{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bourens M"],"funding":["American Heart Association","National Institute of General Medical Sciences","NIGMS NIH HHS","Muscular Dystrophy Association"],"pagination":["477-494"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5331208"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["18(3)"],"pubmed_abstract":["Defects in mitochondrial respiratory chain complex IV (CIV) frequently cause encephalocardiomyopathies. Human CIV assembly involves 14 subunits of dual genetic origin and multiple nucleus-encoded ancillary factors. Biogenesis of the mitochondrion-encoded copper/heme-containing COX1 subunit initiates the CIV assembly process. Here, we show that the intermembrane space twin CX<sub>9</sub>C protein CMC1 forms an early CIV assembly intermediate with COX1 and two assembly factors, the cardiomyopathy proteins COA3 and COX14. A TALEN-mediated <i>CMC1</i> knockout HEK293T cell line displayed normal COX1 synthesis but decreased CIV activity owing to the instability of newly synthetized COX1. We demonstrate that CMC1 stabilizes a COX1-COA3-COX14 complex before the incorporation of COX4 and COX5a sub"],"journal":["EMBO reports"],"pubmed_title":["A <i>CMC1</i>-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis."],"pmcid":["PMC5331208"],"funding_grant_id":["R01 GM071775","MDA‐381828","R01 GM112179","GM071775","R35GM118141","GM112179","R01 GM105781","GM105781","R35 GM118141"],"pubmed_authors":["Bourens M","Barrientos A"],"additional_accession":[]},"is_claimable":false,"name":"A <i>CMC1</i>-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis.","description":"Defects in mitochondrial respiratory chain complex IV (CIV) frequently cause encephalocardiomyopathies. Human CIV assembly involves 14 subunits of dual genetic origin and multiple nucleus-encoded ancillary factors. Biogenesis of the mitochondrion-encoded copper/heme-containing COX1 subunit initiates the CIV assembly process. Here, we show that the intermembrane space twin CX<sub>9</sub>C protein CMC1 forms an early CIV assembly intermediate with COX1 and two assembly factors, the cardiomyopathy proteins COA3 and COX14. A TALEN-mediated <i>CMC1</i> knockout HEK293T cell line displayed normal COX1 synthesis but decreased CIV activity owing to the instability of newly synthetized COX1. We demonstrate that CMC1 stabilizes a COX1-COA3-COX14 complex before the incorporation of COX4 and COX5a sub","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Mar","modification":"2026-05-05T19:40:30.169Z","creation":"2019-03-26T23:04:10Z"},"accession":"S-EPMC5331208","cross_references":{"pubmed":["28082314"],"doi":["10.15252/embr.201643103"]}}