This family of proteins is found in eukaryotes. Proteins in this family are typically between 157 and 192 amino acids in length. There is a single completely conserved residue D that may be functionally important. The family includes Protein CFAP276 and homologues. CFAP276 has been suggested to be involved in intracellular Ca2 homeostasis [[cite:PUB00093604]].
","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":{"PUB00093604":{"PMID":31199454,"ISBN":null,"volume":"142","issue":"8","year":2019,"title":"Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.","URL":null,"raw_pages":"2215-2229","medline_journal":"Brain","ISO_journal":"Brain","authors":["Sun SC","Ma D","Li MY","Zhang RX","Huang C","Huang HJ","Xie YZ","Wang ZJ","Liu J","Cai DC","Liu CX","Yang Q","Bao FX","Gong XL","Li JR","Hui Z","Wei XF","Zhong JM","Zhou WJ","Shang X","Zhang C","Liu XG","Tang BS","Xiong F","Xu XM."],"DOI_URL":null}},"set_info":null,"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":14,"interactions":0,"matches":870,"pathways":0,"proteins":870,"proteomes":649,"sets":0,"structural_models":{"alphafold":755},"structures":13,"taxa":2374},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":19,"alignment:full":649},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}