COQ9

COQ9
Identifiers
Aliases	COQ9, C16orf49, COQ10D5, coenzyme Q9
External IDs	OMIM: 612837; MGI: 1915164; GeneCards: COQ9
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4RHP
Gene location (Human)
Chr.	Chromosome 16 (human)
End	57,461,270 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	95,581,523 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; muscle of thigh; ; gastrocnemius muscle; ; mucosa of transverse colon; ; right auricle of heart; ; 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
	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
Databases	NCBI: entry; OMA: entry
	57017
	67914
	ENSG00000088682
	ENSMUSG00000031782
	O75208
	Q8K1Z0
	NM_020312
	NM_026452
	NP_064708
	NP_080728
	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.

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

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.

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

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by adding missing information.

[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

COQ9

Function

Clinical significance

References

External links

Further reading