This entry represents a domain found in RMND1 from mammals, Sif2/Sif3 from fission yeasts and Rmd1/Rmd8/YDR282C (Mrx10) from budding yeasts. RMND1 and its yeast homologue, Mrx10, are mitochondrial proteins required for mitochondrial translation [[cite:PUB00076329],[cite:PUB00076330]]. Rmd1 and Rmd8 are cytoplasmic proteins required for sporulation [[cite:PUB00075393]].
","llm":false,"checked":false,"updated":false}],"wikipedia":[{"title":"Domain_of_unknown_function","extract":"A domain of unknown function (DUF) is a protein domain that has no characterised function. These families have been collected together in the Pfam database using the prefix DUF followed by a number, with examples being DUF2992 and DUF1220. As of 2019, there are almost 4,000 DUF families within the Pfam database representing over 22% of known families. Some DUFs are not named using the nomenclature due to popular usage but are nevertheless DUFs.
","thumbnail":null}],"literature":{"PUB00076329":{"PMID":23022098,"ISBN":null,"volume":"91","issue":"4","year":2012,"title":"An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.","URL":null,"raw_pages":"737-43","medline_journal":"Am J Hum Genet","ISO_journal":"Am. J. Hum. Genet.","authors":["Janer A","Antonicka H","Lalonde E","Nishimura T","Sasarman F","Brown GK","Brown RM","Majewski J","Shoubridge EA."],"DOI_URL":"http://dx.doi.org/10.1016/j.ajhg.2012.08.020"},"PUB00076330":{"PMID":23022099,"ISBN":null,"volume":"91","issue":"4","year":2012,"title":"Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.","URL":null,"raw_pages":"729-36","medline_journal":"Am J Hum Genet","ISO_journal":"Am. J. Hum. Genet.","authors":["Garcia-Diaz B","Barros MH","Sanna-Cherchi S","Emmanuele V","Akman HO","Ferreiro-Barros CC","Horvath R","Tadesse S","El Gharaby N","DiMauro S","De Vivo DC","Shokr A","Hirano M","Quinzii CM."],"DOI_URL":"http://dx.doi.org/10.1016/j.ajhg.2012.08.019"},"PUB00075393":{"PMID":12586695,"ISBN":null,"volume":"163","issue":"1","year":2003,"title":"Large-scale functional genomic analysis of sporulation and meiosis in Saccharomyces cerevisiae.","URL":null,"raw_pages":"47-54","medline_journal":"Genetics","ISO_journal":"Genetics","authors":["Enyenihi AH","Saunders WS."],"DOI_URL":null}},"set_info":null,"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":131,"interactions":0,"matches":9108,"pathways":0,"proteins":9028,"proteomes":4343,"sets":0,"structural_models":{"alphafold":7471},"structures":0,"taxa":10538},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":254,"alignment:full":6779},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}