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    COQ7 coenzyme Q7, hydroxylase [ Homo sapiens (human) ]

    Gene ID: 10229, updated on 2-Nov-2024

    Summary

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    Official Symbol
    COQ7provided by HGNC
    Official Full Name
    coenzyme Q7, hydroxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:2244
    See related
    Ensembl:ENSG00000167186 MIM:601683; AllianceGenome:HGNC:2244
    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
    CAT5; CLK1; CLK-1; HMNR9; COQ10D8
    Summary
    The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in prostate (RPKM 5.8), thyroid (RPKM 5.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COQ7 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19067614..19083097)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18998449..19010962)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19078936..19091417)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SMG1 nonsense mediated mRNA decay associated PI3K related kinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7237 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18937597-18938209 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18938210-18938823 Neighboring gene SMG1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:18983611-18984111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7239 Neighboring gene Sharpr-MPRA regulatory region 10247 Neighboring gene transmembrane channel like 7 Neighboring gene RNA, U6 small nuclear 1340, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19041109-19041653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10523 Neighboring gene COQ7 divergent transcript Neighboring gene uncharacterized LOC124903656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19117151-19118009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7242 Neighboring gene ITPRIP like 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. Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities. Wongkittichote P, et al. Mol Genet Metab, 2023 Aug. PMID 37392700, Free PMC Article
    2. COQ7 defect causes prenatal onset of mitochondrial CoQ(10) deficiency with cardiomyopathy and gastrointestinal obstruction. Pettenuzzo I, et al. Eur J Hum Genet, 2024 Aug. PMID 38702428, Free PMC Article
    3. Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment. Wang Y, et al. J Cell Mol Med, 2017 Oct. PMID 28409910, Free PMC Article
    4. A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population. Sadr Z, et al. Neurol Sci, 2023 Jul. PMID 36854932
    5. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. Rebelo AP, et al. Brain, 2023 Oct 3. PMID 37170631, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
      Title: COQ7 defect causes prenatal onset of mitochondrial CoQ(10) deficiency with cardiomyopathy and gastrointestinal obstruction.
    2. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
      Title: Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
    3. Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
      Title: Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities.
    4. A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.
      Title: A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.
    5. Structure and functionality of a multimeric human COQ7:COQ9 complex.
      Title: Structure and functionality of a multimeric human COQ7:COQ9 complex.
    6. Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan.
      Title: Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan.
    7. Clinical spectrum in multiple families with primary COQ10 deficiency.
      Title: Clinical spectrum in multiple families with primary COQ(10) deficiency.
    8. Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
      Title: Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
    9. Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.
      Title: Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neuronopathy, distal hereditary motor, autosomal recessive 9
    MedGen: C5882672 OMIM: 620402 GeneReviews: Not available
    		not available
    Primary coenzyme Q10 deficiency 8
    MedGen: C4225226 OMIM: 616733 GeneReviews: Primary Coenzyme Q10 Deficiency Overview
    		Compare labs

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-demethoxyubiquinol 3-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    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 determination of adult lifespan IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of reactive oxygen species metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquinone biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extrinsic component of mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ubiquinone biosynthesis complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    5-demethoxyubiquinone hydroxylase, mitochondrial
    Names
    COQ7 coenzyme Q, 7 homolog ubiquinone
    DMQ hydroxylase
    coenzyme Q biosynthesis protein 7 homolog
    coenzyme Q7 homolog, ubiquinone
    placental protein KG-20
    timing protein clk-1 homolog
    ubiquinone biosynthesis monooxygenase COQ7
    ubiquinone biosynthesis protein COQ7 homolog
    NP_001177912.1
    NP_001357418.1
    NP_001357419.1
    NP_001357420.1
    NP_001357421.1
    NP_001357422.1
    NP_001357423.1
    NP_001357424.1
    NP_057222.2
    XP_047289450.1
    XP_047289451.1
    XP_047289452.1
    XP_047289453.1
    XP_047289454.1

    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_046596.2 RefSeqGene

      Range
      5002..17483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190983.2 → NP_001177912.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001177912.1

      Status: REVIEWED

      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS53993.1
      UniProtKB/TrEMBL
      Q8NI45
      Related
      ENSP00000442923.2, ENST00000544894.6
      Conserved Domains (1) summary
      pfam03232
      Location:11 → 178
      COQ7; Ubiquinone biosynthesis protein COQ7

    2. NM_001370489.1 → NP_001357418.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      H3BP28
      Related
      ENSP00000455122.1, ENST00000569127.1
      Conserved Domains (1) summary
      pfam03232
      Location:35 → 202
      COQ7; Ubiquinone biosynthesis protein COQ7

    3. NM_001370490.1 → NP_001357419.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      H3BP28
      Conserved Domains (1) summary
      pfam03232
      Location:49 → 193
      COQ7; Ubiquinone biosynthesis protein COQ7

    4. NM_001370491.1 → NP_001357420.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      H3BP28
      Conserved Domains (1) summary
      pfam03232
      Location:35 → 179
      COQ7; Ubiquinone biosynthesis protein COQ7

    5. NM_001370492.1 → NP_001357421.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS53993.1
      UniProtKB/TrEMBL
      Q8NI45
      Conserved Domains (1) summary
      pfam03232
      Location:11 → 178
      COQ7; Ubiquinone biosynthesis protein COQ7

    6. NM_001370493.1 → NP_001357422.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS53993.1
      UniProtKB/TrEMBL
      Q8NI45
      Conserved Domains (1) summary
      pfam03232
      Location:11 → 178
      COQ7; Ubiquinone biosynthesis protein COQ7

    7. NM_001370494.1 → NP_001357423.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS53993.1
      UniProtKB/TrEMBL
      Q8NI45
      Conserved Domains (1) summary
      pfam03232
      Location:11 → 178
      COQ7; Ubiquinone biosynthesis protein COQ7

    8. NM_001370495.1 → NP_001357424.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      Q8NI45
      Related
      ENSP00000457256.1, ENST00000561858.5
      Conserved Domains (1) summary
      pfam03232
      Location:11 → 155
      COQ7; Ubiquinone biosynthesis protein COQ7

    9. NM_016138.5 → NP_057222.2  5-demethoxyubiquinone hydroxylase, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_057222.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC099518, AI424412, AK024291
      Consensus CDS
      CCDS10574.1
      UniProtKB/Swiss-Prot
      B2RDA9, Q99807, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5
      UniProtKB/TrEMBL
      H3BP28
      Related
      ENSP00000322316.5, ENST00000321998.10
      Conserved Domains (1) summary
      pfam03232
      Location:49 → 216
      COQ7; Ubiquinone biosynthesis protein COQ7

    RNA

    1. NR_163448.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC099518

    2. NR_163449.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC099518

    3. NR_163450.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC099518

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      19067614..19083097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433495.1 → XP_047289451.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2RDA9, Q99807, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5

    2. XM_047433496.1 → XP_047289452.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2RDA9, Q99807, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5

    3. XM_047433494.1 → XP_047289450.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2RDA9, Q99807, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5

    4. XM_047433498.1 → XP_047289454.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X2

    5. XM_047433497.1 → XP_047289453.1  5-demethoxyubiquinone hydroxylase, mitochondrial isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      18998449..19010962
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99807.3 GenPept UniProtKB/Swiss-Prot:Q99807

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