due to COQ6 mutations should be considered in children presenting with both Steroid-Resistant Focal Segmental Glomerulosclerosis and sensorineural hearing loss. An early diagnosis of COQ6 mutations is essential because the condition is treatable when CoQ10 supplementation is started at the early stage.
      Title: COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.
    4. Data indicate a heterozygous loss-of-function coenzyme Q10 (CoQ10) biosynthesis monooxygenase 6 gene (COQ6)missense mutation in familial schwannomatosis.
      Title: A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.
    5. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
      Title: COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    • FLJ51173, FLJ53037, FLJ58904, FLJ79255

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2-octaprenyl-6-methoxyphenol hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 4-hydroxy-3-all-trans-hexaprenylbenzoate oxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables FAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extrinsic component of mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    part_of ubiquinone biosynthesis complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ubiquinone biosynthesis monooxygenase COQ6, mitochondrial
    Names
    coenzyme Q10 monooxygenase 6
    coenzyme Q6 homolog, monooxygenase
    NP_872282.1
    NP_872286.2
    XP_011535109.1
    XP_011535110.1
    XP_011535111.1
    XP_047287379.1
    XP_047287380.1
    XP_047287381.1
    XP_054232128.1
    XP_054232129.1
    XP_054232130.1
    XP_054232131.1
    XP_054232132.1
    XP_054232133.1

    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_032805.1 RefSeqGene

      Range
      5369..18737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001425255.1 → NP_001412184.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005480

    2. NM_001425256.1 → NP_001412185.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform d

      Status: REVIEWED

      Source sequence(s)
      AC005480

    3. NM_001425257.1 → NP_001412186.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform e precursor

      Status: REVIEWED

      Source sequence(s)
      AC005480

    4. NM_001425258.1 → NP_001412187.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005480

    5. NM_001425259.1 → NP_001412188.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform g

      Status: REVIEWED

      Source sequence(s)
      AC005480
      UniProtKB/TrEMBL
      A0A0D9SFJ1

    6. NM_001425260.1 → NP_001412189.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform g

      Status: REVIEWED

      Source sequence(s)
      AC005480
      UniProtKB/TrEMBL
      A0A0D9SFJ1

    7. NM_001425261.1 → NP_001412190.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform h

      Status: REVIEWED

      Source sequence(s)
      AC005480

    8. NM_001425262.1 → NP_001412191.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform i

      Status: REVIEWED

      Source sequence(s)
      AC005480

    9. NM_001425263.1 → NP_001412192.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform j

      Status: REVIEWED

      Source sequence(s)
      AC005480

    10. NM_001425264.1 → NP_001412193.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform k precursor

      Status: REVIEWED

      Source sequence(s)
      AC005480

    11. NM_001425265.1 → NP_001412194.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform k precursor

      Status: REVIEWED

      Source sequence(s)
      AC005480

    12. NM_182476.3 → NP_872282.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_872282.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC005480, BC014181, BX342249
      Consensus CDS
      CCDS9823.1
      UniProtKB/Swiss-Prot
      B7Z3K8, Q53GG6, Q86U30, Q96CA1, Q96CK2, Q9Y2Z9
      Related
      ENSP00000333946.2, ENST00000334571.7
      Conserved Domains (2) summary
      TIGR01988
      Location:48 → 467
      Ubi-OHases; Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6 family
      TIGR01989
      Location:48 → 463
      COQ6; ubiquinone biosynthesis monooxygenase COQ6

    13. NM_182480.3 → NP_872286.2  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_872286.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC005480, AK296040, BC014181
      Consensus CDS
      CCDS9824.2
      UniProtKB/Swiss-Prot
      Q9Y2Z9
      Related
      ENSP00000377594.4, ENST00000394026.8
      Conserved Domains (2) summary
      TIGR01988
      Location:38 → 442
      Ubi-OHases; Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6 family
      cl21454
      Location:30 → 438
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      73949926..73963670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431424.1 → XP_047287380.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X3

    2. XM_011536809.4 → XP_011535111.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X4

      Conserved Domains (2) summary
      TIGR01988
      Location:45 → 392
      Ubi-OHases; Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6 family
      cl21454
      Location:45 → 388
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. XM_011536807.3 → XP_011535109.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X1

      Conserved Domains (2) summary
      TIGR01988
      Location:48 → 431
      Ubi-OHases; Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6 family
      cl21454
      Location:48 → 427
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. XM_047431423.1 → XP_047287379.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X2

    5. XM_011536808.3 → XP_011535110.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X4

      Related
      ENSP00000486650.1, ENST00000629426.2
      Conserved Domains (2) summary
      TIGR01988
      Location:45 → 392
      Ubi-OHases; Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6 family
      cl21454
      Location:45 → 388
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    6. XM_047431425.1 → XP_047287381.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X5

    RNA

    1. XR_943465.4 RNA Sequence

    2. XR_943466.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      68157579..68171324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376155.1 → XP_054232130.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X3

    2. XM_054376157.1 → XP_054232132.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X4

    3. XM_054376153.1 → XP_054232128.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X1

    4. XM_054376154.1 → XP_054232129.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X2

    5. XM_054376156.1 → XP_054232131.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X4

    6. XM_054376158.1 → XP_054232133.1  ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform X5

    RNA

    1. XR_008488870.1 RNA Sequence

    2. XR_008488871.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2Z9.2 GenPept UniProtKB/Swiss-Prot:Q9Y2Z9

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