COQ9

Protein-coding gene in humans
COQ9
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4RHP

Identifiers
AliasesCOQ9, C16orf49, COQ10D5, coenzyme Q9
External IDsOMIM: 612837; MGI: 1915164; HomoloGene: 6477; GeneCards: COQ9; OMA:COQ9 - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for COQ9
Genomic location for COQ9
Band16q21Start57,447,425 bp[1]
End57,461,270 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for COQ9
Genomic location for COQ9
Band8|8 C5Start95,564,949 bp[2]
End95,581,523 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 8: 95.56 – 95.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000088682 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: coenzyme Q9 homolog (S. cerevisiae)".
  6. ^ 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.


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