{"metadata":{"accession":"PF11069","entry_id":null,"type":"family","go_terms":null,"source_database":"pfam","member_databases":null,"integrated":"IPR021298","hierarchy":null,"name":{"name":"Cilia- and flagella-associated protein 298","short":"CFAP298"},"description":[{"text":"<p>This is a eukaryotic family of proteins which includes a group of cilia- and flagella-associated protein, including Kur from zebrafish and C21orf59 from humans. Kur has been shown to play a dual role in cilia motility and polarization [[cite:PUB00089805]]. Primary ciliary dyskinesia (PCD) is caused when defects of motile cilia lead to chronic airway infections, male infertility, and situs abnormalities. Mutations in the C21orf59 gene cause ciliary dyskinesia, primary, 26 (CILD26) [[cite:PUB00089729]].</p>","llm":false,"checked":false,"updated":false}],"wikipedia":null,"literature":{"PUB00089805":{"PMID":26904945,"ISBN":null,"volume":"14","issue":"8","year":2016,"title":"c21orf59/kurly Controls Both Cilia Motility and Polarization.","URL":null,"raw_pages":"1841-9","medline_journal":"Cell Rep","ISO_journal":"Cell Rep","authors":["Jaffe KM","Grimes DT","Schottenfeld-Roames J","Werner ME","Ku TS","Kim SK","Pelliccia JL","Morante NF","Mitchell BJ","Burdine RD."],"DOI_URL":"https://doi.org/10.1016/j.celrep.2016.01.069"},"PUB00089729":{"PMID":24094744,"ISBN":null,"volume":"93","issue":"4","year":2013,"title":"Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.","URL":null,"raw_pages":"672-86","medline_journal":"Am J Hum Genet","ISO_journal":"Am. J. Hum. Genet.","authors":["Austin-Tse C","Halbritter J","Zariwala MA","Gilberti RM","Gee HY","Hellman N","Pathak N","Liu Y","Panizzi JR","Patel-King RS","Tritschler D","Bower R","O'Toole E","Porath JD","Hurd TW","Chaki M","Diaz KA","Kohl S","Lovric S","Hwang DY","Braun DA","Schueler M","Airik R","Otto EA","Leigh MW","Noone PG","Carson JL","Davis SD","Pittman JE","Ferkol TW","Atkinson JJ","Olivier KN","Sagel SD","Dell SD","Rosenfeld M","Milla CE","Loges NT","Omran H","Porter ME","King SM","Knowles MR","Drummond IA","Hildebrandt F."],"DOI_URL":"https://doi.org/10.1016/j.ajhg.2013.08.015"}},"set_info":null,"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":26,"interactions":0,"matches":1910,"pathways":0,"proteins":1901,"proteomes":1452,"sets":0,"structural_models":{"alphafold":1654},"structures":1,"taxa":4738},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":32,"alignment:full":1518},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}