COA6
COA6 | |||
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Identifiers | |||
Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process | |||
Sources:Amigo / QuickGO |
Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | Chr 1: 234.37 – 234.39 Mb | n/a | |||||||
PubMed search | [2] | n/a |
View/Edit Human |
Cytochrome c oxidase assembly factor 6 is a
Structure
The COA6 gene is located on the q arm of
Function
The COA6 encodes a protein which is an assembly factor for Complex IV.[3] This protein is specifically required for COX2 biogenesis and stability; the absence of this protein will cause fast turnover of newly synthesized COX2.The presence of a CHCH domain facilitates its function as a thiol-disulfide reductant as it facilitates the transfer of copper from SCO1 to COX2.[10]
Clinical Significance
Two mutations have been identified in this protein: W66R and W59C. The latter mutation results in the protein being mistargeted to the mitochondrial matrix, resulting in the loss of interaction with SCO2 and COX2.[4][5] Inheritance of this mutation is autosomal recessive and results in a phenotype of fatal infantile cardioencephalomyopathy due to Complex IV deficiency.[6] Symptoms include hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, and metabolic hypotonia.[4][5]
Interactions
This protein
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000168275 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c d "Entrez Gene: Cytochrome c oxidase assembly factor 6". Retrieved 2018-08-08.
- ^ a b c d e "COA6 - Cytochrome c oxidase assembly factor 6 homolog - Homo sapiens (Human) - COA6 gene & protein". www.uniprot.org. Retrieved 2018-08-07. This article incorporates text available under the CC BY 4.0 license.
- ^ PMID 27899622.
- ^ a b c Online Mendelian Inheritance in Man (OMIM): 614772
- ^ PMID 25959673.
- PMID 23965338.
- ^ "COA6 - Cytochrome c oxidase assembly factor 6 homolog". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 2018-08-09. Retrieved 2018-08-09.
- ^ PMID 31851937.
- PMID 31515291.
- ^ IntAct. "COA6 interactions". www.ebi.ac.uk. Retrieved 2018-08-08.
Further reading
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (September 2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. PMID 20877624.
- Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK (January 2012). "Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing". Science Translational Medicine. 4 (118): 118ra10. PMID 22277967.
- Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP, Nijtmans LG, Huynen MA (February 2012). "Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase". Genome Biology. 13 (2): R12. PMID 22356826.
- Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP, Nijtmans LG, Huynen MA (February 2012). "Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase". Genome Biology. 13 (2): R12. PMID 22356826.
- Shivatheja Soma; Marcos N Morgada; Mandar T Naik; Aren Boulet; Anna A Roesler; Nathaniel Dziuba; Alok Ghosh; Qinhong Yu; Paul A Lindahl; James B Ames; Scot C Leary; Alejandro J Vila; Vishal M Gohil (December 2019). "COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome C Oxidase". Cell Reports. 29 (12): 4114–26. PMID 31851937.
- Shadi Maghool; N Dinesha G Cooray; David A Stroud; David Aragão; Michael T Ryan; Megan J Maher (September 2019). "Structural and Functional Characterization of the Mitochondrial Complex IV Assembly Factor Coa6". Life Sci Alliance. 2 (5): e201900458. PMID 31515291.
- Pacheu-Grau D, Bareth B, Dudek J, Juris L, Vögtle FN, Wissel M, Leary SC, Dennerlein S, Rehling P, Deckers M (June 2015). "Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies". Cell Metabolism. 21 (6): 823–33. PMID 25959673.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.