This domain of unknown function is found in eukaryotes on neurobeachin and BEACH domain-containing proteins (BDCPs) [[cite:PUB00075927],[cite:PUB00098184]]. Mutations in this proteins are associated with Lipopolysaccharide-responsive and beige-like anchor (LRBA) deficiency [[cite:PUB00098184]]. According to structure prediction is adopts an alpha-helical solenoid structure.
","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":{"PUB00075927":{"PMID":17215302,"ISBN":null,"volume":"134","issue":"4","year":2007,"title":"SEL-2, the C. elegans neurobeachin/LRBA homolog, is a negative regulator of lin-12/Notch activity and affects endosomal traffic in polarized epithelial cells.","URL":null,"raw_pages":"691-702","medline_journal":"Development","ISO_journal":"Development","authors":["de Souza N","Vallier LG","Fares H","Greenwald I."],"DOI_URL":"http://dx.doi.org/10.1242/dev.02767"},"PUB00098184":{"PMID":32154999,"ISBN":null,"volume":"8","issue":"5","year":2020,"title":"Novel compound heterozygous stop-gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency.","URL":null,"raw_pages":"e1216","medline_journal":"Mol Genet Genomic Med","ISO_journal":"Mol Genet Genomic Med","authors":["Phan ANL","Pham TTT","Huynh N","Nguyen TM","Cao CTT","Nguyen DT","Le DT","Bui CB."],"DOI_URL":null}},"set_info":{"accession":"CL0020","name":"TPR"},"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":349,"interactions":0,"matches":11316,"pathways":0,"proteins":10161,"proteomes":1996,"sets":1,"structural_models":{"alphafold":510},"structures":0,"taxa":6072},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":16,"alignment:full":8540},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}