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
Gene location (Human)
Chr.	Chromosome 16 (human)
End	57,461,270 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	94,854,895 bp
Gene ontology
Molecular function	• GO:0001948 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
	57017
	67914
	ENSG00000088682
	ENSMUSG00000031782
	O75208
	Q8K1Z0
	NM_020312
	NM_026452
	NP_064708
	NP_080728
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 23, 2021

Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.^[5]

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.^[5]

Clinical significance

It may be associated with Coenzyme Q10 deficiency.^[6]

Model organisms

*Coq9* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Abnormal^[7]
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal^[8]
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^[9]
Citrobacter infection	Normal^[10]
All tests and analysis from^[11]^[12]

Model organisms have been used in the study of COQ9 function. A conditional knockout mouse line, called Coq9^{tm1a(KOMP)Wtsi}^[13]^[14] 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.^[15]^[16]^[17]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[11]^[18] Twenty two tests were carried out on homozygous mutant mice and one significant abnormality was observed: females displayed hyperactivity in an open field test.^[11]

Related Research Articles

Mitochondrial 5-demethoxyubiquinone hydroxylase, also known as coenzyme Q7, hydroxylase, is an enzyme that in humans is encoded by the COQ7 gene. The clk-1 (clock-1) gene encodes this protein that is necessary for ubiquinone biosynthesis in the worm Caenorhabditis elegans and other eukaryotes. The mouse version of the gene is called mclk-1 and the human, fruit fly and yeast homolog COQ7.

Ubiquitin-associated protein 1 is a protein that in humans is encoded by the UBAP1 gene.

Shugoshin-like 2 , also known as SGOL2, is a protein which in humans is encoded by the SGOL2 gene.

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Elongation factor G 1, mitochondrial is a protein that in humans is encoded by the GFM1 gene. It is an EF-G homolog.

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SLC35F6 is a protein that in humans is encoded by the SLC35F6 gene. The orthologue in mice is 4930471M23Rik.

1-acyl-sn-glycerol-3-phosphate acyltransferase gamma is an enzyme that in humans is encoded by the AGPAT3 gene. The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene.

Pseudouridylate synthase 7 homolog-like protein is an enzyme that in humans is encoded by the PUS7L gene.

SET and MYND domain-containing protein 4 is a protein that in humans is encoded by the SMYD4 gene.

Ninein-like protein is a protein that in humans is encoded by the NINL gene. It is part of the centrosome.

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial is a protein that in humans is encoded by the COQ4 gene.

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000088682 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031782 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: coenzyme Q9 homolog (S. cerevisiae)".
↑ Online Mendelian Inheritance in Man (OMIM): 607426
↑ "Anxiety data for Coq9". Wellcome Trust Sanger Institute.
↑ "Dysmorphology data for Coq9". Wellcome Trust Sanger Institute.
↑ "Salmonella infection data for Coq9". Wellcome Trust Sanger Institute.
↑ "Citrobacter infection data for Coq9". Wellcome Trust Sanger Institute.
1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
↑ "International Knockout Mouse Consortium".^{[ permanent dead link ]}
↑ "Mouse Genome Informatics".
↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410 . PMID 21677750.
↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID 21677718.
↑ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID 17218247. S2CID 18872015.
↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837 . PMID 21722353.

External links

Human COQ9 genome location and COQ9 gene details page in the UCSC Genome Browser .

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. hdl: 11858/00-001M-0000-0010-8592-0 . PMID 16169070. S2CID 8235923.
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. PMC 4647941 . 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2010PLoSO...512862H. doi: 10.1371/journal.pone.0012862 . PMC 2943476 . PMID 20877624.
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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000088682 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031782 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: coenzyme Q9 homolog (S. cerevisiae)".

[6] Online Mendelian Inheritance in Man (OMIM): 607426

[Anxiety-7] "Anxiety data for Coq9". Wellcome Trust Sanger Institute.

[Dysmorphology-8] "Dysmorphology data for Coq9". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-9] "Salmonella infection data for Coq9". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-10] "Citrobacter infection data for Coq9". Wellcome Trust Sanger Institute.

[mgp_reference-11] 1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.

[12] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-13] "International Knockout Mouse Consortium".^{[ permanent dead link ]}

[mgi_allele_ref-14] "Mouse Genome Informatics".

[pmid21677750-15] Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410 . PMID 21677750.

[mouse_library-16] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID 21677718.

[mouse_for_all_reasons-17] Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID 17218247. S2CID 18872015.

[pmid21722353-18] van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837 . PMID 21722353.

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