Coq9 coenzyme Q9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Coq9provided by MGI
Official Full Name: coenzyme Q9provided by MGI
Primary source: MGI:MGI:1915164
See related: Ensembl:ENSMUSG00000031782 AllianceGenome:MGI:1915164
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: 2310005O14Rik
Summary: Predicted to enable lipid binding activity and protein homodimerization activity. Involved in ubiquinone biosynthetic process. Acts upstream of or within mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrion. Used to study coenzyme Q10 deficiency disease. Human ortholog(s) of this gene implicated in primary coenzyme Q10 deficiency 5. Orthologous to human COQ9 (coenzyme Q9). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in heart adult (RPKM 226.6), adrenal adult (RPKM 140.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C5; 8 46.89 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (95565041..95581523)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (94838413..94854895)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The presence of a truncated version of COQ9 protein in Coq9(R239X) mice destabilizes the coenzyme Q10-synthesizing multiprotein complex.
Title: The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.
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.
Lack of a functional Coq9 protein causes predominant encephalomyopathy and CoQ deficiency.
Title: Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.
Although Pdss2 mutant mice manifest widespread CoQ(9) deficiency and mitochondrial respiratory chain abnormalities, only affected organs show increased ROS production, oxidative stress, mitochondrial DNA depletion, and reduced citrate synthase activity.
Title: Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.
Calorie restriction modifies ubiquinone and COQ transcript levels in mouse tissues
Title: Calorie restriction modifies ubiquinone and COQ transcript levels in mouse tissues.

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Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH143876 (e-PCR)
- UniSTS:233122

RH126359 (e-PCR)
- UniSTS:163067

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables lipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipid binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within mitochondrial electron transport, NADH to ubiquinone	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquinone biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ubiquinone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
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
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
part_of ubiquinone biosynthesis complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ubiquinone biosynthesis protein COQ9, mitochondrial

Names: coenzyme Q9 homolog

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_026452.3 → NP_080728.1 ubiquinone biosynthesis protein COQ9, mitochondrial precursor

See identical proteins and their annotated locations for NP_080728.1

Status: VALIDATED

Source sequence(s)

AC129606

Consensus CDS

CCDS22550.1

UniProtKB/Swiss-Prot

Q8K1Z0, Q9CT61

UniProtKB/TrEMBL

F6SFF5

Related

ENSMUSP00000034234.9, ENSMUST00000034234.15

Conserved Domains (2) summary

TIGR02396
Location:97 → 276

diverge_rpsU; rpsU-divergently transcribed protein

pfam08511
Location:205 → 275

COQ9; COQ9