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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
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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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