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

Gene ID: 10229, updated on 11-Apr-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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Location:
16p12.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19067614..19083097)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18998449..19010962)
105.20220307 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
  • 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. 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
  2. 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
  3. Structure and functionality of a multimeric human COQ7:COQ9 complex. Manicki M, et al. Mol Cell, 2022 Nov 17. PMID 36306796, Free PMC Article
  4. A new member of the family of di-iron carboxylate proteins. Coq7 (clk-1), a membrane-bound hydroxylase involved in ubiquinone biosynthesis. Stenmark P, et al. J Biol Chem, 2001 Sep 7. PMID 11435415
  5. Orthologues of the Caenorhabditis elegans longevity gene clk-1 in mouse and human. Asaumi S, et al. Genomics, 1999 Jun 15. PMID 10373327

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Structure and functionality of a multimeric human COQ7:COQ9 complex.
    Title: Structure and functionality of a multimeric human COQ7:COQ9 complex.
  5. 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.
  6. Clinical spectrum in multiple families with primary COQ10 deficiency.
    Title: Clinical spectrum in multiple families with primary COQ(10) deficiency.
  7. 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.
  8. 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.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  10. The siRNA-mediated knock down leads to an increase in cytoplasmic superoxide dismutase (SOD1) mRNA levels and activity
    Title: Superoxide dismutase is regulated by LAMMER kinase in Drosophila and human cells.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Associated conditions

Description Tests
Neuronopathy, distal hereditary motor, autosomal recessive 9
MedGen: CN375610 OMIM: 620402 GeneReviews: Not available
not available
Primary coenzyme Q10 deficiency 8
MedGen: C4225226 OMIM: 616733 GeneReviews: Primary Coenzyme Q10 Deficiency Overview
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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 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 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 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 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus 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
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_2023_10

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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