Coq7 demethyl-Q 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Coq7provided by MGI
Official Full Name: demethyl-Q 7provided by MGI
Primary source: MGI:MGI:107207
See related: Ensembl:ENSMUSG00000030652 AllianceGenome:MGI:107207
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: clk-1
Summary: Predicted to enable 3-demethoxyubiquinol 3-hydroxylase activity and chromatin binding activity. Acts upstream of or within several processes, including chordate embryonic development; determination of adult lifespan; and mitochondrial ATP synthesis coupled electron transport. Located in mitochondrion. Is expressed in several structures, including alimentary system; ear; heart; respiratory system; and skeleton. Human ortholog(s) of this gene implicated in autosomal recessive distal hereditary motor neuronopathy 9 and primary coenzyme Q10 deficiency 8. Orthologous to human COQ7 (coenzyme Q7, hydroxylase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart adult (RPKM 25.4), CNS E11.5 (RPKM 15.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F1; 7 63.44 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (118108881..118132529, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (118509659..118533356, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clk1 plays a direct role in dopaminergic neuronal survival via regulating the autophagy-lysosome pathway that may contribute to the pathologic development of Parkinson disease.
Title: Activation of AMPK/mTORC1-Mediated Autophagy by Metformin Reverses Clk1 Deficiency-Sensitized Dopaminergic Neuronal Death.
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.
An enhanced immune response of Mclk1+/- mutant mice is associated with partial protection from fibrosis, cancer and the development of biomarkers of aging
Title: An enhanced immune response of Mclk1⁺/⁻ mutant mice is associated with partial protection from fibrosis, cancer and the development of biomarkers of aging.
These findings indicate that MCLK1 (also known as Coq7) regulates both coenzyme Q synthesis and distribution within mitochondrial membranes.
Title: The submitochondrial distribution of ubiquinone affects respiration in long-lived Mclk1+/- mice.
Calorie restriction modifies ubiquinone and COQ transcript levels in mouse tissues
Title: Calorie restriction modifies ubiquinone and COQ transcript levels in mouse tissues.
the partial resistance to I/R injury suggests that Mclk1(+/)(-) mutants have an enhanced recovery potential following age-dependant vascular accidents, which correlates well with their longer survival
Title: Lifelong protection from global cerebral ischemia and reperfusion in long-lived Mclk1(+/)(-) mutants.
Reduction in COQ7 levels gradually prevents the deterioration of mitochondrial function and associated increase of global oxidative stress that is normally observed in Sod2(+/-) mutants.
Title: Reversal of the mitochondrial phenotype and slow development of oxidative biomarkers of aging in long-lived Mclk1+/- mice.
Mclk1 heterozygosity does not necessarily protect against atherosclerosis. Moreover, in the presence of hyperlipidemia and chronic inflammation, Mclk1 heterozygosity is incapable of extending lifespan
Title: Mclk1+/- mice are not resistant to the development of atherosclerosis.
action of clioquinol on several age-dependent neurodegenerative diseases with distinct etiologies might result from a slowing down of the aging process through action of the drug on CLK-1.
Title: The anti-neurodegeneration drug clioquinol inhibits the aging-associated protein CLK-1.
Mclk1 has a role in mitochondrial function, energy metabolism and the aging process
Title: Early mitochondrial dysfunction in long-lived Mclk1+/- mice.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-demethoxyubiquinol 3-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-demethoxyubiquinol 3-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables chromatin binding	ISO Inferred from Sequence Orthology 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

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of adult lifespan	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrial ATP synthesis coupled electron transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology 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 regulation of reactive oxygen species metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within respiratory electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to oxidative stress	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within ubiquinone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ubiquinone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquinone biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in ubiquinone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquinone biosynthetic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
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	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of ubiquinone biosynthesis complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 5-demethoxyubiquinone hydroxylase, mitochondrial

Names: DMQ hydroxylase; coenzyme Q biosynthesis protein 7 homolog; timing protein clk-1 homolog; ubiquinone biosynthesis monooxygenase COQ7; ubiquinone biosynthesis protein COQ7 homolog

NP_001291687.1

EC 1.14.99.60

NP_001399196.1

EC 1.14.99.60

NP_001399197.1

EC 1.14.99.60

NP_034070.1

EC 1.14.99.60

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)

NM_001304758.2 → NP_001291687.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001291687.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains two alternate exons including an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is longer and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC122912

Consensus CDS

CCDS80794.1

UniProtKB/TrEMBL

Q3TYT1

Related

ENSMUSP00000095695.4, ENSMUST00000098090.10

Conserved Domains (1) summary

pfam03232
Location:49 → 191

COQ7; Ubiquinone biosynthesis protein COQ7
NM_001412267.1 → NP_001399196.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 3

Status: VALIDATED

Source sequence(s)

AC122912

UniProtKB/TrEMBL

A0A140LIF0

Related

ENSMUSP00000146797.2, ENSMUST00000209146.2
NM_001412268.1 → NP_001399197.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 4

Status: VALIDATED

Source sequence(s)

AC122912
NM_009940.4 → NP_034070.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_034070.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).

Source sequence(s)

AC122912

Consensus CDS

CCDS21771.1

UniProtKB/Swiss-Prot

P97478, Q9R0D7

Related

ENSMUSP00000032887.4, ENSMUST00000032887.4

Conserved Domains (1) summary

pfam03232
Location:49 → 216

COQ7; Ubiquinone biosynthesis protein COQ7