{"metadata":{"accession":"PF29715","entry_id":null,"type":"domain","go_terms":null,"source_database":"pfam","member_databases":null,"integrated":"IPR063929","hierarchy":null,"name":{"name":"Bardet-Biedl syndrome 5 protein second PH-like domain","short":"BBL5_2nd"},"description":[{"text":"<p>BBS5 is part of the BBSome complex that may function as a coat complex required for sorting of specific membrane proteins to the primary cilia [[cite:PUB00060532]]. Mutations in the BBS5 gene cause Bardet-Biedl syndrome 5 [[cite:PUB00073459],[cite:PUB00073460]]. This entry represents the second PH-like domain.</p>","llm":false,"checked":false,"updated":false}],"wikipedia":null,"literature":{"PUB00073459":{"PMID":15137946,"ISBN":null,"volume":"117","issue":"4","year":2004,"title":"Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.","URL":null,"raw_pages":"541-52","medline_journal":"Cell","ISO_journal":"Cell","authors":["Li JB","Gerdes JM","Haycraft CJ","Fan Y","Teslovich TM","May-Simera H","Li H","Blacque OE","Li L","Leitch CC","Lewis RA","Green JS","Parfrey PS","Leroux MR","Davidson WS","Beales PL","Guay-Woodford LM","Yoder BK","Stormo GD","Katsanis N","Dutcher SK."],"DOI_URL":"http://dx.doi.org/10.1016/S0092-8674(04)00450-7"},"PUB00073460":{"PMID":21344540,"ISBN":null,"volume":"32","issue":"6","year":2011,"title":"BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.","URL":null,"raw_pages":"610-9","medline_journal":"Hum Mutat","ISO_journal":"Hum. Mutat.","authors":["Deveault C","Billingsley G","Duncan JL","Bin J","Theal R","Vincent A","Fieggen KJ","Gerth C","Noordeh N","Traboulsi EI","Fishman GA","Chitayat D","Knueppel T","Millan JM","Munier FL","Kennedy D","Jacobson SG","Innes AM","Mitchell GA","Boycott K","Heon E."],"DOI_URL":"http://dx.doi.org/10.1002/humu.21480"},"PUB00060532":{"PMID":17574030,"ISBN":null,"volume":"129","issue":"6","year":2007,"title":"A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.","URL":null,"raw_pages":"1201-13","medline_journal":"Cell","ISO_journal":"Cell","authors":["Nachury MV","Loktev AV","Zhang Q","Westlake CJ","Peranen J","Merdes A","Slusarski DC","Scheller RH","Bazan JF","Sheffield VC","Jackson PK."],"DOI_URL":"http://dx.doi.org/10.1016/j.cell.2007.03.053"}},"set_info":{"accession":"CL0266","name":"PH"},"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":56,"interactions":0,"matches":1873,"pathways":0,"proteins":1859,"proteomes":1308,"sets":1,"structural_models":{"alphafold":1658},"structures":5,"taxa":4277},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":35,"alignment:full":1593},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}