This domain is found in the neurobeachins (NBEAs) and BEACH domain containing proteins (BDCPs). NBEAS are localised near Golgi apparatus and is involved in vesicular trafficking, intracellular transport, membrane dynamics, endosomal recycling, and receptor signalling. BDCPs are associated with lysosome size, apoptosis, autophagy, granule size, or synapse formation. Mutations in this domain have been related to autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency, responsible for common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS) [[cite:PUB00098183]]. NBEAs deficiency may induce spine loss with defects in synaptic efficacy and plasticity, being associated with autism spectrum disorder (ASD) and ASD-related syndromes [[cite:PUB00098182]].
","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":{"PUB00098183":{"PMID":31432443,"ISBN":null,"volume":"39","issue":"7","year":2019,"title":"A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.","URL":null,"raw_pages":"726-738","medline_journal":"J Clin Immunol","ISO_journal":"J Clin Immunol","authors":["Cagdas D","Halaclı SO","Tan C","Lo B","Cetinkaya PG","Esenboga S","Karaatmaca B","Matthews H","Balcı-Hayta B","Arıkoglu T","Ezgu F","Aladag E","Saltık-Temizel IN","Demir H","Kuskonmaz B","Okur V","Gumruk F","Goker H","Cetinkaya D","Boztug K","Lenardo M","Sanal O","Tezcan I."],"DOI_URL":null},"PUB00098182":{"PMID":31438473,"ISBN":null,"volume":"20","issue":"17","year":2019,"title":"Autism Spectrum Disorder-Related Syndromes: Modeling with Drosophila and Rodents.","URL":null,"raw_pages":null,"medline_journal":"Int J Mol Sci","ISO_journal":"Int J Mol Sci","authors":["Ueoka I","Pham HTN","Matsumoto K","Yamaguchi M."],"DOI_URL":null}},"set_info":null,"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":84,"interactions":0,"matches":4996,"pathways":0,"proteins":4966,"proteomes":1181,"sets":0,"structural_models":{"alphafold":517},"structures":0,"taxa":3860},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":4,"alignment:full":3854},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}