Protein-coding gene in humans
COQ9 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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Identifiers |
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Aliases | COQ9, C16orf49, COQ10D5, coenzyme Q9 |
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External IDs | OMIM: 612837; MGI: 1915164; HomoloGene: 6477; GeneCards: COQ9; OMA:COQ9 - orthologs |
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Gene location (Human) |
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![Chromosome 16 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/2/2d/Ideogram_human_chromosome_16.svg/300px-Ideogram_human_chromosome_16.svg.png) | Chr. | Chromosome 16 (human)[1] |
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| Band | 16q21 | Start | 57,447,425 bp[1] |
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End | 57,461,270 bp[1] |
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Gene location (Mouse) |
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![Chromosome 8 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/1/1f/Ideogram_house_mouse_chromosome_8.svg/260px-Ideogram_house_mouse_chromosome_8.svg.png) | Chr. | Chromosome 8 (mouse)[2] |
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| Band | 8|8 C5 | Start | 95,564,949 bp[2] |
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End | 95,581,523 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000088682 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "Entrez Gene: coenzyme Q9 homolog (S. cerevisiae)".
- ^ Online Mendelian Inheritance in Man (OMIM): 607426
External links
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. 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.