COQ9

COQ9
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4RHP
Identifiers
Aliases	COQ9, C16orf49, COQ10D5, coenzyme Q9
External IDs	OMIM: 612837; MGI: 1915164; HomoloGene: 6477; GeneCards: COQ9; OMA:COQ9 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16q21 Start 57,447,425 bp End 57,461,270 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 C5 Start 95,564,949 bp End 95,581,523 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart muscle of thigh gastrocnemius muscle mucosa of transverse colon right auricle rectum muscle layer of sigmoid colon right adrenal cortex right lobe of liver right lobe of thyroid gland Top expressed in myocardium of ventricle sternocleidomastoid muscle digastric muscle interventricular septum triceps brachii muscle cardiac muscle tissue of left ventricle temporal muscle soleus muscle muscle of thigh thoracic diaphragm More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding protein homodimerization activity lipid binding Cellular component mitochondrial inner membrane mitochondrion Biological process ubiquinone biosynthetic process mitochondrial electron transport, NADH to ubiquinone Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57017 67914 Ensembl ENSG00000088682 ENSMUSG00000031782 UniProt O75208 Q8K1Z0 RefSeq (mRNA) NM_020312 NM_026452 RefSeq (protein) NP_064708 NP_080728 Location (UCSC) Chr 16: 57.45 – 57.46 Mb Chr 8: 95.56 – 95.58 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.

Function

This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.

Clinical significance

It may be associated with Coenzyme Q10 deficiency.

Model organisms

Coq9 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Abnormal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of COQ9 function. A conditional knockout mouse line, called Coq9^{tm1a(KOMP)Wtsi} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty two tests were carried out on homozygous mutant mice and one significant abnormality was observed: females displayed hyperactivity in an open field test.

Further reading

• Loftus BJ, Kim UJ, Sneddon VP, et al. (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID 10493829.
• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Lamesch P, Li N, Milstein S, et al. (2007). "hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes". Genomics. 89 (3): 307–15. doi:10.1016/j.ygeno.2006.11.012. PMID 17207965.
• Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Otsuki T, Ota T, Nishikawa T, et al. (2005). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Hendrickson SL, Lautenberger JA, Chinn LW, et al. (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLoS ONE. 5 (9): e12862. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Duncan AJ, Bitner-Glindzicz M, Meunier B, et al. (2009). "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease". Am. J. Hum. Genet. 84 (5): 558–66. doi:10.1016/j.ajhg.2009.03.018. PMC 2681001. PMID 19375058.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Zhang QH, Ye M, Wu XY, et al. (2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.