{"metadata":{"accession":"PF06979","entry_id":null,"type":"family","go_terms":null,"source_database":"pfam","member_databases":null,"integrated":"IPR045325","hierarchy":null,"name":{"name":"TMEM70/TMEM186/TMEM223 protein family","short":"TMEM70"},"description":[{"text":"<p>This entry represents the TMEM70/TMEM186/TMEM223 protein family. TMEM70 is a family of proteins essential for assembly of the mitochondrial proton-transporting ATP synthase complex within the inner mitochondrial membrane. TMEM70 functions in the assembly of complexes I and V [[cite:PUB00098577]].</p>","llm":false,"checked":false,"updated":false}],"wikipedia":null,"literature":{"PUB00075430":{"PMID":18953340,"ISBN":null,"volume":"40","issue":"11","year":2008,"title":"TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.","URL":null,"raw_pages":"1288-90","medline_journal":"Nat Genet","ISO_journal":"Nat. Genet.","authors":["Cizkova A","Stranecky V","Mayr JA","Tesarova M","Havlickova V","Paul J","Ivanek R","Kuss AW","Hansikova H","Kaplanova V","Vrbacky M","Hartmannova H","Noskova L","Honzik T","Drahota Z","Magner M","Hejzlarova K","Sperl W","Zeman J","Houstek J","Kmoch S."],"DOI_URL":"http://dx.doi.org/10.1038/ng.246"},"PUB00075432":{"PMID":22986587,"ISBN":null,"volume":"13","issue":"4","year":2012,"title":"TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.","URL":null,"raw_pages":"375-86","medline_journal":"Neurogenetics","ISO_journal":"Neurogenetics","authors":["Torraco A","Verrigni D","Rizza T","Meschini MC","Vazquez-Memije ME","Martinelli D","Bianchi M","Piemonte F","Dionisi-Vici C","Santorelli FM","Bertini E","Carrozzo R."],"DOI_URL":"http://dx.doi.org/10.1007/s10048-012-0343-8"},"PUB00075431":{"PMID":20937241,"ISBN":null,"volume":"1807","issue":"1","year":2011,"title":"Expression and processing of the TMEM70 protein.","URL":null,"raw_pages":"144-9","medline_journal":"Biochim Biophys Acta","ISO_journal":"Biochim. Biophys. Acta","authors":["Hejzlarova K","Tesarova M","Vrbacka-Cizkova A","Vrbacky M","Hartmannova H","Kaplanova V","Noskova L","Kratochvilova H","Buzkova J","Havlickova V","Zeman J","Kmoch S","Houstek J."],"DOI_URL":"http://dx.doi.org/10.1016/j.bbabio.2010.10.005"},"PUB00098577":{"PMID":32275929,"ISBN":null,"volume":"1861","issue":"8","year":2020,"title":"TMEM70 functions in the assembly of complexes I and V.","URL":null,"raw_pages":"148202","medline_journal":"Biochim Biophys Acta Bioenerg","ISO_journal":"Biochim Biophys Acta Bioenerg","authors":["Sanchez-Caballero L","Elurbe DM","Baertling F","Guerrero-Castillo S","van den Brand M","van Strien J","van Dam TJP","Rodenburg R","Brandt U","Huynen MA","Nijtmans LGJ."],"DOI_URL":null}},"set_info":{"accession":"CL0266","name":"PH"},"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":57,"interactions":0,"matches":3963,"pathways":0,"proteins":3944,"proteomes":1899,"sets":1,"structural_models":{"alphafold":3504},"structures":0,"taxa":5985},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":44,"alignment:full":3070},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}