词条 | COA3 |
释义 |
StructureThe COA3 gene is located on the q arm of chromosome 17 at position 21.2 and it spans 1,107 base pairs.[3] The COA3 gene produces a 7.8 kDa protein composed of 71 amino acids.[4][5] COA3 is a component of the enzyme MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, and the structure contains a C-terminal coiled-coil domain as well as a central single pass transmembrane domain.[6] FunctionThe COA3 gene encodes for a Core protein of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. The MITRAC complex is essential in the assembly of cytochrome c oxidase (complex IV) of the mitochondrial respiratory chain, which is responsible for the catalysis of oxidation of cytochrome c by molecular oxygen.[7] The MITRAC complex regulates both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. In addition, COA3 is required for efficient translation of MT-CO1 and assembly of the mitochondrial respiratory chain complex IV.[1][2] Clinical significanceVariants of COA3 have been associated with the mitochonrdial Complex IV deficiency, a deficiency in an enzyme complex of the mitochondrial respiratory chain which catalyzes the oxidation of cytochrome c utilizing molecular oxygen.[7] The deficiency is characterized by heterogeneous phenotypes ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Other Clinical Manifestations include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation.[8] A missense mutation of c.215A>G in the COA3 gene has been found to result in a severe decrease in protein levels with symptoms of exercise intolerance and peripheral neuropathy.[7] InteractionsLike COX14, COA3 is a key component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex.[9] In addition, it has interactions with proteins such as MT-CO1, COX1, SMIM20, SURF1, TIMM21, and others.[10][1] References1. ^1 2 {{Cite web|url=https://www.uniprot.org/uniprot/Q9Y2R0|title= COA3 - Cytochrome c oxidase assembly factor 3 homolog, mitochondrial - Homo sapiens (Human) - COA3 gene & protein|access-date=2018-08-07}}{{CC-notice|cc=by4 | url=https://www.uniprot.org/uniprot/Q9Y2R0 | work = UniProt }} 2. ^1 {{cite journal | vauthors = | title = UniProt: the universal protein knowledgebase | journal = Nucleic Acids Research | volume = 45 | issue = D1 | pages = D158-D169 | date = January 2017 | pmid = 27899622 | pmc = 5210571 | doi = 10.1093/nar/gkw1099 }} 3. ^1 {{cite web| title = Entrez Gene: Cytochrome c oxidase assembly factor 3 | url = https://www.ncbi.nlm.nih.gov/gene/28958 | access-date = 2018-08-07 }} 4. ^{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = October 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }} 5. ^{{cite web | url = https://amino.heartproteome.org/web/protein/K7EPV0 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = Cytochrome c oxidase assembly factor 3 homolog, mitochondrial }} 6. ^{{cite journal | vauthors = Peralta S, Clemente P, Sánchez-Martínez A, Calleja M, Hernández-Sierra R, Matsushima Y, Adán C, Ugalde C, Fernández-Moreno MÁ, Kaguni LS, Garesse R | title = Coiled coil domain-containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cytochrome c oxidase function | journal = The Journal of Biological Chemistry | volume = 287 | issue = 29 | pages = 24174–85 | date = July 2012 | pmid = 22610097 | doi = 10.1074/jbc.M112.343764 }} 7. ^1 2 {{cite journal | vauthors = Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jønson L, Duno M, Wibrand F, Shoubridge EA, Vissing J | title = Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature | journal = Journal of Medical Genetics | volume = 52 | issue = 3 | pages = 203–7 | date = March 2015 | pmid = 25604084 | doi = 10.1136/jmedgenet-2014-102914 }} 8. ^{{cite web |title=Mitochondrial complex IV deficiency |url=https://www.uniprot.org/diseases/DI-01469 |website=www.uniprot.org |language=en}} 9. ^{{cite journal | vauthors = Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P | title = MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation | journal = Cell | volume = 151 | issue = 7 | pages = 1528–41 | date = December 2012 | pmid = 23260140 | doi = 10.1016/j.cell.2012.11.053 }} 10. ^{{cite journal | vauthors = Dennerlein S, Oeljeklaus S, Jans D, Hellwig C, Bareth B, Jakobs S, Deckers M, Warscheid B, Rehling P | title = MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly | journal = Cell Reports | volume = 12 | issue = 10 | pages = 1644–55 | date = September 2015 | pmid = 26321642 | doi = 10.1016/j.celrep.2015.08.009 }} Further reading{{refbegin | 2}}
|
随便看 |
|
开放百科全书收录14589846条英语、德语、日语等多语种百科知识,基本涵盖了大多数领域的百科知识,是一部内容自由、开放的电子版国际百科全书。