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) [1] Band 16q21 Start 57,447,425 bp [1] End 57,461,270 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 C5 Start 95,564,949 bp [2] End 95,581,523 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 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 [3] [4]
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. ^[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

1. GRCh38: Ensembl release 89: ENSG00000088682 – Ensembl, May 2017
2. 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.
5. "Entrez Gene: coenzyme Q9 homolog (S. cerevisiae)".
6. Online Mendelian Inheritance in Man (OMIM): 607426

External links

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

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.